Incidental Mutation 'R2893:Acox3'
ID 260661
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 040481-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2893 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 35740293-35772397 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35757192 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 344 (I344V)
Ref Sequence ENSEMBL: ENSMUSP00000109876 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068563] [ENSMUST00000068947] [ENSMUST00000114237] [ENSMUST00000114238] [ENSMUST00000202266]
AlphaFold Q9EPL9
Predicted Effect probably benign
Transcript: ENSMUST00000068563
AA Change: I344V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000067178
Gene: ENSMUSG00000029098
AA Change: I344V

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: I344V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000063412
Gene: ENSMUSG00000029098
AA Change: I344V

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: I344V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000109875
Gene: ENSMUSG00000029098
AA Change: I344V

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: I344V

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000109876
Gene: ENSMUSG00000029098
AA Change: I344V

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: ENSMUST00000201106
Predicted Effect probably benign
Transcript: ENSMUST00000202266
AA Change: I344V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000144499
Gene: ENSMUSG00000029098
AA Change: I344V

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 C T 6: 128,557,349 (GRCm39) A115T probably benign Het
Abl1 T G 2: 31,687,624 (GRCm39) S521R probably benign Het
Ank2 T C 3: 127,041,892 (GRCm39) probably null Het
Atoh8 A T 6: 72,211,856 (GRCm39) F98Y probably benign Het
Caskin2 C T 11: 115,692,103 (GRCm39) G894E probably benign Het
Cdh15 G A 8: 123,583,374 (GRCm39) R59H probably benign Het
Cdk5rap2 T C 4: 70,208,110 (GRCm39) K779E probably benign Het
Csmd2 T A 4: 128,432,786 (GRCm39) probably null Het
Cubn T C 2: 13,362,950 (GRCm39) D1687G possibly damaging Het
F11 A G 8: 45,701,675 (GRCm39) S353P probably damaging Het
Faap100 T C 11: 120,265,451 (GRCm39) D475G probably damaging Het
Fhip2a C T 19: 57,372,601 (GRCm39) P617L probably benign Het
Gm13090 T A 4: 151,175,157 (GRCm39) L78* probably null Het
Ikbke G A 1: 131,197,961 (GRCm39) P382S probably damaging Het
Il4i1 A G 7: 44,487,414 (GRCm39) I130V probably damaging Het
Islr2 A T 9: 58,105,149 (GRCm39) S704T probably damaging Het
Itga10 A G 3: 96,562,416 (GRCm39) N733D probably benign Het
Itih2 C T 2: 10,107,008 (GRCm39) G662D possibly damaging Het
Kansl1l T C 1: 66,840,493 (GRCm39) Q269R probably damaging Het
Kcnj3 A T 2: 55,337,027 (GRCm39) I298F probably damaging Het
Kdr A G 5: 76,107,496 (GRCm39) F1016L probably damaging Het
Miga2 A T 2: 30,268,306 (GRCm39) probably null Het
Or51ai2 A T 7: 103,587,389 (GRCm39) R267S probably damaging Het
Per2 C A 1: 91,373,325 (GRCm39) Q154H probably damaging Het
Pik3ap1 G A 19: 41,364,500 (GRCm39) A73V probably benign Het
Plod3 G C 5: 137,017,000 (GRCm39) A50P probably benign Het
Psma5-ps T C 10: 85,149,848 (GRCm39) noncoding transcript Het
Rad18 G A 6: 112,652,734 (GRCm39) Q288* probably null Het
Rapsn A T 2: 90,867,169 (GRCm39) D157V probably damaging Het
Slc2a8 A T 2: 32,864,966 (GRCm39) W394R probably damaging Het
Srcap T C 7: 127,138,237 (GRCm39) S1136P probably damaging Het
Tenm4 T A 7: 96,544,197 (GRCm39) V2108D probably damaging Het
Trappc10 C T 10: 78,029,235 (GRCm39) V1101M probably benign Het
Ttbk2 C A 2: 120,576,091 (GRCm39) probably null Het
Usp8 A T 2: 126,600,075 (GRCm39) Q998L probably damaging Het
Vmn2r114 ATTT ATT 17: 23,509,906 (GRCm39) probably null Het
Vmn2r80 T C 10: 78,984,699 (GRCm39) F17S possibly 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
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
Predicted Primers PCR Primer
(F):5'- CATCTGACTGATGGGTGACAC -3'
(R):5'- ACATTCAGCAGGCTCATTCC -3'

Sequencing Primer
(F):5'- GGTGACACCCGTCTTTCTTC -3'
(R):5'- GTACCTCCTTTTGAGTATAGTACACC -3'
Posted On 2015-01-23