Incidental Mutation 'R4729:Aox4'
ID |
358646 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aox4
|
Ensembl Gene |
ENSMUSG00000038242 |
Gene Name |
aldehyde oxidase 4 |
Synonyms |
AOH2, 2310003G12Rik |
MMRRC Submission |
041603-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4729 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
58249556-58307756 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 58298236 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 1067
(Y1067*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048929
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040442]
|
AlphaFold |
Q3TYQ9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000040442
AA Change: Y1067*
|
SMART Domains |
Protein: ENSMUSP00000048929 Gene: ENSMUSG00000038242 AA Change: Y1067*
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
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
|
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
T |
A |
16: 4,667,187 (GRCm39) |
L220H |
unknown |
Het |
Amt |
T |
A |
9: 108,177,851 (GRCm39) |
L272Q |
probably damaging |
Het |
Ank2 |
G |
C |
3: 126,770,545 (GRCm39) |
Y894* |
probably null |
Het |
Ankzf1 |
T |
A |
1: 75,170,908 (GRCm39) |
F105I |
probably damaging |
Het |
BC034090 |
T |
A |
1: 155,100,836 (GRCm39) |
Q476L |
probably damaging |
Het |
Bhmt |
G |
T |
13: 93,763,871 (GRCm39) |
R57S |
probably damaging |
Het |
Cacna1c |
A |
T |
6: 118,633,136 (GRCm39) |
F964L |
probably damaging |
Het |
Celsr3 |
A |
C |
9: 108,724,851 (GRCm39) |
S396R |
probably benign |
Het |
Cpne4 |
C |
A |
9: 104,799,755 (GRCm39) |
Q191K |
probably damaging |
Het |
Csnk1g2 |
T |
C |
10: 80,475,038 (GRCm39) |
Y352H |
probably benign |
Het |
D630003M21Rik |
A |
G |
2: 158,058,623 (GRCm39) |
S426P |
probably damaging |
Het |
Dennd10 |
T |
A |
19: 60,823,309 (GRCm39) |
F315I |
probably benign |
Het |
Dido1 |
G |
T |
2: 180,329,443 (GRCm39) |
N326K |
probably benign |
Het |
E2f2 |
T |
A |
4: 135,911,760 (GRCm39) |
I257N |
probably damaging |
Het |
Elfn1 |
T |
G |
5: 139,959,413 (GRCm39) |
F806V |
probably damaging |
Het |
Eml6 |
T |
A |
11: 29,783,204 (GRCm39) |
Y559F |
probably damaging |
Het |
Erich6 |
A |
G |
3: 58,543,480 (GRCm39) |
|
probably null |
Het |
Fam78a |
T |
C |
2: 31,972,617 (GRCm39) |
N101S |
probably damaging |
Het |
Fam83h |
A |
G |
15: 75,874,185 (GRCm39) |
S1051P |
probably benign |
Het |
Galns |
C |
T |
8: 123,330,195 (GRCm39) |
G112D |
probably damaging |
Het |
Gm9923 |
A |
G |
10: 72,145,524 (GRCm39) |
K125R |
probably damaging |
Het |
Hectd3 |
G |
A |
4: 116,854,415 (GRCm39) |
V326M |
probably damaging |
Het |
Iars2 |
A |
G |
1: 185,048,248 (GRCm39) |
S495P |
possibly damaging |
Het |
Ice1 |
T |
C |
13: 70,754,503 (GRCm39) |
R528G |
probably damaging |
Het |
Igkv12-38 |
T |
A |
6: 69,920,368 (GRCm39) |
Y50F |
possibly damaging |
Het |
Inpp5j |
T |
C |
11: 3,445,025 (GRCm39) |
S883G |
probably damaging |
Het |
Irf8 |
T |
C |
8: 121,480,178 (GRCm39) |
S139P |
probably damaging |
Het |
Itpr2 |
A |
G |
6: 146,274,671 (GRCm39) |
F837S |
probably damaging |
Het |
Kcnq4 |
G |
T |
4: 120,570,271 (GRCm39) |
D357E |
possibly damaging |
Het |
Klhl1 |
A |
G |
14: 96,517,584 (GRCm39) |
L364P |
probably damaging |
Het |
Krt7 |
A |
G |
15: 101,318,439 (GRCm39) |
I309V |
probably benign |
Het |
Krt76 |
G |
T |
15: 101,797,516 (GRCm39) |
A281D |
probably damaging |
Het |
Lancl2 |
T |
C |
6: 57,714,697 (GRCm39) |
F430L |
probably damaging |
Het |
Llgl2 |
T |
C |
11: 115,739,125 (GRCm39) |
