Incidental Mutation 'R4347:Acox1'
ID 328376
Institutional Source Beutler Lab
Gene Symbol Acox1
Ensembl Gene ENSMUSG00000020777
Gene Name acyl-Coenzyme A oxidase 1, palmitoyl
Synonyms Acyl-CoA oxidase, AOX, D130055E20Rik
MMRRC Submission 041102-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.323) question?
Stock # R4347 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 116062714-116089605 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 116089487 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 15 (N15S)
Ref Sequence ENSEMBL: ENSMUSP00000072717 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021130] [ENSMUST00000066587] [ENSMUST00000072948]
AlphaFold Q9R0H0
Predicted Effect probably benign
Transcript: ENSMUST00000021130
SMART Domains Protein: ENSMUSP00000021130
Gene: ENSMUSG00000020778

DomainStartEndE-ValueType
Pfam:Ten1_2 2 118 1.6e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000066587
AA Change: N15S

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000063325
Gene: ENSMUSG00000020777
AA Change: N15S

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 benign
Transcript: ENSMUST00000072948
AA Change: N15S

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000072717
Gene: ENSMUSG00000020777
AA Change: N15S

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: ENSMUST00000124663
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124684
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146066
Meta Mutation Damage Score 0.0800 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (32/32)
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921536K21Rik C T 11: 3,840,122 (GRCm39) V92M probably damaging Het
4930503E14Rik C A 14: 44,408,635 (GRCm39) R66S probably damaging Het
Abca5 A T 11: 110,190,794 (GRCm39) I772N probably damaging Het
Arhgap28 C T 17: 68,180,137 (GRCm39) V233I probably benign Het
Chil4 T C 3: 106,110,144 (GRCm39) I317V probably benign Het
Dvl3 G A 16: 20,350,049 (GRCm39) R645H possibly damaging Het
Efl1 A T 7: 82,347,174 (GRCm39) M567L probably damaging Het
Gal3st2b C T 1: 93,867,530 (GRCm39) T59I probably damaging Het
Gm7135 T A 1: 97,276,035 (GRCm39) noncoding transcript Het
Gpihbp1 T G 15: 75,470,017 (GRCm39) *124G probably null Het
Igkv10-96 T A 6: 68,609,164 (GRCm39) R44W probably benign Het
Igkv13-84 T A 6: 68,916,760 (GRCm39) I19K probably benign Het
Kcnab1 A G 3: 65,204,896 (GRCm39) probably benign Het
Kif1b C A 4: 149,331,691 (GRCm39) G545C probably damaging Het
Mprip T C 11: 59,650,279 (GRCm39) S1328P possibly damaging Het
Nrp1 T C 8: 129,207,472 (GRCm39) probably null Het
Olfml1 C T 7: 107,167,040 (GRCm39) P23L probably benign Het
Plekhh2 G A 17: 84,927,130 (GRCm39) A1457T probably benign Het
Prr27 A G 5: 87,990,531 (GRCm39) I40V possibly damaging Het
Slc25a54 A G 3: 109,010,055 (GRCm39) T185A possibly damaging Het
Srek1 C T 13: 103,885,267 (GRCm39) G396D probably null Het
Syvn1 C T 19: 6,099,951 (GRCm39) probably benign Het
Trim3 C T 7: 105,268,594 (GRCm39) G120D probably damaging Het
Usp5 T A 6: 124,798,158 (GRCm39) Q409L probably damaging Het
Vim T G 2: 13,580,329 (GRCm39) probably benign Het
Other mutations in Acox1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00594:Acox1 APN 11 116,065,331 (GRCm39) splice site probably benign
IGL02096:Acox1 APN 11 116,069,024 (GRCm39) missense probably damaging 0.99
IGL03128:Acox1 APN 11 116,072,829 (GRCm39) missense probably damaging 1.00
R0535:Acox1 UTSW 11 116,065,264 (GRCm39) missense possibly damaging 0.73
R1718:Acox1 UTSW 11 116,065,508 (GRCm39) nonsense probably null
R1728:Acox1 UTSW 11 116,089,109 (GRCm39) splice site probably null
R1971:Acox1 UTSW 11 116,089,087 (GRCm39) missense probably benign 0.05
R3770:Acox1 UTSW 11 116,065,213 (GRCm39) missense probably damaging 1.00
R4836:Acox1 UTSW 11 116,066,152 (GRCm39) missense probably benign 0.05
R5551:Acox1 UTSW 11 116,080,317 (GRCm39) missense possibly damaging 0.73
R6662:Acox1 UTSW 11 116,066,149 (GRCm39) missense probably damaging 1.00
R6685:Acox1 UTSW 11 116,071,174 (GRCm39) nonsense probably null
R7453:Acox1 UTSW 11 116,071,787 (GRCm39) missense probably benign 0.41
R7468:Acox1 UTSW 11 116,069,001 (GRCm39) missense possibly damaging 0.87
R7750:Acox1 UTSW 11 116,074,406 (GRCm39) missense possibly damaging 0.51
R8346:Acox1 UTSW 11 116,069,099 (GRCm39) missense possibly damaging 0.74
R8798:Acox1 UTSW 11 116,065,183 (GRCm39) missense probably damaging 1.00
R8944:Acox1 UTSW 11 116,066,040 (GRCm39) missense probably damaging 1.00
R9058:Acox1 UTSW 11 116,080,268 (GRCm39) missense possibly damaging 0.75
R9164:Acox1 UTSW 11 116,089,173 (GRCm39) missense probably benign 0.03
R9189:Acox1 UTSW 11 116,065,231 (GRCm39) missense probably damaging 1.00
R9373:Acox1 UTSW 11 116,065,173 (GRCm39) missense possibly damaging 0.91
R9668:Acox1 UTSW 11 116,089,137 (GRCm39) nonsense probably null
R9766:Acox1 UTSW 11 116,071,867 (GRCm39) missense probably damaging 0.99
Z1177:Acox1 UTSW 11 116,074,371 (GRCm39) nonsense probably null
Z1177:Acox1 UTSW 11 116,065,891 (GRCm39) missense probably benign 0.00
Z1177:Acox1 UTSW 11 116,065,889 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TAGAACAGAGGACGTTCCCC -3'
(R):5'- ACCTTGCTTTCCTTGGCGAG -3'

Sequencing Primer
(F):5'- GAGGACGTTCCCCTCCTAATC -3'
(R):5'- TACCAGCGTCGGGGATTG -3'
Posted On 2015-07-07