Incidental Mutation 'IGL02545:Aox3'
ID 297784
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aox3
Ensembl Gene ENSMUSG00000064294
Gene Name aldehyde oxidase 3
Synonyms 1200011D03Rik, AOH1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02545
Quality Score
Status
Chromosome 1
Chromosomal Location 58152289-58239857 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 58222645 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 1146 (D1146A)
Ref Sequence ENSEMBL: ENSMUSP00000049391 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040999]
AlphaFold G3X982
PDB Structure Crystal structure of the mouse liver Aldehyde Oxidase 3 (mAOX3) [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000040999
AA Change: D1146A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000049391
Gene: ENSMUSG00000064294
AA Change: D1146A

DomainStartEndE-ValueType
Pfam:Fer2 12 82 1.4e-9 PFAM
Pfam:Fer2_2 91 165 1e-29 PFAM
Pfam:FAD_binding_5 239 419 1e-44 PFAM
CO_deh_flav_C 426 530 9.26e-24 SMART
Ald_Xan_dh_C 594 697 2.27e-41 SMART
Pfam:Ald_Xan_dh_C2 708 1241 8.7e-183 PFAM
low complexity region 1275 1286 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930523C07Rik T C 1: 159,902,994 (GRCm39) L88P probably damaging Het
Adamtsl4 G A 3: 95,590,684 (GRCm39) Q354* probably null Het
Ap2a1 T A 7: 44,555,850 (GRCm39) H340L probably damaging Het
Ccni G T 5: 93,335,636 (GRCm39) F167L probably benign Het
Ctcf A G 8: 106,391,013 (GRCm39) T207A probably benign Het
D930020B18Rik A G 10: 121,525,838 (GRCm39) H580R possibly damaging Het
Dnaaf6rt A G 1: 31,262,177 (GRCm39) D53G probably damaging Het
Dock3 A T 9: 106,939,271 (GRCm39) L159Q probably damaging Het
Dync1i2 T C 2: 71,093,095 (GRCm39) I630T possibly damaging Het
Fchsd2 A G 7: 100,847,715 (GRCm39) T202A probably benign Het
Gdi2 A G 13: 3,607,009 (GRCm39) Y214C probably damaging Het
Gna14 T A 19: 16,511,090 (GRCm39) S46R probably damaging Het
Hfm1 A G 5: 107,043,153 (GRCm39) I627T probably damaging Het
Ighv1-19 G A 12: 114,672,359 (GRCm39) A87V probably damaging Het
Itch G A 2: 155,014,506 (GRCm39) probably null Het
Klrb1b T C 6: 128,797,272 (GRCm39) Q72R possibly damaging Het
Lrpprc A G 17: 85,082,853 (GRCm39) F144L probably benign Het
Lrrc7 A G 3: 157,891,011 (GRCm39) probably benign Het
Ndufa11 T A 17: 57,028,338 (GRCm39) F72L probably damaging Het
Neu1 T A 17: 35,150,477 (GRCm39) V32E probably benign Het
Or5k17 T A 16: 58,746,833 (GRCm39) I34F possibly damaging Het
Osmr T C 15: 6,853,060 (GRCm39) K611E probably damaging Het
Pcdh20 A G 14: 88,706,280 (GRCm39) V340A possibly damaging Het
Plxna2 T A 1: 194,468,998 (GRCm39) probably benign Het
Pou6f1 C T 15: 100,481,306 (GRCm39) W210* probably null Het
Ppat A G 5: 77,063,079 (GRCm39) Y511H probably damaging Het
Psme4 T G 11: 30,791,586 (GRCm39) V1147G possibly damaging Het
Scap C T 9: 110,207,758 (GRCm39) T489I probably benign Het
Sptb A G 12: 76,654,754 (GRCm39) probably null Het
Tcl1b5 T A 12: 105,146,296 (GRCm39) probably benign Het
Trim54 T A 5: 31,289,509 (GRCm39) probably benign Het
Unc13c C T 9: 73,388,357 (GRCm39) R2143Q probably damaging Het
