Incidental Mutation 'R6052:Aox4'
ID |
484126 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aox4
|
Ensembl Gene |
ENSMUSG00000038242 |
Gene Name |
aldehyde oxidase 4 |
Synonyms |
AOH2, 2310003G12Rik |
MMRRC Submission |
044220-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6052 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
58249556-58307756 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 58293477 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 943
(L943*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048929
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040442]
|
AlphaFold |
Q3TYQ9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000040442
AA Change: L943*
|
SMART Domains |
Protein: ENSMUSP00000048929 Gene: ENSMUSG00000038242 AA Change: L943*
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: ENSMUST00000161126
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161833
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.7%
|
Validation Efficiency |
96% (80/83) |
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
A |
G |
17: 24,537,165 (GRCm39) |
F473L |
probably benign |
Het |
Ankrd17 |
T |
C |
5: 90,401,691 (GRCm39) |
I1449V |
probably benign |
Het |
Arap1 |
G |
A |
7: 101,053,240 (GRCm39) |
V1257M |
probably damaging |
Het |
B3gnt9 |
T |
C |
8: 105,981,230 (GRCm39) |
S53G |
probably benign |
Het |
Baiap3 |
A |
T |
17: 25,467,444 (GRCm39) |
|
probably benign |
Het |
Canx |
T |
C |
11: 50,187,946 (GRCm39) |
D554G |
possibly damaging |
Het |
Cbfa2t2 |
T |
C |
2: 154,352,501 (GRCm39) |
V165A |
probably damaging |
Het |
Ccdc17 |
C |
T |
4: 116,457,145 (GRCm39) |
|
probably null |
Het |
Cdcp1 |
A |
G |
9: 123,014,396 (GRCm39) |
I126T |
probably benign |
Het |
Cdk13 |
A |
T |
13: 17,895,800 (GRCm39) |
D1036E |
probably damaging |
Het |
Cfap157 |
A |
G |
2: 32,669,863 (GRCm39) |
L240P |
probably damaging |
Het |
Clec18a |
C |
A |
8: 111,805,448 (GRCm39) |
E218* |
probably null |
Het |
Col3a1 |
T |
C |
1: 45,384,173 (GRCm39) |
|
probably benign |
Het |
Dennd4a |
A |
G |
9: 64,794,227 (GRCm39) |
E682G |
probably damaging |
Het |
Dnah14 |
T |
C |
1: 181,494,052 (GRCm39) |
V1736A |
possibly damaging |
Het |
Dpep2 |
T |
A |
8: 106,717,270 (GRCm39) |
D162V |
possibly damaging |
Het |
Drd3 |
C |
A |
16: 43,641,646 (GRCm39) |
P321T |
probably benign |
Het |
Egfr |
A |
G |
11: 16,861,554 (GRCm39) |
H1111R |
probably benign |
Het |
Entpd1 |
T |
C |
19: 40,708,928 (GRCm39) |
S58P |
probably damaging |
Het |
Epha3 |
C |
A |
16: 63,423,967 (GRCm39) |
V541L |
possibly damaging |
Het |
Eri3 |
T |
A |
4: 117,421,825 (GRCm39) |
D34E |
probably damaging |
Het |
Eya1 |
T |
C |
1: 14,353,374 (GRCm39) |
D58G |
probably damaging |
Het |
Fat3 |
T |
A |
9: 15,833,975 (GRCm39) |
S26C |
probably null |
Het |
Fgl1 |
T |
C |
8: 41,653,548 (GRCm39) |
D115G |
probably damaging |
Het |
Fitm2 |
T |
C |
2: 163,312,036 (GRCm39) |
Y59C |
probably damaging |
Het |
Fras1 |
T |
A |
5: 96,912,725 (GRCm39) |
I3343N |
probably damaging |
Het |
Gba2 |
C |
A |
4: 43,568,330 (GRCm39) |
C679F |
probably damaging |
Het |
Glis2 |
G |
A |
16: 4,431,603 (GRCm39) |
|
probably benign |
Het |
Gm5150 |
T |
A |
3: 16,044,917 (GRCm39) |
I103F |
probably damaging |
Het |
Hhipl2 |
T |
C |
1: 183,204,965 (GRCm39) |
S313P |
possibly damaging |
Het |
Hmgcs1 |
A |
G |
13: 120,166,995 (GRCm39) |
D474G |
probably benign |
Het |
Homer3 |
C |
T |
8: 70,744,076 (GRCm39) |
Q267* |
probably null |
Het |
Hsd17b8 |
A |
G |
17: 34,246,429 (GRCm39) |
L118P |
probably damaging |
Het |
Igkv8-28 |
C |
T |
6: 70,120,673 (GRCm39) |
G90D |
probably damaging |
Het |
Kalrn |
T |
A |
16: 34,181,255 (GRCm39) |
