Incidental Mutation 'R5170:Acox3'
ID 397493
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 042750-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5170 (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 35745969 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 51 (I51V)
Ref Sequence ENSEMBL: ENSMUSP00000119216 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068563] [ENSMUST00000068947] [ENSMUST00000114237] [ENSMUST00000114238] [ENSMUST00000156125] [ENSMUST00000202266]
AlphaFold Q9EPL9
Predicted Effect probably benign
Transcript: ENSMUST00000068563
AA Change: I51V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000067178
Gene: ENSMUSG00000029098
AA Change: I51V

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: I51V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000063412
Gene: ENSMUSG00000029098
AA Change: I51V

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: I51V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000109875
Gene: ENSMUSG00000029098
AA Change: I51V

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: I51V

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000109876
Gene: ENSMUSG00000029098
AA Change: I51V

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: ENSMUST00000156125
AA Change: I51V

PolyPhen 2 Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000119216
Gene: ENSMUSG00000029098
AA Change: I51V

DomainStartEndE-ValueType
SCOP:d1is2a3 20 77 1e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000202266
AA Change: I51V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000144499
Gene: ENSMUSG00000029098
AA Change: I51V

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl2 A G 2: 90,633,541 (GRCm39) K559R probably benign Het
Arhgap30 A G 1: 171,235,618 (GRCm39) D664G probably benign Het
BC034090 A G 1: 155,089,396 (GRCm39) V798A probably damaging Het
Bdp1 A T 13: 100,167,302 (GRCm39) C2237* probably null Het
C3 C T 17: 57,530,938 (GRCm39) V388M probably damaging Het
Ccdc170 G A 10: 4,464,200 (GRCm39) E60K probably damaging Het
Cdh8 G A 8: 100,006,182 (GRCm39) T135M probably damaging Het
Cep131 G T 11: 119,961,435 (GRCm39) A572E probably damaging Het
Clec16a A G 16: 10,559,655 (GRCm39) Y976C probably benign Het
Cplx3 G A 9: 57,522,902 (GRCm39) R153* probably null Het
Defa41 A T 8: 21,691,696 (GRCm39) D26V probably damaging Het
Dmpk C G 7: 18,821,944 (GRCm39) L301V probably benign Het
Eno3 A G 11: 70,553,040 (GRCm39) I393V probably benign Het
Fbxo47 A G 11: 97,748,520 (GRCm39) V305A probably benign Het
Fry G A 5: 150,353,319 (GRCm39) V1779M probably benign Het
Gtse1 T C 15: 85,748,465 (GRCm39) probably null Het
Gucy2e A T 11: 69,126,396 (GRCm39) L328Q probably damaging Het
Ifi207 T C 1: 173,558,064 (GRCm39) T225A unknown Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Lamc3 A T 2: 31,777,356 (GRCm39) M1L probably benign Het
Myo16 A G 8: 10,619,745 (GRCm39) D1432G probably benign Het
Nwd2 A T 5: 63,963,380 (GRCm39) N988I probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Parp14 T C 16: 35,677,649 (GRCm39) E773G probably benign Het
Psen1 T A 12: 83,761,636 (GRCm39) M146K probably damaging Het
Ptx4 G A 17: 25,342,152 (GRCm39) R209Q probably benign Het
Slc13a2 T C 11: 78,291,634 (GRCm39) T340A probably damaging Het
St8sia1 T C 6: 142,909,434 (GRCm39) K21E probably damaging Het
Stxbp1 T C 2: 32,684,686 (GRCm39) D581G probably benign Het
Sumo2 G A 11: 115,425,486 (GRCm39) probably benign Het
Supt5 G A 7: 28,015,508 (GRCm39) P910S probably benign Het
Tbc1d30 T C 10: 121,142,743 (GRCm39) Q158R possibly damaging Het
Tenm2 T A 11: 35,915,633 (GRCm39) H1968L probably damaging Het
Trmt1 T C 8: 85,421,861 (GRCm39) Y220H probably damaging Het
Trp73 C T 4: 154,189,295 (GRCm39) E60K possibly damaging Het
Ttn A G 2: 76,617,413 (GRCm39) Y8026H probably damaging Het
Zar1l A G 5: 150,441,050 (GRCm39) probably null Het
Zfp740 T C 15: 102,117,640 (GRCm39) Y117H probably damaging Het
Zfp941 G A 7: 140,392,870 (GRCm39) probably benign Het
Zp1 C A 19: 10,897,918 (GRCm39) V8F 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
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
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'- CCCTGATGGTTCTGTAGGAC -3'
(R):5'- ATCAGCACTAGAATCTTCAGGGG -3'

Sequencing Primer
(F):5'- TTACCCCAGGATGGTCCCAG -3'
(R):5'- ACTAGAATCTTCAGGGGGTTCTTTAG -3'
Posted On 2016-07-06