Incidental Mutation 'R7371:Aox4'
ID |
572045 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aox4
|
Ensembl Gene |
ENSMUSG00000038242 |
Gene Name |
aldehyde oxidase 4 |
Synonyms |
AOH2, 2310003G12Rik |
MMRRC Submission |
045454-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7371 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
58249556-58307756 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 58303013 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 1148
(D1148G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048929
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040442]
|
AlphaFold |
Q3TYQ9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000040442
AA Change: D1148G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000048929 Gene: ENSMUSG00000038242 AA Change: D1148G
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: 99.3%
|
Validation Efficiency |
98% (88/90) |
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 |
Adam21 |
A |
C |
12: 81,607,064 (GRCm39) |
S233A |
probably damaging |
Het |
Adcy8 |
T |
A |
15: 64,571,067 (GRCm39) |
H1222L |
probably benign |
Het |
Aftph |
T |
C |
11: 20,676,836 (GRCm39) |
T258A |
probably benign |
Het |
Ano3 |
A |
C |
2: 110,715,194 (GRCm39) |
|
probably null |
Het |
Bcl11b |
A |
T |
12: 107,955,750 (GRCm39) |
I133N |
probably damaging |
Het |
Borcs7 |
T |
A |
19: 46,688,057 (GRCm39) |
D67E |
probably damaging |
Het |
Cacna2d4 |
T |
A |
6: 119,285,670 (GRCm39) |
I774N |
probably benign |
Het |
Catsperd |
A |
T |
17: 56,957,801 (GRCm39) |
Y236F |
probably benign |
Het |
Cblc |
T |
C |
7: 19,526,828 (GRCm39) |
S135G |
probably benign |
Het |
Ccdc168 |
C |
A |
1: 44,100,537 (GRCm39) |
R187L |
probably benign |
Het |
Ccdc178 |
A |
G |
18: 22,263,195 (GRCm39) |
V138A |
probably benign |
Het |
Cd300ld |
C |
T |
11: 114,878,186 (GRCm39) |
G109R |
probably damaging |
Het |
Cdh3 |
T |
A |
8: 107,279,109 (GRCm39) |
N690K |
probably damaging |
Het |
Ceacam1 |
T |
A |
7: 25,174,145 (GRCm39) |
Y170F |
possibly damaging |
Het |
Ceacam9 |
A |
C |
7: 16,457,652 (GRCm39) |
H55P |
possibly damaging |
Het |
Celsr1 |
C |
T |
15: 85,914,875 (GRCm39) |
V1033I |
possibly damaging |
Het |
Cep97 |
T |
C |
16: 55,725,683 (GRCm39) |
S807G |
probably benign |
Het |
Ces1b |
A |
G |
8: 93,783,982 (GRCm39) |
|
probably null |
Het |
Chn1 |
T |
C |
2: 73,510,234 (GRCm39) |
T92A |
probably damaging |
Het |
Cimap1b |
C |
A |
15: 89,263,365 (GRCm39) |
W6L |
probably damaging |
Het |
Cngb3 |
A |
C |
4: 19,425,575 (GRCm39) |
Y461S |
possibly damaging |
Het |
Col24a1 |
A |
G |
3: 145,049,459 (GRCm39) |
N629S |
probably benign |
Het |
Cpd |
T |
C |
11: 76,737,437 (GRCm39) |
D119G |
probably benign |
Het |
Cpsf1 |
T |
C |
15: 76,484,775 (GRCm39) |
D594G |
probably damaging |
Het |
Cpsf7 |
C |
T |
19: 10,509,203 (GRCm39) |
A38V |
probably benign |
Het |
Cry1 |
A |
T |
10: 84,983,783 (GRCm39) |
H224Q |
probably benign |
Het |
Ctr9 |
T |
A |
7: 110,633,014 (GRCm39) |
D87E |
probably damaging |
Het |
Cyp2u1 |
T |
A |
3: 131,087,144 (GRCm39) |
N479I |
probably benign |
Het |
Dip2c |
A |
G |
13: 9,642,785 (GRCm39) |
N672D |
probably benign |
Het |
Dnah14 |
T |
C |
1: 181,454,450 (GRCm39) |
V820A |
probably benign |
Het |
Efnb2 |
T |
C |
8: 8,710,524 (GRCm39) |
I31V |
probably benign |
Het |
Fgb |
T |
C |
3: 82,953,359 (GRCm39) |
Y137C |
probably damaging |
Het |
Fkbp15 |
A |
G |
4: 62,239,293 (GRCm39) |
V604A |
possibly damaging |
Het |
Flii |
A |
T |
11: 60,609,090 (GRCm39) |
N682K |
probably benign |
Het |
Fmo3 |
A |
G |
1: 162,781,796 (GRCm39) |
L519P |
possibly damaging |
Het |
Gapvd1 |
T |
A |
2: 34,607,385 (GRCm39) |
M538L |
probably benign |
Het |
Gbp11 |
A |
G |
5: 105,489,971 (GRCm39) |
V69A |
probably benign |
Het |
Ggn |
T |
A |
7: 28,871,605 (GRCm39) |
D364E |
probably benign |
Het |
Gm10377 |
G |
A |
14: 42,614,853 (GRCm39) |
P171S |
probably benign |
Het |
Gramd4 |
C |
T |
15: 86,019,607 (GRCm39) |
A625V |
probably benign |
Het |
Il2ra |
T |
A |
2: 11,647,831 (GRCm39) |
M7K |
probably benign |
Het |
Iqgap2 |
A |
T |
13: 95,836,846 (GRCm39) |
|
probably null |
Het |
Itgb4 |
T |
C |
11: 115,888,906 (GRCm39) |
V1083A |
probably benign |
Het |
Kcnma1 |
G |
A |
14: 23,544,638 (GRCm39) |
A573V |
possibly damaging |
Het |
Kirrel1 |
T |
C |
3: 86,995,729 (GRCm39) |
T402A |
probably benign |
Het |
Krt15 |
A |
T |
11: 100,026,386 (GRCm39) |
V100E |
possibly damaging |
Het |
Krt4 |
T |
A |
15: 101,828,823 (GRCm39) |
Q347L |
probably damaging |
Het |
Map3k21 |
T |
A |
8: 126,661,804 (GRCm39) |
I467N |
probably damaging |
Het |
Mastl |
A |
T |
2: 23,030,585 (GRCm39) |
S195T |
probably damaging |
Het |
Mis18bp1 |
G |
T |
12: 65,205,368 (GRCm39) |
T268K |
probably benign |
Het |
Mmp17 |
G |
A |
5: 129,682,836 (GRCm39) |
G492S |
probably null |
Het |
Myc |
T |
A |
15: 61,860,031 (GRCm39) |
S236T |
probably damaging |
Het |
Nlrp5 |
A |
T |
7: 23,117,848 (GRCm39) |
E524V |
probably damaging |
Het |
Nopchap1 |
T |
C |
10: 83,201,680 (GRCm39) |
V151A |
probably benign |
Het |
Npr3 |
T |
A |
15: 11,845,376 (GRCm39) |
|
probably null |
Het |
Oog4 |
T |
C |
4: 143,165,346 (GRCm39) |
N267S |
possibly damaging |
Het |
Or2a12 |
T |
A |
6: 42,904,469 (GRCm39) |
Y101* |
probably null |
Het |
Or4l15 |
A |
T |
14: 50,198,563 (GRCm39) |
|
probably null |
Het |
Or56a5 |
A |
G |
7: 104,793,086 (GRCm39) |
I138T |
possibly damaging |
Het |
Pde4dip |
T |
C |
3: 97,664,587 (GRCm39) |
E425G |
probably benign |
Het |
Piwil4 |
A |
C |
9: 14,638,729 (GRCm39) |
N312K |
probably benign |
Het |
Pmepa1 |
A |
G |
2: 173,076,212 (GRCm39) |
M47T |
possibly damaging |
Het |
Potefam1 |
A |
T |
2: 111,023,826 (GRCm39) |
S475T |
unknown |
Het |
Prkcg |
G |
A |
7: 3,368,069 (GRCm39) |
G372D |
probably benign |
Het |
Prune2 |
A |
G |
19: 17,096,734 (GRCm39) |
H746R |
probably benign |
Het |
Ptma |
GGAAGAAG |
GGAAGAAGAAG |
1: 86,457,261 (GRCm39) |
|
probably benign |
Het |
Rab3gap2 |
C |
G |
1: 184,983,265 (GRCm39) |
A468G |
probably damaging |
Het |
Ralb |
A |
G |
1: 119,400,129 (GRCm39) |
L123P |
|
Het |
Ralgapa2 |
G |
A |
2: 146,189,046 (GRCm39) |
T1288I |
probably benign |
Het |
Samd4b |
C |
A |
7: 28,122,926 (GRCm39) |
C44F |
probably benign |
Het |
Satb1 |
C |
A |
17: 52,090,008 (GRCm39) |
E280* |
probably null |
Het |
Sec1 |
T |
C |
7: 45,328,034 (GRCm39) |
T338A |
probably damaging |
Het |
Sec16a |
T |
C |
2: 26,331,734 (GRCm39) |
T94A |
probably benign |
Het |
Serpina1f |
G |
A |
12: 103,656,086 (GRCm39) |
R381W |
probably damaging |
Het |
Sfswap |
A |
T |
5: 129,620,305 (GRCm39) |
T525S |
probably benign |
Het |
Skor1 |
T |
C |
9: 63,054,169 (GRCm39) |
|
probably null |
Het |
Spc24 |
A |
G |
9: 21,668,664 (GRCm39) |
L111P |
probably damaging |
Het |
St8sia2 |
T |
C |
7: 73,616,675 (GRCm39) |
D121G |
probably damaging |
Het |
Tanc2 |
A |
G |
11: 105,689,422 (GRCm39) |
T195A |
probably benign |
Het |
Tbc1d9 |
T |
A |
8: 83,997,890 (GRCm39) |
I1149N |
probably damaging |
Het |
Tph2 |
A |
T |
10: 114,987,016 (GRCm39) |
L258Q |
probably damaging |
Het |
Trpm3 |
A |
T |
19: 22,879,557 (GRCm39) |
M781L |
probably benign |
Het |
Ubap2 |
G |
T |
4: 41,195,779 (GRCm39) |
P1005T |
probably benign |
Het |
Upf2 |
A |
G |
2: 5,965,851 (GRCm39) |
E157G |
unknown |
Het |
Urb2 |
C |
A |
8: 124,755,008 (GRCm39) |
D238E |
probably benign |
Het |
Vipr1 |
T |
C |
9: 121,497,621 (GRCm39) |
S380P |
probably damaging |
Het |
Zc3h18 |
T |
A |
8: 123,139,760 (GRCm39) |
S734T |
unknown |
Het |
Zmym6 |
T |
A |
4: 126,998,106 (GRCm39) |
Y381N |
probably damaging |
Het |
Zscan4e |
T |
C |
7: 11,041,251 (GRCm39) |
K207R |
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 |
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 |
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'- TTCCCAAGTCTGCTGAGGTTC -3'
(R):5'- AAGATTATGTGTCTGTCCCTGG -3'
Sequencing Primer
(F):5'- AGGTTCACCTGAGACCTTGAC -3'
(R):5'- CTTTTGTGGCAGGTCAAATTGG -3'
|
Posted On |
2019-09-13 |