Pet112 - SNV Details



 Gene Information 
Gene Name Pet112
Gene Description PET112 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2442496]
Uniprot Name
CCDS Name
Gene GO
mitochondrion; glutaminyl-tRNAGln biosynthesis via transamidation; glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity; mitochondrial translation; glutamyl-tRNA(Gln) amidotransferase complex; ATP binding; ligase activity; carbon-nitrogen ligase activity
with glutamine as amido-N-donor
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000028085
Chromosome 3
Coordinate 85,618,916     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 12
Allele Frequency
A:R0.58
G:V0.42
Amino Acid Change D->G (Aspartic acid -> Glycine)
Sample ID IGL02992
Median Base Quality 35
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 48 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Progeny Cryopreserved