Incidental Mutation 'R7664:Aox3'
ID 591754
Institutional Source Beutler Lab
Gene Symbol Aox3
Ensembl Gene ENSMUSG00000064294
Gene Name aldehyde oxidase 3
Synonyms 1200011D03Rik, AOH1
MMRRC Submission 045704-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7664 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 58152289-58239857 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58158698 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 90 (T90A)
Ref Sequence ENSEMBL: ENSMUSP00000049391 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040999] [ENSMUST00000162011]
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: T90A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000049391
Gene: ENSMUSG00000064294
AA Change: T90A

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 probably damaging
Transcript: ENSMUST00000162011
AA Change: T90A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140140
Gene: ENSMUSG00000064294
AA Change: T90A

DomainStartEndE-ValueType
Pfam:Fer2 12 82 3.6e-8 PFAM
Pfam:Fer2_2 91 166 2.5e-29 PFAM
transmembrane domain 242 264 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (83/84)
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca C T 11: 84,136,175 (GRCm39) T510I probably damaging Het
Akap12 G T 10: 4,303,748 (GRCm39) W291L probably damaging Het
Akip1 A T 7: 109,308,187 (GRCm39) I152F probably benign Het
Alpk2 T A 18: 65,440,073 (GRCm39) Y440F probably benign Het
Arhgef18 A T 8: 3,436,390 (GRCm39) E228V probably damaging Het
B4galnt4 A G 7: 140,647,626 (GRCm39) K405E probably damaging Het
BC034090 T C 1: 155,117,377 (GRCm39) E247G probably damaging Het
Camkk2 A T 5: 122,894,645 (GRCm39) F216I unknown Het
Carm1 A C 9: 21,498,286 (GRCm39) K430T probably benign Het
Ccdc13 A G 9: 121,643,279 (GRCm39) V374A probably benign Het
Cdh26 T A 2: 178,111,835 (GRCm39) M465K probably benign Het
Ceacam10 A T 7: 24,477,757 (GRCm39) M91L probably benign Het
Chrnb1 T C 11: 69,677,850 (GRCm39) T301A possibly damaging Het
Clec4a3 A G 6: 122,943,381 (GRCm39) D101G probably benign Het
Cmss1 G A 16: 57,138,310 (GRCm39) P59S probably benign Het
Crhr1 T A 11: 104,059,968 (GRCm39) F138L probably benign Het
Cxcl5 A T 5: 90,907,890 (GRCm39) I107F probably damaging Het
Cxcr1 A G 1: 74,231,834 (GRCm39) S63P probably damaging Het
Cxcr5 A G 9: 44,424,607 (GRCm39) L350P probably benign Het
D5Ertd579e A T 5: 36,771,961 (GRCm39) H811Q probably benign Het
Ddx46 T G 13: 55,806,864 (GRCm39) I499S probably damaging Het
Ddx51 T G 5: 110,804,785 (GRCm39) probably null Het
Dnaja1 C T 4: 40,724,090 (GRCm39) P84S probably benign Het
Dnajc27 A G 12: 4,153,132 (GRCm39) K203E possibly damaging Het
Fam107b T A 2: 3,571,747 (GRCm39) C24S probably damaging Het
Fancg T C 4: 43,010,066 (GRCm39) K11R probably benign Het
Fnip1 T C 11: 54,356,951 (GRCm39) L44P probably damaging Het
Fthl17b C T X: 8,829,043 (GRCm39) R9Q possibly damaging Het
Fthl17b C T X: 8,829,047 (GRCm39) V8M possibly damaging Het
Heca A T 10: 17,778,118 (GRCm39) L493Q probably damaging Het
Hrh2 C T 13: 54,368,875 (GRCm39) P284S probably damaging Het
Ifnar1 C G 16: 91,292,082 (GRCm39) A141G probably damaging Het
Igkv6-32 T A 6: 70,051,282 (GRCm39) T25S probably damaging Het
Inppl1 T C 7: 101,479,304 (GRCm39) H525R probably damaging Het
Itga2b A G 11: 102,351,666 (GRCm39) L553P probably damaging Het
Itgbl1 A G 14: 124,083,962 (GRCm39) Y280C probably damaging Het
