Tmem117 - SNV Details



 Gene Information 
Gene Name Tmem117
Old Gene Names for Tmem117 B930062p21rik
Gene Description transmembrane protein 117 [Source:MGI Symbol;Acc:MGI:2444580]
Uniprot Name
CCDS Name
Gene GO
integral to membrane; endoplasmic reticulum; biological_process; molecular_function
Homolog in other species TMEM117
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
LOW/MEDIAN(HIGH IN TESTIS, FERTILIZEDEGG, OOCYTE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000063296
Chromosome 15
Coordinate 95,094,664     (Assembly: GRCm38)    
Ref Base A
Codon Change Ata/Tta
Var Base T
Zygosity Heterozygous
Read Depth 49
Allele Frequency
A:R0.57
T:V0.43
Amino Acid Position 402
Amino Acid Change I->L (Isoleucine -> Leucine)
Sample ID IGL01528
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 38 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 1
Sift Prediction tolerated

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved