Incidental Mutation 'R1759:Aox3'
| ID |
195146 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aox3
|
| Ensembl Gene |
ENSMUSG00000064294 |
| Gene Name |
aldehyde oxidase 3 |
| Synonyms |
1200011D03Rik, AOH1 |
| MMRRC Submission |
039791-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1759 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
58152289-58239857 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 58209805 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049391
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040999]
|
| AlphaFold |
G3X982 |
| PDB Structure |
Crystal structure of the mouse liver Aldehyde Oxidase 3 (mAOX3) [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000040999
|
| SMART Domains |
Protein: ENSMUSP00000049391
Gene: ENSMUSG00000064294
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Fer2
|
12 |
82 |
1.4e-9 |
PFAM |
|
Pfam:Fer2_2
|
91 |
165 |
1e-29 |
PFAM |
|
Pfam:FAD_binding_5
|
239 |
419 |
1e-44 |
PFAM |
|
CO_deh_flav_C
|
426 |
530 |
9.26e-24 |
SMART |
|
Ald_Xan_dh_C
|
594 |
697 |
2.27e-41 |
SMART |
|
Pfam:Ald_Xan_dh_C2
|
708 |
1241 |
8.7e-183 |
PFAM |
|
low complexity region
|
1275 |
1286 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160815
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 87 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
A |
T |
10: 29,094,272 (GRCm39) |
M53L |
possibly damaging |
Het |
| Abca5 |
T |
C |
11: 110,184,674 (GRCm39) |
D944G |
probably benign |
Het |
| Ankdd1b |
T |
C |
13: 96,556,211 (GRCm39) |
Y433C |
probably damaging |
Het |
| Ap1g1 |
G |
A |
8: 110,559,853 (GRCm39) |
G260E |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Atp13a4 |
T |
A |
16: 29,275,429 (GRCm39) |
T352S |
probably damaging |
Het |
| Ccdc33 |
T |
A |
9: 58,024,729 (GRCm39) |
N166Y |
possibly damaging |
Het |
| Ces2h |
T |
A |
8: 105,743,243 (GRCm39) |
D159E |
probably damaging |
Het |
| Chd1 |
T |
A |
17: 17,607,533 (GRCm39) |
D360E |
probably benign |
Het |
| Col16a1 |
G |
T |
4: 129,978,062 (GRCm39) |
G781V |
probably damaging |
Het |
| Col6a5 |
T |
A |
9: 105,808,045 (GRCm39) |
E1001V |
unknown |
Het |
| Cracdl |
A |
T |
1: 37,664,791 (GRCm39) |
I369N |
probably benign |
Het |
| Cyp3a59 |
T |
G |
5: 146,035,060 (GRCm39) |
M246R |
probably benign |
Het |
| Dcn |
T |
C |
10: 97,349,517 (GRCm39) |
V263A |
probably benign |
Het |
| Dnttip2 |
A |
G |
3: 122,069,798 (GRCm39) |
N338D |
probably benign |
Het |
| Entpd1 |
G |
T |
19: 40,600,968 (GRCm39) |
|
probably null |
Het |
| Epb41l1 |
A |
G |
2: 156,363,894 (GRCm39) |
D801G |
probably benign |
Het |
| Fam186a |
T |
A |
15: 99,864,762 (GRCm39) |
K23* |
probably null |
Het |
| Gbe1 |
T |
C |
16: 70,284,929 (GRCm39) |
M417T |
probably benign |
Het |
| Gmnc |
T |
A |
16: 26,784,497 (GRCm39) |
S3C |
possibly damaging |
Het |
| Gpr156 |
T |
C |
16: 37,768,583 (GRCm39) |
S35P |
probably damaging |
Het |
| Grid1 |
T |
C |
14: 35,167,988 (GRCm39) |
M504T |
possibly damaging |
Het |
| Gsdma3 |
T |
C |
11: 98,526,071 (GRCm39) |
V265A |
possibly damaging |
Het |
| Hsd3b3 |
A |
T |
3: 98,649,399 (GRCm39) |
I308N |
probably damaging |
Het |
| Inpp4b |
A |
G |
8: 82,494,732 (GRCm39) |
D49G |
probably benign |
Het |
| Ipmk |
C |
A |
10: 71,217,133 (GRCm39) |
Q227K |
probably damaging |
Het |
| Kalrn |
T |
A |
16: 34,181,320 (GRCm39) |
D88V |
probably damaging |
Het |
| Kansl1l |
C |
T |
1: 66,841,047 (GRCm39) |
M84I |
probably damaging |
Het |
| Kcnab2 |
T |
G |
4: 152,477,509 (GRCm39) |
K363Q |
probably damaging |
Het |
| Kdm7a |
C |
A |
6: 39,124,633 (GRCm39) |
|
probably null |
Het |
| Kiss1r |
T |
C |
10: 79,757,612 (GRCm39) |
L322P |
probably damaging |
Het |
| Lce1e |
A |
T |
3: 92,615,178 (GRCm39) |
C56* |
probably null |
Het |
| Lrpprc |
T |
C |
17: 85,047,509 (GRCm39) |
K908E |
probably damaging |
Het |
| Mak |
C |
A |
13: 41,210,110 (GRCm39) |
W42L |
probably damaging |
Het |
