mll

Ensembl ID:
ENSDARG00000004537
ZFIN ID:
ZDB-GENE-080521-3
Description:
histone-lysine N-methyltransferase MLL [Source:RefSeq peptide;Acc:NP_001103749]
Human Orthologue:
MLL
Human Description:
myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) [Source:HGNC Symbol;Acc:7
Mouse Orthologue:
Mll1
Mouse Description:
myeloid/lymphoid or mixed-lineage leukemia 1 Gene [Source:MGI Symbol;Acc:MGI:96995]

Alleles

There are 8 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa137 Nonsense Confirmed mutation in F2 line During 2014
sa24984 Nonsense Mutation detected in F1 DNA During 2014
sa4605 Essential Splice Site Mutation detected in F1 DNA During 2014
sa19112 Essential Splice Site Mutation detected in F1 DNA During 2014
sa19111 Nonsense Mutation detected in F1 DNA During 2014
sa10905 Nonsense Available for shipment Available now
sa22638 Nonsense Mutation detected in F1 DNA During 2014
sa2815 Nonsense F2 line generated During 2014

Mutation Details

Allele Name:
sa137
Current Status:
Confirmed mutation in F2 line
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:
G > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000104525 Nonsense 1668 4219 10 35
Genomic Location:
Chromosome 15 (position 22753326)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TTCTGCTTGGGGGAGGCAGAGCGGCCTCATGACGAACAGTGGGAAAACTG[G/A]TGTTGCCGCCGATGCCGCTTTTGCCATGTTTGTGGGCGGAAATATCAGAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa24984
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:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000104525 Nonsense 1762 4219 13 35
Genomic Location:
Chromosome 15 (position 22751237)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CCTTGTCATTAAACAATGTAATAAATGTTATTTCCCCCTTCCAGGCAACT[T/A]GTGCCCACTTTGTAATAAGGGCTATGATGACGATGACTGTGACAGCAAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa4605
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 > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000104525 Essential Splice Site 2179 4219 21 35
ENSDART00000104525 Essential Splice Site 2179 4219 21 35
Genomic Location:
Chromosome 15 (position 22744352)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GGACAAGAAGGTTTACTGTCAGCATCACAAAGATCTTGTAAAGGGCGAGG[T/C]AAGGAGTGATGCATGCATATATCWGTAAGCAAGTTGTGCACTAAGGATTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa19112
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 > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000104525 Essential Splice Site 2179 4219 21 35
ENSDART00000104525 Essential Splice Site 2179 4219 21 35
Genomic Location:
Chromosome 15 (position 22744352)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GGACAAGAAGGTTTACTGTCAGCATCACAAAGATCTTGTAAAGGGCGAGG[T/C]AAGGAGTGATGCATGCATATATCAGTAAGCAAGTTGTGCACTAAGGATTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa19111
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:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000104525 Nonsense 2976 4219 26 35
ENSDART00000104525 Nonsense 2976 4219 26 35
Genomic Location:
Chromosome 15 (position 22741496)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CTGGTCTTCCATCTATTGCTGGTATTGATCAGTGTTTGGGAAGAGGTTCA[C/T]AGATCCACAGATTCTTGAGGGACCAGGCAAAGGAGCATGAAGATGACAGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa10905
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
ENSDART00000104525 Nonsense 2976 4219 26 35
ENSDART00000104525 Nonsense 2976 4219 26 35
Genomic Location:
Chromosome 15 (position 22741496)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CTGGYCTTCCATCTATTGCTGGTATTGATCAGTGTTTGGGAAGAGRTTCA[C/T]AGAWCCACAGATTCTTGAGGGACCAGGCAAAGGAGCATGAAGATGACAGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa22638
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:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000104525 Nonsense 3090 4219 26 35
Genomic Location:
Chromosome 15 (position 22741154)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AAAATCAAAAGGATAACTGTCTTCCATTAGGAAGTGTGAAAACACAAGGA[C/T]AAGACCCACTTGAAACTCAATTATCACTCACCACAGATCTGCTCAAGTCT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa2815
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:
C > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000104525 Nonsense 4194 4219 35 35
Genomic Location:
Chromosome 15 (position 22737015)
KASP Assay ID:
554-3171.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ATTTTTGCCACACGCAAGATCTATAAAGGCGAGGAGCTCACGTATGATTA[C/A]AAGTTTCCCATCGAAGAACCAGGCAATAAGCTGCCTTGCAACTGCGGGGC
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/fioj8gy5