Incidental Mutation 'R7243:Aox3'
ID 563325
Institutional Source Beutler Lab
Gene Symbol Aox3
Ensembl Gene ENSMUSG00000064294
Gene Name aldehyde oxidase 3
Synonyms 1200011D03Rik, AOH1
MMRRC Submission 045307-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7243 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 58152289-58239857 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 58177466 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 227 (G227V)
Ref Sequence ENSEMBL: ENSMUSP00000140140 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040999] [ENSMUST00000162011]
AlphaFold G3X982
Predicted Effect probably benign
Transcript: ENSMUST00000040999
SMART Domains Protein: ENSMUSP00000049391
Gene: ENSMUSG00000064294

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 unknown
Transcript: ENSMUST00000162011
AA Change: G227V
SMART Domains Protein: ENSMUSP00000140140
Gene: ENSMUSG00000064294
AA Change: G227V

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% (73/74)
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 G A 11: 69,781,297 (GRCm39) H103Y probably benign Het
Adamdec1 A G 14: 68,809,203 (GRCm39) M253T probably benign Het
Alox15 C A 11: 70,241,540 (GRCm39) G114C probably null Het
Atp8a2 A T 14: 59,885,291 (GRCm39) N1144K probably benign Het
Cacna1c C T 6: 118,614,690 (GRCm39) probably null Het
Cog6 A T 3: 52,909,736 (GRCm39) W314R probably damaging Het
Col5a2 A G 1: 45,415,320 (GRCm39) I1473T probably benign Het
Csmd1 T A 8: 15,965,357 (GRCm39) D3218V probably damaging Het
Cyp3a11 A G 5: 145,795,613 (GRCm39) M446T probably damaging Het
Dhps A G 8: 85,801,567 (GRCm39) Y340C probably benign Het
Dnah7b A G 1: 46,122,914 (GRCm39) N108S probably benign Het
Dnajb1 C T 8: 84,337,393 (GRCm39) P323L probably damaging Het
Dspp TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG 5: 104,326,227 (GRCm39) probably benign Het
Dync2h1 G T 9: 7,102,405 (GRCm39) T2665K possibly damaging Het
Etv1 C T 12: 38,907,045 (GRCm39) S349L probably benign Het
Fam171a1 A T 2: 3,119,653 (GRCm39) T21S probably benign Het
Fbh1 T A 2: 11,756,336 (GRCm39) T749S probably benign Het
Fcho2 T C 13: 98,891,724 (GRCm39) D346G possibly damaging Het
Fcrl5 A G 3: 87,349,552 (GRCm39) H109R probably benign Het
Fstl1 A G 16: 37,647,088 (GRCm39) S153G probably benign Het
Fyb1 T C 15: 6,673,180 (GRCm39) F605L probably benign Het
Gcat T A 15: 78,921,063 (GRCm39) M363K possibly damaging Het
Gm10604 T C 4: 11,980,113 (GRCm39) T64A unknown Het
Grin2d A G 7: 45,515,552 (GRCm39) L147P probably damaging Het
Ift88 A T 14: 57,667,993 (GRCm39) probably null Het
Ighg1 A T 12: 113,294,066 (GRCm39) C26S Het
Ing2 A G 8: 48,127,574 (GRCm39) S48P probably damaging Het
Kat6a C T 8: 23,428,791 (GRCm39) T1382I probably benign Het
Kdm1a A G 4: 136,279,265 (GRCm39) V765A probably damaging Het
Klk1b26 T C 7: 43,665,691 (GRCm39) S168P not run Het
Klk1b26 A G 7: 43,666,337 (GRCm39) N260S probably damaging Het
