Incidental Mutation 'R6179:Aox4'
ID 487910
Institutional Source Beutler Lab
Gene Symbol Aox4
Ensembl Gene ENSMUSG00000038242
Gene Name aldehyde oxidase 4
Synonyms AOH2, 2310003G12Rik
MMRRC Submission 044321-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6179 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 58249556-58307756 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 58270662 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 280 (D280E)
Ref Sequence ENSEMBL: ENSMUSP00000048929 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040442]
AlphaFold Q3TYQ9
Predicted Effect probably benign
Transcript: ENSMUST00000040442
AA Change: D280E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000048929
Gene: ENSMUSG00000038242
AA Change: D280E

DomainStartEndE-ValueType
Pfam:Fer2 12 82 1.6e-10 PFAM
Pfam:Fer2_2 91 165 4.6e-30 PFAM
Pfam:FAD_binding_5 240 421 2.7e-47 PFAM
CO_deh_flav_C 428 532 1.19e-26 SMART
Ald_Xan_dh_C 596 699 8.22e-39 SMART
Pfam:Ald_Xan_dh_C2 709 1243 1.1e-178 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161833
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.5%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit a slight decrease in prenatal survival and epidermal thickening that is exacerbated by UV treatment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930426L09Rik T C 2: 19,003,653 (GRCm39) probably benign Het
4930590J08Rik T C 6: 91,919,311 (GRCm39) S657P probably damaging Het
Abca9 T C 11: 110,025,080 (GRCm39) I988V probably benign Het
Acte1 A G 7: 143,425,524 (GRCm39) T58A probably benign Het
Apob T A 12: 8,055,060 (GRCm39) L1353* probably null Het
Atp2b1 C T 10: 98,858,691 (GRCm39) R222C probably damaging Het
AW209491 T G 13: 14,811,668 (GRCm39) S174A possibly damaging Het
B930094E09Rik G C 18: 31,742,911 (GRCm39) probably benign Het
Cbln3 G T 14: 56,121,517 (GRCm39) P43Q possibly damaging Het
Ccdc181 A T 1: 164,107,487 (GRCm39) T57S probably benign Het
Ccr2 A C 9: 123,906,008 (GRCm39) N96T probably damaging Het
Cep131 T C 11: 119,956,837 (GRCm39) I868V probably benign Het
Chd2 A G 7: 73,094,071 (GRCm39) I1535T probably damaging Het
Chl1 A T 6: 103,660,204 (GRCm39) T377S probably benign Het
Cpeb3 A G 19: 37,065,853 (GRCm39) F439L probably damaging Het
Crb2 T C 2: 37,680,269 (GRCm39) V399A probably damaging Het
Cry2 C T 2: 92,244,187 (GRCm39) G329R probably damaging Het
Dock4 A G 12: 40,781,868 (GRCm39) E691G probably benign Het
Edil3 A T 13: 88,970,108 (GRCm39) H3L probably benign Het
Endod1 T C 9: 14,268,757 (GRCm39) I243V probably benign Het
Fpr3 G A 17: 18,190,919 (GRCm39) W63* probably null Het
Gtse1 T G 15: 85,753,158 (GRCm39) N424K possibly damaging Het
Kcnt1 G A 2: 25,783,192 (GRCm39) V252M probably damaging Het
Kifbp G A 10: 62,399,029 (GRCm39) Q130* probably null Het
Lmbrd2 T G 15: 9,149,262 (GRCm39) I48M probably damaging Het
Lrrc7 T G 3: 158,059,069 (GRCm39) I13L probably damaging Het
Mbd4 A G 6: 115,822,386 (GRCm39) S408P probably benign Het
Mphosph10 A G 7: 64,028,529 (GRCm39) V542A possibly damaging Het
Msto1 C A 3: 88,818,254 (GRCm39) R331L probably damaging Het
Myh10 G A 11: 68,692,979 (GRCm39) E1425K probably damaging Het
Nup43 T C 10: 7,554,437 (GRCm39) I340T probably benign Het
Or1j4 T C 2: 36,740,846 (GRCm39) S263P possibly damaging Het
Pcm1 T A 8: 41,736,669 (GRCm39) M884K probably damaging Het
Phf20 T A 2: 156,140,573 (GRCm39) L749H probably damaging Het
Pigp T C 16: 94,171,226 (GRCm39) R22G probably null Het
Polr2b T C 5: 77,468,824 (GRCm39) M200T probably damaging Het
Ppig T A 2: 69,580,471 (GRCm39) D668E unknown Het
