Incidental Mutation 'R6662:Acox1'
ID 528031
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 044782-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.323) question?
Stock # R6662 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 116062714-116089605 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 116066149 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 418 (Y418H)
Ref Sequence ENSEMBL: ENSMUSP00000122185 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066587] [ENSMUST00000072948] [ENSMUST00000148601]
AlphaFold Q9R0H0
Predicted Effect probably damaging
Transcript: ENSMUST00000066587
AA Change: Y454H

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000063325
Gene: ENSMUSG00000020777
AA Change: Y454H

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: Y454H

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000072717
Gene: ENSMUSG00000020777
AA Change: Y454H

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: Y418H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122185
Gene: ENSMUSG00000020777
AA Change: Y418H

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
Meta Mutation Damage Score 0.7760 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 100% (46/46)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 A G 19: 57,062,285 (GRCm39) probably null Het
Akr1b1 C T 6: 34,286,939 (GRCm39) V206M possibly damaging Het
Aldh3a1 G A 11: 61,105,481 (GRCm39) V196I probably benign Het
Aox3 A G 1: 58,157,774 (GRCm39) K44E probably damaging Het
Bad T A 19: 6,928,438 (GRCm39) probably benign Het
BC034090 G T 1: 155,102,085 (GRCm39) Q60K possibly damaging Het
Casp6 A G 3: 129,705,875 (GRCm39) T181A probably benign Het
Catsperg2 G A 7: 29,418,938 (GRCm39) probably benign Het
Ccdc14 T C 16: 34,511,164 (GRCm39) L46P probably damaging Het
Ces1b A G 8: 93,790,697 (GRCm39) L364S probably benign Het
Cfap45 T C 1: 172,357,417 (GRCm39) I15T probably benign Het
Dph5 G A 3: 115,722,205 (GRCm39) E228K probably benign Het
Fat4 G T 3: 39,010,970 (GRCm39) L2023F possibly damaging Het
Garem1 T C 18: 21,281,304 (GRCm39) N351D probably benign Het
Grm2 C T 9: 106,525,252 (GRCm39) A488T probably benign Het
Ifit3b A G 19: 34,589,337 (GRCm39) E171G probably damaging Het
Il1rn A T 2: 24,226,887 (GRCm39) probably null Het
Itih5 A T 2: 10,253,992 (GRCm39) I748F probably benign Het
Kcnh5 C A 12: 75,054,385 (GRCm39) D520Y probably damaging Het
Mgat5 C A 1: 127,396,974 (GRCm39) H574N probably damaging Het
Moxd1 A C 10: 24,160,658 (GRCm39) D437A probably damaging Het
Mybpc2 A G 7: 44,155,590 (GRCm39) F888L probably benign Het
Ncs1 T A 2: 31,177,372 (GRCm39) L183Q probably damaging Het
Neto2 A T 8: 86,389,844 (GRCm39) D206E probably damaging Het
Omp A G 7: 97,794,546 (GRCm39) L27P probably damaging Het
Oxsm A G 14: 16,242,287 (GRCm38) S161P probably benign Het
Pate6 C A 9: 35,701,296 (GRCm39) R6M possibly damaging Het
Pde4b A G 4: 102,459,095 (GRCm39) I381M possibly damaging Het
Pramel5 A T 4: 143,999,675 (GRCm39) N137K probably benign Het
Prss33 T C 17: 24,052,934 (GRCm39) S247G probably damaging Het
Rassf9 T A 10: 102,381,899 (GRCm39) L425Q possibly damaging Het
Setx A T 2: 29,048,126 (GRCm39) D1909V probably damaging Het
Slc26a3 A T 12: 31,507,345 (GRCm39) K402* probably null Het
Slco1a6 G A 6: 142,078,941 (GRCm39) T118I probably damaging Het
Syne1 A G 10: 5,078,416 (GRCm39) L6769P probably damaging Het
Tas2r107 A T 6: 131,636,452 (GRCm39) V199D possibly damaging Het
Tchp A G 5: 114,858,076 (GRCm39) probably null Het
Trdn A T 10: 33,350,483 (GRCm39) N684I probably damaging Het
Trio G T 15: 27,855,082 (GRCm39) T700K probably benign Het
Ttn C T 2: 76,586,242 (GRCm39) V20084I probably benign Het
Ubl3 A T 5: 148,446,116 (GRCm39) Y62* probably null Het
Uckl1 A G 2: 181,215,053 (GRCm39) Y267H possibly damaging Het
Zfp1005 G A 2: 150,108,172 (GRCm39) probably null Het
Zfp786 T C 6: 47,803,920 (GRCm39) N41D probably damaging Het
Zfp983 T C 17: 21,881,001 (GRCm39) S310P probably damaging 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
R4347:Acox1 UTSW 11 116,089,487 (GRCm39) missense probably benign 0.03
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
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'- GCTGAGAAACCCATGGTTCTCAC -3'
(R):5'- TGACTCTAGCTGTATCAAGTTGAC -3'

Sequencing Primer
(F):5'- ATGGTTCTCACAGCTGACCTGG -3'
(R):5'- CATGAATTTAGCCAGGATAGCAC -3'
Posted On 2018-07-24