Incidental Mutation 'R7127:Aox4'
ID 552366
Institutional Source Beutler Lab
Gene Symbol Aox4
Ensembl Gene ENSMUSG00000038242
Gene Name aldehyde oxidase 4
Synonyms AOH2, 2310003G12Rik
MMRRC Submission 045246-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7127 (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 58268033 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 204 (N204K)
Ref Sequence ENSEMBL: ENSMUSP00000048929 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040442]
AlphaFold Q3TYQ9
Predicted Effect probably benign
Transcript: ENSMUST00000040442
AA Change: N204K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000048929
Gene: ENSMUSG00000038242
AA Change: N204K

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 C T 7: 119,931,825 (GRCm39) T26I probably benign Het
Adam5 A T 8: 25,300,797 (GRCm39) I244N probably damaging Het
Adam7 A G 14: 68,752,218 (GRCm39) probably null Het
Arl13b C T 16: 62,622,102 (GRCm39) G397D probably damaging Het
AU041133 T C 10: 81,986,700 (GRCm39) F118L probably benign Het
Brinp1 C T 4: 68,711,260 (GRCm39) R316H probably benign Het
Cabcoco1 C T 10: 68,272,160 (GRCm39) V268I probably benign Het
Car15 T C 16: 17,656,060 (GRCm39) probably benign Het
Ccdc185 G T 1: 182,576,421 (GRCm39) D89E possibly damaging Het
Cckar T A 5: 53,863,817 (GRCm39) Y48F probably damaging Het
Cdyl T A 13: 36,040,651 (GRCm39) S282T probably benign Het
Clca3a1 T C 3: 144,711,806 (GRCm39) T730A probably damaging Het
Cracr2b T C 7: 141,045,695 (GRCm39) S318P possibly damaging Het
Depdc1b T C 13: 108,460,462 (GRCm39) F24S probably damaging Het
Duox2 C T 2: 122,122,430 (GRCm39) G565D probably benign Het
Ehbp1 A T 11: 22,003,529 (GRCm39) Y1073* probably null Het
Epg5 A T 18: 78,072,140 (GRCm39) N2384I probably damaging Het
Fam171b A G 2: 83,710,110 (GRCm39) D594G probably benign Het
Flad1 A G 3: 89,310,725 (GRCm39) Y441H probably damaging Het
Fn1 T C 1: 71,636,703 (GRCm39) T2150A probably benign Het
Fnta C A 8: 26,497,231 (GRCm39) R206L probably damaging Het
Gadd45b A T 10: 80,766,999 (GRCm39) M95L probably benign Het
Gbp8 A T 5: 105,165,578 (GRCm39) H358Q probably benign Het
Glipr1l3 C A 10: 111,983,995 (GRCm39) G157V probably damaging Het
Hoxc13 T C 15: 102,829,903 (GRCm39) I94T possibly damaging Het
Hunk A G 16: 90,272,779 (GRCm39) D361G probably damaging Het
Igkv3-4 T A 6: 70,649,155 (GRCm39) Y51* probably null Het
Kif26a C T 12: 112,144,579 (GRCm39) P1611L probably damaging Het
Lamb1 T C 12: 31,374,314 (GRCm39) L1559P probably damaging Het
Lrrc8d T C 5: 105,960,829 (GRCm39) V413A probably damaging Het
Med6 C T 12: 81,635,774 (GRCm39) R86Q probably damaging Het
Myrf A T 19: 10,192,705 (GRCm39) S605T probably benign Het
Or6c66b T A 10: 129,376,936 (GRCm39) C177S probably damaging Het
Plk3 A T 4: 116,987,767 (GRCm39) V429E probably benign Het
Plrg1 C T 3: 82,967,222 (GRCm39) P131L probably damaging Het
Plscr4 C T 9: 92,372,831 (GRCm39) R318* probably null Het
Rab34 A T 11: 78,082,056 (GRCm39) K152* probably null Het
Rasef A T 4: 73,662,369 (GRCm39) S194T probably damaging Het
Rcc1 A G 4: 132,062,107 (GRCm39) S269P probably damaging Het
Resf1 T C 6: 149,229,443 (GRCm39) F830L possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,121 (GRCm39) probably benign Het
Ryr2 C T 13: 11,670,599 (GRCm39) V3466M probably damaging Het
Scin A G 12: 40,155,071 (GRCm39) I174T possibly damaging Het
Serpinb8 A G 1: 107,525,200 (GRCm39) M1V probably null Het
Smok3c A T 5: 138,062,971 (GRCm39) I153F probably damaging Het
Spen G A 4: 141,203,419 (GRCm39) S1736L possibly damaging Het
Sspo T A 6: 48,426,446 (GRCm39) M155K probably benign Het
Stip1 C T 19: 6,999,178 (GRCm39) G467S possibly damaging Het
Sun2 T C 15: 79,612,100 (GRCm39) I528M probably benign Het
Syne1 G A 10: 5,193,180 (GRCm39) A3956V probably damaging Het
Taok2 G T 7: 126,466,326 (GRCm39) A831E possibly damaging Het
Tas2r126 T C 6: 42,411,739 (GRCm39) F91L probably damaging Het
Tas2r140 A G 6: 133,031,922 (GRCm39) S279P possibly damaging Het
Tiam1 A T 16: 89,657,148 (GRCm39) L696H probably damaging Het
Trank1 T G 9: 111,194,864 (GRCm39) S963A possibly damaging Het
Trf A G 9: 103,102,326 (GRCm39) V184A probably benign Het
Ttll13 T A 7: 79,903,406 (GRCm39) M231K possibly damaging Het
Tuba1a T G 15: 98,849,455 (GRCm39) T41P probably benign Het
Zfhx4 A G 3: 5,478,104 (GRCm39) Q3573R probably damaging Het
Zfp141 G A 7: 42,124,853 (GRCm39) H540Y probably 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
R6179:Aox4 UTSW 1 58,270,662 (GRCm39) missense probably benign
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
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'- GCAAATGATCAGTCCTGGGAATAC -3'
(R):5'- CCCTGCTTTGATTATCTATTGGAAG -3'

Sequencing Primer
(F):5'- GGGAATACACAATTCAGCTCTGTGC -3'
(R):5'- GAGAATGACTCCATTATGGTGAACAC -3'
Posted On 2019-05-15