si:ch211-173b16.3

Ensembl ID:
ENSDARG00000059093
ZFIN ID:
ZDB-GENE-081104-19
Description:
Novel protein similar to vertebrate neuronal ankyrin family [Source:UniProtKB/TrEMBL;Acc:B8JK14]
Mouse Orthologue:
Ank1
Mouse Description:
ankyrin 1, erythroid Gene [Source:MGI Symbol;Acc:MGI:88024]

Alleles

There are 6 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa20591 Essential Splice Site Mutation detected in F1 DNA During 2014
sa20590 Nonsense Mutation detected in F1 DNA During 2014
sa10842 Essential Splice Site Available for shipment Available now
sa8214 Essential Splice Site Mutation detected in F1 DNA During 2014
sa10265 Nonsense Available for shipment Available now
sa2255 Splice Site F2 line generated During 2014

Mutation Details

Allele Name:
sa20591
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 2014.
Mutation:
T > G
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000090092 Essential Splice Site 363 1929 9 49
ENSDART00000137443 None None 1050 None 26
Genomic Location:
Chromosome 5 (position 71913197)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GGCCAAGGTGCTCCTGGATAAAGGAGCCAAACCAAACACCCGCGCTCTGG[T/G]CAGTGCACTTCCACAAAGAAGACTCCACACAATTAATGCATGTGATTATA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa20590
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 2014.
Mutation:
A > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000090092 Nonsense 780 1929 21 49
ENSDART00000137443 Nonsense 334 1050 9 26
Genomic Location:
Chromosome 5 (position 71899361)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CTCTTGCCATCGCCAAGCGGCTTGGATACATTTCAGTCATCGATGTGCTC[A/T]AACTGGTCACTGAAGAGACGGTCACTATGGTAAGAAAAATTGACATTAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa10842
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000090092 Essential Splice Site 813 1929 22 49
ENSDART00000137443 Essential Splice Site 367 1050 10 26
Genomic Location:
Chromosome 5 (position 71898489)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GAGTTTYCCTGAAACCGTTGATGAGATCCTGGAWGTGTCTGAAGATGAAG[G/A]TAAAAACAACTCTNNATTCACCATCACAATCTGTTTTTRMGTTATTAGCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa8214
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 2014.
Mutation:
T > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000090092 None None 1929 None 49
ENSDART00000137443 Essential Splice Site 375 1050 11 26
Genomic Location:
Chromosome 5 (position 71898340)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TGAAGTAGATTCCTCTTGGTTTTTCTAGGAATTGCACAGCTAACATTAGG[T/A]ATGAACTTCCCTNNTTCTTCTGTGTGCGGTGGTCATTGTCAGTGACTTCATT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa10265
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000090092 Nonsense 1026 1929 28 49
ENSDART00000137443 Nonsense 573 1050 16 26
Genomic Location:
Chromosome 5 (position 71885762)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ATTTTGCGGCTCTCGGTCGGGGAGATCGGGAACTCGTGGTCTTGAGGAGT[G/T]AGAACGGATCKGTCTGGAAGGARCATCGTAACCGATAYGGAGATGAAGTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa2255
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 2014.
Mutation:
T > A
Consequence:
Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000090092 Splice Site None 1929 None 49
ENSDART00000137443 None None 1050 None 26

The following genes are also affected by this mutation:

Genomic Location:
Chromosome 5 (position 71828137)
KASP Assay ID:
554-3440.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TARTTTTCTTTCTCATTTCTCAGGTTAAGCRCAGGGTCGTTCCTGTCTTA[T/A]CTGCAGGATCAGGGCTCTCCTGGTTGGCATTCGGCTGCAGAAGCGACTCA
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/wvaozfwr