Wwox - SNV Details



 Human Rare Diseases 
46,XY partial gonadal dysgenesis

 Gene Information 
Gene Name Wwox
Old Gene Names for Wwox 9030416c10rik
Gene Description WW domain-containing oxidoreductase [Source:MGI Symbol;Acc:MGI:1931237]
MGI phenotype Homozygous mutation of this gene results in premature death and increased incidence of tumor development. Reduced male fertility and testicular atrophy are also observed in mice with a hypomorphic allele.
Uniprot Name
CCDS Name
Gene GO
mitochondrion; Wnt receptor signaling pathway; enzyme binding; oxidoreductase activity; apoptotic process; positive regulation of transcription from RNA polymerase II promoter; cytoplasm; positive regulation of apoptotic process; cellular response to transforming growth factor beta stimulus; induction of apoptosis; metabolic process; RNA polymerase II transcription coactivator activity; protein binding; nucleus; cytosol; microvillus; skeletal system morphogenesis; nucleotide binding; negative regulation of Wnt receptor signaling pathway; plasma membrane; Golgi apparatus; osteoblast differentiation
Homolog in other species WWOX
Omim http://omim.org/entry/605131
Immgen Expression
MEDIAN(HIGH IN DC.PDC.8-.SP, DC.PDC.8+.SP)
Gnf Expression
HIGH
LOW/MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000004637
Chromosome 8
Coordinate 114,712,142     (Assembly: GRCm38)    
Ref Base T
Codon Change gTc/gCc
Var Base C
Zygosity Heterozygous
Read Depth 154
Allele Frequency
T:R0.53
C:V0.47
Amino Acid Position 316
Amino Acid Change V->A (Valine -> Alanine)
Sample ID IGL02350
Median Base Quality 35
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 50 Other Mutations

 Predictions 
Polyphen Score 0.95
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved