LOC100331194

Ensembl ID:
ENSDARG00000074999
Human Orthologues:
AC009958.4, AC110080.2, AC110080.4, AC110080.7, AC110080.8, AC233264.1, AC233264.4, AC233264.6, AC233264.7, IGKC
Human Descriptions:
Ig kappa chain V-II region Cum [Source:UniProtKB/Swiss-Prot;Acc:P01614]
Ig kappa chain V-II region RPMI 6410 [Source:UniProtKB/Swiss-Prot;Acc:P06310]
immunoglobulin kappa constant [Source:HGNC Symbol;Acc:5716]
Mouse Orthologues:
AC140374.1, Gm10878, Gm16634, Gm16688, Gm16797, Gm16798, Gm16800, Gm16904, Gm16955, Gm4964, Gm4965, Gm5153, Gm5572, Gm6827, Gm6832, Igk-V
Mouse Descriptions:
immunoglobulin kappa chain complex variable region Complex/Cluster/Region [Source:MGI Symbol;Acc:MGI
predicted gene 10878 Gene [Source:MGI Symbol;Acc:MGI:3642626]
predicted gene 4964 Gene [Source:MGI Symbol;Acc:MGI:3819952]
predicted gene 4965 Gene [Source:MGI Symbol;Acc:MGI:3648800]
predicted gene 5153 Gene [Source:MGI Symbol;Acc:MGI:3644894]
predicted gene 5572 Gene [Source:MGI Symbol;Acc:MGI:3647785]
predicted gene 6827 Gene [Source:MGI Symbol;Acc:MGI:3648380]
predicted gene 6832 Gene [Source:MGI Symbol;Acc:MGI:3645551]
predicted gene, 16634 Gene [Source:MGI Symbol;Acc:MGI:4439558]
predicted gene, 16688 Gene [Source:MGI Symbol;Acc:MGI:4439612]
predicted gene, 16797 Gene [Source:MGI Symbol;Acc:MGI:4439721]
predicted gene, 16798 Gene [Source:MGI Symbol;Acc:MGI:4439722]
predicted gene, 16800 Gene [Source:MGI Symbol;Acc:MGI:4439724]
predicted gene, 16904 Gene [Source:MGI Symbol;Acc:MGI:4439828]
predicted gene, 16955 Gene [Source:MGI Symbol;Acc:MGI:4439879]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa6781 Essential Splice Site Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa6781
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 > G
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000056386 Essential Splice Site 51 120 3 3
Genomic Location:
Chromosome 24 (position 39713123)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CWCTCACTGTCCACTGCAGGACCAGCAGTGATCCAGWMAACTGGTGTAAT[A/G]GTAAACAGTGTGTTAGCTGGTAYTTACARAAACCYGGAGAAGCTCCTAAA
Associated Phenotype:
Not determined

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* quick link - http://q.sanger.ac.uk/socn1l9y