Incidental Mutation 'R4729:Aox4'
ID 358646
Institutional Source Beutler Lab
Gene Symbol Aox4
Ensembl Gene ENSMUSG00000038242
Gene Name aldehyde oxidase 4
Synonyms AOH2, 2310003G12Rik
MMRRC Submission 041603-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4729 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 58249556-58307756 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 58298236 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 1067 (Y1067*)
Ref Sequence ENSEMBL: ENSMUSP00000048929 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040442]
AlphaFold Q3TYQ9
Predicted Effect probably null
Transcript: ENSMUST00000040442
AA Change: Y1067*
SMART Domains Protein: ENSMUSP00000048929
Gene: ENSMUSG00000038242
AA Change: Y1067*

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: ENSMUST00000161126
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161833
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T A 16: 4,667,187 (GRCm39) L220H unknown Het
Amt T A 9: 108,177,851 (GRCm39) L272Q probably damaging Het
Ank2 G C 3: 126,770,545 (GRCm39) Y894* probably null Het
Ankzf1 T A 1: 75,170,908 (GRCm39) F105I probably damaging Het
BC034090 T A 1: 155,100,836 (GRCm39) Q476L probably damaging Het
Bhmt G T 13: 93,763,871 (GRCm39) R57S probably damaging Het
Cacna1c A T 6: 118,633,136 (GRCm39) F964L probably damaging Het
Celsr3 A C 9: 108,724,851 (GRCm39) S396R probably benign Het
Cpne4 C A 9: 104,799,755 (GRCm39) Q191K probably damaging Het
Csnk1g2 T C 10: 80,475,038 (GRCm39) Y352H probably benign Het
D630003M21Rik A G 2: 158,058,623 (GRCm39) S426P probably damaging Het
Dennd10 T A 19: 60,823,309 (GRCm39) F315I probably benign Het
Dido1 G T 2: 180,329,443 (GRCm39) N326K probably benign Het
E2f2 T A 4: 135,911,760 (GRCm39) I257N probably damaging Het
Elfn1 T G 5: 139,959,413 (GRCm39) F806V probably damaging Het
Eml6 T A 11: 29,783,204 (GRCm39) Y559F probably damaging Het
Erich6 A G 3: 58,543,480 (GRCm39) probably null Het
Fam78a T C 2: 31,972,617 (GRCm39) N101S probably damaging Het
Fam83h A G 15: 75,874,185 (GRCm39) S1051P probably benign Het
Galns C T 8: 123,330,195 (GRCm39) G112D probably damaging Het
Gm9923 A G 10: 72,145,524 (GRCm39) K125R probably damaging Het
Hectd3 G A 4: 116,854,415 (GRCm39) V326M probably damaging Het
Iars2 A G 1: 185,048,248 (GRCm39) S495P possibly damaging Het
Ice1 T C 13: 70,754,503 (GRCm39) R528G probably damaging Het
Igkv12-38 T A 6: 69,920,368 (GRCm39) Y50F possibly damaging Het
Inpp5j T C 11: 3,445,025 (GRCm39) S883G probably damaging Het
Irf8 T C 8: 121,480,178 (GRCm39) S139P probably damaging Het
Itpr2 A G 6: 146,274,671 (GRCm39) F837S probably damaging Het
Kcnq4 G T 4: 120,570,271 (GRCm39) D357E possibly damaging Het
Klhl1 A G 14: 96,517,584 (GRCm39) L364P probably damaging Het
Krt7 A G 15: 101,318,439 (GRCm39) I309V probably benign Het
Krt76 G T 15: 101,797,516 (GRCm39) A281D probably damaging Het
Lancl2 T C 6: 57,714,697 (GRCm39) F430L probably damaging Het
