Incidental Mutation 'R6374:Aox3'
ID 513653
Institutional Source Beutler Lab
Gene Symbol Aox3
Ensembl Gene ENSMUSG00000064294
Gene Name aldehyde oxidase 3
Synonyms 1200011D03Rik, AOH1
MMRRC Submission 044524-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6374 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 58152289-58239857 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58211320 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 959 (I959T)
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 benign
Transcript: ENSMUST00000040999
AA Change: I959T

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000049391
Gene: ENSMUSG00000064294
AA Change: I959T

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160815
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.4%
Validation Efficiency 99% (75/76)
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik A C 2: 151,314,800 (GRCm39) S293A possibly damaging Het
5430401F13Rik A T 6: 131,529,892 (GRCm39) Q162L unknown Het
Abca8a A T 11: 109,974,216 (GRCm39) Y239* probably null Het
Atad2b T C 12: 5,068,002 (GRCm39) V1000A probably damaging Het
Atic C T 1: 71,604,100 (GRCm39) T221M probably damaging Het
Atp1a2 C T 1: 172,116,942 (GRCm39) R225H probably damaging Het
BC024139 A G 15: 76,004,657 (GRCm39) probably null Het
Bpi A T 2: 158,113,974 (GRCm39) T291S probably damaging Het
Ccdc170 C T 10: 4,499,746 (GRCm39) Q556* probably null Het
Cd3e G A 9: 44,920,661 (GRCm39) L12F probably benign Het
Cdc42ep1 A T 15: 78,731,649 (GRCm39) R31S probably damaging Het
Cyp21a1 G T 17: 35,023,110 (GRCm39) probably null Het
Dnase1l3 A G 14: 7,974,115 (GRCm38) M192T probably damaging Het
Dnmt1 A T 9: 20,835,341 (GRCm39) H330Q possibly damaging Het
Enah T C 1: 181,751,145 (GRCm39) E232G unknown Het
Etnppl C T 3: 130,414,342 (GRCm39) T73I probably damaging Het
Fam83b T A 9: 76,400,189 (GRCm39) I305F probably benign Het
Galnt15 T A 14: 31,780,116 (GRCm39) I471N probably damaging Het
Gm19965 T A 1: 116,750,021 (GRCm39) N567K probably benign Het
Golga1 T C 2: 38,924,080 (GRCm39) Q435R probably benign Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Hao1 T G 2: 134,365,024 (GRCm39) D201A probably benign Het
Heg1 T C 16: 33,547,499 (GRCm39) L786P possibly damaging Het
Hnrnpll A T 17: 80,357,303 (GRCm39) C238S possibly damaging Het
Hrg A G 16: 22,779,742 (GRCm39) Y340C probably damaging Het
Kyat3 A T 3: 142,443,998 (GRCm39) I411F probably damaging Het
Myo1a T C 10: 127,543,549 (GRCm39) Y202H probably damaging Het
Nags T C 11: 102,037,337 (GRCm39) C143R possibly damaging Het
Ncoa6 T C 2: 155,263,076 (GRCm39) N453D probably damaging Het
Nup35 G T 2: 80,488,730 (GRCm39) M322I probably benign Het
Oprl1 T C 2: 181,357,721 (GRCm39) V69A probably damaging Het
Or51v14 A G 7: 103,261,128 (GRCm39) L144P probably benign Het
Pappa2 T A 1: 158,784,215 (GRCm39) Y265F probably damaging Het
Pcsk6 C T 7: 65,629,903 (GRCm39) P343L possibly damaging Het
