Incidental Mutation 'IGL01530:Acox2'
ID89726
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acox2
Ensembl Gene ENSMUSG00000021751
Gene Nameacyl-Coenzyme A oxidase 2, branched chain
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.128) question?
Stock #IGL01530
Quality Score
Status
Chromosome14
Chromosomal Location8225511-8259353 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 8246363 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Serine at position 476 (Y476S)
Ref Sequence ENSEMBL: ENSMUSP00000126464 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022271] [ENSMUST00000164598]
Predicted Effect probably damaging
Transcript: ENSMUST00000022271
AA Change: Y476S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022271
Gene: ENSMUSG00000021751
AA Change: Y476S

DomainStartEndE-ValueType
Pfam:Acyl-CoA_ox_N 32 148 1.2e-28 PFAM
SCOP:d1is2a1 309 478 1e-28 SMART
Pfam:ACOX 492 677 3.2e-68 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000116361
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164412
Predicted Effect probably damaging
Transcript: ENSMUST00000164598
AA Change: Y476S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126464
Gene: ENSMUSG00000021751
AA Change: Y476S

DomainStartEndE-ValueType
Pfam:Acyl-CoA_ox_N 32 148 6.3e-29 PFAM
Pfam:Acyl-CoA_dh_M 150 260 2.8e-11 PFAM
SCOP:d1is2a1 309 478 1e-28 SMART
Pfam:ACOX 495 675 1.3e-60 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165169
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the acyl-CoA oxidase family. It encodes the branched-chain acyl-CoA oxidase which is involved in the degradation of long branched fatty acids and bile acid intermediates in peroxisomes. Deficiency of this enzyme results in the accumulation of branched fatty acids and bile acid intermediates, and may lead to Zellweger syndrome, severe mental retardation, and death in children. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice heterozygous for an endonuclease-mediated deletion exhibit no detectable phenotypic abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acin1 G A 14: 54,643,986 R1117W probably damaging Het
Arl6ip5 G A 6: 97,210,824 D2N possibly damaging Het
C77080 G A 4: 129,222,796 probably null Het
Ces2h A G 8: 105,014,484 H36R probably benign Het
Cfap44 C A 16: 44,449,167 A1178E probably damaging Het
Clmn T A 12: 104,791,856 I134F probably damaging Het
Col6a5 A G 9: 105,915,186 probably benign Het
Csmd1 C T 8: 15,903,195 E3429K probably damaging Het
Csmd2 A G 4: 128,414,301 D1284G possibly damaging Het
Csmd3 C T 15: 47,838,437 G1750E possibly damaging Het
Csmd3 T G 15: 47,669,617 D2516A probably damaging Het
Depdc1a C T 3: 159,523,923 H631Y probably damaging Het
Fam129c A T 8: 71,603,917 probably benign Het
Fat2 A T 11: 55,283,387 S2167T probably benign Het
Flii G A 11: 60,720,182 R474* probably null Het
Hmcn2 A C 2: 31,354,264 D687A possibly damaging Het
Hrh4 A G 18: 13,015,947 probably benign Het
Hsd3b5 G A 3: 98,619,123 R336C probably damaging Het
Igkv5-39 T A 6: 69,900,475 E79V probably damaging Het
Iqgap3 G A 3: 88,112,303 probably null Het
Irak3 G A 10: 120,142,794 S492F probably benign Het
Kif14 T A 1: 136,478,419 probably benign Het
Kmt2c T C 5: 25,313,500 I2394V probably benign Het
Lama1 C T 17: 67,796,790 A2002V probably benign Het
Map3k19 T C 1: 127,822,104 E1170G probably damaging Het
Mdn1 T C 4: 32,711,938 probably benign Het
Mpo G T 11: 87,801,191 M483I probably benign Het
Neu3 T C 7: 99,813,746 S257G probably benign Het
Nup214 A G 2: 32,033,721 T1421A probably benign Het
Pbx1 T C 1: 168,191,304 N324S probably benign Het
Pcbp2 T C 15: 102,484,166 S5P probably benign Het
Pds5b A G 5: 150,792,175 I511V probably benign Het
Pdzph1 C T 17: 58,922,715 D983N probably damaging Het
Phldb2 A C 16: 45,802,729 D651E probably damaging Het
Pkhd1 A G 1: 20,559,419 probably null Het
Plxnb1 A G 9: 109,110,405 D1406G probably benign Het
Rhebl1 T C 15: 98,879,486 D65G probably damaging Het
Smpdl3a A G 10: 57,807,893 H249R probably damaging Het
Sorbs1 T C 19: 40,376,647 T231A probably benign Het
Tmem232 G A 17: 65,256,548 Q617* probably null Het
Trim62 A G 4: 128,884,459 D97G probably benign Het
Tsc2 T C 17: 24,622,662 T328A possibly damaging Het
Ugt2b5 C T 5: 87,137,245 V278I probably benign Het
Usp4 T C 9: 108,362,900 probably null Het
Vdac3-ps1 C T 13: 18,031,506 noncoding transcript Het
Wwc2 T A 8: 47,863,939 R706S unknown Het
Xpot A C 10: 121,611,528 I114S probably damaging Het
Zfp777 T A 6: 48,043,984 S279C probably damaging Het
Other mutations in Acox2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01845:Acox2 APN 14 8251617 missense probably damaging 1.00
IGL02830:Acox2 APN 14 8255298 missense probably damaging 1.00
R0415:Acox2 UTSW 14 8243835 splice site probably benign
R0535:Acox2 UTSW 14 8256753 missense probably damaging 1.00
R1424:Acox2 UTSW 14 8230247 missense probably benign 0.02
R1836:Acox2 UTSW 14 8248059 missense possibly damaging 0.91
R1862:Acox2 UTSW 14 8241416 missense probably benign 0.07
R1885:Acox2 UTSW 14 8248102 missense probably benign 0.00
R2032:Acox2 UTSW 14 8246400 missense probably benign 0.00
R2268:Acox2 UTSW 14 8253496 missense probably damaging 0.98
R2497:Acox2 UTSW 14 8251612 missense probably benign 0.00
R3032:Acox2 UTSW 14 8253466 missense probably damaging 1.00
R3842:Acox2 UTSW 14 8251543 missense probably damaging 1.00
R3874:Acox2 UTSW 14 8248061 missense probably benign 0.00
R4763:Acox2 UTSW 14 8241334 missense possibly damaging 0.81
R5072:Acox2 UTSW 14 8241374 nonsense probably null
R5397:Acox2 UTSW 14 8243803 missense probably benign 0.02
R5950:Acox2 UTSW 14 8255793 missense probably benign
R7188:Acox2 UTSW 14 8252996 missense possibly damaging 0.67
R7208:Acox2 UTSW 14 8241303 missense probably benign 0.27
R7315:Acox2 UTSW 14 8256139 missense probably damaging 0.99
R7757:Acox2 UTSW 14 8230166 missense probably damaging 1.00
R7888:Acox2 UTSW 14 8246415 missense probably benign 0.00
R8269:Acox2 UTSW 14 8246325 missense probably benign 0.00
Z1177:Acox2 UTSW 14 8256852 missense probably benign 0.04
Posted On2013-12-03