Vmn1r56 A T 7: 5,199,113 (GRCm39) V168D probably benign Het
Vmn2r66 A T 7: 84,655,798 (GRCm39) M406K possibly damaging Het
Other mutations in Aox3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01599:Aox3 APN 1 58,208,953 (GRCm39) missense probably damaging 1.00
IGL01747:Aox3 APN 1 58,198,817 (GRCm39) missense probably damaging 0.97
IGL01883:Aox3 APN 1 58,177,442 (GRCm39) missense probably damaging 1.00
IGL01911:Aox3 APN 1 58,191,719 (GRCm39) missense probably benign 0.04
IGL02017:Aox3 APN 1 58,160,151 (GRCm39) missense probably damaging 1.00
IGL02120:Aox3 APN 1 58,166,809 (GRCm39) missense probably benign 0.00
IGL02466:Aox3 APN 1 58,197,431 (GRCm39) missense probably benign 0.28
IGL02572:Aox3 APN 1 58,197,526 (GRCm39) missense probably damaging 1.00
IGL02746:Aox3 APN 1 58,222,701 (GRCm39) missense possibly damaging 0.83
IGL02808:Aox3 APN 1 58,181,859 (GRCm39) missense probably damaging 0.99
IGL02812:Aox3 APN 1 58,205,055 (GRCm39) missense probably benign 0.00
IGL02982:Aox3 APN 1 58,166,846 (GRCm39) missense probably benign 0.00
IGL03056:Aox3 APN 1 58,198,180 (GRCm39) critical splice donor site probably null
IGL03182:Aox3 APN 1 58,205,046 (GRCm39) missense probably benign 0.02
IGL03234:Aox3 APN 1 58,191,845 (GRCm39) missense probably benign
IGL03374:Aox3 APN 1 58,211,007 (GRCm39) missense probably damaging 1.00
amber UTSW 1 58,211,050 (GRCm39) nonsense probably null
R0071:Aox3 UTSW 1 58,211,050 (GRCm39) nonsense probably null
R0071:Aox3 UTSW 1 58,211,050 (GRCm39) nonsense probably null
R0135:Aox3 UTSW 1 58,164,247 (GRCm39) splice site probably benign
R0332:Aox3 UTSW 1 58,181,910 (GRCm39) missense probably benign 0.00
R0626:Aox3 UTSW 1 58,211,458 (GRCm39) missense possibly damaging 0.94
R1325:Aox3 UTSW 1 58,215,726 (GRCm39) nonsense probably null
R1435:Aox3 UTSW 1 58,202,605 (GRCm39) critical splice donor site probably null
R1438:Aox3 UTSW 1 58,192,337 (GRCm39) missense probably benign
R1567:Aox3 UTSW 1 58,233,852 (GRCm39) missense probably damaging 0.96
R1575:Aox3 UTSW 1 58,191,713 (GRCm39) missense probably benign 0.04
R1759:Aox3 UTSW 1 58,209,805 (GRCm39) splice site probably null
R1785:Aox3 UTSW 1 58,209,002 (GRCm39) missense probably damaging 1.00
R1786:Aox3 UTSW 1 58,209,002 (GRCm39) missense probably damaging 1.00
R1921:Aox3 UTSW 1 58,219,810 (GRCm39) missense probably damaging 1.00
R1984:Aox3 UTSW 1 58,192,220 (GRCm39) missense possibly damaging 0.88
R2012:Aox3 UTSW 1 58,177,391 (GRCm39) missense probably benign 0.02
R2080:Aox3 UTSW 1 58,225,439 (GRCm39) missense probably benign 0.06
R2121:Aox3 UTSW 1 58,191,708 (GRCm39) splice site probably benign
R2126:Aox3 UTSW 1 58,197,375 (GRCm39) missense probably benign 0.25
R2130:Aox3 UTSW 1 58,209,002 (GRCm39) missense probably damaging 1.00
R2131:Aox3 UTSW 1 58,209,002 (GRCm39) missense probably damaging 1.00
R2132:Aox3 UTSW 1 58,209,002 (GRCm39) missense probably damaging 1.00
R2133:Aox3 UTSW 1 58,209,002 (GRCm39) missense probably damaging 1.00
R2385:Aox3 UTSW 1 58,177,448 (GRCm39) missense probably damaging 1.00
R2495:Aox3 UTSW 1 58,227,567 (GRCm39) missense probably damaging 0.99
