Rad51d - SNV Details



 Gene Information 
Gene Name Rad51d
Old Gene Names for Rad51d Rad51l3
Gene Description RAD51-like 3 (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1261809]
MGI phenotype Mice homozygous for disruptions in this gene die as embryos before E11.5.
Uniprot Name
CCDS Name
Gene GO
DNA metabolic process; DNA repair; DNA replication; DNA binding; DNA helicase activity; nucleoside-triphosphatase activity; nucleus; DNA recombination; nucleotide binding; ATP binding; DNA-dependent ATPase activity
Homolog in other species RAD51D
Omim http://omim.org/entry/602954
Immgen Expression
MEDIAN(LOW IN PROB.FRBC.FL, DC8+.TH, DC.LC.SK)
Gnf Expression
HIGH
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000018841
Chromosome 11
Coordinate 82,889,746     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 75
Allele Frequency
T:R0.56
C:V0.44
Amino Acid Change D->G (Aspartic acid -> Glycine)
Sample ID IGL00088
Median Base Quality 32
Backgrounds C57BL/6j
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 64 Other Mutations

 Predictions 
Polyphen Score 0.11
Polyphen Prediction Benign

 Availability Details 
Availability Cryopreserved