mll3b

Ensembl ID:
ENSDARG00000075560
ZFIN ID:
ZDB-GENE-070705-340
Description:
Novel protein similar to human and mouse myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3) [Source
Human Orthologue:
MLL3
Human Description:
myeloid/lymphoid or mixed-lineage leukemia 3 [Source:HGNC Symbol;Acc:13726]
Mouse Orthologue:
Mll3
Mouse Description:
myeloid/lymphoid or mixed-lineage leukemia 3 Gene [Source:MGI Symbol;Acc:MGI:2444959]

Alleles

There are 20 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa5126 Essential Splice Site F2 line generated During 2016
sa11689 Nonsense Available for shipment Available now
sa32861 Nonsense Mutation detected in F1 DNA During 2016
sa19694 Nonsense Available for shipment Available now
sa39784 Essential Splice Site Mutation detected in F1 DNA During 2016
sa25777 Nonsense Mutation detected in F1 DNA During 2016
sa38316 Nonsense Mutation detected in F1 DNA During 2016
sa39785 Splice Site, Nonsense Mutation detected in F1 DNA During 2016
sa5127 Nonsense F2 line generated During 2016
sa6827 Nonsense Mutation detected in F1 DNA During 2016
sa38317 Nonsense Mutation detected in F1 DNA During 2016
sa17591 Nonsense Available for shipment Available now
sa39786 Nonsense Mutation detected in F1 DNA During 2016
sa15663 Nonsense Available for shipment Available now
sa10821 Nonsense Available for shipment Available now
sa25101 Nonsense Mutation detected in F1 DNA During 2016
sa17423 Essential Splice Site Available for shipment Available now
sa1802 Missense F2 line generated During 2016
sa38318 Nonsense Mutation detected in F1 DNA During 2016
sa19695 Essential Splice Site Mutation detected in F1 DNA During 2016

Mutation Details

Allele Name:
sa5126
Current Status:
F2 line generated
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000112279 Essential Splice Site 204 4879 4 60
ENSDART00000131780   None 734 None 10
ENSDART00000132574   None 90 None 2
ENSDART00000133043   None 383 None 8
ENSDART00000137621   None 293 None 4
ENSDART00000143400   None 279 None 6
ENSDART00000145384   None 328 None 8
ENSDART00000146674   None 601 None 13

The following transcripts of ENSDARG00000075560 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 2 (position 12694384)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 13219609
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GACAAGACCGGGGCTGCCAGCCAATCAGGGAGGCAAAGGGGCCTAGAGAG[G/A]TAAGCTGATTGGCTGGGGCAATTGAGTCTGTGACATATTATAATATGTCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa11689
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
A > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000112279 Nonsense 551 4879 11 60
ENSDART00000131780   None 734 None 10
ENSDART00000132574   None 90 None 2
ENSDART00000133043   None 383 None 8
ENSDART00000137621   None 293 None 4
ENSDART00000143400   None 279 None 6
ENSDART00000145384   None 328 None 8
ENSDART00000146674   None 601 None 13

The following transcripts of ENSDARG00000075560 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 2 (position 12731553)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 13256778
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CTGAAGAATCAACACAACTAGWTCCATCAAATAATGATTCTGAGCCTGCC[A/T]AAGTTCAAGATATAGAAMCTCATCAGCCTGTTCGAGAGATGCAGAATGAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa32861
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
A > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000112279 Nonsense 1203 4879 22 60
ENSDART00000131780   None 734 None 10
ENSDART00000132574   None 90 None 2
ENSDART00000133043   None 383 None 8
ENSDART00000137621   None 293 None 4
ENSDART00000143400   None 279 None 6
ENSDART00000145384   None 328 None 8
ENSDART00000146674 Nonsense 34 601 1 13

The following transcripts of ENSDARG00000075560 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 2 (position 12768329)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 13293554
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AGCTTCAGAGTCTTGCCAACGCAGCATCTCGCCGGAGACGCTCTAAACCT[A/T]AACTCAAGCTGAAGATCATAAACCAGAACAGTGTAGCTGTGCTGCAGACA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa19694
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000112279 Nonsense 1586 4879 32 60
ENSDART00000131780   None 734 None 10
ENSDART00000132574   None 90 None 2
ENSDART00000133043   None 383 None 8
ENSDART00000137621   None 293 None 4
ENSDART00000143400   None 279 None 6
ENSDART00000145384   None 328 None 8
ENSDART00000146674 Nonsense 387 601 10 13

