Ppef1 - SNV Details



 Gene Information 
Gene Name Ppef1
Gene Description protein phosphatase with EF hand calcium-binding domain 1 [Source:MGI Symbol;Acc:MGI:1097157]
MGI phenotype Homozygous null female and hemizygous null male mice are viable, fertile and display no overt abnormalities.
Uniprot Name
CCDS Name
Gene GO
hydrolase activity; phosphoprotein phosphatase activity; manganese ion binding; protein binding; protein serine/threonine phosphatase activity; calcium ion binding; detection of stimulus involved in sensory perception; iron ion binding
Homolog in other species PPEF1
Omim http://omim.org/entry/300109
Immgen Expression
LOW
Gnf Expression
MEDIAN(HIGHER IN TESTIS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000062168
Chromosome X
Coordinate 160,685,294     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 27
Allele Frequency
A:R0.33
G:V0.67
Amino Acid Change I->T (Isoleucine -> Threonine)
Sample ID IGL00966
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 55 Other Mutations

 Predictions 
Polyphen Score 0.01
Polyphen Prediction Benign

 Availability Details 
Availability Progeny Cryopreserved