Pi4ka - SNV Details



 Gene Information 
Gene Name Pi4ka
Old Gene Names for Pi4ka Pik4ca
Gene Description phosphatidylinositol 4-kinase, catalytic, alpha polypeptide [Source:MGI Symbol;Acc:MGI:2448506]
Uniprot Name
CCDS Name
Gene GO
kinase activity; phosphatidylinositol phosphorylation; transferase activity
transferring phosphorus-containing groups; protein binding; binding; phosphotransferase activity
alcohol group as acceptor; phosphatidylinositol-mediated signaling
Homolog in other species PI4KA
Omim http://omim.org/entry/600286
Immgen Expression
HIGH
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000041720
Chromosome 16
Coordinate 17,309,358     (Assembly: GRCm38)    
Ref Base T
Codon Change gAc/gGc
Var Base C
Zygosity Heterozygous
Read Depth 76
Allele Frequency
T:R0.58
C:V0.42
Amino Acid Position 1077
Amino Acid Change D->G (Aspartic acid -> Glycine)
Sample ID IGL01505
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 60 Other Mutations

 Predictions 
Polyphen Score 0.04
Polyphen Prediction Benign
Sift Score 0.11
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Availability Details 
Availability Progeny Cryopreserved