V332A |
probably damaging |
Het |
Lrrc26 |
A |
T |
2: 25,180,076 (GRCm39) |
T26S |
probably benign |
Het |
Lrrk1 |
T |
A |
7: 65,912,041 (GRCm39) |
M1840L |
probably benign |
Het |
Lyst |
G |
A |
13: 13,812,486 (GRCm39) |
C966Y |
probably damaging |
Het |
Mad1l1 |
T |
A |
5: 140,247,266 (GRCm39) |
S354C |
possibly damaging |
Het |
Mbtps1 |
C |
T |
8: 120,252,159 (GRCm39) |
G577D |
probably damaging |
Het |
Mycbp2 |
C |
T |
14: 103,426,027 (GRCm39) |
R2366H |
probably damaging |
Het |
Myo18a |
T |
G |
11: 77,668,511 (GRCm39) |
|
probably null |
Het |
Naip5 |
G |
A |
13: 100,358,639 (GRCm39) |
R866C |
possibly damaging |
Het |
Nav2 |
T |
A |
7: 49,102,567 (GRCm39) |
V455E |
probably benign |
Het |
Neb |
A |
G |
2: 52,153,674 (GRCm39) |
I2417T |
possibly damaging |
Het |
Nme5 |
C |
T |
18: 34,702,890 (GRCm39) |
A133T |
probably benign |
Het |
Nradd |
T |
C |
9: 110,450,979 (GRCm39) |
D51G |
possibly damaging |
Het |
Pard3b |
A |
G |
1: 62,250,843 (GRCm39) |
R591G |
probably damaging |
Het |
Pcbp4 |
T |
C |
9: 106,337,929 (GRCm39) |
F73S |
probably damaging |
Het |
Pcdhb11 |
C |
T |
18: 37,555,419 (GRCm39) |
Q250* |
probably null |
Het |
Pde1c |
T |
A |
6: 56,049,194 (GRCm39) |
K766N |
probably damaging |
Het |
Phf21b |
G |
A |
15: 84,738,942 (GRCm39) |
Q40* |
probably null |
Het |
Prr14 |
A |
G |
7: 127,073,868 (GRCm39) |
D244G |
probably benign |
Het |
Rab11fip5 |
C |
T |
6: 85,351,249 (GRCm39) |
A88T |
probably damaging |
Het |
Rad54l2 |
A |
T |
9: 106,593,317 (GRCm39) |
S428T |
probably benign |
Het |
Rdh9 |
A |
G |
10: 127,612,621 (GRCm39) |
I90V |
probably benign |
Het |
Rhag |
G |
T |
17: 41,139,292 (GRCm39) |
G76C |
probably damaging |
Het |
Riok3 |
T |
A |
18: 12,261,984 (GRCm39) |
V6E |
possibly damaging |
Het |
Rnf7l |
A |
T |
10: 63,257,244 (GRCm39) |
V92E |
probably damaging |
Het |
Scn10a |
A |
G |
9: 119,500,592 (GRCm39) |
I229T |
probably damaging |
Het |
Slco1a1 |
G |
T |
6: 141,854,695 (GRCm39) |
T652K |
probably benign |
Het |
Slit1 |
T |
A |
19: 41,635,459 (GRCm39) |
I345F |
probably damaging |
Het |
Snrnp200 |
A |
T |
2: 127,074,857 (GRCm39) |
I1477F |
probably damaging |
Het |
Snx31 |
G |
A |
15: 36,523,698 (GRCm39) |
T328I |
possibly damaging |
Het |
Strn |
A |
G |
17: 78,965,390 (GRCm39) |
F634S |
probably damaging |
Het |
Tmem101 |
C |
T |
11: 102,047,155 (GRCm39) |
G6R |
probably benign |
Het |
Tmem199 |
C |
G |
11: 78,399,506 (GRCm39) |
G131R |
probably benign |
Het |
Trim66 |
A |
G |
7: 109,055,267 (GRCm39) |
|
probably null |
Het |
Ttn |
G |
T |
2: 76,681,929 (GRCm39) |
|
probably benign |
Het |
Upk3bl |
T |
C |
5: 136,086,247 (GRCm39) |
L61P |
probably benign |
Het |
Vmn2r108 |
A |
G |
17: 20,692,632 (GRCm39) |
Y75H |
probably damaging |
Het |
Vmn2r91 |
T |
A |
17: 18,327,906 (GRCm39) |
I500K |
probably damaging |
Het |
Vps18 |
C |
T |
2: 119,124,272 (GRCm39) |
R400C |
probably damaging |
Het |
Zeb1 |
C |
T |
18: 5,767,286 (GRCm39) |
P599L |
probably damaging |
Het |
Zfhx4 |
G |
T |
3: 5,464,557 (GRCm39) |
A1572S |
probably damaging |
Het |
Zfp677 |
T |
A |
17: 21,617,680 (GRCm39) |
C246S |
possibly damaging |
Het |
Zfp719 |
T |
A |
7: 43,239,834 (GRCm39) |
I474N |
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 |
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 |
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'- GTCTACAAGAAGAGGTGTGTCC -3'
(R):5'- AGTGCACTAGAGCTATGCCTC -3'
Sequencing Primer
(F):5'- GTCCTTGACATGTGGTTTAAAACCC -3'
(R):5'- AGAGCTATGCCTCCCTTCAC -3'
|
Posted On |
2015-11-11 |