Incidental Mutation 'R6513:Aox4'
ID 519977
Institutional Source Beutler Lab
Gene Symbol Aox4
Ensembl Gene ENSMUSG00000038242
Gene Name aldehyde oxidase 4
Synonyms AOH2, 2310003G12Rik
MMRRC Submission 044640-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6513 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 58249556-58307756 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58252212 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 29 (N29S)
Ref Sequence ENSEMBL: ENSMUSP00000048929 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040442]
AlphaFold Q3TYQ9
Predicted Effect probably benign
Transcript: ENSMUST00000040442
AA Change: N29S

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000048929
Gene: ENSMUSG00000038242
AA Change: N29S

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: ENSMUST00000159240
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161833
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189059
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.4%
Validation Efficiency 98% (62/63)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik T C 16: 90,852,654 (GRCm39) S161G probably benign Het
Ankfy1 G A 11: 72,621,308 (GRCm39) R198Q possibly damaging Het
Ankrd11 A G 8: 123,616,919 (GRCm39) V2290A probably benign Het
Arhgap17 T C 7: 122,891,379 (GRCm39) R592G possibly damaging Het
Caap1 A T 4: 94,389,640 (GRCm39) D231E possibly damaging Het
Cabp1 T A 5: 115,307,193 (GRCm39) M165L possibly damaging Het
Calhm4 T A 10: 33,917,630 (GRCm39) R274* probably null Het
Cep72 A T 13: 74,206,582 (GRCm39) L73H probably damaging Het
Cfap74 A G 4: 155,525,743 (GRCm39) S731G probably null Het
Dsc2 T C 18: 20,179,295 (GRCm39) I258V probably benign Het
Dsg1c T G 18: 20,407,687 (GRCm39) N344K probably benign Het
Enah A G 1: 181,841,920 (GRCm39) probably benign Het
Fbn1 T A 2: 125,225,591 (GRCm39) S554C probably damaging Het
Fkrp C A 7: 16,545,037 (GRCm39) R275L possibly damaging Het
Gbp4 C T 5: 105,270,986 (GRCm39) G215D possibly damaging Het
Gli2 G A 1: 118,783,284 (GRCm39) L239F probably damaging Het
Gpr146 A G 5: 139,378,573 (GRCm39) D125G probably damaging Het
Hectd4 C A 5: 121,494,259 (GRCm39) probably null Het
Invs G A 4: 48,397,534 (GRCm39) V370I possibly damaging Het
Kdm2b A G 5: 123,018,302 (GRCm39) V1040A probably damaging Het
Kidins220 T A 12: 25,088,434 (GRCm39) V1059D possibly damaging Het
Kif26a T A 12: 112,141,926 (GRCm39) S727T probably damaging Het
Kifbp T C 10: 62,410,813 (GRCm39) probably null Het
Klk1b27 A G 7: 43,705,169 (GRCm39) H112R probably benign Het
Krt72 T G 15: 101,685,187 (GRCm39) probably null Het
Lactb C T 9: 66,878,172 (GRCm39) R219H probably damaging Het
Lrig2 A T 3: 104,373,045 (GRCm39) I612N probably damaging Het
Meaf6 A C 4: 124,983,697 (GRCm39) N51T probably damaging Het
Mtap A G 4: 89,066,498 (GRCm39) T36A possibly damaging Het
Myo3a G A 2: 22,412,143 (GRCm39) G713S probably damaging Het
Nr4a3 C T 4: 48,083,255 (GRCm39) T596I probably damaging Het
Or10ak14 A T 4: 118,611,224 (GRCm39) C172* probably null Het
Or4f14 C G 2: 111,743,228 (GRCm39) G16R possibly damaging Het
Pam A G 1: 97,765,752 (GRCm39) V759A possibly damaging Het
Pcare T A 17: 72,051,701 (GRCm39) E1217V probably damaging Het
Pds5a T A 5: 65,772,944 (GRCm39) I1220F probably benign Het
Phldb2 T A 16: 45,568,240 (GRCm39) M1222L possibly damaging Het
Phospho1 C T 11: 95,721,513 (GRCm39) A61V possibly damaging Het
Pnpla7 G A 2: 24,906,550 (GRCm39) V638I possibly damaging Het
Pramel34 C A 5: 93,785,391 (GRCm39) probably null Het
Ptf1a T A 2: 19,451,848 (GRCm39) D282E probably damaging Het
Ptgs2 A T 1: 149,975,879 (GRCm39) probably benign Het
Racgap1 T C 15: 99,522,156 (GRCm39) R471G probably damaging Het
Rptn T C 3: 93,303,419 (GRCm39) S251P possibly damaging Het
Shcbp1 T C 8: 4,794,507 (GRCm39) M429V probably benign Het
Shprh T C 10: 11,062,637 (GRCm39) L1248P probably damaging Het
Son T C 16: 91,456,835 (GRCm39) probably benign Het
Sppl3 T C 5: 115,233,995 (GRCm39) L355P probably damaging Het
Tbc1d31 A T 15: 57,818,778 (GRCm39) R794W probably damaging Het
Telo2 T C 17: 25,320,386 (GRCm39) Y766C probably damaging Het
Tfr2 A G 5: 137,572,793 (GRCm39) probably null Het
Tle4 T C 19: 14,429,056 (GRCm39) D722G probably damaging Het
Tprg1l A G 4: 154,243,862 (GRCm39) V98A probably benign Het
Trak1 C T 9: 121,272,822 (GRCm39) R237C probably benign Het
Vmn2r113 T C 17: 23,177,715 (GRCm39) I833T probably damaging Het
Vmn2r118 T A 17: 55,915,093 (GRCm39) S518C probably damaging Het
Vmn2r49 A G 7: 9,710,524 (GRCm39) I736T probably damaging Het
Wdr38 T A 2: 38,889,970 (GRCm39) probably null Het
Wee2 A G 6: 40,429,553 (GRCm39) E180G probably benign Het
Zbtb1 T C 12: 76,432,604 (GRCm39) S197P possibly damaging Het
Zc3h7a T C 16: 10,976,629 (GRCm39) probably null Het
Zfp516 T A 18: 82,973,835 (GRCm39) L11Q probably damaging Het
Zfp623 G A 15: 75,819,317 (GRCm39) R91H probably benign Het
Zkscan7 G A 9: 122,725,170 (GRCm39) R713Q probably benign 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
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'- AACGTCACTGTTTCTTCAGACC -3'
(R):5'- TTGCTTACCTAGAGGGAACGC -3'

Sequencing Primer
(F):5'- CTTCAGACCTTTGGTTCCAAAAATC -3'
(R):5'- TGCCTCCCAAGTGCTAGGATTAAAG -3'
Posted On 2018-06-06