Rfx8 - SNV Details



 Gene Information 
Gene Name Rfx8
Old Gene Names for Rfx8 4933400n17rik
Gene Description regulatory factor X 8 [Source:MGI Symbol;Acc:MGI:3588206]
Uniprot Name
CCDS Name
Gene GO
transcription
DNA-dependent; DNA binding; nucleus; cellular_component; regulation of transcription
DNA-dependent; biological_process; molecular_function
Homolog in other species RFX8
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000057173
Chromosome 1
Coordinate 39,718,480     (Assembly: GRCm38)    
Ref Base T
Codon Change Att/Gtt
Var Base C
Zygosity Heterozygous
Read Depth 52
Allele Frequency
T:R0.48
C:V0.52
Amino Acid Position 43
Amino Acid Change I->V (Isoleucine -> Valine)
Sample ID IGL02332
Median Base Quality 35
Backgrounds C57BL/6j
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 54 Other Mutations

 Predictions 
Polyphen Score 0.85
Polyphen Prediction Possibly damaging
Sift Score 0.18
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved