Angptl6 - SNV Details



 Gene Information 
Gene Name Angptl6
Old Gene Names for Angptl6 6330404e11rik
Gene Description angiopoietin-like 6 [Source:MGI Symbol;Acc:MGI:1917976]
MGI phenotype Most mice homozygous for a knock-out allele die around E13 with cardiovascular defects; survivors develop obesity, lipid accumulation in skeletal muscle and liver, hyperglycemia and hyperinsulinemia, and insulin resistance accompanied by reduced energy expenditure and whole-body oxygen consumption.
Uniprot Name
CCDS Name
Gene GO
cell differentiation; signal transduction; angiogenesis; receptor binding; secretory granule; extracellular space
Homolog in other species ANGPTL6
Omim http://omim.org/entry/609336
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
Gnf Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000038742
Chromosome 9
Coordinate 20,873,907     (Assembly: GRCm38)    
Ref Base A
Codon Change aTg/aAg
Var Base T
Zygosity Heterozygous
Read Depth 50
Allele Frequency
A:R0.46
T:V0.54
Amino Acid Position 450
Amino Acid Change M->K (Methionine -> Lysine)
Sample ID IGL02222
Median Base Quality 36
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 32 Other Mutations

 Predictions 
Polyphen Score 0.79
Polyphen Prediction Possibly damaging
Sift Score 0
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Availability Details 
Availability Progeny Cryopreserved