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
1-phosphatidylinositol 4-kinase activity; membrane; Golgi-associated vesicle membrane; phosphatidylinositol phosphorylation; transferase activity
transferring phosphorus-containing groups; protein binding; binding; extracellular vesicular exosome; phosphotransferase activity
alcohol group as acceptor; phosphatidylinositol-mediated signaling; plasma membrane
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 17,295,461     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 23
Allele Frequency
A:R0.52
G:V0.48
Amino Acid Change F->L (Phenylalanine -> Leucine)
Sample ID IGL02667
Median Base Quality 37
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 27 Other Mutations

 Predictions 
Polyphen Score 0.24
Polyphen Prediction Benign
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved