si:busm1-160c18.1

Ensembl ID:
ENSDARG00000053739
ZFIN IDs:
ZDB-GENE-030616-170, ZDB-GENE-041124-5
Description:
LOC795595 protein [Source:UniProtKB/TrEMBL;Acc:A4FVL7]
Human Orthologues:
HLA-DMA, HLA-DMB, HLA-DOA, HLA-DPA1, HLA-DQA1, HLA-DQA2, HLA-DRA, XXbac-BPG181M17.5
Human Descriptions:
major histocompatibility complex, class II, DM alpha [Source:HGNC Symbol;Acc:4934]
major histocompatibility complex, class II, DM beta [Source:HGNC Symbol;Acc:4935]
Major histocompatibility complex, class II, DM beta [Source:UniProtKB/TrEMBL;Acc:A2AAT6]
major histocompatibility complex, class II, DO alpha [Source:HGNC Symbol;Acc:4936]
major histocompatibility complex, class II, DP alpha 1 [Source:HGNC Symbol;Acc:4938]
major histocompatibility complex, class II, DQ alpha 1 [Source:HGNC Symbol;Acc:4942]
major histocompatibility complex, class II, DQ alpha 2 [Source:HGNC Symbol;Acc:4943]
major histocompatibility complex, class II, DR alpha [Source:HGNC Symbol;Acc:4947]
Mouse Orthologues:
H2-Aa, H2-DMa, H2-DMb1, H2-DMb2, H2-Oa
Mouse Descriptions:
histocompatibility 2, class II antigen A, alpha Gene [Source:MGI Symbol;Acc:MGI:95895]
histocompatibility 2, class II, locus DMa Gene [Source:MGI Symbol;Acc:MGI:95921]
histocompatibility 2, class II, locus Mb1 Gene [Source:MGI Symbol;Acc:MGI:95922]
histocompatibility 2, class II, locus Mb2 Gene [Source:MGI Symbol;Acc:MGI:95923]
histocompatibility 2, O region alpha locus Gene [Source:MGI Symbol;Acc:MGI:95924]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa38702 Essential Splice Site Mutation detected in F1 DNA During 2017
sa41258 Nonsense Mutation detected in F1 DNA During 2017

Mutation Details

Allele Name:
sa38702
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 2017.
Mutation:
T > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000075834 Essential Splice Site 102 242 2 4
Genomic Location (Zv9):
Chromosome 8 (position 36136373)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 35204877
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AATATAGTCTCTTTGACTAAAATTTTTAACAGCCCACCACCAGAAATGGG[T/A]AAGCCCCATAAATTAATTGCAAAATACTAACAGCTGCAGTTAGCAGGAAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa41258
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 2017.
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000075834 Nonsense 109 242 3 4
Genomic Location (Zv9):
Chromosome 8 (position 36132467)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 35200971
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AAACTAATGCAGTTATTTGTGTTTCTAGATCCACCACAGACATCTATATA[T/A]CCAAAAGATGATGTTGAGCTGGGTGTTCAGAACACTCTTGTCTGCCATGC
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

(GWAS data comes from http://www.genome.gov/gwastudies/.)

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