Incidental Mutation 'R7082:Aox4'
ID |
549568 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aox4
|
Ensembl Gene |
ENSMUSG00000038242 |
Gene Name |
aldehyde oxidase 4 |
Synonyms |
AOH2, 2310003G12Rik |
MMRRC Submission |
045176-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7082 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
58249556-58307756 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 58263352 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 158
(R158L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048929
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040442]
|
AlphaFold |
Q3TYQ9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040442
AA Change: R158L
PolyPhen 2
Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000048929 Gene: ENSMUSG00000038242 AA Change: R158L
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
100% (88/88) |
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 |
5730596B20Rik |
A |
T |
6: 52,156,260 (GRCm39) |
N109Y |
unknown |
Het |
A430005L14Rik |
C |
T |
4: 154,044,221 (GRCm39) |
R11W |
probably damaging |
Het |
Aadacl2 |
T |
A |
3: 59,932,306 (GRCm39) |
S274T |
probably damaging |
Het |
Ahctf1 |
T |
C |
1: 179,602,898 (GRCm39) |
R887G |
probably benign |
Het |
Atp10a |
T |
C |
7: 58,308,567 (GRCm39) |
I122T |
probably damaging |
Het |
Batf2 |
G |
T |
19: 6,221,405 (GRCm39) |
A72S |
possibly damaging |
Het |
Bltp3a |
G |
T |
17: 28,109,039 (GRCm39) |
R1086L |
probably damaging |
Het |
Bptf |
T |
C |
11: 106,977,573 (GRCm39) |
D749G |
probably benign |
Het |
Cacybp |
A |
G |
1: 160,031,229 (GRCm39) |
Y200H |
probably damaging |
Het |
Cdc40 |
A |
T |
10: 40,743,869 (GRCm39) |
V76D |
probably benign |
Het |
Cdc42ep4 |
T |
C |
11: 113,619,944 (GRCm39) |
D149G |
probably benign |
Het |
Chtop |
A |
G |
3: 90,414,891 (GRCm39) |
V9A |
probably benign |
Het |
Cnot9 |
A |
G |
1: 74,566,165 (GRCm39) |
I185M |
probably damaging |
Het |
Col6a5 |
A |
G |
9: 105,808,438 (GRCm39) |
I870T |
unknown |
Het |
Cr1l |
A |
G |
1: 194,806,006 (GRCm39) |
I159T |
probably benign |
Het |
Cthrc1 |
T |
C |
15: 38,940,495 (GRCm39) |
S33P |
probably benign |
Het |
Dlg2 |
T |
A |
7: 90,381,192 (GRCm39) |
W44R |
probably benign |
Het |
Dlgap4 |
T |
C |
2: 156,590,342 (GRCm39) |
|
probably null |
Het |
Dna2 |
A |
G |
10: 62,790,096 (GRCm39) |
H193R |
possibly damaging |
Het |
Espnl |
T |
A |
1: 91,262,521 (GRCm39) |
F322Y |
probably benign |
Het |
Fam171a1 |
G |
A |
2: 3,224,512 (GRCm39) |
V293I |
probably benign |
Het |
Fam76b |
A |
G |
9: 13,744,308 (GRCm39) |
Y135C |
probably damaging |
Het |
Flvcr2 |
A |
T |
12: 85,793,728 (GRCm39) |
I35F |
probably benign |
Het |
Gm9195 |
T |
A |
14: 72,680,152 (GRCm39) |
Q2219L |
probably benign |
Het |
Gnptg |
T |
C |
17: 25,453,694 (GRCm39) |
T283A |
probably benign |
Het |
Grap2 |
G |
A |
15: 80,532,699 (GRCm39) |
V289M |
probably benign |
Het |
Hk3 |
T |
C |
13: 55,154,710 (GRCm39) |
T767A |
probably benign |
Het |
Hs3st5 |
A |
G |
10: 36,708,833 (GRCm39) |
I123V |
probably benign |
Het |
Il6st |
A |
G |
13: 112,640,566 (GRCm39) |
T781A |
probably damaging |
Het |
Inpp5d |
T |
A |
1: 87,623,102 (GRCm39) |
H398Q |
probably damaging |
Het |
Kcnk1 |
A |
G |
8: 126,722,287 (GRCm39) |
Y30C |
probably damaging |
Het |
Klhl6 |
T |
C |
16: 19,801,633 (GRCm39) |
T41A |
probably benign |
Het |
Krt14 |
G |
A |
11: 100,094,167 (GRCm39) |
H476Y |
possibly damaging |
Het |
Lingo3 |
G |
C |
10: 80,671,625 (GRCm39) |
R102G |
probably benign |
Het |
Map3k9 |
G |
A |
12: 81,771,476 (GRCm39) |
T704M |
probably damaging |
Het |
Mdn1 |
C |
A |
4: 32,762,341 (GRCm39) |
N5088K |
probably benign |
Het |
Mmp9 |
T |
A |
2: 164,790,812 (GRCm39) |
S67T |
probably benign |
Het |
Mrps18c |
A |
G |
5: 100,952,270 (GRCm39) |
E143G |
probably damaging |
Het |
Msantd5f9 |
G |
T |
4: 73,835,808 (GRCm39) |
L219M |
probably benign |
Het |
Muc21 |
A |
T |
17: 35,932,093 (GRCm39) |
S698T |
unknown |
Het |
Nags |
C |
A |
