Apba1 - SNV Details



 Gene Information 
Gene Name Apba1
Old Gene Names for Apba1 6430513e09rik
Gene Description amyloid beta (A4) precursor protein binding, family A, member 1 [Source:MGI Symbol;Acc:MGI:1860297]
MGI phenotype Animals carrying a homozygous mutation of this gene have reduced body size.
Uniprot Name
CCDS Name
Gene GO
gamma-aminobutyric acid secretion; perinuclear region of cytoplasm; synaptic transmission; membrane; beta-amyloid binding; glutamate secretion; regulation of gene expression; protein complex; protein binding; intracellular protein transport; nucleus; in utero embryonic development; multicellular organism growth; PDZ domain binding; protein complex binding; phosphatidylinositol-4
5-bisphosphate binding; plasma membrane; locomotory behavior; Golgi apparatus
Homolog in other species APBA1
Omim http://omim.org/entry/602414
Immgen Expression
MEDIAN(HIGH IN DC GROUP, MYELOID GROUP, BCELL GROUP)
Gnf Expression
HIGH
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000024897
Chromosome 19
Coordinate 23,937,581     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 25
Allele Frequency
A:R0.68
G:V0.32
Amino Acid Change N->S (Asparagine -> Serine)
Sample ID IGL03410
Median Base Quality 35
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 53 Other Mutations

 Predictions 
Polyphen Score 0.68
Polyphen Prediction Possibly damaging

 Availability Details 
Availability Cryopreserved