Incidental Mutation 'IGL01135:Acox3'
ID 51173
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acox3
Ensembl Gene ENSMUSG00000029098
Gene Name acyl-Coenzyme A oxidase 3, pristanoyl
Synonyms EST-s59, PCOX, pristanoyl-CoA oxidase
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01135
Quality Score
Status
Chromosome 5
Chromosomal Location 35740293-35772397 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 35746096 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 93 (V93E)
Ref Sequence ENSEMBL: ENSMUSP00000109876 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068563] [ENSMUST00000068947] [ENSMUST00000114237] [ENSMUST00000114238] [ENSMUST00000202266] [ENSMUST00000156125]
AlphaFold Q9EPL9
Predicted Effect probably benign
Transcript: ENSMUST00000068563
AA Change: V93E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000067178
Gene: ENSMUSG00000029098
AA Change: V93E

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 benign
Transcript: ENSMUST00000068947
AA Change: V93E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000063412
Gene: ENSMUSG00000029098
AA Change: V93E

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 benign
Transcript: ENSMUST00000114237
AA Change: V93E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000109875
Gene: ENSMUSG00000029098
AA Change: V93E

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 benign
Transcript: ENSMUST00000114238
AA Change: V93E

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000109876
Gene: ENSMUSG00000029098
AA Change: V93E

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 benign
Transcript: ENSMUST00000202266
AA Change: V93E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000144499
Gene: ENSMUSG00000029098
AA Change: V93E

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
Coding Region Coverage
Validation Efficiency
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
5730507C01Rik G A 12: 18,583,375 (GRCm39) R145H possibly damaging Het
Ankar T C 1: 72,704,378 (GRCm39) N848S probably benign Het
Blzf1 A G 1: 164,131,499 (GRCm39) probably benign Het
Cc2d1a G T 8: 84,870,033 (GRCm39) H161N probably benign Het
Ceacam23 A T 7: 17,636,396 (GRCm39) noncoding transcript Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Ckmt1 A C 2: 121,191,631 (GRCm39) D267A probably damaging Het
Dtl G T 1: 191,280,442 (GRCm39) T364K probably damaging Het
Fat1 T A 8: 45,477,877 (GRCm39) F2308I probably damaging Het
Fbxo41 A T 6: 85,454,890 (GRCm39) S673T probably benign Het
Flnb G A 14: 7,909,736 (GRCm38) V1397I probably benign Het
Gdi2 A G 13: 3,598,855 (GRCm39) probably benign Het
Grik3 C T 4: 125,526,208 (GRCm39) T147I probably benign Het
Htr1a T C 13: 105,581,792 (GRCm39) V344A possibly damaging Het
Isg20l2 A T 3: 87,839,068 (GRCm39) D93V probably damaging Het
Kcnt2 T C 1: 140,282,293 (GRCm39) probably null Het
Mfsd4b3-ps A G 10: 39,824,068 (GRCm39) M64T probably benign Het
Nox3 T A 17: 3,746,527 (GRCm39) probably benign Het
Or2ag12 C T 7: 106,277,400 (GRCm39) A98T probably benign Het
Pikfyve T A 1: 65,290,794 (GRCm39) N1204K probably damaging Het
Pou4f3 C T 18: 42,529,031 (GRCm39) Q325* probably null Het
Rap1a T A 3: 105,639,351 (GRCm39) T103S probably benign Het
Rfc4 G A 16: 22,934,526 (GRCm39) R165C probably damaging Het
Smtnl1 A G 2: 84,649,231 (GRCm39) S8P probably benign Het
Syt17 C T 7: 117,981,270 (GRCm39) G351S possibly damaging Het
Tcf20 T A 15: 82,738,101 (GRCm39) M1117L probably benign Het
Tent5a A G 9: 85,208,652 (GRCm39) V57A probably damaging Het
Tgfbr3 A T 5: 107,362,894 (GRCm39) H39Q probably damaging Het
Trdmt1 T C 2: 13,526,071 (GRCm39) probably null Het
Twf2 A G 9: 106,090,027 (GRCm39) I127V probably benign Het
Unc13c A G 9: 73,392,175 (GRCm39) V2059A probably damaging Het
Other mutations in Acox3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-06-21