Incidental Mutation 'IGL01727:Aox1'
ID105330
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aox1
Ensembl Gene ENSMUSG00000063558
Gene Namealdehyde oxidase 1
SynonymsAox-1, Aox2, retinal oxidase, Aox-2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01727
Quality Score
Status
Chromosome1
Chromosomal Location58029931-58106413 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 58073228 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Stop codon at position 720 (C720*)
Ref Sequence ENSEMBL: ENSMUSP00000001027 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001027]
Predicted Effect probably null
Transcript: ENSMUST00000001027
AA Change: C720*
SMART Domains Protein: ENSMUSP00000001027
Gene: ENSMUSG00000063558
AA Change: C720*

DomainStartEndE-ValueType
Pfam:Fer2 8 78 8.5e-11 PFAM
Pfam:Fer2_2 87 161 2.4e-32 PFAM
low complexity region 197 209 N/A INTRINSIC
Pfam:FAD_binding_5 238 418 1.2e-46 PFAM
CO_deh_flav_C 425 529 8.06e-24 SMART
Ald_Xan_dh_C 593 696 6.99e-42 SMART
Pfam:Ald_Xan_dh_C2 707 1240 2.1e-176 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160168
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Aldehyde oxidase produces hydrogen peroxide and, under certain conditions, can catalyze the formation of superoxide. Aldehyde oxidase is a candidate gene for amyotrophic lateral sclerosis. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam19 C T 11: 46,121,553 A292V probably benign Het
Ankrd26 A G 6: 118,511,636 L1354P probably damaging Het
Aqp5 T C 15: 99,591,621 L117P probably damaging Het
BC005561 A G 5: 104,519,513 T634A probably benign Het
Col9a3 T C 2: 180,616,565 probably null Het
Ctrc T C 4: 141,843,761 Y56C probably damaging Het
Dsc2 T A 18: 20,038,200 T581S probably benign Het
Grap2 T C 15: 80,634,409 I51T probably damaging Het
Herc2 A G 7: 56,137,806 Y1737C probably damaging Het
Hook3 A G 8: 26,070,159 M346T probably benign Het
Lancl1 C T 1: 67,020,942 C108Y probably damaging Het
Lpin2 T C 17: 71,246,452 C824R probably damaging Het
Mlip T C 9: 77,239,748 S88G probably damaging Het
Mtdh T G 15: 34,083,109 L25R probably damaging Het
Musk A G 4: 58,303,887 I177V probably benign Het
Nov G A 15: 54,746,238 A45T probably benign Het
Olfr1148 T C 2: 87,833,500 S154P probably damaging Het
Olfr1186 A G 2: 88,525,927 M115V probably benign Het
Olfr1504 A G 19: 13,887,878 C111R probably damaging Het
Pabpc4l C A 3: 46,446,665 E181D probably damaging Het
Pcdh18 A G 3: 49,755,700 S389P probably damaging Het
Ptk7 A G 17: 46,572,548 Y864H probably damaging Het
Rbp4 A G 19: 38,124,052 V155A probably benign Het
Rilpl1 C T 5: 124,530,944 A14T possibly damaging Het
Rnf148 T A 6: 23,655,002 probably benign Het
Rnf219 G A 14: 104,479,387 R517* probably null Het
Ska2 T A 11: 87,116,147 L26Q probably damaging Het
Slc29a2 T A 19: 5,026,458 F125I probably damaging Het
Smap2 A G 4: 120,982,208 probably benign Het
St6galnac2 C T 11: 116,685,119 D169N probably damaging Het
Supt7l A G 5: 31,520,342 V160A possibly damaging Het
Susd1 A G 4: 59,412,329 probably benign Het
Syne1 T C 10: 5,047,842 D375G probably damaging Het
Tpst2 G A 5: 112,309,858 D351N probably damaging Het
Trcg1 T C 9: 57,242,273 I376T probably benign Het
Trcg1 T A 9: 57,242,594 I483N probably damaging Het
Tsga10 T C 1: 37,835,274 E148G probably damaging Het
Zranb1 G T 7: 132,966,620 D336Y probably damaging Het
Other mutations in Aox1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Aox1 APN 1 58059044 missense probably damaging 1.00
IGL01077:Aox1 APN 1 58057410 splice site probably benign
IGL01335:Aox1 APN 1 58082153 nonsense probably null
IGL01410:Aox1 APN 1 58106025 splice site probably null
IGL01684:Aox1 APN 1 58077581 splice site probably null
IGL01805:Aox1 APN 1 58081513 missense possibly damaging 0.94
IGL01996:Aox1 APN 1 58082066 missense probably benign 0.11
IGL02060:Aox1 APN 1 58097955 missense possibly damaging 0.95
IGL02206:Aox1 APN 1 58065340 missense probably benign 0.00
IGL02839:Aox1 APN 1 58068784 missense probably benign 0.05
