Incidental Mutation 'R5551:Acox1'
ID 435140
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 043108-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.323) question?
Stock # R5551 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 116062714-116089605 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 116080317 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 29 (S29P)
Ref Sequence ENSEMBL: ENSMUSP00000122185 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066587] [ENSMUST00000072948] [ENSMUST00000148601]
AlphaFold Q9R0H0
Predicted Effect probably benign
Transcript: ENSMUST00000066587
SMART Domains Protein: ENSMUSP00000063325
Gene: ENSMUSG00000020777

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 silent
Transcript: ENSMUST00000072948
SMART Domains Protein: ENSMUSP00000072717
Gene: ENSMUSG00000020777

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: ENSMUST00000124684
Predicted Effect possibly damaging
Transcript: ENSMUST00000148601
AA Change: S29P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000122185
Gene: ENSMUSG00000020777
AA Change: S29P

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AB041806 G T 4: 138,123,312 (GRCm39) P3T probably damaging Het
Abl1 C T 2: 31,691,682 (GRCm39) A1048V probably benign Het
Acap2 A G 16: 30,923,726 (GRCm39) V659A probably damaging Het
Adamts1 A G 16: 85,594,634 (GRCm39) I405T probably benign Het
Afm A T 5: 90,679,511 (GRCm39) E335V probably null Het
Akap6 C T 12: 52,842,747 (GRCm39) P32S probably damaging Het
Alk T C 17: 72,182,028 (GRCm39) M1332V possibly damaging Het
Ankrd39 C T 1: 36,581,062 (GRCm39) G96R probably damaging Het
Atp2c1 C A 9: 105,336,936 (GRCm39) A16S probably damaging Het
Ccdc141 T C 2: 76,844,753 (GRCm39) E1438G probably damaging Het
Csmd2 T C 4: 128,404,741 (GRCm39) Y2376H possibly damaging Het
Csmd3 T C 15: 48,177,492 (GRCm39) T349A probably benign Het
Ctsr A T 13: 61,307,357 (GRCm39) M313K probably damaging Het
Dot1l CCAGCCCCACCCTCAGCC CCAGCC 10: 80,619,462 (GRCm39) probably benign Het
Dync2h1 A G 9: 7,031,718 (GRCm39) S3516P possibly damaging Het
Ehd4 A G 2: 119,958,100 (GRCm39) S162P possibly damaging Het
Ets2 T C 16: 95,513,165 (GRCm39) W114R probably damaging Het
Fignl1 A T 11: 11,751,603 (GRCm39) V484E probably damaging Het
Golph3 C A 15: 12,321,922 (GRCm39) S35R probably benign Het
Gzf1 T C 2: 148,526,248 (GRCm39) Y240H probably damaging Het
Hook3 A G 8: 26,558,639 (GRCm39) F75S possibly damaging Het
Ifi209 T A 1: 173,468,763 (GRCm39) S198T probably benign Het
Iqch A T 9: 63,403,535 (GRCm39) probably null Het
Katnip T C 7: 125,419,249 (GRCm39) F472S probably damaging Het
Lrrk2 C T 15: 91,696,553 (GRCm39) T2447I probably benign Het
Mesp2 T C 7: 79,461,367 (GRCm39) S231P probably benign Het
Muc5b T C 7: 141,422,240 (GRCm39) C4459R possibly damaging Het
Myh10 A G 11: 68,659,113 (GRCm39) E497G possibly damaging Het
Nalcn A T 14: 123,515,698 (GRCm39) V1701E possibly damaging Het
Nat8f1 T C 6: 85,887,891 (GRCm39) D23G probably damaging Het
Nfia G A 4: 97,902,497 (GRCm39) E250K probably damaging Het
Nup155 A G 15: 8,177,817 (GRCm39) M1067V probably benign Het
Or4k36 T C 2: 111,145,916 (GRCm39) F31L possibly damaging Het
Pde4d T A 13: 110,084,930 (GRCm39) probably null Het
Rtn4 G A 11: 29,691,011 (GRCm39) V1101I probably damaging Het
Sema4c A G 1: 36,591,398 (GRCm39) Y348H probably damaging Het
Sema6a A G 18: 47,381,595 (GRCm39) V958A possibly damaging Het
Sez6l2 A G 7: 126,566,002 (GRCm39) Y677C probably damaging Het
Smad5 T C 13: 56,883,654 (GRCm39) C347R probably damaging Het
Smim19 A G 8: 22,953,383 (GRCm39) Y95H probably benign Het
Srrm2 C A 17: 24,037,450 (GRCm39) probably benign Het
Ssb A G 2: 69,701,474 (GRCm39) K390E probably damaging Het
Tars1 G A 15: 11,392,068 (GRCm39) T248M probably damaging Het
Tcirg1 A T 19: 3,948,858 (GRCm39) F442L probably damaging Het
Tex55 A G 16: 38,648,336 (GRCm39) Y258H probably benign Het
Tlk2 A G 11: 105,112,133 (GRCm39) E162G probably benign Het
Tmc6 A G 11: 117,660,271 (GRCm39) C656R probably damaging Het
Ttn G T 2: 76,719,406 (GRCm39) probably benign Het
Uqcrc2 C T 7: 120,244,461 (GRCm39) T201I probably damaging Het
Zfp282 G T 6: 47,867,579 (GRCm39) A252S possibly damaging Het
Zfp473 G C 7: 44,383,575 (GRCm39) P253A probably benign Het
Zfp541 A G 7: 15,824,786 (GRCm39) N1068D probably damaging Het
Zfp946 A G 17: 22,674,365 (GRCm39) Q373R probably damaging Het
Zmat2 G A 18: 36,927,010 (GRCm39) G6R 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
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
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'- ATTGGGTTTTGATGCCACAAC -3'
(R):5'- GTGTAGCGCACAGTCTGTAG -3'

Sequencing Primer
(F):5'- TCCCAAACACATAGCAGCAGGAG -3'
(R):5'- GCACAGTCTGTAGCGGGAG -3'
Posted On 2016-10-24