Abhd5 - SNV Details



 Human Rare Diseases 
Dorfman-Chanarin disease

 Gene Information 
Gene Name Abhd5
Old Gene Names for Abhd5 2010002j10rik , 1300003d03rik
Gene Description abhydrolase domain containing 5 [Source:MGI Symbol;Acc:MGI:1914719]
MGI phenotype Mice homozygous for a knock-out allele exhibit growth retardation, impaired triacylglycerol catabolism, hepatic steatosis, and lethal skin barrier defect.
Uniprot Name
CCDS Name
Gene GO
cell differentiation; 1-acylglycerol-3-phosphate O-acyltransferase activity; lipid metabolic process; lipid particle; hydrolase activity; fatty acid metabolic process; lysophosphatidic acid acyltransferase activity; positive regulation of triglyceride catabolic process; protein binding; peptidase activity; cytosol; proteolysis; negative regulation of sequestering of triglyceride; positive regulation of lipoprotein lipase activity; phosphatidic acid biosynthetic process
Homolog in other species ABHD5
Omim http://omim.org/entry/604780
Immgen Expression
MEDIAN(HIGH IN GN.BM)
Gnf Expression
MEDIAN(HIGH IN FERTILIZEDEGG, OOCYTE, IMM.G3, OSTEO GROUP, C2C12, UMBLICALCORD, NIH.3T3)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000032540
Chromosome 9
Coordinate 122,365,213     (Assembly: GRCm38)    
Ref Base T
Codon Change aTg/aCg
Var Base C
Zygosity Heterozygous
Read Depth 33
Allele Frequency
T:R0.48
C:V0.52
Amino Acid Position 44
Amino Acid Change M->T (Methionine -> Threonine)
Sample ID IGL02143
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 53 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 0
Sift Prediction deleterious

 Availability Details 
Availability Progeny Cryopreserved