Kap T C 6: 133,828,920 (GRCm39) I54V probably benign Het
Kcnh4 G T 11: 100,641,148 (GRCm39) L434M probably damaging Het
Klhl14 T C 18: 21,687,706 (GRCm39) D572G probably damaging Het
Klhl41 T A 2: 69,501,061 (GRCm39) L174Q probably damaging Het
Lrp2 T G 2: 69,337,076 (GRCm39) H1232P probably damaging Het
Lyar A G 5: 38,388,161 (GRCm39) E229G probably benign Het
Mark4 A T 7: 19,177,151 (GRCm39) L226Q probably damaging Het
Mcm8 A G 2: 132,685,453 (GRCm39) K823R probably damaging Het
Mfsd6 A T 1: 52,748,212 (GRCm39) S218T probably benign Het
Mlip A T 9: 77,045,828 (GRCm39) I884N possibly damaging Het
Mmrn1 A G 6: 60,953,689 (GRCm39) T657A probably benign Het
Morc2b A G 17: 33,355,376 (GRCm39) Y799H probably benign Het
Muc16 A T 9: 18,519,018 (GRCm39) I6304N probably benign Het
Mug1 C A 6: 121,838,179 (GRCm39) H470N possibly damaging Het
Naaladl2 T C 3: 24,112,303 (GRCm39) Y593C probably damaging Het
Ncor1 T C 11: 62,289,154 (GRCm39) E341G probably damaging Het
Nrg1 G T 8: 32,499,169 (GRCm39) probably null Het
Nudt3 A G 17: 27,842,149 (GRCm39) L4P probably benign Het
Odf2l T A 3: 144,854,345 (GRCm39) H493Q probably benign Het
Ost4 A C 5: 31,065,007 (GRCm39) probably null Het
Patj A T 4: 98,385,187 (GRCm39) Q840L possibly damaging Het
Pcdh20 T A 14: 88,706,803 (GRCm39) T166S probably benign Het
Pcdhb4 T A 18: 37,442,293 (GRCm39) D534E probably damaging Het
Pik3ap1 T C 19: 41,310,069 (GRCm39) D417G possibly damaging Het
Ppwd1 A T 13: 104,356,798 (GRCm39) V239E probably damaging Het
Prdm9 T A 17: 15,775,833 (GRCm39) Y206F probably damaging Het
Ranbp6 A G 19: 29,789,476 (GRCm39) V292A possibly damaging Het
Rgs21 T A 1: 144,416,987 (GRCm39) M22L probably benign Het
Rnf17 A T 14: 56,676,335 (GRCm39) I399F probably damaging Het
Rph3a T A 5: 121,099,339 (GRCm39) Q184L probably benign Het
Scrn3 T C 2: 73,149,714 (GRCm39) Y137H possibly damaging Het
Sec14l4 C A 11: 3,994,178 (GRCm39) Y342* probably null Het
Serpinb11 G A 1: 107,307,718 (GRCm39) G383D probably damaging Het
Sf3b1 A G 1: 55,026,626 (GRCm39) V1261A probably damaging Het
Sh3tc2 C T 18: 62,148,042 (GRCm39) Q1251* probably null Het
Skor1 A T 9: 63,049,045 (GRCm39) D845E probably benign Het
Slc39a7 A G 17: 34,248,551 (GRCm39) L364P probably damaging Het
Snrpn T C 7: 59,637,239 (GRCm39) I26V probably benign Het
Snx5 A T 2: 144,099,924 (GRCm39) probably null Het
Spag9 T C 11: 93,992,986 (GRCm39) probably null Het
Srrm2 T C 17: 24,039,955 (GRCm39) S2200P probably damaging Het
Stx11 T C 10: 12,817,070 (GRCm39) E218G probably damaging Het
Tmem151b T C 17: 45,856,861 (GRCm39) N193S probably damaging Het
Tmem87b A T 2: 128,690,974 (GRCm39) D525V possibly damaging Het
Ubtfl1 A T 9: 18,320,782 (GRCm39) R103S possibly damaging Het
Vmn1r196 T A 13: 22,477,932 (GRCm39) D190E probably damaging Het
Vmn2r67 T A 7: 84,805,019 (GRCm39) D31V probably benign Het
Zbtb22 T A 17: 34,137,553 (GRCm39) M566K probably benign Het
Zfp568 A T 7: 29,721,715 (GRCm39) H220L probably benign Het
Zfp974 A T 7: 27,610,137 (GRCm39) S529R 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
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
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
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'- TTGAGGAGGCAATGACTTTCTTAG -3'
(R):5'- GTGGGGCTCTCAAGTCAAAATC -3'

Sequencing Primer
(F):5'- GGAGGCAATGACTTTCTTAGTTAAC -3'
(R):5'- CATATAGTTCACCAGCAGCTTAGGG -3'
Posted On 2019-11-12