Incidental Mutation 'R4966:Acox3'
ID 383997
Institutional Source Beutler Lab
Gene Symbol Acox3
Ensembl Gene ENSMUSG00000029098
Gene Name acyl-Coenzyme A oxidase 3, pristanoyl
Synonyms EST-s59, PCOX, pristanoyl-CoA oxidase
MMRRC Submission 042562-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4966 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 35740293-35772397 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35747080 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 166 (N166D)
Ref Sequence ENSEMBL: ENSMUSP00000109875 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068563] [ENSMUST00000068947] [ENSMUST00000114237] [ENSMUST00000114238] [ENSMUST00000202266] [ENSMUST00000156125]
AlphaFold Q9EPL9
Predicted Effect probably damaging
Transcript: ENSMUST00000068563
AA Change: N166D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000067178
Gene: ENSMUSG00000029098
AA Change: N166D

DomainStartEndE-ValueType
Pfam:Acyl-CoA_dh_M 155 213 3e-15 PFAM
Pfam:Acyl-CoA_dh_1 297 466 6e-9 PFAM
Pfam:ACOX 507 662 5.2e-43 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000068947
AA Change: N166D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000063412
Gene: ENSMUSG00000029098
AA Change: N166D

DomainStartEndE-ValueType
Pfam:Acyl-CoA_dh_M 155 266 8.7e-18 PFAM
Pfam:Acyl-CoA_dh_1 297 466 5.5e-8 PFAM
Pfam:ACOX 510 690 6.4e-53 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114237
AA Change: N166D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109875
Gene: ENSMUSG00000029098
AA Change: N166D

DomainStartEndE-ValueType
Pfam:Acyl-CoA_dh_M 155 213 5.7e-15 PFAM
Pfam:Acyl-CoA_dh_1 297 466 9.4e-9 PFAM
Pfam:ACOX 507 695 1.6e-50 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114238
AA Change: N166D

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109876
Gene: ENSMUSG00000029098
AA Change: N166D

DomainStartEndE-ValueType
Pfam:Acyl-CoA_dh_M 198 309 1.4e-17 PFAM
Pfam:Acyl-CoA_dh_1 340 509 1.3e-7 PFAM
Pfam:ACOX 553 707 1.4e-45 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124643
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127641
Predicted Effect probably damaging
Transcript: ENSMUST00000202266
AA Change: N166D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000144499
Gene: ENSMUSG00000029098
AA Change: N166D

DomainStartEndE-ValueType
Pfam:Acyl-CoA_dh_M 155 266 4.5e-18 PFAM
Pfam:Acyl-CoA_dh_1 297 466 3.2e-8 PFAM
Pfam:ACOX 510 667 1.6e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156125
SMART Domains Protein: ENSMUSP00000119216
Gene: ENSMUSG00000029098

DomainStartEndE-ValueType
SCOP:d1is2a3 20 77 1e-4 SMART
Meta Mutation Damage Score 0.6112 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 90.6%
Validation Efficiency 96% (94/98)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Acyl-Coenzyme A oxidase 3 also know as pristanoyl -CoA oxidase (ACOX3)is involved in the desaturation of 2-methyl branched fatty acids in peroxisomes. Unlike the rat homolog, the human gene is expressed in very low amounts in liver such that its mRNA was undetectable by routine Northern-blot analysis or its product by immunoblotting or by enzyme activity measurements. However the human cDNA encoding a 700 amino acid protein with a peroxisomal targeting C-terminal tripeptide S-K-L was isolated and is thought to be expressed under special conditions such as specific developmental stages or in a tissue specific manner in tissues that have not yet been examined. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T C 13: 119,610,757 (GRCm39) probably benign Het
9030619P08Rik T A 15: 75,303,267 (GRCm39) noncoding transcript Het
Abcb5 T A 12: 118,850,626 (GRCm39) probably benign Het
Actn1 T C 12: 80,219,904 (GRCm39) I656V probably benign Het
Arhgef15 A G 11: 68,838,143 (GRCm39) V659A probably benign Het
AW551984 T C 9: 39,508,472 (GRCm39) E348G possibly damaging Het
Bbs2 A T 8: 94,807,435 (GRCm39) V453E probably damaging Het
Caskin1 A T 17: 24,726,135 (GRCm39) D1414V probably damaging Het
Ccdc57 A T 11: 120,751,978 (GRCm39) S868T probably benign Het
Cdc34b A T 11: 94,633,087 (GRCm39) I96F probably damaging Het
Ctnnd1 A G 2: 84,452,417 (GRCm39) F69L possibly damaging Het
Cyld A G 8: 89,468,929 (GRCm39) I567V possibly damaging Het
Dact3 G C 7: 16,620,013 (GRCm39) V503L unknown Het
Dlg1 C T 16: 31,573,626 (GRCm39) T9I probably benign Het
Dnase1 T C 16: 3,855,771 (GRCm39) probably benign Het
Drc7 G A 8: 95,798,224 (GRCm39) E490K probably benign Het
Drd4 T C 7: 140,873,690 (GRCm39) M114T probably damaging Het
Exoc3l4 A G 12: 111,395,155 (GRCm39) H591R probably benign Het
Fgfr1 C A 8: 26,062,461 (GRCm39) Y665* probably null Het
G2e3 A G 12: 51,418,413 (GRCm39) I603V probably benign Het
Glp2r G T 11: 67,648,419 (GRCm39) Y94* probably null Het
Gnat1 A T 9: 107,554,433 (GRCm39) M115K probably benign Het
Gpr45 A G 1: 43,072,280 (GRCm39) T308A probably benign Het
Grm1 T A 10: 10,595,409 (GRCm39) K740* probably null Het
Gtsf2 T C 15: 103,352,755 (GRCm39) E88G possibly damaging Het
Hsh2d C T 8: 72,947,372 (GRCm39) A23V probably benign Het
Ino80c T C 18: 24,239,702 (GRCm39) D153G probably damaging Het
Ints11 T C 4: 155,971,385 (GRCm39) F278L probably damaging Het
Ints6 A G 14: 62,939,911 (GRCm39) L593P probably damaging Het
Map4k1 A T 7: 28,682,427 (GRCm39) H16L probably benign Het
Mipep G T 14: 61,022,231 (GRCm39) R32L probably damaging Het
Mon1a A G 9: 107,779,850 (GRCm39) E473G probably damaging Het
Myf5 A T 10: 107,321,733 (GRCm39) C20* probably null Het
Myh11 T C 16: 14,023,818 (GRCm39) E1512G probably damaging Het
Myo5c T C 9: 75,176,878 (GRCm39) S608P probably benign Het
Myo9a A G 9: 59,779,017 (GRCm39) D1591G probably benign Het
Myof T A 19: 37,924,300 (GRCm39) I1306F probably damaging Het
Nlgn1 C T 3: 25,974,401 (GRCm39) G165D possibly damaging Het
Noc2l C G 4: 156,330,368 (GRCm39) D513E probably damaging Het
Nup205 G A 6: 35,220,784 (GRCm39) R1862H probably benign Het
Nup210l A G 3: 90,014,208 (GRCm39) H65R probably benign Het
Or2y16 A G 11: 49,334,945 (GRCm39) D89G possibly damaging Het
Or9k7 A T 10: 130,046,306 (GRCm39) M231K probably benign Het
Pcmtd1 C A 1: 7,231,233 (GRCm39) Y176* probably null Het
Pde6h C T 6: 136,938,201 (GRCm39) T58I possibly damaging Het
Pkd1 T C 17: 24,805,042 (GRCm39) probably null Het
Polr1e G A 4: 45,029,429 (GRCm39) A297T probably damaging Het
Rbm34 T C 8: 127,678,087 (GRCm39) D269G possibly damaging Het
Rdx T C 9: 51,986,309 (GRCm39) V372A probably benign Het
Reep6 T A 10: 80,169,633 (GRCm39) F107Y probably benign Het
Rere G T 4: 150,698,273 (GRCm39) probably benign Het
Rmdn2 G T 17: 79,974,304 (GRCm39) A266S probably damaging Het
Rnf32 G A 5: 29,403,576 (GRCm39) R7H probably benign Het
Rnpepl1 A T 1: 92,844,483 (GRCm39) N325I probably damaging Het
Rps6ka5 T A 12: 100,519,325 (GRCm39) M763L probably benign Het
Ryr2 T C 13: 11,729,497 (GRCm39) E2375G possibly damaging Het
Ryr2 T C 13: 11,848,878 (GRCm39) T361A probably benign Het
Serpina3j T A 12: 104,286,043 (GRCm39) C399* probably null Het
Serpinb9 T A 13: 33,192,847 (GRCm39) W135R probably damaging Het
Sim2 T C 16: 93,924,280 (GRCm39) V475A probably benign Het
Slc24a5 G A 2: 124,910,188 (GRCm39) V30I probably benign Het
Snrnp25 A G 11: 32,157,595 (GRCm39) K58E probably damaging Het
Stx1b T C 7: 127,407,093 (GRCm39) I55V probably damaging Het
Tacc2 T C 7: 130,330,507 (GRCm39) S264P probably damaging Het
Tbc1d4 A T 14: 101,695,610 (GRCm39) Y943N probably damaging Het
Tlr5 T C 1: 182,801,038 (GRCm39) I114T probably benign Het
Tm2d3 A G 7: 65,347,469 (GRCm39) N101S possibly damaging Het
Tmem201 G T 4: 149,803,144 (GRCm39) Q575K probably benign Het
Tmem241 A G 18: 12,237,176 (GRCm39) S87P probably damaging Het
Trak2 G A 1: 58,958,480 (GRCm39) T267I probably damaging Het
Trmt2a T A 16: 18,067,418 (GRCm39) C30* probably null Het
Ttbk2 A T 2: 120,603,758 (GRCm39) F258L possibly damaging Het
Ttk T A 9: 83,747,201 (GRCm39) I680N probably benign Het
Ttn T C 2: 76,785,380 (GRCm39) D665G probably damaging Het
Tulp4 G A 17: 6,249,088 (GRCm39) E36K probably damaging Het
Unc93b1 T C 19: 3,992,023 (GRCm39) probably null Het
Uroc1 T C 6: 90,322,376 (GRCm39) L300P probably damaging Het
Vmn2r67 A T 7: 84,785,593 (GRCm39) V804E probably damaging Het
Wdr81 T A 11: 75,336,775 (GRCm39) Q1538L probably benign Het
Zfp457 T A 13: 67,441,342 (GRCm39) H315L probably damaging Het
Zfp518a T A 19: 40,904,295 (GRCm39) V1408D possibly damaging Het
Zfp52 T G 17: 21,780,665 (GRCm39) L171R probably benign Het
Zfp712 C T 13: 67,188,676 (GRCm39) C617Y probably damaging Het
Zfp770 T C 2: 114,027,868 (GRCm39) N67S probably benign Het
Zmat4 T C 8: 24,392,085 (GRCm39) S83P probably damaging Het
Other mutations in Acox3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01135:Acox3 APN 5 35,746,096 (GRCm39) missense probably benign 0.02
IGL02118:Acox3 APN 5 35,758,865 (GRCm39) missense possibly damaging 0.55
IGL02554:Acox3 APN 5 35,765,710 (GRCm39) missense probably damaging 1.00
IGL03377:Acox3 APN 5 35,751,676 (GRCm39) missense probably damaging 1.00
R1543:Acox3 UTSW 5 35,760,352 (GRCm39) missense probably damaging 1.00
R1661:Acox3 UTSW 5 35,760,371 (GRCm39) missense probably damaging 1.00
R1665:Acox3 UTSW 5 35,760,371 (GRCm39) missense probably damaging 1.00
R1707:Acox3 UTSW 5 35,758,908 (GRCm39) missense possibly damaging 0.87
R1725:Acox3 UTSW 5 35,749,516 (GRCm39) missense probably benign 0.26
R1763:Acox3 UTSW 5 35,765,683 (GRCm39) splice site probably null
R1851:Acox3 UTSW 5 35,766,406 (GRCm39) missense possibly damaging 0.72
R1923:Acox3 UTSW 5 35,749,459 (GRCm39) missense possibly damaging 0.80
R2154:Acox3 UTSW 5 35,762,568 (GRCm39) missense probably damaging 1.00
R2418:Acox3 UTSW 5 35,761,982 (GRCm39) missense probably benign 0.21
R2892:Acox3 UTSW 5 35,751,661 (GRCm39) missense probably damaging 1.00
R2893:Acox3 UTSW 5 35,757,192 (GRCm39) missense probably benign 0.02
R2894:Acox3 UTSW 5 35,757,192 (GRCm39) missense probably benign 0.02
R2964:Acox3 UTSW 5 35,762,611 (GRCm39) missense possibly damaging 0.81
R3431:Acox3 UTSW 5 35,746,560 (GRCm39) missense possibly damaging 0.47
R3735:Acox3 UTSW 5 35,768,497 (GRCm39) missense probably benign 0.02
R3736:Acox3 UTSW 5 35,768,497 (GRCm39) missense probably benign 0.02
R4106:Acox3 UTSW 5 35,758,896 (GRCm39) missense probably damaging 0.99
R4107:Acox3 UTSW 5 35,758,896 (GRCm39) missense probably damaging 0.99
R4108:Acox3 UTSW 5 35,758,896 (GRCm39) missense probably damaging 0.99
R4579:Acox3 UTSW 5 35,761,987 (GRCm39) missense probably damaging 1.00
R4862:Acox3 UTSW 5 35,747,083 (GRCm39) missense probably benign 0.22
R4903:Acox3 UTSW 5 35,747,080 (GRCm39) missense probably damaging 1.00
R4949:Acox3 UTSW 5 35,769,450 (GRCm39) missense probably benign 0.06
R4964:Acox3 UTSW 5 35,747,080 (GRCm39) missense probably damaging 1.00
R5170:Acox3 UTSW 5 35,745,969 (GRCm39) missense probably benign 0.42
R5278:Acox3 UTSW 5 35,745,500 (GRCm39) splice site probably benign
R5569:Acox3 UTSW 5 35,760,377 (GRCm39) missense probably damaging 1.00
R5733:Acox3 UTSW 5 35,762,543 (GRCm39) splice site probably null
R5741:Acox3 UTSW 5 35,765,668 (GRCm39) missense probably benign 0.07
R6530:Acox3 UTSW 5 35,746,039 (GRCm39) missense possibly damaging 0.65
R6580:Acox3 UTSW 5 35,765,747 (GRCm39) missense probably damaging 1.00
R6736:Acox3 UTSW 5 35,746,198 (GRCm39) critical splice donor site probably null
R6848:Acox3 UTSW 5 35,749,528 (GRCm39) missense probably damaging 1.00
R7012:Acox3 UTSW 5 35,769,431 (GRCm39) missense probably benign 0.14
R7233:Acox3 UTSW 5 35,762,641 (GRCm39) missense probably benign 0.01
R7477:Acox3 UTSW 5 35,749,447 (GRCm39) nonsense probably null
R7837:Acox3 UTSW 5 35,768,830 (GRCm39) critical splice acceptor site probably null
R7844:Acox3 UTSW 5 35,764,492 (GRCm39) missense probably benign 0.05
R8799:Acox3 UTSW 5 35,747,052 (GRCm39) missense probably damaging 1.00
Z1088:Acox3 UTSW 5 35,745,566 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GGAGTGGTATCCATGCGATG -3'
(R):5'- CAGTACAAGGCATGCTTTCAG -3'

Sequencing Primer
(F):5'- ATGTCTCAGTCGTGCCATAG -3'
(R):5'- ACAAGGCATGCTTTCAGTTGGC -3'
Posted On 2016-04-27