Prss3 G A 6: 41,352,060 (GRCm39) R68C probably benign Het
Retreg3 G A 11: 100,994,721 (GRCm39) probably benign Het
Shank1 T C 7: 44,006,630 (GRCm39) F2116L possibly damaging Het
Spg21 T C 9: 65,376,090 (GRCm39) S33P possibly damaging Het
Spns3 A G 11: 72,390,349 (GRCm39) S432P probably damaging Het
Stra6 A G 9: 58,042,452 (GRCm39) E27G probably damaging Het
Tanc1 A G 2: 59,673,320 (GRCm39) Q1468R probably benign Het
Tbce T G 13: 14,194,362 (GRCm39) E99A probably benign Het
Tmem106b T C 6: 13,084,252 (GRCm39) V252A probably damaging Het
Trim10 A G 17: 37,187,923 (GRCm39) T380A probably damaging Het
Trim31 T A 17: 37,220,501 (GRCm39) D472E probably damaging Het
Vmn2r28 G A 7: 5,491,003 (GRCm39) Q415* probably null Het
Vwf G A 6: 125,626,252 (GRCm39) C7Y unknown Het
Yeats2 C T 16: 20,033,225 (GRCm39) P1088L probably benign Het
Zfp40 C A 17: 23,397,354 (GRCm39) V48L possibly damaging Het
Other mutations in Aox4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00959:Aox4 APN 1 58,278,333 (GRCm39) missense probably damaging 1.00
IGL01011:Aox4 APN 1 58,279,934 (GRCm39) nonsense probably null
IGL01634:Aox4 APN 1 58,261,089 (GRCm39) missense possibly damaging 0.81
IGL01689:Aox4 APN 1 58,284,320 (GRCm39) splice site probably benign
IGL01874:Aox4 APN 1 58,291,243 (GRCm39) missense probably damaging 1.00
IGL02104:Aox4 APN 1 58,275,816 (GRCm39) splice site probably benign
IGL02744:Aox4 APN 1 58,294,711 (GRCm39) missense possibly damaging 0.90
IGL02751:Aox4 APN 1 58,298,211 (GRCm39) missense probably damaging 1.00
IGL03225:Aox4 APN 1 58,286,386 (GRCm39) missense possibly damaging 0.94
IGL03247:Aox4 APN 1 58,303,526 (GRCm39) missense probably damaging 1.00
IGL03369:Aox4 APN 1 58,301,746 (GRCm39) missense probably benign 0.01
BB008:Aox4 UTSW 1 58,294,645 (GRCm39) missense probably benign 0.07
BB018:Aox4 UTSW 1 58,294,645 (GRCm39) missense probably benign 0.07
R0138:Aox4 UTSW 1 58,268,025 (GRCm39) missense probably damaging 1.00
R0243:Aox4 UTSW 1 58,252,235 (GRCm39) missense probably benign
R0368:Aox4 UTSW 1 58,252,238 (GRCm39) missense probably benign 0.07
R0499:Aox4 UTSW 1 58,302,556 (GRCm39) critical splice donor site probably null
R0513:Aox4 UTSW 1 58,286,459 (GRCm39) missense probably damaging 1.00
R0513:Aox4 UTSW 1 58,256,678 (GRCm39) missense probably benign
R0546:Aox4 UTSW 1 58,289,333 (GRCm39) missense probably damaging 1.00
R0591:Aox4 UTSW 1 58,278,261 (GRCm39) splice site probably benign
R0825:Aox4 UTSW 1 58,288,068 (GRCm39) missense possibly damaging 0.55
R1912:Aox4 UTSW 1 58,303,561 (GRCm39) missense probably damaging 1.00
R1934:Aox4 UTSW 1 58,285,095 (GRCm39) missense probably benign 0.01
R2180:Aox4 UTSW 1 58,252,226 (GRCm39) missense probably benign 0.00
R2293:Aox4 UTSW 1 58,261,096 (GRCm39) missense probably damaging 0.99
R3017:Aox4 UTSW 1 58,274,363 (GRCm39) missense probably benign
R3744:Aox4 UTSW 1 58,285,029 (GRCm39) missense probably damaging 1.00
R3745:Aox4 UTSW 1 58,285,029 (GRCm39) missense probably damaging 1.00
R3830:Aox4 UTSW 1 58,294,670 (GRCm39) missense probably damaging 0.99
R3856:Aox4 UTSW 1 58,293,093 (GRCm39) missense probably damaging 1.00
R4214:Aox4 UTSW 1 58,261,051 (GRCm39) missense probably damaging 0.99
R4484:Aox4 UTSW 1 58,301,730 (GRCm39) missense probably damaging 1.00
R4706:Aox4 UTSW 1 58,305,946 (GRCm39) missense probably damaging 1.00
R4710:Aox4 UTSW 1 58,294,797 (GRCm39) missense probably damaging 1.00
R4729:Aox4 UTSW 1 58,298,236 (GRCm39) nonsense probably null
R4769:Aox4 UTSW 1 58,298,307 (GRCm39) missense probably null 1.00
