Incidental Mutation 'IGL00417:Acoxl'
ID7039
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acoxl
Ensembl Gene ENSMUSG00000027380
Gene Nameacyl-Coenzyme A oxidase-like
Synonyms1200014P05Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00417
Quality Score
Status
Chromosome2
Chromosomal Location127838876-128123873 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 127978804 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tyrosine at position 92 (C92Y)
Ref Sequence ENSEMBL: ENSMUSP00000105973 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028859] [ENSMUST00000110344]
Predicted Effect probably damaging
Transcript: ENSMUST00000028859
AA Change: C372Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028859
Gene: ENSMUSG00000027380
AA Change: C372Y

DomainStartEndE-ValueType
Pfam:Acyl-CoA_dh_M 115 223 7.2e-19 PFAM
Pfam:Acyl-CoA_dh_1 254 416 1.8e-14 PFAM
Pfam:ACOX 458 599 6.8e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110344
AA Change: C92Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105973
Gene: ENSMUSG00000027380
AA Change: C92Y

DomainStartEndE-ValueType
Pfam:Acyl-CoA_dh_1 1 136 1.2e-9 PFAM
Pfam:ACOX 175 319 1.5e-18 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,423,759 I39M probably benign Het
Actl6b G T 5: 137,554,637 R76L probably damaging Het
Ank T C 15: 27,544,351 M66T possibly damaging Het
C6 C T 15: 4,759,967 A298V possibly damaging Het
Clip4 A T 17: 71,849,942 N591Y probably damaging Het
Cntnap5b T C 1: 100,050,754 I165T probably damaging Het
Dennd1b G A 1: 139,062,940 R214H probably damaging Het
Eri2 G A 7: 119,787,741 T185I probably benign Het
Fbxo33 A G 12: 59,202,670 V476A probably damaging Het
Fer1l4 G A 2: 156,019,920 R1826* probably null Het
Fyb A T 15: 6,580,777 K277I probably damaging Het
Gli3 C A 13: 15,644,299 H229N probably damaging Het
Hmcn1 T C 1: 150,677,278 I2554V probably benign Het
Maml2 A T 9: 13,621,604 probably benign Het
Map4k4 T C 1: 40,014,532 F930L possibly damaging Het
Mmadhc T C 2: 50,289,031 D125G probably benign Het
Nipbl A G 15: 8,366,673 S139P probably damaging Het
Obscn A G 11: 59,006,788 L6647P unknown Het
Ppara C A 15: 85,801,067 H406N probably benign Het
Psg27 T A 7: 18,561,917 H201L probably benign Het
Qser1 A T 2: 104,786,903 I1188N probably damaging Het
Rc3h1 T C 1: 160,955,981 probably null Het
Sept2 C T 1: 93,499,142 H158Y probably damaging Het
Snx9 C A 17: 5,891,897 Q100K probably benign Het
Spata5 A G 3: 37,451,802 I677V possibly damaging Het
Thnsl2 G A 6: 71,131,900 T309I probably damaging Het
Thsd7b A G 1: 129,595,834 R125G probably damaging Het
Tmem62 T G 2: 121,006,964 probably null Het
Tnpo3 A T 6: 29,578,461 probably null Het
Trpc6 A T 9: 8,680,438 D889V probably damaging Het
Tubgcp6 C A 15: 89,104,008 V913L probably benign Het
Uox A T 3: 146,627,810 M255L probably benign Het
Other mutations in Acoxl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01397:Acoxl APN 2 128034891 missense possibly damaging 0.67
IGL02502:Acoxl APN 2 128075884 missense probably damaging 1.00
gulch UTSW 2 128123024 missense probably benign 0.02
Gully UTSW 2 128044391 missense possibly damaging 0.62
P4748:Acoxl UTSW 2 128086344 splice site probably benign
R0450:Acoxl UTSW 2 127880503 splice site probably null
R0469:Acoxl UTSW 2 127880503 splice site probably null
R0510:Acoxl UTSW 2 127880503 splice site probably null
R1257:Acoxl UTSW 2 128044366 missense probably benign 0.01
R1703:Acoxl UTSW 2 127978772 missense probably damaging 0.99
R1726:Acoxl UTSW 2 127880446 missense probably damaging 1.00
R1867:Acoxl UTSW 2 127877787 missense probably damaging 1.00
R2103:Acoxl UTSW 2 127972606 missense probably damaging 0.97
R2168:Acoxl UTSW 2 127878781 missense probably damaging 1.00
R2761:Acoxl UTSW 2 127877813 missense probably benign 0.01
R3895:Acoxl UTSW 2 127972525 splice site probably benign
R4370:Acoxl UTSW 2 127878788 missense possibly damaging 0.95
R4571:Acoxl UTSW 2 127877807 missense probably damaging 1.00
R4727:Acoxl UTSW 2 127978738 missense probably damaging 1.00
R4851:Acoxl UTSW 2 128044391 missense possibly damaging 0.62
R4962:Acoxl UTSW 2 128075890 missense probably damaging 0.98
R5248:Acoxl UTSW 2 128075935 critical splice donor site probably null
R5392:Acoxl UTSW 2 128010168 critical splice donor site probably null
R5411:Acoxl UTSW 2 127854901 missense probably benign 0.00
R5418:Acoxl UTSW 2 127877802 missense probably benign 0.34
R5507:Acoxl UTSW 2 127884474 missense probably damaging 0.99
R5681:Acoxl UTSW 2 127972639 missense possibly damaging 0.93
R5738:Acoxl UTSW 2 127877766 missense probably benign 0.21
R6325:Acoxl UTSW 2 128123024 missense probably benign 0.02
R6800:Acoxl UTSW 2 128010165 missense probably damaging 1.00
R7027:Acoxl UTSW 2 128010083 missense probably benign
R7098:Acoxl UTSW 2 127854915 nonsense probably null
R7165:Acoxl UTSW 2 128123108 missense probably benign
R7395:Acoxl UTSW 2 127884416 missense probably damaging 1.00
R7697:Acoxl UTSW 2 127978782 missense probably benign 0.01
Z1088:Acoxl UTSW 2 127872195 missense probably damaging 1.00
Posted On2012-04-20