I128F |
probably damaging |
Het |
Krt4 |
A |
G |
15: 101,831,194 (GRCm39) |
|
probably null |
Het |
Lamb2 |
T |
A |
9: 108,364,811 (GRCm39) |
C1188* |
probably null |
Het |
Lsr |
A |
T |
7: 30,658,042 (GRCm39) |
M355K |
probably damaging |
Het |
Map3k11 |
T |
G |
19: 5,747,430 (GRCm39) |
D555E |
probably benign |
Het |
Myocd |
A |
G |
11: 65,087,082 (GRCm39) |
Y282H |
probably damaging |
Het |
Nae1 |
T |
C |
8: 105,261,176 (GRCm39) |
I7M |
probably benign |
Het |
Nprl3 |
G |
T |
11: 32,205,453 (GRCm39) |
H102N |
possibly damaging |
Het |
Nup62 |
T |
A |
7: 44,478,464 (GRCm39) |
F160I |
possibly damaging |
Het |
Or10w1 |
C |
A |
19: 13,631,871 (GRCm39) |
P26Q |
possibly damaging |
Het |
Or2d3c |
A |
T |
7: 106,525,896 (GRCm39) |
F257I |
probably benign |
Het |
Or2r2 |
T |
A |
6: 42,463,588 (GRCm39) |
T180S |
possibly damaging |
Het |
Or5p76 |
A |
G |
7: 108,122,945 (GRCm39) |
S71P |
probably benign |
Het |
Or6c35 |
C |
A |
10: 129,169,071 (GRCm39) |
T107K |
possibly damaging |
Het |
Osbpl10 |
T |
C |
9: 114,896,383 (GRCm39) |
|
probably null |
Het |
Pcdh9 |
C |
T |
14: 94,123,282 (GRCm39) |
V963I |
probably benign |
Het |
Phf12 |
A |
G |
11: 77,909,044 (GRCm39) |
R375G |
probably benign |
Het |
Piezo1 |
G |
A |
8: 123,233,008 (GRCm39) |
T108M |
probably damaging |
Het |
Plxnc1 |
T |
A |
10: 94,779,635 (GRCm39) |
Q269L |
probably benign |
Het |
Pomgnt1 |
T |
A |
4: 116,008,799 (GRCm39) |
N11K |
possibly damaging |
Het |
Pramel22 |
T |
A |
4: 143,382,222 (GRCm39) |
D158V |
probably damaging |
Het |
Prkd1 |
A |
T |
12: 50,413,083 (GRCm39) |
|
probably null |
Het |
Prpf40a |
T |
C |
2: 53,049,293 (GRCm39) |
T190A |
probably benign |
Het |
Prrc2b |
A |
C |
2: 32,102,297 (GRCm39) |
H790P |
possibly damaging |
Het |
Rest |
T |
G |
5: 77,429,027 (GRCm39) |
V482G |
probably benign |
Het |
Ros1 |
T |
A |
10: 52,039,999 (GRCm39) |
I322L |
probably benign |
Het |
Rpl18 |
G |
A |
7: 45,369,554 (GRCm39) |
|
probably benign |
Het |
Rsad2 |
G |
A |
12: 26,500,577 (GRCm39) |
H237Y |
probably benign |
Het |
Sbf2 |
A |
G |
7: 110,040,741 (GRCm39) |
L362S |
probably damaging |
Het |
Sgsm3 |
A |
G |
15: 80,893,464 (GRCm39) |
T409A |
probably benign |
Het |
Slc16a14 |
T |
C |
1: 84,890,430 (GRCm39) |
T292A |
possibly damaging |
Het |
Spg11 |
T |
G |
2: 121,927,837 (GRCm39) |
K649T |
probably damaging |
Het |
Srprb |
T |
A |
9: 103,067,415 (GRCm39) |
I268F |
possibly damaging |
Het |
Tap2 |
G |
A |
17: 34,433,683 (GRCm39) |
G566S |
probably damaging |
Het |
Tecpr2 |
T |
C |
12: 110,885,325 (GRCm39) |
V168A |
possibly damaging |
Het |
Tln1 |
G |
C |
4: 43,555,052 (GRCm39) |
F259L |
probably damaging |
Het |
Tmem181a |
T |
A |
17: 6,330,890 (GRCm39) |
L50H |
probably damaging |
Het |
Tshz1 |
A |
G |
18: 84,032,194 (GRCm39) |
I738T |
probably damaging |
Het |
Tspan12 |
T |
C |
6: 21,772,637 (GRCm39) |
E304G |
probably benign |
Het |
Urb1 |
C |
T |
16: 90,559,271 (GRCm39) |
G1671S |
probably damaging |
Het |
Vmn2r2 |
T |
C |
3: 64,024,782 (GRCm39) |
S600G |
possibly damaging |
Het |
Wnt3 |
C |
A |
11: 103,699,000 (GRCm39) |
Y35* |
probably null |
Het |
Xpo7 |
T |
C |
14: 70,921,159 (GRCm39) |
Y603C |
possibly damaging |
Het |
Zfp457 |
G |
A |
13: 67,442,015 (GRCm39) |
H91Y |
probably damaging |
Het |
Zfp664 |
T |
A |
5: 124,963,250 (GRCm39) |
C215S |
unknown |
Het |
Zfp882 |
G |
A |
8: 72,668,349 (GRCm39) |
G392D |
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 |
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'- CAGGTGATAGAATTTGTCGTGC -3'
(R):5'- CAATGAGCTGGCCTAAGACCAG -3'
Sequencing Primer
(F):5'- AGAATTTGTCGTGCTGAAATCTG -3'
(R):5'- AATAGTATCACGGGTAGAAGCTATC -3'
|
Posted On |
2017-07-14 |