Sox30 - SNV Details



 Gene Information 
Gene Name Sox30
Gene Description SRY-box containing gene 30 [Source:MGI Symbol;Acc:MGI:1341157]
Uniprot Name
CCDS Name
Gene GO
sequence-specific DNA binding; transcription from RNA polymerase II promoter; spermatogenesis; sequence-specific DNA binding RNA polymerase II transcription factor activity; regulation of transcription from RNA polymerase II promoter; protein binding; nucleus; response to corticosteroid stimulus
Homolog in other species SOX30
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
MEDIAN(HIGH IN TESTIS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000040489
Chromosome 11
Coordinate 45,981,342     (Assembly: GRCm38)    
Ref Base T
Codon Change gaT/gaA
Var Base A
Zygosity Heterozygous
Read Depth 36
Allele Frequency
T:R0.50
A:V0.50
Amino Acid Position 341
Amino Acid Change D->E (Aspartic acid -> Glutamic acid)
Sample ID IGL01449
Median Base Quality 38.5
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 42 Other Mutations

 Predictions 
Polyphen Score 0.9
Polyphen Prediction Possibly damaging
Sift Score 0
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved