Incidental Mutation 'R6685:Acox1'
ID 527657
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 044804-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.323) question?
Stock # R6685 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 116062714-116089605 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 116071174 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 203 (Y203*)
Ref Sequence ENSEMBL: ENSMUSP00000122185 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066587] [ENSMUST00000072948] [ENSMUST00000148601]
AlphaFold Q9R0H0
Predicted Effect probably null
Transcript: ENSMUST00000066587
AA Change: Y239*
SMART Domains Protein: ENSMUSP00000063325
Gene: ENSMUSG00000020777
AA Change: Y239*

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 null
Transcript: ENSMUST00000072948
AA Change: Y239*
SMART Domains Protein: ENSMUSP00000072717
Gene: ENSMUSG00000020777
AA Change: Y239*

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 null
Transcript: ENSMUST00000148601
AA Change: Y203*
SMART Domains Protein: ENSMUSP00000122185
Gene: ENSMUSG00000020777
AA Change: Y203*

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
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.3%
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy5 A G 16: 35,099,586 (GRCm39) N712S possibly damaging Het
Adgrb3 G A 1: 25,150,817 (GRCm39) Q1139* probably null Het
Casc3 A G 11: 98,713,356 (GRCm39) K257E probably damaging Het
Ccn5 A G 2: 163,670,868 (GRCm39) D125G possibly damaging Het
Cttnbp2nl G T 3: 104,912,814 (GRCm39) Q357K probably benign Het
Dcst1 A C 3: 89,264,180 (GRCm39) V345G possibly damaging Het
Dsg3 G A 18: 20,653,672 (GRCm39) probably null Het
Ehbp1 A G 11: 22,096,641 (GRCm39) C308R probably benign Het
Etaa1 G T 11: 17,903,582 (GRCm39) D71E probably benign Het
Flg T C 3: 93,186,716 (GRCm39) V56A possibly damaging Het
Gpr162 A G 6: 124,838,494 (GRCm39) L52P probably damaging Het
Inhbb A G 1: 119,345,335 (GRCm39) L318P probably damaging Het
Lkaaear1 TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG 2: 181,339,354 (GRCm39) probably benign Het
Mcm8 G A 2: 132,684,570 (GRCm39) R728Q probably damaging Het
Metap1 A T 3: 138,184,595 (GRCm39) F126I possibly damaging Het
Or51a6 T C 7: 102,604,888 (GRCm39) probably null Het
Peg10 T A 6: 4,754,738 (GRCm39) V173E probably damaging Het
Poteg T A 8: 27,937,933 (GRCm39) F30I possibly damaging Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Homo
Sh3rf3 C T 10: 58,922,663 (GRCm39) L580F possibly damaging Het
Slc26a7 C A 4: 14,593,819 (GRCm39) V99F probably damaging Het
Slc26a7 A T 4: 14,593,820 (GRCm39) H98Q probably damaging Het
Slc9a2 A T 1: 40,758,069 (GRCm39) I203F probably damaging Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Txnrd3 G A 6: 89,646,897 (GRCm39) V347I possibly damaging Het
Zfp42 G A 8: 43,749,093 (GRCm39) T136M possibly 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
R6662:Acox1 UTSW 11 116,066,149 (GRCm39) missense probably damaging 1.00
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'- AAGCCCATCACCTTCTGCAG -3'
(R):5'- CAGGTAAGGATTGTTCATCTGATACC -3'

Sequencing Primer
(F):5'- ATCACCTTCTGCAGCTGGG -3'
(R):5'- ATCTTTCCAGAGGAACAGGGTTC -3'
Posted On 2018-07-23