Ppm1d - SNV Details



 Gene Information 
Gene Name Ppm1d
Old Gene Names for Ppm1d Av338790
Gene Description protein phosphatase 1D magnesium-dependent, delta isoform [Source:MGI Symbol;Acc:MGI:1858214]
MGI phenotype Homozygous null male mice show some embryonic lethality. Surviving males have variable abnormalities including runting, reproductive organ atrophy with associated reduced fertility, and reduced life span. Both genders have increased susceptibility to viral infection and reduced lymphocyte function.
Uniprot Name
CCDS Name
Gene GO
catalytic activity; dephosphorylation; response to bacterium; metal ion binding; protein binding; magnesium-dependent protein serine/threonine phosphatase activity; G2/M transition of mitotic cell cycle; protein serine/threonine phosphatase activity; peptidyl-threonine dephosphorylation
Homolog in other species PPM1D
Omim http://omim.org/entry/605100
Immgen Expression
MEDIAN(LOWER IN MYELOID GROUP AND DC.LC.SK)
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
Gnf Expression
LOW/MEDIAN
HIGH
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000020525
Chromosome 11
Coordinate 85,326,944     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 55
Allele Frequency
A:R0.53
G:V0.47
Amino Acid Change M->V (Methionine -> Valine)
Sample ID IGL02885
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 47 Other Mutations

 Predictions 
Polyphen Score 0.94
Polyphen Prediction Possibly damaging

 Availability Details 
Availability Progeny Cryopreserved