Incidental Mutation 'IGL03128:Acox1'
ID410221
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acox1
Ensembl Gene ENSMUSG00000020777
Gene Nameacyl-Coenzyme A oxidase 1, palmitoyl
SynonymsAOX, Acyl-CoA oxidase, D130055E20Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.342) question?
Stock #IGL03128
Quality Score
Status
Chromosome11
Chromosomal Location116171888-116199045 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 116182003 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Methionine at position 114 (L114M)
Ref Sequence ENSEMBL: ENSMUSP00000122185 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066587] [ENSMUST00000072948] [ENSMUST00000148601]
Predicted Effect probably damaging
Transcript: ENSMUST00000066587
AA Change: L150M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063325
Gene: ENSMUSG00000020777
AA Change: L150M

DomainStartEndE-ValueType
Pfam:Acyl-CoA_ox_N 15 133 4.4e-39 PFAM
Pfam:Acyl-CoA_dh_M 135 245 3e-13 PFAM
SCOP:d1is2a1 272 460 1e-43 SMART
Pfam:ACOX 479 659 6.4e-62 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000072948
AA Change: L150M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072717
Gene: ENSMUSG00000020777
AA Change: L150M

DomainStartEndE-ValueType
Pfam:Acyl-CoA_ox_N 15 133 6.8e-38 PFAM
Pfam:Acyl-CoA_dh_M 135 195 1.3e-8 PFAM
SCOP:d1is2a1 272 460 9e-44 SMART
Pfam:ACOX 476 661 4.4e-65 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128793
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130229
Predicted Effect probably damaging
Transcript: ENSMUST00000148601
AA Change: L114M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122185
Gene: ENSMUSG00000020777
AA Change: L114M

DomainStartEndE-ValueType
Pfam:Acyl-CoA_ox_N 48 97 9.7e-15 PFAM
Pfam:Acyl-CoA_dh_M 99 159 7.3e-9 PFAM
SCOP:d1is2a1 236 424 4e-44 SMART
Pfam:ACOX 440 625 1.7e-65 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150549
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the acyl-coenzyme A oxidase family. The encoded protein is localized to peroxisomes and is the first enzyme of the fatty acid beta-oxidation pathway, which catalyzes the desaturation of acyl-coenzyme A to 2-trans-enoyl-coenzyme A. Disruption of this gene results in microvesicular steatohepatitis, spontaneous peroxisome proliferation, and the eventual development of hepatocellular carcinomas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
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. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bahcc1 G A 11: 120,268,434 probably benign Het
Btrc T A 19: 45,513,520 I226N probably damaging Het
Cth C T 3: 157,921,035 G56D probably damaging Het
Dkk2 T C 3: 132,177,860 probably benign Het
Dock3 A T 9: 107,032,292 M271K probably benign Het
Fam78b T A 1: 167,078,941 L223Q probably damaging Het
Fgl2 A T 5: 21,373,293 M193L probably benign Het
Ifi205 A T 1: 174,015,086 V348E probably damaging Het
Igkv4-70 T A 6: 69,268,014 K74N probably benign Het
Kdm3b A T 18: 34,827,427 K1355M probably damaging Het
Ltn1 A T 16: 87,415,944 N576K probably benign Het
Ms4a4c A T 19: 11,417,641 probably null Het
Nfic T C 10: 81,406,191 T328A probably benign Het
Npat T A 9: 53,550,033 probably benign Het
Nxpe2 T C 9: 48,319,498 I524V probably benign Het
Orc5 G T 5: 22,516,773 D360E probably damaging Het
Pappa2 C T 1: 158,936,484 E486K probably benign Het
Pde9a C T 17: 31,459,910 H216Y possibly damaging Het
Polr2k C A 15: 36,174,191 P31Q probably damaging Het
Prkdc G T 16: 15,700,744 probably benign Het
Raver1 A T 9: 21,080,742 L385Q probably damaging Het
Slc10a7 C A 8: 78,525,217 T80K probably damaging Het
Smg1 T C 7: 118,203,059 K272R probably benign Het
Supt20 A G 3: 54,708,287 I200V probably benign Het
Tbc1d9 A G 8: 83,166,085 N4S probably benign Het
Tor1aip1 A G 1: 156,007,035 S356P probably damaging Het
Trpm3 A G 19: 22,914,465 Y903C probably damaging Het
Vmn2r71 T G 7: 85,619,587 F333V probably damaging Het
Other mutations in Acox1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00594:Acox1 APN 11 116174505 splice site probably benign
IGL02096:Acox1 APN 11 116178198 missense probably damaging 0.99
R0535:Acox1 UTSW 11 116174438 missense possibly damaging 0.73
R1718:Acox1 UTSW 11 116174682 nonsense probably null
R1728:Acox1 UTSW 11 116198283 unclassified probably null
R1971:Acox1 UTSW 11 116198261 missense probably benign 0.05
R3770:Acox1 UTSW 11 116174387 missense probably damaging 1.00
R4347:Acox1 UTSW 11 116198661 missense probably benign 0.03
R4836:Acox1 UTSW 11 116175326 missense probably benign 0.05
R5551:Acox1 UTSW 11 116189491 missense possibly damaging 0.73
R6662:Acox1 UTSW 11 116175323 missense probably damaging 1.00
R6685:Acox1 UTSW 11 116180348 nonsense probably null
Posted On2016-08-02