| Map3k21 |
A |
G |
8: 126,671,519 (GRCm39) |
T936A |
probably benign |
Het |
| Marchf7 |
C |
T |
2: 60,064,888 (GRCm39) |
S388F |
probably damaging |
Het |
| Matcap1 |
A |
T |
8: 106,012,182 (GRCm39) |
S88R |
probably damaging |
Het |
| Mgat2 |
A |
T |
12: 69,232,301 (GRCm39) |
I292F |
probably benign |
Het |
| Myh3 |
C |
A |
11: 66,987,717 (GRCm39) |
R1397S |
probably damaging |
Het |
| Myo5a |
A |
G |
9: 75,089,275 (GRCm39) |
D1135G |
possibly damaging |
Het |
| N4bp2 |
A |
G |
5: 65,983,956 (GRCm39) |
E1667G |
probably damaging |
Het |
| Nbr1 |
A |
G |
11: 101,450,369 (GRCm39) |
T43A |
probably damaging |
Het |
| Nip7 |
A |
G |
8: 107,784,767 (GRCm39) |
N124S |
probably benign |
Het |
| Or3a1 |
G |
A |
11: 74,225,808 (GRCm39) |
S83F |
possibly damaging |
Het |
| Or51l14 |
T |
C |
7: 103,101,356 (GRCm39) |
S271P |
probably benign |
Het |
| Or6c75 |
T |
A |
10: 129,336,775 (GRCm39) |
S7R |
probably benign |
Het |
| Or7g25 |
C |
T |
9: 19,160,384 (GRCm39) |
V104I |
probably benign |
Het |
| Or8b55 |
T |
C |
9: 38,727,194 (GRCm39) |
Y132H |
probably damaging |
Het |
| Otoa |
T |
C |
7: 120,733,326 (GRCm39) |
L731P |
probably damaging |
Het |
| Pcnx2 |
G |
A |
8: 126,500,717 (GRCm39) |
P1458S |
probably damaging |
Het |
| Pfpl |
A |
G |
19: 12,407,224 (GRCm39) |
T492A |
probably damaging |
Het |
| Pgm1 |
A |
G |
4: 99,824,305 (GRCm39) |
D326G |
probably damaging |
Het |
| Plekhh1 |
T |
A |
12: 79,119,535 (GRCm39) |
Y953N |
probably damaging |
Het |
| Pnkd |
G |
A |
1: 74,387,922 (GRCm39) |
A195T |
probably damaging |
Het |
| Ppib |
C |
T |
9: 65,968,764 (GRCm39) |
Q51* |
probably null |
Het |
| Ppip5k1 |
G |
T |
2: 121,181,067 (GRCm39) |
T13K |
probably benign |
Het |
| Psmg2 |
A |
T |
18: 67,781,246 (GRCm39) |
S113C |
probably benign |
Het |
| Rapgef2 |
A |
G |
3: 78,974,038 (GRCm39) |
M1584T |
possibly damaging |
Het |
| Rbm12b1 |
A |
C |
4: 12,145,424 (GRCm39) |
R465S |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,215,287 (GRCm39) |
Y1055H |
probably damaging |
Het |
| Ros1 |
A |
T |
10: 51,996,922 (GRCm39) |
I1250K |
probably damaging |
Het |
| Samd9l |
C |
A |
6: 3,373,401 (GRCm39) |
V1287F |
probably damaging |
Het |
| Sgce |
A |
T |
6: 4,689,765 (GRCm39) |
I356N |
probably damaging |
Het |
| Sh3tc1 |
C |
T |
5: 35,863,248 (GRCm39) |
E980K |
possibly damaging |
Het |
| Sil1 |
T |
C |
18: 35,551,151 (GRCm39) |
E68G |
possibly damaging |
Het |
| Slc18a1 |
A |
G |
8: 69,518,237 (GRCm39) |
I259T |
possibly damaging |
Het |
| Slc6a20b |
A |
C |
9: 123,438,062 (GRCm39) |
|
probably null |
Het |
| Smg7 |
G |
T |
1: 152,724,597 (GRCm39) |
T536K |
probably benign |
Het |
| Smyd4 |
A |
G |
11: 75,273,192 (GRCm39) |
Y84C |
probably damaging |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Sorbs2 |
A |
T |
8: 46,216,056 (GRCm39) |
*50C |
probably null |
Het |
| Speg |
A |
T |
1: 75,377,806 (GRCm39) |
M855L |
possibly damaging |
Het |
| Srrt |
G |
T |
5: 137,301,212 (GRCm39) |
H71Q |
probably damaging |
Het |
| St6galnac5 |
A |
G |
3: 152,552,130 (GRCm39) |
S146P |
probably damaging |
Het |
| Syne1 |
T |
A |
10: 5,299,369 (GRCm39) |
Q962L |
probably damaging |
Het |
| Tiam2 |
A |
G |
17: 3,566,278 (GRCm39) |
H1441R |
probably damaging |
Het |
| Tmem45a |
C |
T |
16: 56,642,765 (GRCm39) |
M135I |
probably benign |
Het |
| Tpr |
A |
T |
1: 150,305,275 (GRCm39) |
E1521D |
probably benign |
Het |
| Uba3 |
C |
T |
6: 97,173,865 (GRCm39) |
G107R |
probably damaging |
Het |
| Unc45b |
G |
T |
11: 82,820,325 (GRCm39) |
V590F |
probably benign |
Het |
| Vmn1r14 |
A |
T |
6: 57,211,297 (GRCm39) |
T292S |
probably benign |
Het |
| Vmn2r102 |
T |
A |
17: 19,914,755 (GRCm39) |
N773K |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 144,882,427 (GRCm39) |
D1055E |
probably benign |
Het |
| Wfs1 |
G |
C |
5: 37,124,359 (GRCm39) |
A844G |
probably damaging |
Het |
| Zfp398 |
A |
G |
6: 47,836,412 (GRCm39) |
T71A |
