Incidental Mutation 'R5134:Aox4'
ID |
395998 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aox4
|
Ensembl Gene |
ENSMUSG00000038242 |
Gene Name |
aldehyde oxidase 4 |
Synonyms |
AOH2, 2310003G12Rik |
MMRRC Submission |
042722-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5134 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
58249556-58307756 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 58275835 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 389
(D389V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048929
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040442]
|
AlphaFold |
Q3TYQ9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040442
AA Change: D389V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000048929 Gene: ENSMUSG00000038242 AA Change: D389V
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161926
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.5%
|
Validation Efficiency |
96% (100/104) |
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: 89 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adarb1 |
T |
A |
10: 77,161,679 (GRCm39) |
|
probably benign |
Het |
Adrb3 |
A |
C |
8: 27,717,798 (GRCm39) |
M217R |
probably damaging |
Het |
Ank2 |
A |
T |
3: 126,757,094 (GRCm39) |
N1054K |
possibly damaging |
Het |
Aph1a |
G |
T |
3: 95,802,843 (GRCm39) |
G148W |
probably damaging |
Het |
Arsj |
A |
G |
3: 126,231,803 (GRCm39) |
D183G |
probably benign |
Het |
Atg2b |
A |
G |
12: 105,641,209 (GRCm39) |
S76P |
probably damaging |
Het |
Atxn7l1 |
C |
A |
12: 33,422,875 (GRCm39) |
N815K |
probably damaging |
Het |
Cd3d |
A |
T |
9: 44,896,296 (GRCm39) |
E28D |
probably damaging |
Het |
Cir1 |
G |
A |
2: 73,114,847 (GRCm39) |
R404* |
probably null |
Het |
Cops8 |
A |
G |
1: 90,538,724 (GRCm39) |
D51G |
probably damaging |
Het |
Csgalnact1 |
T |
C |
8: 68,913,623 (GRCm39) |
E194G |
probably benign |
Het |
Cstf2t |
T |
A |
19: 31,061,494 (GRCm39) |
D343E |
probably damaging |
Het |
Ddx23 |
A |
T |
15: 98,548,651 (GRCm39) |
D352E |
possibly damaging |
Het |
Dhx34 |
G |
T |
7: 15,952,175 (GRCm39) |
A150D |
possibly damaging |
Het |
Dnal4 |
A |
T |
15: 79,647,766 (GRCm39) |
V32E |
possibly damaging |
Het |
Dvl3 |
G |
T |
16: 20,343,357 (GRCm39) |
|
probably benign |
Het |
Ehmt1 |
G |
T |
2: 24,767,509 (GRCm39) |
P135T |
probably damaging |
Het |
Enpp2 |
C |
T |
15: 54,762,726 (GRCm39) |
R174H |
probably damaging |
Het |
Eps15 |
G |
A |
4: 109,223,727 (GRCm39) |
|
probably benign |
Het |
F10 |
T |
C |
8: 13,105,698 (GRCm39) |
V421A |
probably damaging |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fer1l6 |
A |
T |
15: 58,512,003 (GRCm39) |
D1490V |
probably damaging |
Het |
Fsd1l |
A |
G |
4: 53,647,766 (GRCm39) |
K70E |
probably benign |
Het |
Galnt12 |
G |
A |
4: 47,113,818 (GRCm39) |
A79T |
probably damaging |
Het |
Galnt17 |
A |
T |
5: 130,992,873 (GRCm39) |
M347K |
probably damaging |
Het |
Glyatl3 |
A |
G |
17: 41,215,921 (GRCm39) |
V195A |
probably benign |
Het |
Gm10770 |
A |
T |
2: 150,021,480 (GRCm39) |
|
probably null |
Het |
Gm5578 |
A |
T |
6: 112,583,046 (GRCm39) |
|
noncoding transcript |
Het |
Grn |
C |
A |
11: 102,321,380 (GRCm39) |
|
probably benign |
Het |
Gsk3b |
G |
A |
16: 38,060,882 (GRCm39) |
R418H |
probably damaging |
Het |
Hspa12b |
A |
G |
2: 130,981,428 (GRCm39) |
E221G |
possibly damaging |
Het |
Ighv1-50 |
T |
G |
12: 115,083,653 (GRCm39) |
Q22H |
probably benign |
Het |
Ipcef1 |
A |
G |
10: 6,869,950 (GRCm39) |
I150T |
probably benign |
Het |
Ipp |
T |
A |
4: 116,372,654 (GRCm39) |
F228I |
possibly damaging |
Het |
Itgb7 |
A |
G |
15: 102,125,842 (GRCm39) |
C596R |
probably damaging |
Het |
Kif27 |
T |
C |
13: 58,438,904 (GRCm39) |
D1219G |
possibly damaging |
Het |
Lats1 |
T |
A |
10: 7,567,575 (GRCm39) |
D115E |
probably benign |
Het |
Lpcat3 |
A |
G |
6: 124,679,493 (GRCm39) |
N331S |
probably benign |
Het |
Lrpprc |
A |
T |
17: 85,058,684 (GRCm39) |
N725K |
probably benign |
Het |
Lss |
T |
G |
10: 76,382,070 (GRCm39) |
|
probably benign |
Het |
Mfsd6 |
T |
C |
1: 52,747,515 (GRCm39) |
Y450C |
possibly damaging |
Het |
Mmp21 |
A |
T |
7: 133,280,742 (GRCm39) |
V76E |
probably benign |
Het |
Mtmr11 |
A |
T |
3: 96,077,223 (GRCm39) |
Y527F |
probably damaging |
Het |
Nat10 |
A |
T |
2: 103,573,638 (GRCm39) |
F327I |
probably benign |
Het |
Nfkbiz |
A |
T |
16: 55,638,863 (GRCm39) |
M199K |
probably damaging |
Het |
Nuak1 |
A |
G |
10: 84,210,214 (GRCm39) |
Y625H |
probably benign |
Het |
Odf1 |
A |
G |
15: 38,226,393 (GRCm39) |
T98A |
possibly damaging |
Het |
Oprl1 |
T |
A |
2: 181,360,403 (GRCm39) |
I153N |
probably damaging |
Het |
Or10g3b |
T |
C |
14: 52,587,248 (GRCm39) |
N85S |
probably benign |
Het |
Or1j4 |
A |
T |
2: 36,740,488 (GRCm39) |
L143F |
probably benign |
Het |
Or4x13 |
T |
A |
2: 90,231,107 (GRCm39) |
M34K |
probably benign |
Het |
Osbpl8 |
T |
A |
10: 111,124,554 (GRCm39) |
D705E |
probably benign |
Het |
Otud4 |
G |
A |
8: 80,382,318 (GRCm39) |
V176I |
probably damaging |
Het |
Paics |
T |
C |
5: 77,104,669 (GRCm39) |
|
probably benign |
Het |
Pax5 |
A |
G |
4: 44,710,407 (GRCm39) |
M1T |
probably null |
Het |
Pck1 |
A |
T |
2: 172,995,282 (GRCm39) |
N34I |
probably benign |
Het |
Pde8b |
T |
C |
13: 95,223,250 (GRCm39) |
I335V |
probably benign |
Het |
Piezo2 |
A |
G |
18: 63,207,691 (GRCm39) |
V1440A |
probably damaging |
Het |
Prr23a4 |
T |
C |
9: 98,785,793 (GRCm39) |
S153P |
probably benign |
Het |
Ptpre |
T |
A |
7: 135,253,821 (GRCm39) |
F83Y |
probably damaging |
Het |
Pwwp3a |
T |
C |
10: 80,068,702 (GRCm39) |
L282P |
probably benign |
Het |
Rassf6 |
T |
A |
5: 90,752,225 (GRCm39) |
|
probably null |
Het |
Rilp |
A |
T |
11: 75,403,534 (GRCm39) |
L325F |
probably damaging |
Het |
Rpf1 |
A |
G |
3: 146,212,293 (GRCm39) |
L349S |
probably damaging |
Het |
Rprd2 |
G |
C |
3: 95,672,632 (GRCm39) |
R924G |
probably benign |
Het |
Rps6kc1 |
T |
A |
1: 190,505,845 (GRCm39) |
D1039V |
probably damaging |
Het |
Rufy3 |
G |
A |
5: 88,793,426 (GRCm39) |
V579I |
probably benign |
Het |
Serpinc1 |
A |
G |
1: 160,825,140 (GRCm39) |
|
probably null |
Het |
Siae |
T |
G |
9: 37,557,816 (GRCm39) |
I541S |
possibly damaging |
Het |
St14 |
T |
G |
9: 31,006,879 (GRCm39) |
D649A |
probably benign |
Het |
Stab2 |
A |
G |
10: 86,707,674 (GRCm39) |
|
probably null |
Het |
Sun3 |
T |
C |
11: 8,988,287 (GRCm39) |
T12A |
probably benign |
Het |
Tdrd6 |
A |
G |
17: 43,937,101 (GRCm39) |
Y1316H |
probably damaging |
Het |
Thbs3 |
CAGAAG |
CAG |
3: 89,130,409 (GRCm39) |
|
probably benign |
Het |
Tmem161b |
C |
A |
13: 84,442,887 (GRCm39) |
T269K |
possibly damaging |
Het |
Trav14-3 |
T |
A |
14: 54,000,701 (GRCm39) |
S17T |
unknown |
Het |
Trmu |
T |
A |
15: 85,780,556 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
A |
2: 76,537,586 (GRCm39) |
T26454S |
possibly damaging |
Het |
Ubr3 |
T |
C |
2: 69,850,790 (GRCm39) |
|
probably benign |
Het |
Unc5b |
A |
T |
10: 60,610,879 (GRCm39) |
V376E |
probably benign |
Het |
Usp3 |
T |
C |
9: 66,449,814 (GRCm39) |
S166G |
possibly damaging |
Het |
Vldlr |
C |
A |
19: 27,216,212 (GRCm39) |
C344* |
probably null |
Het |
Vmn1r17 |
A |
G |
6: 57,337,828 (GRCm39) |
V130A |
probably benign |
Het |
Wdfy3 |
A |
C |
5: 102,091,969 (GRCm39) |
Y457D |
probably damaging |
Het |
Zbtb2 |
T |
C |
10: 4,319,267 (GRCm39) |
Y253C |
possibly damaging |
Het |
Zfp687 |
A |
C |
3: 94,917,697 (GRCm39) |
F692V |
probably damaging |
Het |
Zfp758 |
A |
G |
17: 22,594,386 (GRCm39) |
K291E |
probably damaging |
Het |
Zfp799 |
A |
T |
17: 33,039,415 (GRCm39) |
C284S |
probably damaging |
Het |
Zp1 |
C |
A |
19: 10,897,926 (GRCm39) |
C5F |
probably benign |
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 |
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 |
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'- TGTCTTTCTGAAGCCTGGGC -3'
(R):5'- AATGGCCATCTGGGAACTG -3'
Sequencing Primer
(F):5'- TGGGCCCCAAAGTTTCCATG -3'
(R):5'- ACTGTGAGTGGCCCTAAACTC -3'
|
Posted On |
2016-06-21 |