Stab2 - SNV Details



 Gene Information 
Gene Name Stab2
Gene Description stabilin 2 [Source:MGI Symbol;Acc:MGI:2178743]
MGI phenotype Mice homozygous for a knock-out allele exhibit no physical or behavioral abnormalities.
Uniprot Name
CCDS Name
Gene GO
bacterial cell surface binding; cytoplasm; cell adhesion; defense response; hyaluronic acid binding; integral to plasma membrane; external side of plasma membrane; protein binding; Gram-negative bacterial cell surface binding; low-density lipoprotein receptor activity; defense response to bacterium; low-density lipoprotein particle binding; calcium ion binding; endocytosis; scavenger receptor activity
Homolog in other species STAB2
Immgen Expression
MEDIAN
Gnf Expression
MEDIAN(HIGH IN LIVER)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000035459
Chromosome 10
Coordinate 86,969,277     (Assembly: GRCm38)    
Ref Base T
Codon Change gAt/gGt
Var Base C
Zygosity Heterozygous
Read Depth 23
Allele Frequency
T:R0.35
C:V0.65
Amino Acid Position 279
Amino Acid Change D->G (Aspartic acid -> Glycine)
Sample ID IGL01671
Median Base Quality 35
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 25 Other Mutations

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

 Availability Details 
Availability Cryopreserved