The following transcripts of ENSDARG00000075560 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 2 (position 12786865)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 13312090
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TGTTGTATCCACTGTGTATTGGTATGTTTTTTTATGCAGGATTGTCTTCA[C/T]GAATGCCAGTGATGAATGGTTTAATGGAATCCAAACAGCAGTTTTCACAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa39784
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
T > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000112279 Essential Splice Site 1800 4879 None 60
ENSDART00000131780   None 734 None 10
ENSDART00000132574   None 90 None 2
ENSDART00000133043   None 383 None 8
ENSDART00000137621   None 293 None 4
ENSDART00000143400   None 279 None 6
ENSDART00000145384   None 328 None 8
ENSDART00000146674   601 601 None 13

The following transcripts of ENSDARG00000075560 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 2 (position 12789128)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 13314353
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ATTGAAGCACAAGGAGTCAGAGCATGAACAAGAATGGAAGTTTAGACAAG[T/A]AAGTCTACAATAGTTATTTGTTTGCAAATGGGCTAAATGACAAATGTGTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa25777
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000112279 Nonsense 2298 4879 36 60
ENSDART00000131780   None 734 None 10
ENSDART00000132574   None 90 None 2
ENSDART00000133043   None 383 None 8
ENSDART00000137621   None 293 None 4
ENSDART00000143400   None 279 None 6
ENSDART00000145384   None 328 None 8
ENSDART00000146674   None 601 None 13

The following transcripts of ENSDARG00000075560 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 2 (position 12791052)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 13316277
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CAATAGGAAGGTCCCAGTCATTACGAAATGATTCATGTTCACATATCCCA[C/T]GAACACCTCATCACGGAGTTGTAGGACAGGTATTGGTATCTGGGCCCTTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa38316
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
C > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000112279 Nonsense 2357 4879 36 60
ENSDART00000131780   None 734 None 10
ENSDART00000132574   None 90 None 2
ENSDART00000133043   None 383 None 8
ENSDART00000137621   None 293 None 4
ENSDART00000143400   None 279 None 6
ENSDART00000145384   None 328 None 8
ENSDART00000146674   None 601 None 13

The following transcripts of ENSDARG00000075560 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 2 (position 12791230)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 13316455
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GACCCTTAAACATCTGAGCATGACAGATGATTCAGGATCTCAGCCACTAT[C/A]AAATCGACCTAATCAGACTCCTATTCATGATCCATTTGAGCAGACCGCTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa39785
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
C > T
Consequence:
Splice Site, Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000112279 Splice Site, Nonsense 2417 4879 36 60
ENSDART00000131780   None 734 None 10
ENSDART00000132574   None 90 None 2
ENSDART00000133043   None 383 None 8
ENSDART00000137621   None 293 None 4
ENSDART00000143400   None 279 None 6
ENSDART00000145384   None 328 None 8
ENSDART00000146674   None 601 None 13

The following transcripts of ENSDARG00000075560 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 2 (position 12791409)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 13316634
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GCAGTGGAACACAAACAATACCTCTTGCCGAAGCTGAGGAAAGACTGAGA[C/T]AGGTGTTTATTTTGTTACTACTATATTTTAAATGGTTATTTTTTTCAGAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa5127
Current Status:
F2 line generated
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000112279 Nonsense 2488 4879 37 60
ENSDART00000131780   None 734 None 10
ENSDART00000132574   None 90 None 2
ENSDART00000133043   None 383 None 8
ENSDART00000137621   None 293 None 4
ENSDART00000143400   None 279 None 6
ENSDART00000145384   None 328 None 8
ENSDART00000146674   None 601 None 13

