Peg10 - SNV Details



 Gene Information 
Gene Name Peg10
Old Gene Names for Peg10 Aa407948
Gene Description paternally expressed 10 [Source:MGI Symbol;Acc:MGI:2157785]
MGI phenotype Heterozygous mice with a paternally inherited null allele display embryonic lethality during organogenesis with abnormal placental development. Heterozygous mice with a maternally inherited null allele are viable and fertile.
Uniprot Name
CCDS Name
Gene GO
cell differentiation; negative regulation of transforming growth factor beta receptor signaling pathway; apoptotic process; cytoplasm; placenta development; zinc ion binding; DNA binding; protein binding; nucleus; nucleic acid binding
Homolog in other species PEG10
Omim http://omim.org/entry/609810
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
MEDIAN(HIGH IN UMBLICALCORD, PLACENTA, LUNG)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000092035
Chromosome 6
Coordinate 4,754,473     (Assembly: GRCm38)    
Ref Base G
Codon Change Gat/Tat
Var Base T
Zygosity Heterozygous
Read Depth 55
Allele Frequency
G:R0.47
T:V0.53
Amino Acid Position 85
Amino Acid Change D->Y (Aspartic acid -> Tyrosine)
Sample ID IGL02029
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 33 Other Mutations

 Predictions 
Polyphen Score 0.98
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved