Incidental Mutation 'R9493:Aox4'
ID 717036
Institutional Source Beutler Lab
Gene Symbol Aox4
Ensembl Gene ENSMUSG00000038242
Gene Name aldehyde oxidase 4
Synonyms AOH2, 2310003G12Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9493 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 58249556-58307756 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58286434 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 689 (K689E)
Ref Sequence ENSEMBL: ENSMUSP00000048929 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040442]
AlphaFold Q3TYQ9
Predicted Effect probably benign
Transcript: ENSMUST00000040442
AA Change: K689E

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000048929
Gene: ENSMUSG00000038242
AA Change: K689E

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: 99.6%
  • 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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 A G 11: 48,838,191 (GRCm39) Y799H probably damaging Het
Akap5 G A 12: 76,375,041 (GRCm39) A158T probably damaging Het
Arid1b G A 17: 5,046,423 (GRCm39) A404T unknown Het
Bltp1 A G 3: 37,065,885 (GRCm39) N53S Het
Camk2b T A 11: 5,929,711 (GRCm39) D396V probably damaging Het
Cd53 T A 3: 106,674,683 (GRCm39) D128V probably null Het
Cdk15 G T 1: 59,326,943 (GRCm39) R208L probably damaging Het
Celsr1 T G 15: 85,785,346 (GRCm39) K2963Q probably damaging Het
Celsr2 A G 3: 108,301,074 (GRCm39) S2740P probably damaging Het
Clca4b A T 3: 144,632,964 (GRCm39) L162H probably damaging Het
Cntn1 A T 15: 92,189,644 (GRCm39) T656S probably damaging Het
Creb3l1 C T 2: 91,822,231 (GRCm39) probably null Het
Dpy19l2 A G 9: 24,530,459 (GRCm39) Y507H probably damaging Het
Dsc3 A T 18: 20,122,752 (GRCm39) C57* probably null Het
Gramd1b A G 9: 40,217,689 (GRCm39) Y621H probably damaging Het
Ifi207 A T 1: 173,556,522 (GRCm39) C739S probably benign Het
Il1rap T C 16: 26,541,702 (GRCm39) S648P probably benign Het
Ints5 C T 19: 8,872,686 (GRCm39) T215I probably damaging Het
Itm2c T C 1: 85,834,255 (GRCm39) probably null Het
Lmo7 T A 14: 102,137,907 (GRCm39) S870T probably benign Het
Lrpprc A T 17: 85,015,548 (GRCm39) F1288I probably damaging Het
Megf11 A T 9: 64,547,376 (GRCm39) H209L probably damaging Het
Mtss1 C T 15: 58,926,869 (GRCm39) R69H probably damaging Het
Nms A T 1: 38,980,982 (GRCm39) H56L probably benign Het
Or4f54 G A 2: 111,122,736 (GRCm39) G41D probably damaging Het
Or4k36 C T 2: 111,146,288 (GRCm39) H155Y probably damaging Het
Or56a5 A T 7: 104,793,497 (GRCm39) M7K possibly damaging Het
Or5t17 T C 2: 86,833,140 (GRCm39) S276P probably benign Het
Pds5a G A 5: 65,792,747 (GRCm39) R729W probably damaging Het
Pskh1 C T 8: 106,639,598 (GRCm39) R93* probably null Het
Rapgef2 G A 3: 79,019,495 (GRCm39) L59F probably damaging Het
Rtn4 G A 11: 29,691,011 (GRCm39) V1101I probably damaging Het
Sec31b C A 19: 44,509,021 (GRCm39) V653F probably damaging Het
Slc10a2 A G 8: 5,139,047 (GRCm39) V299A Het
Slc6a15 A G 10: 103,229,277 (GRCm39) I105M probably benign Het
Smurf1 A G 5: 144,833,395 (GRCm39) V209A Het
Snapc2 A G 8: 4,304,591 (GRCm39) E115G probably damaging Het
Sorcs2 T C 5: 36,199,529 (GRCm39) E592G possibly damaging Het
Spmip6 G A 4: 41,508,614 (GRCm39) P17L Het
Styxl2 T A 1: 165,926,410 (GRCm39) K1067N probably damaging Het
Tcl1b1 A T 12: 105,130,823 (GRCm39) Q102L probably damaging Het
Tmc1 T A 19: 20,801,644 (GRCm39) N461Y probably benign Het
Trim59 C A 3: 68,945,134 (GRCm39) G69C probably damaging Het
Tubg1 A G 11: 101,017,003 (GRCm39) Y435C probably damaging Het
Ucp3 A C 7: 100,131,911 (GRCm39) H254P probably benign Het
Vav2 T C 2: 27,157,276 (GRCm39) D842G probably damaging Het
Vmn1r203 T A 13: 22,708,423 (GRCm39) L68H probably damaging Het
Wee2 A G 6: 40,421,057 (GRCm39) E49G probably benign Het
Zfr A G 15: 12,180,706 (GRCm39) probably null 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
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
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'- CTGGTCATCAAAGCATCAGTGAG -3'
(R):5'- CACATGTAACACTGGCTAAAGC -3'

Sequencing Primer
(F):5'- TCATGTGATGCTAACCCAGG -3'
(R):5'- GTAACACTGGCTAAAGCATAGTTG -3'
Posted On 2022-07-18