Apob - SNV Details



 Human Rare Diseases 
Abetalipoproteinemia

 Gene Information 
Gene Name Apob
Old Gene Names for Apob Ai315052
Gene Description apolipoprotein B [Source:MGI Symbol;Acc:MGI:88052]
MGI phenotype Homozygous null mutants usually die by midgestation and longer survivors exhibit exencephaly. Heterozygotes show reduced plasma cholesterol and apolipoprotein levels. Single isoform B100 and B48 null mutants are viable.
Uniprot Name
CCDS Name
Gene GO
lipoprotein transport; lipoprotein metabolic process; cellular response to prostaglandin stimulus; mature chylomicron; response to lipopolysaccharide; enzyme binding; lipid metabolic process; regulation of cholesterol biosynthetic process; nervous system development; vesicle lumen; lipid transporter activity; spermatogenesis; cholesterol metabolic process; fertilization; cytoplasm; chylomicron; triglyceride mobilization; response to selenium ion; low-density lipoprotein particle receptor binding; response to organic substance; response to virus; cholesterol efflux; endoplasmic reticulum; cholesterol homeostasis; cholesterol transporter activity; intermediate-density lipoprotein particle; intracellular membrane-bounded organelle; protein binding; positive regulation of macrophage derived foam cell differentiation; lipoprotein catabolic process; lipid binding; positive regulation of cholesterol storage; low-density lipoprotein particle clearance; post-embryonic development; in utero embryonic development; lipid transport; cellular response to tumor necrosis factor; triglyceride catabolic process; heparin binding; artery morphogenesis; response to carbohydrate stimulus; lipid catabolic process; positive regulation of lipid storage; low-density lipoprotein particle remodeling; sperm motility; lipoprotein biosynthetic process; low-density lipoprotein particle; phospholipid binding; very-low-density lipoprotein particle; vesicle membrane; extracellular space; cholesterol transport; protein heterodimerization activity
Homolog in other species APOB
Omim http://omim.org/entry/107730
Immgen Expression
MEDIAN(LOWER IN TGD.VG5+.ACT.IEL)
Gnf Expression
LOW/MEDIAN(HIGH IN KIDNEY, LIVER, SMALLINTESTINE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000020609
Chromosome 12
Coordinate 7,992,979     (Assembly: GRCm38)    
Ref Base G
Var Base T
Zygosity Heterozygous
Read Depth 44
Allele Frequency
G:R0.48
T:V0.52
Amino Acid Change V->F (Valine -> Phenylalanine)
Sample ID IGL02513
Median Base Quality 39.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 32 Other Mutations

 Predictions 
Polyphen Score 0.71
Polyphen Prediction Possibly damaging
Druggable Yes, View known drug interactions

 Availability Details 
Availability Progeny Cryopreserved