Stab1 - SNV Details



 Gene Information 
Gene Name Stab1
Gene Description stabilin 1 [Source:MGI Symbol;Acc:MGI:2178742]
MGI phenotype Mice homozygous for a knock-out allele exhibit no physical or behavioral abnormalities.
Uniprot Name
CCDS Name
Gene GO
cell-cell signaling; cytoplasm; cell adhesion; hyaluronic acid binding; protein binding; low-density lipoprotein receptor activity; defense response to bacterium; receptor-mediated endocytosis; integral component of plasma membrane; low-density lipoprotein particle binding; calcium ion binding; negative regulation of angiogenesis; scavenger receptor activity
Homolog in other species STAB1
Immgen Expression
MEDIAN(HIGH IN TGD.VG5+.ACT.IEL, NK GROUP, T.8EFF.SP.OT1.D6.VSVOVA, DC.LC.SK, MYELOID GROUP)
Gnf Expression
LOW/MEDIAN(HIGH IN IMM GROUP, OSTEO GROUP)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000042286
Chromosome 14
Coordinate 31,159,326     (Assembly: GRCm38)    
Ref Base C
Var Base T
Zygosity Heterozygous
Read Depth 28
Allele Frequency
C:R0.57
T:V0.43
Amino Acid Change Disrupted splicing
Splice Position 7
Sample ID IGL03286
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 52 Other Mutations

 Predictions 

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved