Incidental Mutation 'R5708:Aox4'
ID 452058
Institutional Source Beutler Lab
Gene Symbol Aox4
Ensembl Gene ENSMUSG00000038242
Gene Name aldehyde oxidase 4
Synonyms AOH2, 2310003G12Rik
MMRRC Submission 043333-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5708 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 58249556-58307756 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 58285032 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 595 (A595S)
Ref Sequence ENSEMBL: ENSMUSP00000048929 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040442]
AlphaFold Q3TYQ9
Predicted Effect possibly damaging
Transcript: ENSMUST00000040442
AA Change: A595S

PolyPhen 2 Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000048929
Gene: ENSMUSG00000038242
AA Change: A595S

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161926
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 98% (65/66)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067K01Rik A G 8: 84,729,627 (GRCm39) K101R probably benign Het
4933430I17Rik T C 4: 62,444,106 (GRCm39) S18P probably benign Het
Adgb C T 10: 10,267,501 (GRCm39) V940I probably damaging Het
Asxl2 T A 12: 3,550,603 (GRCm39) S782T possibly damaging Het
C1s2 A T 6: 124,602,702 (GRCm39) L503* probably null Het
C7 A G 15: 5,044,883 (GRCm39) V385A possibly damaging Het
Cdh20 T C 1: 104,912,635 (GRCm39) F630L probably damaging Het
Cdk14 A C 5: 5,316,036 (GRCm39) probably benign Het
Cdkl4 T C 17: 80,846,951 (GRCm39) I239M possibly damaging Het
Cfap299 A T 5: 98,885,566 (GRCm39) M158L probably benign Het
Col11a1 A G 3: 113,890,743 (GRCm39) N360S unknown Het
D630003M21Rik A G 2: 158,062,312 (GRCm39) probably null Het
Dchs1 G A 7: 105,422,016 (GRCm39) P135S probably damaging Het
Dpysl2 A G 14: 67,050,595 (GRCm39) S421P probably benign Het
Edn1 A T 13: 42,457,143 (GRCm39) M59L probably benign Het
EU599041 A G 7: 42,875,311 (GRCm39) noncoding transcript Het
Furin A G 7: 80,047,603 (GRCm39) probably benign Het
Gkn2 T C 6: 87,354,418 (GRCm39) L94P probably damaging Het
Gmeb2 A T 2: 180,906,782 (GRCm39) C117S probably damaging Het
Greb1 T A 12: 16,723,843 (GRCm39) I1869F probably benign Het
Heg1 A G 16: 33,562,774 (GRCm39) E1119G probably damaging Het
Hmgcs2 T A 3: 98,198,478 (GRCm39) L127Q probably damaging Het
Insyn2a C A 7: 134,520,525 (GRCm39) V2F probably damaging Het
Kcnh6 A G 11: 105,911,082 (GRCm39) R493G probably benign Het
Kcnj11 C T 7: 45,749,242 (GRCm39) R27H probably benign Het
Klra14-ps A G 6: 130,134,751 (GRCm39) noncoding transcript Het
Lgmn A T 12: 102,370,587 (GRCm39) N114K possibly damaging Het
Lipg C T 18: 75,088,505 (GRCm39) M148I possibly damaging Het
Megf8 G T 7: 25,034,022 (GRCm39) R607L probably benign Het
Mks1 A G 11: 87,747,665 (GRCm39) T183A probably benign Het
Mllt11 A G 3: 95,127,515 (GRCm39) V85A probably benign Het
Mpo A T 11: 87,692,581 (GRCm39) probably null Het
Muc4 A T 16: 32,575,515 (GRCm39) probably benign Het
Myoz3 T C 18: 60,712,104 (GRCm39) Y158C probably damaging Het
Or11g25 A T 14: 50,723,452 (GRCm39) D179V probably damaging Het
Or4k41 A G 2: 111,280,354 (GRCm39) R290G probably damaging Het
Or5ae1 A G 7: 84,565,391 (GRCm39) I135V possibly damaging Het
Polq T A 16: 36,881,380 (GRCm39) S902R probably damaging Het
Rarb T C 14: 16,548,545 (GRCm38) T93A probably damaging Het
Rgs12 A G 5: 35,123,696 (GRCm39) D493G probably benign Het
Sec31b T A 19: 44,511,583 (GRCm39) D606V probably damaging Het
Setd2 T C 9: 110,377,891 (GRCm39) F569L possibly damaging Het
Sil1 T C 18: 35,474,170 (GRCm39) E149G probably benign Het
Spata13 T G 14: 60,929,452 (GRCm39) S337A probably damaging Het
Srfbp1 T A 18: 52,622,018 (GRCm39) L360M probably damaging Het
Tecta A T 9: 42,250,222 (GRCm39) C1852S probably damaging Het
Tgfbr3l A G 8: 4,300,360 (GRCm39) T208A probably damaging Het
Tmem38b G C 4: 53,849,051 (GRCm39) probably null Het
Tnfrsf11a T A 1: 105,741,545 (GRCm39) probably null Het
Tnik T A 3: 28,666,120 (GRCm39) probably null Het
Tsc1 A T 2: 28,555,197 (GRCm39) probably benign Het
Zfp930 T C 8: 69,679,113 (GRCm39) V41A probably benign Het
Zscan18 A T 7: 12,508,383 (GRCm39) D372E 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
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'- TTGCAAACTTGGTTACCTAGTCACC -3'
(R):5'- TCGCCCAGAAGAGATGACTAC -3'

Sequencing Primer
(F):5'- AACTTGGTTACCTAGTCACCTATAG -3'
(R):5'- GAAGAGATGACTACTCTAAATTGACC -3'
Posted On 2017-01-03