Llgl2 T C 11: 115,739,125 (GRCm39) V332A probably damaging Het
Lrrc26 A T 2: 25,180,076 (GRCm39) T26S probably benign Het
Lrrk1 T A 7: 65,912,041 (GRCm39) M1840L probably benign Het
Lyst G A 13: 13,812,486 (GRCm39) C966Y probably damaging Het
Mad1l1 T A 5: 140,247,266 (GRCm39) S354C possibly damaging Het
Mbtps1 C T 8: 120,252,159 (GRCm39) G577D probably damaging Het
Mycbp2 C T 14: 103,426,027 (GRCm39) R2366H probably damaging Het
Myo18a T G 11: 77,668,511 (GRCm39) probably null Het
Naip5 G A 13: 100,358,639 (GRCm39) R866C possibly damaging Het
Nav2 T A 7: 49,102,567 (GRCm39) V455E probably benign Het
Neb A G 2: 52,153,674 (GRCm39) I2417T possibly damaging Het
Nme5 C T 18: 34,702,890 (GRCm39) A133T probably benign Het
Nradd T C 9: 110,450,979 (GRCm39) D51G possibly damaging Het
Pard3b A G 1: 62,250,843 (GRCm39) R591G probably damaging Het
Pcbp4 T C 9: 106,337,929 (GRCm39) F73S probably damaging Het
Pcdhb11 C T 18: 37,555,419 (GRCm39) Q250* probably null Het
Pde1c T A 6: 56,049,194 (GRCm39) K766N probably damaging Het
Phf21b G A 15: 84,738,942 (GRCm39) Q40* probably null Het
Prr14 A G 7: 127,073,868 (GRCm39) D244G probably benign Het
Rab11fip5 C T 6: 85,351,249 (GRCm39) A88T probably damaging Het
Rad54l2 A T 9: 106,593,317 (GRCm39) S428T probably benign Het
Rdh9 A G 10: 127,612,621 (GRCm39) I90V probably benign Het
Rhag G T 17: 41,139,292 (GRCm39) G76C probably damaging Het
Riok3 T A 18: 12,261,984 (GRCm39) V6E possibly damaging Het
Rnf7l A T 10: 63,257,244 (GRCm39) V92E probably damaging Het
Scn10a A G 9: 119,500,592 (GRCm39) I229T probably damaging Het
Slco1a1 G T 6: 141,854,695 (GRCm39) T652K probably benign Het
Slit1 T A 19: 41,635,459 (GRCm39) I345F probably damaging Het
Snrnp200 A T 2: 127,074,857 (GRCm39) I1477F probably damaging Het
Snx31 G A 15: 36,523,698 (GRCm39) T328I possibly damaging Het
Strn A G 17: 78,965,390 (GRCm39) F634S probably damaging Het
Tmem101 C T 11: 102,047,155 (GRCm39) G6R probably benign Het
Tmem199 C G 11: 78,399,506 (GRCm39) G131R probably benign Het
Trim66 A G 7: 109,055,267 (GRCm39) probably null Het
Ttn G T 2: 76,681,929 (GRCm39) probably benign Het
Upk3bl T C 5: 136,086,247 (GRCm39) L61P probably benign Het
Vmn2r108 A G 17: 20,692,632 (GRCm39) Y75H probably damaging Het
Vmn2r91 T A 17: 18,327,906 (GRCm39) I500K probably damaging Het
Vps18 C T 2: 119,124,272 (GRCm39) R400C probably damaging Het
Zeb1 C T 18: 5,767,286 (GRCm39) P599L probably damaging Het
Zfhx4 G T 3: 5,464,557 (GRCm39) A1572S probably damaging Het
Zfp677 T A 17: 21,617,680 (GRCm39) C246S possibly damaging Het
Zfp719 T A 7: 43,239,834 (GRCm39) I474N 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
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
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'- GTCTACAAGAAGAGGTGTGTCC -3'
(R):5'- AGTGCACTAGAGCTATGCCTC -3'

Sequencing Primer
(F):5'- GTCCTTGACATGTGGTTTAAAACCC -3'
(R):5'- AGAGCTATGCCTCCCTTCAC -3'
Posted On 2015-11-11