11: 102,038,298 (GRCm39) |
R335S |
possibly damaging |
Het |
Nars1 |
A |
G |
18: 64,637,425 (GRCm39) |
V385A |
possibly damaging |
Het |
Nipal2 |
A |
C |
15: 34,584,809 (GRCm39) |
V253G |
possibly damaging |
Het |
Nos2 |
C |
A |
11: 78,819,405 (GRCm39) |
T39K |
probably benign |
Het |
Or10p1 |
T |
A |
10: 129,443,416 (GRCm39) |
*311Y |
probably null |
Het |
Or10p1 |
T |
A |
10: 129,443,417 (GRCm39) |
*311L |
probably null |
Het |
Or51t4 |
T |
C |
7: 102,598,455 (GRCm39) |
V261A |
probably damaging |
Het |
Or52s19 |
C |
A |
7: 103,007,495 (GRCm39) |
R302L |
possibly damaging |
Het |
Or6c66 |
C |
T |
10: 129,461,634 (GRCm39) |
V99M |
probably benign |
Het |
Or9s15 |
G |
A |
1: 92,524,140 (GRCm39) |
|
probably benign |
Het |
Panx3 |
G |
A |
9: 37,577,913 (GRCm39) |
P106S |
probably benign |
Het |
Pappa2 |
G |
A |
1: 158,590,689 (GRCm39) |
T1655I |
possibly damaging |
Het |
Pcdhb1 |
A |
G |
18: 37,400,044 (GRCm39) |
D665G |
probably damaging |
Het |
Pde2a |
T |
C |
7: 101,157,303 (GRCm39) |
L676P |
probably damaging |
Het |
Pf4 |
A |
G |
5: 90,920,851 (GRCm39) |
T60A |
possibly damaging |
Het |
Pira12 |
C |
T |
7: 3,898,510 (GRCm39) |
V313M |
probably damaging |
Het |
Pld5 |
A |
T |
1: 175,917,442 (GRCm39) |
C164S |
probably benign |
Het |
Psd3 |
A |
T |
8: 68,356,800 (GRCm39) |
M640K |
probably benign |
Het |
Ptf1a |
A |
G |
2: 19,450,676 (GRCm39) |
D2G |
possibly damaging |
Het |
Ptprq |
C |
T |
10: 107,544,591 (GRCm39) |
C313Y |
probably benign |
Het |
Ranbp10 |
A |
G |
8: 106,500,578 (GRCm39) |
S467P |
probably damaging |
Het |
Rap1gap |
C |
T |
4: 137,446,247 (GRCm39) |
T333M |
probably damaging |
Het |
Rfpl4 |
A |
G |
7: 5,118,558 (GRCm39) |
L4P |
probably benign |
Het |
Rgs12 |
A |
G |
5: 35,124,050 (GRCm39) |
N611S |
probably benign |
Het |
Sacs |
C |
A |
14: 61,447,966 (GRCm39) |
N3337K |
possibly damaging |
Het |
Sbno2 |
A |
T |
10: 79,895,924 (GRCm39) |
|
probably null |
Het |
Scrn2 |
T |
A |
11: 96,923,908 (GRCm39) |
V264E |
possibly damaging |
Het |
Serpinb9c |
T |
A |
13: 33,338,390 (GRCm39) |
I198L |
probably benign |
Het |
Shank2 |
T |
C |
7: 143,964,096 (GRCm39) |
F568S |
probably damaging |
Het |
Slc47a1 |
C |
T |
11: 61,268,767 (GRCm39) |
R36Q |
probably benign |
Het |
Slc4a8 |
A |
C |
15: 100,688,908 (GRCm39) |
E406A |
probably damaging |
Het |
Speg |
C |
T |
1: 75,388,091 (GRCm39) |
T1483I |
probably damaging |
Het |
Srbd1 |
A |
G |
17: 86,365,160 (GRCm39) |
V632A |
probably damaging |
Het |
Srd5a2 |
A |
T |
17: 74,328,515 (GRCm39) |
Y188N |
probably damaging |
Het |
Sspo |
A |
T |
6: 48,455,543 (GRCm39) |
|
probably null |
Het |
Ssx2ip |
A |
T |
3: 146,136,703 (GRCm39) |
D317V |
probably benign |
Het |
Tmco3 |
G |
T |
8: 13,370,847 (GRCm39) |
E172* |
probably null |
Het |
Trpc4 |
G |
A |
3: 54,206,519 (GRCm39) |
W573* |
probably null |
Het |
Ttn |
T |
C |
2: 76,580,340 (GRCm39) |
I23518V |
probably benign |
Het |
Tubal3 |
A |
G |
13: 3,983,050 (GRCm39) |
T277A |
possibly damaging |
Het |
Unc5b |
A |
T |
10: 60,610,867 (GRCm39) |
L391H |
probably damaging |
Het |
Vmn2r76 |
A |
G |
7: 85,874,440 (GRCm39) |
F846L |
probably benign |
Het |
Vps13c |
T |
A |
9: 67,790,735 (GRCm39) |
Y338N |
probably damaging |
Het |
Zc3hav1 |
G |
T |
6: 38,309,328 (GRCm39) |
S498* |
probably null |
Het |
Zfand4 |
T |
A |
6: 116,305,337 (GRCm39) |
|
probably null |
Het |
Zfp451 |
A |
T |
1: 33,811,972 (GRCm39) |
|
probably null |
Het |
Zfp607a |
A |
T |
7: 27,578,183 (GRCm39) |
I418F |
probably damaging |
Het |
Zfp612 |
A |
G |
8: 110,816,337 (GRCm39) |
T515A |
probably damaging |
Het |
Zfp708 |
G |
T |
13: 67,219,200 (GRCm39) |
L208I |
possibly 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 |
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 |
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'- GAAGGTTTCTCTACTGTTTCAAGGG -3'
(R):5'- GCACGGAGTTCTTTTAGAGATCG -3'
Sequencing Primer
(F):5'- GCATCTTGCTGAGTTTCAG -3'
(R):5'- TTTAGAGATCGTGACTAAAACAGGC -3'
|
Posted On |
2019-05-15 |