mms22l

Ensembl ID:
ENSDARG00000074691
ZFIN ID:
ZDB-GENE-030131-3869
Description:
Uncharacterized protein C6orf167 homolog [Source:UniProtKB/Swiss-Prot;Acc:B3DIY3]
Human Orthologue:
MMS22L
Human Description:
MMS22-like, DNA repair protein [Source:HGNC Symbol;Acc:21475]
Mouse Orthologue:
F730047E07Rik
Mouse Description:
RIKEN cDNA F730047E07 gene Gene [Source:MGI Symbol;Acc:MGI:2684980]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa22888 Essential Splice Site Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa22888
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:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000110263 Essential Splice Site 1128 1240 22 24
ENSDART00000134381 Essential Splice Site 1128 1240 23 25
ENSDART00000143859 None None 52 None 2

The following transcripts of ENSDARG00000074691 do not overlap with this mutation:

Genomic Location:
Chromosome 16 (position 34596543)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AATTATATTTCATTATTTTTATTTAATCAAATGCCTGTTATTTTTCTTCA[G/A]TAAAAAGGCTGAGCTCAGAGGTTACACAGCTCATTGTGGAGAGGTGCACG
Associated Phenotype:
Not determined

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* quick link - http://q.sanger.ac.uk/7t5t8z8t