Incidental Mutation 'R0138:Aox4'
| ID |
22080 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aox4
|
| Ensembl Gene |
ENSMUSG00000038242 |
| Gene Name |
aldehyde oxidase 4 |
| Synonyms |
AOH2, 2310003G12Rik |
| MMRRC Submission |
038423-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0138 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
1 |
| Chromosomal Location |
58249556-58307756 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 58268025 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Valine
at position 202
(L202V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048929
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040442]
|
| AlphaFold |
Q3TYQ9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040442
AA Change: L202V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000048929
Gene: ENSMUSG00000038242
AA Change: L202V
| Domain | Start | End | E-Value | Type |
|---|
|
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
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 92.8%
|
| Validation Efficiency |
97% (76/78) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
A |
3: 121,899,098 (GRCm39) |
N693K |
probably damaging |
Het |
| Adgrl3 |
T |
A |
5: 81,841,454 (GRCm39) |
V845D |
probably damaging |
Het |
| Anxa8 |
T |
A |
14: 33,819,896 (GRCm39) |
F269Y |
probably benign |
Het |
| Anxa8 |
T |
A |
14: 33,819,897 (GRCm39) |
F295L |
possibly damaging |
Het |
| Ap3s2 |
A |
G |
7: 79,559,617 (GRCm39) |
V104A |
probably benign |
Het |
| Aqp3 |
G |
A |
4: 41,094,843 (GRCm39) |
|
probably benign |
Het |
| Arhgef26 |
C |
T |
3: 62,355,680 (GRCm39) |
H751Y |
probably benign |
Het |
| Asic4 |
A |
T |
1: 75,446,331 (GRCm39) |
Q291L |
possibly damaging |
Het |
| Bap1 |
T |
C |
14: 30,978,681 (GRCm39) |
Y31H |
probably damaging |
Het |
| Brf1 |
A |
T |
12: 112,924,759 (GRCm39) |
V655D |
probably damaging |
Het |
| Cebpz |
A |
G |
17: 79,238,820 (GRCm39) |
S663P |
probably benign |
Het |
| Ces2h |
A |
G |
8: 105,744,693 (GRCm39) |
D357G |
probably benign |
Het |
| Cfap36 |
T |
C |
11: 29,194,073 (GRCm39) |
T90A |
probably benign |
Het |
| Ciita |
A |
T |
16: 10,330,134 (GRCm39) |
D803V |
probably damaging |
Het |
| Clnk |
C |
A |
5: 38,931,951 (GRCm39) |
|
probably benign |
Het |
| Cyp46a1 |
A |
G |
12: 108,317,470 (GRCm39) |
N158S |
probably damaging |
Het |
| Cyp4f13 |
A |
G |
17: 33,160,080 (GRCm39) |
I98T |
possibly damaging |
Het |
| Def8 |
G |
A |
8: 124,183,234 (GRCm39) |
A278T |
probably damaging |
Het |
| Dll3 |
T |
A |
7: 28,000,746 (GRCm39) |
D103V |
possibly damaging |
Het |
| Dnai1 |
T |
A |
4: 41,629,814 (GRCm39) |
M446K |
possibly damaging |
Het |
| Dppa4 |
A |
T |
16: 48,111,425 (GRCm39) |
T85S |
probably benign |
Het |
| Eif4g1 |
A |
T |
16: 20,494,095 (GRCm39) |
H57L |
probably damaging |
Het |
| Fmnl3 |
G |
C |
15: 99,220,619 (GRCm39) |
|
probably benign |
Het |
| Fn1 |
T |
A |
1: 71,663,269 (GRCm39) |
Q1073L |
possibly damaging |
Het |
| Foxp4 |
T |
C |
17: 48,180,104 (GRCm39) |
D599G |
unknown |
Het |
| Frrs1 |
T |
C |
3: 116,675,456 (GRCm39) |
V128A |
possibly damaging |
Het |
| Gcfc2 |
G |
A |
6: 81,926,935 (GRCm39) |
D608N |
probably damaging |
Het |
| Gm1043 |
T |
C |
5: 37,350,317 (GRCm39) |
|
probably benign |
Het |
| Gm5148 |
T |
C |
3: 37,768,926 (GRCm39) |
E98G |
probably benign |
Het |
| Gpr141 |
T |
C |
13: 19,936,428 (GRCm39) |
I116V |
probably benign |
Het |
| Hic1 |
T |
C |
11: 75,058,169 (GRCm39) |
N240S |
probably damaging |
Het |
| Hpx |
G |
A |
7: 105,241,445 (GRCm39) |
T322I |
probably damaging |
Het |
| Hs3st4 |
A |
T |
7: 123,996,416 (GRCm39) |
M361L |
probably benign |
Het |
| Ifrd1 |
A |
G |
12: 40,257,129 (GRCm39) |
|
probably benign |
Het |
| Ino80 |
G |
A |
2: 119,213,441 (GRCm39) |
R1249C |
probably damaging |
Het |
| Klk1b21 |
T |
A |
7: 43,755,319 (GRCm39) |
C173S |
probably damaging |
Het |
| Krt25 |
A |
T |
11: 99,213,524 (GRCm39) |
V65E |
probably benign |
Het |
| Lrrc15 |
A |
T |
16: 30,092,267 (GRCm39) |
D357E |
possibly damaging |
Het |
| Lrrd1 |
T |
A |
5: 3,901,345 (GRCm39) |
V550E |
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,334,540 (GRCm39) |
Y1490H |
probably damaging |
Het |
| Macrod1 |
A |
G |
19: 7,174,281 (GRCm39) |
|
probably benign |
Het |
| Mcm5 |
T |
A |
8: 75,847,508 (GRCm39) |
V435D |
probably damaging |
Het |
| Mctp1 |
C |
T |
13: 76,975,831 (GRCm39) |
R478C |
probably damaging |
Het |
| Med10 |
T |
C |
13: 69,959,817 (GRCm39) |
|
probably benign |
Het |
| Mrpl4 |
T |
C |
9: 20,919,888 (GRCm39) |
Y280H |
probably benign |
Het |
| Msrb3 |
T |
C |
10: 120,687,892 (GRCm39) |
E61G |
probably damaging |
Het |
| Myo1c |
T |
C |
11: 75,551,827 (GRCm39) |
Y337H |
possibly damaging |
Het |
| Myo7b |
T |
A |
18: 32,143,204 (GRCm39) |
T165S |
probably damaging |
Het |
| Myrfl |
T |
A |
10: 116,685,138 (GRCm39) |
R81W |
probably damaging |
Het |
| Neil1 |
T |
C |
9: 57,051,030 (GRCm39) |
|
probably benign |
Het |
| Neto2 |
A |
G |
8: 86,367,673 (GRCm39) |
I357T |
possibly damaging |
Het |
| Nfat5 |
C |
T |
8: 108,065,707 (GRCm39) |
R156W |
probably damaging |
Het |
| Nkx6-3 |
T |
C |
8: 23,643,607 (GRCm39) |
S3P |
probably benign |
Het |
| Or52h7 |
A |
T |
7: 104,214,210 (GRCm39) |
I261L |
probably benign |
Het |
| Plce1 |
T |
C |
19: 38,512,863 (GRCm39) |
I54T |
possibly damaging |
Het |
| Prex2 |
A |
T |
1: 11,355,267 (GRCm39) |
|
probably benign |
Het |
| Psapl1 |
T |
A |
5: 36,361,975 (GRCm39) |
V189E |
probably damaging |
Het |
| Ptdss2 |
T |
G |
7: 140,735,232 (GRCm39) |
|
probably benign |
Het |
| Rnf213 |
T |
C |
11: 119,307,322 (GRCm39) |
C661R |
probably benign |
Het |
| Rpap1 |
T |
C |
2: 119,595,380 (GRCm39) |
|
probably null |
Het |
| Rrp1b |
A |
G |
17: 32,279,426 (GRCm39) |
T696A |
probably benign |
Het |
| Sacm1l |
T |
A |
9: 123,377,982 (GRCm39) |
H87Q |
probably benign |
Het |
| Serpinb11 |
T |
A |
1: 107,305,260 (GRCm39) |
M212K |
probably damaging |
Het |
| Tbc1d22a |
C |
A |
15: 86,183,885 (GRCm39) |
T248K |
probably damaging |
Het |
| Tcerg1 |
C |
T |
18: 42,701,679 (GRCm39) |
|
probably benign |
Het |
| Tpst1 |
T |
A |
5: 130,130,627 (GRCm39) |
H32Q |
probably damaging |
Het |
| Tsc2 |
A |
T |
17: 24,818,600 (GRCm39) |
V1412E |
possibly damaging |
Het |
| Usp19 |
C |
A |
9: 108,378,514 (GRCm39) |
P1326Q |
possibly damaging |
Het |
| Vmn1r235 |
T |
A |
17: 21,482,596 (GRCm39) |
M307K |
probably damaging |
Het |
| Vmn2r58 |
T |
A |
7: 41,487,048 (GRCm39) |
T616S |
probably damaging |
Het |
| Vps13a |
G |
A |
19: 16,637,863 (GRCm39) |
T2406I |
possibly damaging |
Het |
| Zbtb26 |
T |
A |
2: 37,326,053 (GRCm39) |
M328L |
probably benign |
Het |
| Zp2 |
A |
G |
7: 119,736,423 (GRCm39) |
F340S |
probably damaging |
Het |
|
| Other mutations in Aox4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
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'- GTACCCACAGTAATACTGGCGAGC -3'
(R):5'- GCCCTTTAAGATACCCAGGAGCAC -3'
Sequencing Primer
(F):5'- CCAGTGCAGAAGGCAAATG -3'
(R):5'- TGCCAGGATTCAGCCCAAG -3'
|
| Posted On |
2013-04-12 |
Incidental Mutation