Lama3 G A 18: 12,552,902 (GRCm39) G438D probably damaging Het
Larp6 T A 9: 60,620,569 (GRCm39) D27E probably benign Het
Lrba T A 3: 86,658,823 (GRCm39) probably null Het
Lrig2 A T 3: 104,404,883 (GRCm39) probably null Het
Megf9 T C 4: 70,353,708 (GRCm39) E366G probably benign Het
Mob1b T A 5: 88,891,304 (GRCm39) D52E probably damaging Het
Ndufb3 A T 1: 58,630,282 (GRCm39) H11L unknown Het
Odc1 T G 12: 17,600,058 (GRCm39) Y407* probably null Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Opa1 A G 16: 29,405,814 (GRCm39) I126M probably benign Het
Or2t47 T C 11: 58,442,227 (GRCm39) I279M probably damaging Het
Or3a1b T A 11: 74,012,559 (GRCm39) V148E probably damaging Het
Or51a10 A G 7: 103,698,962 (GRCm39) Y200H probably damaging Het
Or51f5 A T 7: 102,430,865 (GRCm39) T61S probably benign Het
Pcca A G 14: 123,114,186 (GRCm39) H633R probably benign Het
Pcdhb22 A G 18: 37,653,685 (GRCm39) R461G probably benign Het
Pcf11 A T 7: 92,309,268 (GRCm39) D647E probably damaging Het
Plscr1l1 A G 9: 92,225,726 (GRCm39) Y16C probably damaging Het
Plxnd1 T A 6: 115,949,468 (GRCm39) I773F probably benign Het
Prl8a1 A T 13: 27,766,086 (GRCm39) L3Q probably damaging Het
Psg17 C A 7: 18,552,640 (GRCm39) G212C probably damaging Het
Ptbp2 G T 3: 119,546,761 (GRCm39) N40K possibly damaging Het
Ptprj T C 2: 90,276,765 (GRCm39) H1102R probably damaging Het
Rbfox3 T C 11: 118,404,100 (GRCm39) Y33C probably damaging Het
Ros1 T A 10: 51,999,477 (GRCm39) N1158Y probably damaging Het
Rpgrip1l T C 8: 91,996,751 (GRCm39) I710V probably benign Het
Scn9a A G 2: 66,370,874 (GRCm39) F569L probably damaging Het
Slc12a4 A T 8: 106,680,552 (GRCm39) M190K probably damaging Het
Slc22a20 G A 19: 6,021,599 (GRCm39) R468C probably damaging Het
Slc45a2 T A 15: 11,023,436 (GRCm39) Y347N possibly damaging Het
Slc4a10 A G 2: 62,134,206 (GRCm39) Y974C probably damaging Het
Snap47 A G 11: 59,319,548 (GRCm39) S197P probably benign Het
Snph T C 2: 151,436,173 (GRCm39) S252G probably damaging Het
Spns2 A T 11: 72,347,686 (GRCm39) W335R probably damaging Het
Thnsl1 A G 2: 21,217,658 (GRCm39) I471V probably damaging Het
Tmprss11f C A 5: 86,677,975 (GRCm39) G265C probably damaging Het
Tnn C T 1: 159,934,687 (GRCm39) R1242H probably benign Het
Tsc2 T C 17: 24,818,604 (GRCm39) R1412G probably benign Het
Tsc22d2 G T 3: 58,323,884 (GRCm39) V259F unknown Het
Ttll13 A C 7: 79,903,911 (GRCm39) K280Q probably damaging Het
Wls A T 3: 159,615,402 (GRCm39) I306F possibly damaging Het
Zfp566 A G 7: 29,777,701 (GRCm39) V160A probably benign Het
Zfyve28 T C 5: 34,356,219 (GRCm39) T761A probably damaging Het
Zswim8 G A 14: 20,764,436 (GRCm39) R602Q 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
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
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'- AGTCCAGGCTTTTCAAACAGG -3'
(R):5'- GCATTGAGTTCCAGAACACGTG -3'

Sequencing Primer
(F):5'- TCCAGGCTTTTCAAACAGGAAGTAG -3'
(R):5'- GTGCCCTGGATCTAGACAATG -3'
Posted On 2019-06-26