BC049635 - SNV Details



 Gene Information 
Gene Name Bc049635
Gene Description cDNA sequence BC049635 [Source:MGI Symbol;Acc:MGI:2679716]
Uniprot Name
CCDS Name
Gene GO
integral to membrane; cellular_component; biological_process; molecular_function
Immgen Expression
LOW
Gnf Expression
MEDIAN(HIGH IN TESTIS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000050141
Chromosome 4
Coordinate 42,868,549     (Assembly: GRCm38)    
Ref Base T
Codon Change gAt/gGt
Var Base C
Zygosity Heterozygous
Read Depth 34
Allele Frequency
T:R0.44
C:V0.56
Amino Acid Position 358
Amino Acid Change D->G (Aspartic acid -> Glycine)
Sample ID IGL02413
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 33 Other Mutations

 Predictions 
Polyphen Score 0.94
Polyphen Prediction Possibly damaging
Sift Score 0.2
Sift Prediction tolerated

 Availability Details 
Availability Progeny Cryopreserved