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 Splice
Ensembl ID ENSMUSG00000035459
Chromosome 10
Coordinate 86,940,613     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 22
Allele Frequency
A:R0.55
G:V0.46
Amino Acid Change Disrupted splicing
Splice Position 6
Sample ID IGL01503
Median Base Quality 35.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 40 Other Mutations

 Predictions 

 Availability Details 
Availability Progeny Cryopreserved