si:busm1-228j01.4

Ensembl ID:
ENSDARG00000088872
ZFIN IDs:
ZDB-GENE-030616-394, ZDB-GENE-030616-442, ZDB-GENE-030616-446, ZDB-GENE-990415-143
Description:
hypothetical protein LOC368844 [Source:RefSeq peptide;Acc:NP_001009597]
Human Orthologues:
HLA-DOB, HLA-DPB1, HLA-DPB2, HLA-DQB1, HLA-DQB2, HLA-DRB1, HLA-DRB5
Human Descriptions:
major histocompatibility complex, class II, DO beta [Source:HGNC Symbol;Acc:4937]
major histocompatibility complex, class II, DP beta 1 [Source:HGNC Symbol;Acc:4940]
major histocompatibility complex, class II, DP beta 2 (pseudogene) [Source:HGNC Symbol;Acc:4941]
major histocompatibility complex, class II, DQ beta 1 [Source:HGNC Symbol;Acc:4944]
major histocompatibility complex, class II, DQ beta 2 [Source:HGNC Symbol;Acc:4945]
major histocompatibility complex, class II, DR beta 1 [Source:HGNC Symbol;Acc:4948]
major histocompatibility complex, class II, DR beta 5 [Source:HGNC Symbol;Acc:4953]
Mouse Orthologues:
H2-Ab1, H2-Eb1, H2-Eb2, H2-Ob
Mouse Descriptions:
histocompatibility 2, class II antigen A, beta 1 Gene [Source:MGI Symbol;Acc:MGI:103070]
histocompatibility 2, class II antigen E beta Gene [Source:MGI Symbol;Acc:MGI:95901]
histocompatibility 2, class II antigen E beta2 Gene [Source:MGI Symbol;Acc:MGI:95902]
histocompatibility 2, O region beta locus Gene [Source:MGI Symbol;Acc:MGI:95925]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa41281 Nonsense Mutation detected in F1 DNA During 2017
sa15018 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa41281
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:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000123658 Nonsense 32 244 2 4
Genomic Location (Zv9):
Chromosome 8 (position 45773694)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 44369863
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TTTGTTATTTTTCAGTATGTGGAAATTACGGCTATCTTCAAAGTCAATGT[C/T]GAGTACTGAGCTCTACAAAGAAAGTTGAGCTCATCTTCTCATTCATCTTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa15018
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
Mutation:
A > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000123658 Essential Splice Site 112 244 3 4
Genomic Location (Zv9):
Chromosome 8 (position 45774044)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 44369513
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ATTGATATTTTGGTTAAATTTGATTCATGTCTAATTTTATTCACTTCTAC[A/T]GTGAAACCAGAAGTCATTRTTCGGKCAGTTACTGAAGCTAAAGGCAATCA
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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