R4200:Aox3 UTSW 1 58,227,537 (GRCm39) missense probably damaging 1.00
R4231:Aox3 UTSW 1 58,154,044 (GRCm39) missense probably benign 0.12
R4591:Aox3 UTSW 1 58,191,815 (GRCm39) missense probably damaging 0.99
R4627:Aox3 UTSW 1 58,164,194 (GRCm39) missense probably damaging 0.98
R4831:Aox3 UTSW 1 58,191,725 (GRCm39) missense probably damaging 0.97
R4864:Aox3 UTSW 1 58,215,646 (GRCm39) missense probably damaging 1.00
R4976:Aox3 UTSW 1 58,227,683 (GRCm39) critical splice donor site probably null
R5007:Aox3 UTSW 1 58,202,583 (GRCm39) missense probably benign
R5119:Aox3 UTSW 1 58,227,683 (GRCm39) critical splice donor site probably null
R5175:Aox3 UTSW 1 58,211,487 (GRCm39) missense probably benign 0.01
R5360:Aox3 UTSW 1 58,185,667 (GRCm39) missense probably damaging 1.00
R5784:Aox3 UTSW 1 58,192,658 (GRCm39) missense probably benign 0.00
R6050:Aox3 UTSW 1 58,219,814 (GRCm39) missense possibly damaging 0.93
R6056:Aox3 UTSW 1 58,209,018 (GRCm39) missense probably damaging 1.00
R6162:Aox3 UTSW 1 58,198,890 (GRCm39) missense possibly damaging 0.75
R6181:Aox3 UTSW 1 58,198,105 (GRCm39) missense probably benign 0.03
R6374:Aox3 UTSW 1 58,211,320 (GRCm39) missense probably benign 0.11
R6662:Aox3 UTSW 1 58,157,774 (GRCm39) missense probably damaging 1.00
R6809:Aox3 UTSW 1 58,157,840 (GRCm39) missense probably damaging 0.99
R6810:Aox3 UTSW 1 58,180,590 (GRCm39) missense probably benign 0.00
R6821:Aox3 UTSW 1 58,189,547 (GRCm39) missense probably benign 0.04
R7039:Aox3 UTSW 1 58,215,714 (GRCm39) missense probably damaging 1.00
R7116:Aox3 UTSW 1 58,192,689 (GRCm39) missense probably benign 0.01
R7146:Aox3 UTSW 1 58,197,688 (GRCm39) splice site probably null
R7163:Aox3 UTSW 1 58,158,671 (GRCm39) missense probably damaging 0.99
R7243:Aox3 UTSW 1 58,177,466 (GRCm39) missense unknown
R7319:Aox3 UTSW 1 58,191,761 (GRCm39) missense probably benign 0.04
R7423:Aox3 UTSW 1 58,160,228 (GRCm39) missense possibly damaging 0.80
R7664:Aox3 UTSW 1 58,158,698 (GRCm39) missense probably damaging 1.00
R7709:Aox3 UTSW 1 58,219,810 (GRCm39) missense probably damaging 1.00
R7745:Aox3 UTSW 1 58,215,676 (GRCm39) missense possibly damaging 0.75
R7751:Aox3 UTSW 1 58,218,494 (GRCm39) missense probably benign 0.11
R7912:Aox3 UTSW 1 58,181,855 (GRCm39) missense probably benign 0.05
R7940:Aox3 UTSW 1 58,227,596 (GRCm39) missense probably damaging 1.00
R8143:Aox3 UTSW 1 58,198,074 (GRCm39) missense probably benign 0.05
R8178:Aox3 UTSW 1 58,189,481 (GRCm39) missense possibly damaging 0.64
R8719:Aox3 UTSW 1 58,158,696 (GRCm39) missense probably damaging 1.00
R8861:Aox3 UTSW 1 58,189,460 (GRCm39) missense probably benign
R9379:Aox3 UTSW 1 58,208,959 (GRCm39) missense possibly damaging 0.77
R9459:Aox3 UTSW 1 58,189,468 (GRCm39) missense probably benign 0.10
R9472:Aox3 UTSW 1 58,215,669 (GRCm39) missense possibly damaging 0.47
R9479:Aox3 UTSW 1 58,177,568 (GRCm39) missense probably benign 0.23
R9521:Aox3 UTSW 1 58,164,222 (GRCm39) missense probably benign 0.10
R9750:Aox3 UTSW 1 58,215,648 (GRCm39) nonsense probably null
Posted On 2015-04-16