R4809:Aox4 UTSW 1 58,305,808 (GRCm39) missense probably damaging 1.00
R4989:Aox4 UTSW 1 58,275,835 (GRCm39) missense probably benign 0.00
R5082:Aox4 UTSW 1 58,270,642 (GRCm39) missense possibly damaging 0.63
R5102:Aox4 UTSW 1 58,279,937 (GRCm39) missense probably damaging 1.00
R5114:Aox4 UTSW 1 58,285,445 (GRCm39) missense possibly damaging 0.89
R5133:Aox4 UTSW 1 58,275,835 (GRCm39) missense probably benign 0.00
R5134:Aox4 UTSW 1 58,275,835 (GRCm39) missense probably benign 0.00
R5185:Aox4 UTSW 1 58,293,477 (GRCm39) missense probably damaging 1.00
R5217:Aox4 UTSW 1 58,285,400 (GRCm39) nonsense probably null
R5426:Aox4 UTSW 1 58,259,253 (GRCm39) missense probably damaging 1.00
R5443:Aox4 UTSW 1 58,273,151 (GRCm39) splice site probably null
R5708:Aox4 UTSW 1 58,285,032 (GRCm39) missense possibly damaging 0.69
R6052:Aox4 UTSW 1 58,293,477 (GRCm39) nonsense probably null
R6167:Aox4 UTSW 1 58,303,094 (GRCm39) missense probably damaging 1.00
R6196:Aox4 UTSW 1 58,256,685 (GRCm39) missense probably damaging 1.00
R6513:Aox4 UTSW 1 58,252,212 (GRCm39) missense probably benign 0.01
R6781:Aox4 UTSW 1 58,284,268 (GRCm39) missense probably benign 0.03
R6885:Aox4 UTSW 1 58,303,537 (GRCm39) missense probably damaging 1.00
R7082:Aox4 UTSW 1 58,263,352 (GRCm39) missense possibly damaging 0.82
R7127:Aox4 UTSW 1 58,268,033 (GRCm39) missense probably benign 0.00
R7153:Aox4 UTSW 1 58,289,378 (GRCm39) missense probably damaging 0.99
R7371:Aox4 UTSW 1 58,303,013 (GRCm39) missense probably damaging 1.00
R7690:Aox4 UTSW 1 58,303,076 (GRCm39) missense probably damaging 1.00
R7745:Aox4 UTSW 1 58,279,866 (GRCm39) missense probably benign 0.01
R7752:Aox4 UTSW 1 58,293,107 (GRCm39) missense not run
R7767:Aox4 UTSW 1 58,274,366 (GRCm39) missense probably damaging 0.98
R7782:Aox4 UTSW 1 58,270,251 (GRCm39) splice site probably null
R7931:Aox4 UTSW 1 58,294,645 (GRCm39) missense probably benign 0.07
R7978:Aox4 UTSW 1 58,274,366 (GRCm39) missense probably damaging 0.98
R7982:Aox4 UTSW 1 58,296,400 (GRCm39) missense possibly damaging 0.81
R8316:Aox4 UTSW 1 58,293,470 (GRCm39) missense possibly damaging 0.69
R8361:Aox4 UTSW 1 58,279,998 (GRCm39) missense probably benign 0.03
R8829:Aox4 UTSW 1 58,294,649 (GRCm39) missense probably benign 0.01
R8832:Aox4 UTSW 1 58,294,649 (GRCm39) missense probably benign 0.01
R8896:Aox4 UTSW 1 58,291,233 (GRCm39) missense probably benign
R9103:Aox4 UTSW 1 58,296,441 (GRCm39) missense probably damaging 1.00
R9241:Aox4 UTSW 1 58,291,345 (GRCm39) missense probably damaging 1.00
R9282:Aox4 UTSW 1 58,285,028 (GRCm39) missense possibly damaging 0.59
R9487:Aox4 UTSW 1 58,288,097 (GRCm39) missense probably benign 0.00
R9493:Aox4 UTSW 1 58,286,434 (GRCm39) missense probably benign 0.01
R9557:Aox4 UTSW 1 58,285,095 (GRCm39) missense probably benign 0.00
R9616:Aox4 UTSW 1 58,268,020 (GRCm39) missense possibly damaging 0.81
R9644:Aox4 UTSW 1 58,267,278 (GRCm39) missense probably benign 0.01
R9683:Aox4 UTSW 1 58,278,462 (GRCm39) critical splice donor site probably null
R9727:Aox4 UTSW 1 58,286,473 (GRCm39) missense probably benign 0.43
R9767:Aox4 UTSW 1 58,274,357 (GRCm39) missense probably benign 0.05
X0021:Aox4 UTSW 1 58,286,454 (GRCm39) nonsense probably null
X0028:Aox4 UTSW 1 58,293,342 (GRCm39) missense probably damaging 0.99
Z1176:Aox4 UTSW 1 58,285,510 (GRCm39) missense possibly damaging 0.49
Predicted Primers PCR Primer
(F):5'- GGGCACAGCTTGTTTCTATTC -3'
(R):5'- TGACACAGCTGAGTGAGGTATTC -3'

Sequencing Primer
(F):5'- CTATTCATGGGACTCAGGCTCG -3'
(R):5'- TAACCACGAAGTCACTGTGAATG -3'
Posted On 2017-10-10