Pip5kl1 - SNV Details



 Gene Information 
Gene Name Pip5kl1
Old Gene Names for Pip5kl1 Bc028795
Gene Description phosphatidylinositol-4-phosphate 5-kinase-like 1 [Source:MGI Symbol;Acc:MGI:2448520]
Uniprot Name
CCDS Name
Gene GO
membrane; phosphatidylinositol metabolic process; cytoplasm; phosphatidylinositol phosphate kinase activity; cell projection; protein binding; ATP binding; 1-phosphatidylinositol-4-phosphate 5-kinase activity
Homolog in other species PIP5KL1
Omim http://omim.org/entry/612865
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
LOW
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000046854
Chromosome 2
Coordinate 32,583,347     (Assembly: GRCm38)    
Ref Base C
Var Base A
Zygosity Heterozygous
Read Depth 16
Allele Frequency
C:R0.56
A:V0.44
Amino Acid Change A->D (Alanine -> Aspartic acid)
Sample ID IGL00990
Median Base Quality 37
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 151 Other Mutations

 Predictions 
Polyphen Score 0.14
Polyphen Prediction Benign

 Availability Details 
Availability Cryopreserved