Peak1 C A 9: 56,164,950 (GRCm39) D993Y probably damaging Het
Polr2a T C 11: 69,627,758 (GRCm39) Y1383C probably damaging Het
Ppme1 A G 7: 99,990,272 (GRCm39) S226P probably damaging Het
Prom1 C T 5: 44,213,325 (GRCm39) C127Y probably damaging Het
Ptpn6 A T 6: 124,709,532 (GRCm39) probably null Het
Reln T C 5: 22,285,712 (GRCm39) E419G probably benign Het
Rnf32 C T 5: 29,430,266 (GRCm39) Q362* probably null Het
Sbspon T C 1: 15,953,887 (GRCm39) D131G probably benign Het
Scyl3 T C 1: 163,776,783 (GRCm39) S392P probably benign Het
Shtn1 T A 19: 59,026,728 (GRCm39) D121V possibly damaging Het
Sin3a A G 9: 57,024,765 (GRCm39) T1042A probably benign Het
Sipa1l2 A T 8: 126,171,369 (GRCm39) V1371D probably damaging Het
Slc20a2 T C 8: 23,055,668 (GRCm39) V584A possibly damaging Het
Smc6 T A 12: 11,355,874 (GRCm39) probably null Het
Spata31h1 T A 10: 82,124,731 (GRCm39) probably benign Het
Specc1 C T 11: 62,047,418 (GRCm39) T849I possibly damaging Het
Spta1 T A 1: 174,041,734 (GRCm39) L1368H probably damaging Het
Sqle A G 15: 59,187,959 (GRCm39) E89G possibly damaging Het
Strbp A G 2: 37,493,020 (GRCm39) V422A probably damaging Het
Sult6b1 G T 17: 79,214,360 (GRCm39) T21K probably benign Het
Tex15 A G 8: 34,065,940 (GRCm39) E1790G probably damaging Het
Tmem88b T A 4: 155,870,221 (GRCm39) probably benign Het
Traf3ip3 T C 1: 192,864,318 (GRCm39) D355G possibly damaging Het
Trim24 T A 6: 37,930,484 (GRCm39) V576E probably benign Het
Trim30c C T 7: 104,039,609 (GRCm39) G62D probably benign Het
Trim66 T G 7: 109,085,269 (GRCm39) K100N probably benign Het
Tsnaxip1 A T 8: 106,568,172 (GRCm39) T313S possibly damaging Het
Ugt2b37 A T 5: 87,390,279 (GRCm39) I389N probably damaging Het
Unc13a C T 8: 72,094,097 (GRCm39) V1335M possibly damaging Het
Urah A G 7: 140,415,124 (GRCm39) T5A probably benign Het
Usp34 T C 11: 23,388,914 (GRCm39) Y2185H probably damaging Het
Usp44 T C 10: 93,692,172 (GRCm39) S643P probably benign Het
Vars2 A G 17: 35,970,937 (GRCm39) V631A probably damaging Het
Vmn2r11 G A 5: 109,201,679 (GRCm39) T275I possibly damaging Het
Vmn2r54 C A 7: 12,349,420 (GRCm39) V721F probably damaging Het
Vmn2r79 T C 7: 86,651,498 (GRCm39) I299T probably benign Het
Vps13d T C 4: 144,849,251 (GRCm39) T2387A probably damaging Het
Washc5 A T 15: 59,209,044 (GRCm39) L610Q probably benign Het
Zbtb21 T C 16: 97,751,568 (GRCm39) E905G probably damaging Het
Zfhx4 A G 3: 5,309,095 (GRCm39) T774A probably damaging Het
Zfp534 T C 4: 147,759,299 (GRCm39) I457V probably benign Het
Zfp964 T C 8: 70,111,994 (GRCm39) Y29H possibly damaging Het
Znrf4 A G 17: 56,818,702 (GRCm39) F202L probably 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
IGL02545:Aox3 APN 1 58,222,645 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TAGTTCCCCAGACCACGGTG -3'
(R):5'- TGCCTTTGGAATTATTGTCTAAGAC -3'

Sequencing Primer
(F):5'- CCCAGACCACGGTGTTTGTTAG -3'
(R):5'- TGGAGGTCACCACAACATG -3'
Posted On 2018-04-27