IGL02975:Aox1 APN 1 58068391 missense probably damaging 1.00
IGL03062:Aox1 APN 1 58078465 missense probably benign 0.01
IGL03286:Aox1 APN 1 58049384 missense probably benign 0.19
IGL03335:Aox1 APN 1 58076160 missense probably damaging 0.98
IGL03395:Aox1 APN 1 58068725 splice site probably benign
R0048:Aox1 UTSW 1 58073212 missense probably damaging 0.98
R0144:Aox1 UTSW 1 58070074 missense probably benign 0.00
R0207:Aox1 UTSW 1 58105014 missense possibly damaging 0.82
R0357:Aox1 UTSW 1 58092516 missense probably damaging 1.00
R0383:Aox1 UTSW 1 58061241 missense probably benign 0.00
R0399:Aox1 UTSW 1 58068849 splice site probably null
R0465:Aox1 UTSW 1 58062207 missense probably damaging 1.00
R0480:Aox1 UTSW 1 58043651 splice site probably benign
R1005:Aox1 UTSW 1 58065352 missense probably benign 0.00
R1507:Aox1 UTSW 1 58104451 missense probably benign 0.01
R1597:Aox1 UTSW 1 58047167 missense probably damaging 1.00
R1693:Aox1 UTSW 1 58085542 missense probably damaging 1.00
R1709:Aox1 UTSW 1 58077474 missense probably benign
R1869:Aox1 UTSW 1 58076103 missense probably damaging 1.00
R1870:Aox1 UTSW 1 58076103 missense probably damaging 1.00
R1898:Aox1 UTSW 1 58078442 missense probably damaging 1.00
R1908:Aox1 UTSW 1 58102624 missense probably damaging 1.00
R2002:Aox1 UTSW 1 58047141 missense possibly damaging 0.69
R2062:Aox1 UTSW 1 58059192 splice site probably null
R2065:Aox1 UTSW 1 58059192 splice site probably null
R2265:Aox1 UTSW 1 58081520 missense probably damaging 0.99
R3713:Aox1 UTSW 1 58056215 missense probably benign 0.01
R3778:Aox1 UTSW 1 58053703 missense possibly damaging 0.89
R4198:Aox1 UTSW 1 58085607 missense probably benign
R4296:Aox1 UTSW 1 58057400 splice site probably null
R4562:Aox1 UTSW 1 58059056 missense probably damaging 0.99
R4858:Aox1 UTSW 1 58104481 missense probably benign
R4862:Aox1 UTSW 1 58095157 missense probably damaging 0.98
R5048:Aox1 UTSW 1 58059482 splice site probably benign
R5127:Aox1 UTSW 1 58030026 missense probably benign 0.00
R5139:Aox1 UTSW 1 58061297 missense probably benign 0.03
R5157:Aox1 UTSW 1 58070063 missense probably damaging 1.00
R5168:Aox1 UTSW 1 58049402 missense probably damaging 1.00
R5186:Aox1 UTSW 1 58068370 missense probably damaging 1.00
R5235:Aox1 UTSW 1 58057555 missense possibly damaging 0.77
R5289:Aox1 UTSW 1 58092558 missense probably damaging 0.99
R5466:Aox1 UTSW 1 58041460 missense probably damaging 1.00
R5540:Aox1 UTSW 1 58104410 missense probably benign 0.03
R5615:Aox1 UTSW 1 58096966 missense probably benign
R5652:Aox1 UTSW 1 58095197 missense probably damaging 1.00
R5920:Aox1 UTSW 1 58049472 missense probably damaging 1.00
R6008:Aox1 UTSW 1 58077513 missense probably damaging 1.00
R6073:Aox1 UTSW 1 58104509 critical splice donor site probably null
R6215:Aox1 UTSW 1 58085461 missense probably benign
R6403:Aox1 UTSW 1 58068435 missense probably damaging 1.00
R6440:Aox1 UTSW 1 58094472 missense probably damaging 1.00
R6601:Aox1 UTSW 1 58063506 missense probably damaging 1.00
R6608:Aox1 UTSW 1 58057546 missense probably benign 0.40
R6752:Aox1 UTSW 1 58047239 missense probably benign 0.00
R6989:Aox1 UTSW 1 58085452 missense probably damaging 1.00
R7042:Aox1 UTSW 1 58102600 missense probably damaging 0.99
R7442:Aox1 UTSW 1 58082013 missense probably damaging 1.00
R7506:Aox1 UTSW 1 58049403 missense probably damaging 1.00
R7563:Aox1 UTSW 1 58047145 missense probably benign 0.32
R7589:Aox1 UTSW 1 58041484 missense probably damaging 1.00
R7735:Aox1 UTSW 1 58068292 missense probably benign 0.01
R7814:Aox1 UTSW 1 58085467 missense probably benign
R7876:Aox1 UTSW 1 58062171 nonsense probably null
R7905:Aox1 UTSW 1 58104398 missense possibly damaging 0.72
R7908:Aox1 UTSW 1 58106068 missense possibly damaging 0.68
R7959:Aox1 UTSW 1 58062171 nonsense probably null
R7988:Aox1 UTSW 1 58104398 missense possibly damaging 0.72
R7989:Aox1 UTSW 1 58106068 missense possibly damaging 0.68
Z1088:Aox1 UTSW 1 58081542 missense probably benign 0.01
Posted On2014-01-21