Pikfyve - SNV Details



 Human Rare Diseases 
Fleck corneal dystrophy

 Gene Information 
Gene Name Pikfyve
Old Gene Names for Pikfyve Pip5k3 , 5230400c17rik
Gene Description phosphoinositide kinase, FYVE finger containing [Source:MGI Symbol;Acc:MGI:1335106]
MGI phenotype Mice homozygous for a knock-out allele die prior to implantation with reduced cell numbers in the inner cell mass and trophectoderm and failure to form or maintain the blastocoele.
Uniprot Name
CCDS Name
Gene GO
intracellular signal transduction; perinuclear region of cytoplasm; endosome membrane; 1-phosphatidylinositol-5-kinase activity; cytoplasmic vesicle membrane; phosphatidylinositol metabolic process; Golgi membrane; retrograde transport
endosome to Golgi; myelin assembly; phosphatidylinositol phosphate kinase activity; metal ion binding; zinc ion binding; membrane raft; protein binding; 1-phosphatidylinositol-3-phosphate 5-kinase activity; early endosome membrane; cytosol; late endosome membrane; cytoplasmic vesicle; cellular protein metabolic process; ATP binding; protein localization to nucleus; vesicle membrane; 1-phosphatidylinositol-4-phosphate 5-kinase activity
Homolog in other species PIKFYVE
Omim http://omim.org/entry/609414
Immgen Expression
MEDIAN/HIGH(HIGH IN BCELL GROUP, MYELOID GROUP, DC GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000025949
Chromosome 1
Coordinate 65,252,569     (Assembly: GRCm38)    
Ref Base A
Codon Change Aga/Gga
Var Base G
Zygosity Heterozygous
Read Depth 66
Allele Frequency
A:R0.58
G:V0.41
Amino Acid Position 1271
Amino Acid Change R->G (Arginine -> Glycine)
Sample ID IGL02400
Median Base Quality 41
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 29 Other Mutations

 Predictions 
Polyphen Score 0.7
Polyphen Prediction Possibly damaging
Sift Score 0.23
Sift Prediction tolerated

 Availability Details 
Availability Progeny Cryopreserved