Incidental Mutation 'IGL02839:Aox1'
ID361761
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 #IGL02839
Quality Score
Status
Chromosome1
Chromosomal Location58029931-58106413 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 58068784 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 642 (T642A)
Ref Sequence ENSEMBL: ENSMUSP00000001027 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001027]
Predicted Effect probably benign
Transcript: ENSMUST00000001027
AA Change: T642A

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000001027
Gene: ENSMUSG00000063558
AA Change: T642A

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A3galt2 T C 4: 128,760,023 probably null Het
Aldh1l1 T C 6: 90,569,875 F387L possibly damaging Het
Aldh5a1 A G 13: 24,911,620 S505P probably damaging Het
Atg16l2 T C 7: 101,293,397 I364V probably damaging Het
Atp2c2 T C 8: 119,749,120 V584A possibly damaging Het
Axl A T 7: 25,766,791 probably null Het
Camta1 T C 4: 151,144,512 Q621R probably damaging Het
Cdca4 A T 12: 112,821,891 D72E probably damaging Het
Col1a2 T A 6: 4,538,748 Y1223N unknown Het
Drc1 T C 5: 30,350,423 M263T probably benign Het
Eef1akmt1 A T 14: 57,549,781 Y213N probably damaging Het
Fat3 C A 9: 15,919,170 D4343Y probably damaging Het
Gm813 A G 16: 58,615,847 Y38H probably damaging Het
Gucy2d T C 7: 98,443,989 V191A possibly damaging Het
Hdac5 A G 11: 102,204,908 L355P probably damaging Het
Hdgfl3 C T 7: 81,900,412 G58D probably damaging Het
Hnrnpul1 A G 7: 25,733,242 probably null Het
Klf12 A T 14: 99,900,239 C290* probably null Het
Mtmr3 A T 11: 4,487,994 I820N probably benign Het
Myo7a A T 7: 98,091,122 L555Q probably damaging Het
Nrsn1 A G 13: 25,253,544 C134R probably damaging Het
Olfr1094 T A 2: 86,829,368 N205K probably benign Het
Olfr1205 G A 2: 88,831,648 C177Y probably damaging Het
Olfr159 T A 4: 43,770,943 K23* probably null Het
Olfr206 A T 16: 59,345,390 C104S probably benign Het
Olfr59 T A 11: 74,289,370 C241* probably null Het
Olfr681 A C 7: 105,122,356 T300P probably damaging Het
Pik3r6 A G 11: 68,526,412 E60G probably damaging Het
Pkhd1l1 T A 15: 44,529,543 I1758N probably damaging Het
Poc1b A G 10: 99,144,598 probably benign Het
Rnf103 G T 6: 71,509,705 R440L probably benign Het
Siglec1 A G 2: 131,084,932 V237A possibly damaging Het
Skiv2l T C 17: 34,847,798 T165A probably benign Het
Slit3 A G 11: 35,649,047 N762S possibly damaging Het
Trank1 A G 9: 111,364,756 N616S probably damaging Het
Trav14d-3-dv8 C A 14: 53,078,790 Q36K possibly damaging Het
Ttll6 T C 11: 96,158,820 V788A probably damaging Het
Ube4b A T 4: 149,368,399 S357T probably damaging Het
Unc80 A G 1: 66,671,675 H2701R possibly damaging Het
Wdfy3 A G 5: 101,968,920 S85P 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
IGL01727:Aox1 APN 1 58073228 nonsense 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
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
Z1088:Aox1 UTSW 1 58081542 missense probably benign 0.01
Posted On2015-12-18