The following transcripts of ENSDARG00000075560 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 2 (position 12791782)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 13317007
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CCACCACCATATCCTGGCCCAGGAGCTGTAAGAGCACCTCAGAGATTCTA[T/A]GCGACAAGAGATAGACAAGGACAGTTTCCTGAAGGCCAGTTACCCAGACC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa6827
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
A > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000112279 Nonsense 2595 4879 38 60
ENSDART00000131780   None 734 None 10
ENSDART00000132574   None 90 None 2
ENSDART00000133043   None 383 None 8
ENSDART00000137621   None 293 None 4
ENSDART00000143400   None 279 None 6
ENSDART00000145384   None 328 None 8
ENSDART00000146674   None 601 None 13

The following transcripts of ENSDARG00000075560 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 2 (position 12792198)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 13317423
KASP Assay ID:
554-4846.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ATGTTCAACAGCATAACATCATGGGACAGCCTTTTATTGAACTGAGACAC[A/T]GAACACCAGATAGCAGACTTCGTCTTTCCTTTGGACCTCCTGGTATGCAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa38317
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000112279 Nonsense 2627 4879 38 60
ENSDART00000131780   None 734 None 10
ENSDART00000132574   None 90 None 2
ENSDART00000133043   None 383 None 8
ENSDART00000137621   None 293 None 4
ENSDART00000143400   None 279 None 6
ENSDART00000145384   None 328 None 8
ENSDART00000146674   None 601 None 13

The following transcripts of ENSDARG00000075560 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 2 (position 12792295)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 13317520
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GCAGGGTAATCGAATGGAATCACCCTTACAGCAACATGCCCCAGGTTTCT[T/A]GAGTGGCCAAGAACTGGTATTCCCCTTCAATCAGATTACAAAAGCAGTGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa17591
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000112279 Nonsense 2931 4879 38 60
ENSDART00000131780   None 734 None 10
ENSDART00000132574   None 90 None 2
ENSDART00000133043   None 383 None 8
ENSDART00000137621   None 293 None 4
ENSDART00000143400   None 279 None 6
ENSDART00000145384   None 328 None 8
ENSDART00000146674   None 601 None 13

The following transcripts of ENSDARG00000075560 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 2 (position 12793206)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 13318431
KASP Assay ID:
2259-1708.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CAAGCATGCTGGTCAGTGTACCACCAGAAGGTAAARAACTGAAGCAAGAA[C/T]AATGTGGAAAGTCAACAGAACAAAACAACCTTTCAAATCAGGAAACTGCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa39786
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000112279 Nonsense 2993 4879 38 60
ENSDART00000131780   None 734 None 10
ENSDART00000132574   None 90 None 2
ENSDART00000133043   None 383 None 8
ENSDART00000137621   None 293 None 4
ENSDART00000143400   None 279 None 6
ENSDART00000145384   None 328 None 8
ENSDART00000146674   None 601 None 13

The following transcripts of ENSDARG00000075560 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 2 (position 12793392)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 13318617
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TGTCTTCTCATGATGAAAGTGCATTAGAAGTCTCAAGCTCCATTCAGGAA[C/T]AGCAACAAAGCCATATTTTTGGTATTGATCAAAAGGATGCTGTACTCTCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa15663
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000112279 Nonsense 3375 4879 43 60
ENSDART00000131780   None 734 None 10
ENSDART00000132574   None 90 None 2
ENSDART00000133043   None 383 None 8
ENSDART00000137621   None 293 None 4
ENSDART00000143400   None 279 None 6
ENSDART00000145384   None 328 None 8
ENSDART00000146674   None 601 None 13

The following transcripts of ENSDARG00000075560 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 2 (position 12799359)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 13324584
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CCAACCCATTTAGCGAAGGCTTCCAGGAGCGAGAACGCAAGGAGAGAKTA[C/T]GAGAGCAGCAGGAGCGGCAAMGAATRCAGATCATAAAGGAGGTGGAGAGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa10821
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000112279 Nonsense 3437 4879 43 60
ENSDART00000131780   None 734 None 10
ENSDART00000132574   None 90 None 2
ENSDART00000133043   None 383 None 8
ENSDART00000137621   None 293 None 4
ENSDART00000143400   None 279 None 6
ENSDART00000145384   None 328 None 8
ENSDART00000146674   None 601 None 13

