Acox1 - SNV Details



 Human Rare Diseases 
Peroxisomal acyl-CoA oxidase deficiency

 Gene Information 
Gene Name Acox1
Old Gene Names for Acox1 D130055e20rik , Ai042784
Gene Description acyl-Coenzyme A oxidase 1, palmitoyl [Source:MGI Symbol;Acc:MGI:1330812]
MGI phenotype Mice homozygous for a targeted mutation that inactivates the gene show growth retardation, infertility, excess very long chain fatty acids in the blood, and progressive liver disease, including hepatomegaly, and hepatic adenomas and carcinomas.
Uniprot Name
CCDS Name
Gene GO
oxidation-reduction process; mitochondrion; lipid metabolic process; membrane; spermatogenesis; generation of precursor metabolites and energy; cytoplasm; very long-chain fatty acid metabolic process; fatty acid binding; fatty acid metabolic process; acyl-CoA dehydrogenase activity; peroxisome fission; peroxisomal membrane; metabolic process; oxidoreductase activity
acting on the CH-CH group of donors; fatty acid oxidation; flavin adenine dinucleotide binding; PDZ domain binding; palmitoyl-CoA oxidase activity; positive regulation of cholesterol homeostasis; acyl-CoA oxidase activity; fatty acid beta-oxidation using acyl-CoA oxidase; lipid homeostasis; receptor binding; fatty acid beta-oxidation; peroxisome; prostaglandin metabolic process; protein N-terminus binding; FAD binding
Homolog in other species ACOX1
Omim http://omim.org/entry/609751
Immgen Expression
MEDIAN(HIGH IN TGD.VG5+.ACT.IEL, NK GROUP, T.8EFF.SP.OT1.D6.VSVOVA, DC.LC.SK, MYELOID GROUP)
MEDIAN(HIGHER IN B.GC.SP, PROB.FRBC.FL, PREB.FRD.FL, DC8+.TH, T.8EFF.SP.OT1.D6.VSVOVA, TGD.TH, DC.LC.SK, MF.THIO5.II-480HI.PC, MO.6C+II-.LN)
Gnf Expression
LOW
HIGH(LOWER IN FERTILIZED EGG, OOCYTE, PANCREAS, SPLEEN, BONE MARROW, THYROID)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000020777
Chromosome 11
Coordinate 116,182,003     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 23
Allele Frequency
A:R0.48
T:V0.52
Amino Acid Change L->M (Leucine -> Methionine)
Sample ID IGL03128
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 29 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved