Pik3ap1 - SNV Details



 Gene Information 
Gene Name Pik3ap1
Old Gene Names for Pik3ap1 1810044j04rik
Gene Description phosphoinositide-3-kinase adaptor protein 1 [Source:MGI Symbol;Acc:MGI:1933177]
MGI phenotype Mice homozygous for disruptions in this gene have abnormalities in B cell maturation.
Uniprot Name
CCDS Name
Gene GO
cytoplasm; protein binding; plasma membrane; identical protein binding
Homolog in other species PIK3AP1
Immgen Expression
LOW(HIGH IN BCELL GROUP, MYELOID GROUP, DC GROUP)
Gnf Expression
MEDIAN(HIGH IN IMM.G1, IMM.G3)
LOW/MEDIAN(HIGH IN IMM GROUP, OSTEO GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000025017
Chromosome 19
Coordinate 41,324,579     (Assembly: GRCm38)    
Ref Base G
Codon Change gCc/gTc
Var Base A
Zygosity Heterozygous
Read Depth 46
Allele Frequency
G:R0.48
A:V0.52
Amino Acid Position 365
Amino Acid Change A->V (Alanine -> Valine)
Sample ID IGL01697
Median Base Quality 33.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 31 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000052777:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Ankyrin repeat-containing domain Ankyrin_rpt-contain_dom IPR020683 ENSMUSP00000052777 Superfamily 331
393 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved