Incidental Mutation 'R7477:Acox3'
ID 579538
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 045551-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7477 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 35740293-35772397 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 35749447 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 191 (E191*)
Ref Sequence ENSEMBL: ENSMUSP00000063412 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068563] [ENSMUST00000068947] [ENSMUST00000114237] [ENSMUST00000114238] [ENSMUST00000156125] [ENSMUST00000202266]
AlphaFold Q9EPL9
Predicted Effect probably null
Transcript: ENSMUST00000068563
AA Change: E191*
SMART Domains Protein: ENSMUSP00000067178
Gene: ENSMUSG00000029098
AA Change: E191*

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 null
Transcript: ENSMUST00000068947
AA Change: E191*
SMART Domains Protein: ENSMUSP00000063412
Gene: ENSMUSG00000029098
AA Change: E191*

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 null
Transcript: ENSMUST00000114237
AA Change: E191*
SMART Domains Protein: ENSMUSP00000109875
Gene: ENSMUSG00000029098
AA Change: E191*

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 null
Transcript: ENSMUST00000114238
AA Change: E191*
SMART Domains Protein: ENSMUSP00000109876
Gene: ENSMUSG00000029098
AA Change: E191*

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 probably benign
Transcript: ENSMUST00000156125
SMART Domains Protein: ENSMUSP00000119216
Gene: ENSMUSG00000029098

DomainStartEndE-ValueType
SCOP:d1is2a3 20 77 1e-4 SMART
Predicted Effect probably null
Transcript: ENSMUST00000202266
AA Change: E191*
SMART Domains Protein: ENSMUSP00000144499
Gene: ENSMUSG00000029098
AA Change: E191*

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
Meta Mutation Damage Score 0.9702 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 97% (66/68)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a T A 8: 44,022,107 (GRCm39) E461V probably damaging Het
Adamtsl1 G A 4: 86,333,888 (GRCm39) R1539Q probably damaging Het
Adipor2 A T 6: 119,338,883 (GRCm39) H123Q probably benign Het
Akap13 C T 7: 75,398,995 (GRCm39) S2691L probably benign Het
Aldh1l1 T C 6: 90,575,369 (GRCm39) probably null Het
Ankrd11 A T 8: 123,621,124 (GRCm39) S909R possibly damaging Het
Bop1 T C 15: 76,339,526 (GRCm39) E273G probably damaging Het
Car1 G A 3: 14,841,343 (GRCm39) H97Y probably damaging Het
Casp14 T C 10: 78,550,138 (GRCm39) N170S probably benign Het
Ccdc158 A T 5: 92,798,555 (GRCm39) L382M probably damaging Het
Ccdc18 A C 5: 108,368,716 (GRCm39) Q1279H probably damaging Het
Cdh18 A G 15: 23,410,811 (GRCm39) N432S probably benign Het
Ctdp1 T C 18: 80,483,929 (GRCm39) probably null Het
Dhx30 A G 9: 109,916,208 (GRCm39) I691T probably damaging Het
Dnah9 A G 11: 65,883,557 (GRCm39) I2562T probably damaging Het
Dsp A T 13: 38,356,839 (GRCm39) I240F probably damaging Het
Ell T C 8: 71,037,868 (GRCm39) S308P probably benign Het
Elmo1 A G 13: 20,469,489 (GRCm39) D26G Het
Fam171a1 T C 2: 3,226,676 (GRCm39) V603A probably benign Het
Fam83e G A 7: 45,378,404 (GRCm39) G476D probably damaging Het
Farp2 A G 1: 93,508,750 (GRCm39) probably null Het
Fcer1a C T 1: 173,048,851 (GRCm39) probably null Het
Gpr179 G T 11: 97,226,665 (GRCm39) T1830K possibly damaging Het
Grin3a G A 4: 49,719,278 (GRCm39) P823S probably damaging Het
Heatr4 T A 12: 84,026,604 (GRCm39) I218F probably damaging Het
Il36rn T A 2: 24,169,704 (GRCm39) Y21* probably null Het
Jakmip1 A G 5: 37,330,915 (GRCm39) T532A probably benign Het
Klf11 A G 12: 24,703,562 (GRCm39) D16G probably benign Het
Lrp1 T A 10: 127,404,789 (GRCm39) I1971F probably damaging Het
Lrrc9 T A 12: 72,550,301 (GRCm39) probably null Het
Lrrk2 C T 15: 91,696,528 (GRCm39) L2439F probably damaging Het
Lypd10 A G 7: 24,413,673 (GRCm39) T230A probably benign Het
Mapk14 G A 17: 28,964,052 (GRCm39) D313N probably damaging Het
Max A T 12: 76,999,960 (GRCm39) S52T probably benign Het
Mrpl23 A G 7: 142,091,018 (GRCm39) R80G possibly damaging Het
Muc5ac C A 7: 141,370,019 (GRCm39) N3186K possibly damaging Het
Mylk2 G A 2: 152,762,261 (GRCm39) V511I probably damaging Het
Mypn T C 10: 62,961,500 (GRCm39) M1031V possibly damaging Het
Nbeal1 A G 1: 60,300,743 (GRCm39) T1488A probably benign Het
Ncbp1 A T 4: 46,157,897 (GRCm39) E378D probably damaging Het
Nedd9 A T 13: 41,471,956 (GRCm39) D174E probably benign Het
Nid2 T A 14: 19,856,041 (GRCm39) D1255E probably benign Het
Nlrc3 A G 16: 3,782,675 (GRCm39) C261R probably damaging Het
Or5w22 A G 2: 87,362,431 (GRCm39) N18S probably benign Het
Pgam1 T A 19: 41,905,255 (GRCm39) H196Q probably damaging Het
Pja2 A C 17: 64,616,640 (GRCm39) V85G possibly damaging Het
Pkd2 G A 5: 104,631,108 (GRCm39) V511M probably benign Het
Ppp2cb T A 8: 34,105,502 (GRCm39) S171T probably benign Het
Prkab2 T C 3: 97,566,063 (GRCm39) F45S probably damaging Het
Rabep2 A T 7: 126,043,990 (GRCm39) probably null Het
Rnf41 T A 10: 128,271,303 (GRCm39) I71N probably damaging Het
Slc5a7 G A 17: 54,588,787 (GRCm39) P287S probably damaging Het
Smc6 A G 12: 11,321,808 (GRCm39) D25G probably benign Het
Sptb A T 12: 76,675,339 (GRCm39) L225Q probably damaging Het
Tenm4 A C 7: 96,495,015 (GRCm39) I1148L probably damaging Het
Tnk2 C A 16: 32,496,709 (GRCm39) probably null Het
Trank1 G A 9: 111,194,025 (GRCm39) S683N probably benign Het
Trp53bp1 A C 2: 121,066,827 (GRCm39) V633G probably benign Het
Ugt2a3 T C 5: 87,484,479 (GRCm39) K182E possibly damaging Het
Uncx A T 5: 139,533,017 (GRCm39) T361S probably benign Het
Vmn2r11 A T 5: 109,207,214 (GRCm39) N35K possibly damaging Het
Vmn2r4 C A 3: 64,305,850 (GRCm39) R524L probably benign Het
Vmn2r5 C T 3: 64,399,060 (GRCm39) V640M probably damaging Het
Washc4 T C 10: 83,410,307 (GRCm39) Y632H probably damaging Het
Xkr6 T C 14: 63,844,129 (GRCm39) S51P possibly damaging Het
Zer1 C A 2: 29,997,988 (GRCm39) K408N probably null Het
Znhit2 A G 19: 6,112,501 (GRCm39) probably null 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
R4966: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
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'- ACATAAAGTCAGCTTGGCCCAC -3'
(R):5'- CTGGAACTAAAGCGTGCTGC -3'

Sequencing Primer
(F):5'- CACAGGAAATACAGTGCTCAGTC -3'
(R):5'- CTGCAGGAAGCTGAGACTC -3'
Posted On 2019-10-07