The following transcripts of ENSDARG00000075560 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 2 (position 12799545)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 13324770
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ACAACCAGGAGCTACCRCAGGACTTCATGCAGCCACCCAGATTGCAGCAA[C/T]AGAWCCAAGGGCCCACWTTTCCACAGCAGCAAGGCACACAACAAGGGTAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa25101
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
C > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000112279 Nonsense 3582 4879 43 60
ENSDART00000131780   None 734 None 10
ENSDART00000132574   None 90 None 2
ENSDART00000133043   None 383 None 8
ENSDART00000137621   None 293 None 4
ENSDART00000143400   None 279 None 6
ENSDART00000145384   None 328 None 8
ENSDART00000146674   None 601 None 13

The following transcripts of ENSDARG00000075560 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 2 (position 12799982)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 13325207
KASP Assay ID:
554-7545.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TCTACACCTCATACACCTCACTCAGACATGACTGCTCCATTAACACCCTG[C/A]GTGTCAGACACATCATCCACACCGACAAGGAACCCAATGGTCTTTGGTGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa17423
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000112279 Essential Splice Site 3922 4879 46 60
ENSDART00000131780   None 734 None 10
ENSDART00000132574   None 90 None 2
ENSDART00000133043 Essential Splice Site 208 383 4 8
ENSDART00000137621   None 293 None 4
ENSDART00000143400   None 279 None 6
ENSDART00000145384   None 328 None 8
ENSDART00000146674   None 601 None 13

The following transcripts of ENSDARG00000075560 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 2 (position 12802595)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 13327820
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ACAACAGAGGAGCTTGCCAGAAAAGGTGGCCTCATTGCTGGACACGAWGG[T/C]GAGTAGYAGCTGATGTAGACTGAGCGGGTGATTTYGATCTATATTWGAGC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa1802
Current Status:
F2 line generated
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
T > A
Consequence:
Missense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000112279 Missense 4278 4879 53 60
ENSDART00000131780 Missense 133 734 3 10
ENSDART00000132574   None 90 None 2
ENSDART00000133043   None 383 None 8
ENSDART00000137621   None 293 None 4
ENSDART00000143400   None 279 None 6
ENSDART00000145384   None 328 None 8
ENSDART00000146674   None 601 None 13

The following transcripts of ENSDARG00000075560 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 2 (position 12812281)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 13337506
KASP Assay ID:
554-1794.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ATCTTCTCCTGCTCCGTACCTCCACATGGCTTTTGCACCAGCSAAAGCAA[T/A]CAAGACAGAATCCAAACCTAGAAGCATATCAGAGGGCCATCTTAAAGTCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa38318
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
A > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000112279 Nonsense 4293 4879 53 60
ENSDART00000131780 Nonsense 148 734 3 10
ENSDART00000132574   None 90 None 2
ENSDART00000133043   None 383 None 8
ENSDART00000137621   None 293 None 4
ENSDART00000143400   None 279 None 6
ENSDART00000145384   None 328 None 8
ENSDART00000146674   None 601 None 13

The following transcripts of ENSDARG00000075560 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 2 (position 12812325)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 13337550
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AAGCAATCAAGACAGAATCCAAACCTAGAAGCATATCAGAGGGCCATCTT[A/T]AAGTCACAGTCAAGCTAAAACCACGTTTGCACAGTCACTTAGAAGACAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa19695
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000112279 Essential Splice Site 4603 4879 53 60
ENSDART00000131780 Essential Splice Site 458 734 3 10
ENSDART00000132574   None 90 None 2
ENSDART00000133043   None 383 None 8
ENSDART00000137621   None 293 None 4
ENSDART00000143400   None 279 None 6
ENSDART00000145384   None 328 None 8
ENSDART00000146674   None 601 None 13

The following transcripts of ENSDARG00000075560 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 2 (position 12813257)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 13338482
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ATTGAGCAGGGATATGAGGATCTGGTTCTGACTGATACCTCTGCTAAAGG[T/C]ACATCGTCATTAGACTCTTTCCTAATTGTATTATGTTTGTTAATGACAGA
Associated Phenotype:
Not determined

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If you would like to be informed when the status of this gene changes (for example, a new allele is generated or an allele is made available for distribution) then please enter your details below:

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