possibly damaging |
Het |
| Zfp507 |
C |
A |
7: 35,475,403 (GRCm39) |
A145S |
probably damaging |
Het |
| Zfp971 |
A |
T |
2: 177,675,722 (GRCm39) |
E440D |
probably damaging |
Het |
|
| Other mutations in Aox3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01599:Aox3
|
APN |
1 |
58,208,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01747:Aox3
|
APN |
1 |
58,198,817 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01883:Aox3
|
APN |
1 |
58,177,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01911:Aox3
|
APN |
1 |
58,191,719 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02017:Aox3
|
APN |
1 |
58,160,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02120:Aox3
|
APN |
1 |
58,166,809 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02466:Aox3
|
APN |
1 |
58,197,431 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL02545:Aox3
|
APN |
1 |
58,222,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02572:Aox3
|
APN |
1 |
58,197,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02746:Aox3
|
APN |
1 |
58,222,701 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02808:Aox3
|
APN |
1 |
58,181,859 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02812:Aox3
|
APN |
1 |
58,205,055 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02982:Aox3
|
APN |
1 |
58,166,846 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03056:Aox3
|
APN |
1 |
58,198,180 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03182:Aox3
|
APN |
1 |
58,205,046 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03234:Aox3
|
APN |
1 |
58,191,845 (GRCm39) |
missense |
probably benign |
|
|
IGL03374:Aox3
|
APN |
1 |
58,211,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
amber
|
UTSW |
1 |
58,211,050 (GRCm39) |
nonsense |
probably null |
|
|
R0071:Aox3
|
UTSW |
1 |
58,211,050 (GRCm39) |
nonsense |
probably null |
|
|
R0071:Aox3
|
UTSW |
1 |
58,211,050 (GRCm39) |
nonsense |
probably null |
|
|
R0135:Aox3
|
UTSW |
1 |
58,164,247 (GRCm39) |
splice site |
probably benign |
|
|
R0332:Aox3
|
UTSW |
1 |
58,181,910 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0626:Aox3
|
UTSW |
1 |
58,211,458 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1325:Aox3
|
UTSW |
1 |
58,215,726 (GRCm39) |
nonsense |
probably null |
|
|
R1435:Aox3
|
UTSW |
1 |
58,202,605 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1438:Aox3
|
UTSW |
1 |
58,192,337 (GRCm39) |
missense |
probably benign |
|
|
R1567:Aox3
|
UTSW |
1 |
58,233,852 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1575:Aox3
|
UTSW |
1 |
58,191,713 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1785:Aox3
|
UTSW |
1 |
58,209,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1786:Aox3
|
UTSW |
1 |
58,209,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1921:Aox3
|
UTSW |
1 |
58,219,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1984:Aox3
|
UTSW |
1 |
58,192,220 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2012:Aox3
|
UTSW |
1 |
58,177,391 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2080:Aox3
|
UTSW |
1 |
58,225,439 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2121:Aox3
|
UTSW |
1 |
58,191,708 (GRCm39) |
splice site |
probably benign |
|
|
R2126:Aox3
|
UTSW |
1 |
58,197,375 (GRCm39) |
missense |
probably benign |
0.25 |
|
R2130:Aox3
|
UTSW |
1 |
58,209,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2131:Aox3
|
UTSW |
1 |
58,209,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2132:Aox3
|
UTSW |
1 |
58,209,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2133:Aox3
|
UTSW |
1 |
58,209,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2385:Aox3
|
UTSW |
1 |
58,177,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2495:Aox3
|
UTSW |
1 |
58,227,567 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4200:Aox3
|
UTSW |
1 |
58,227,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4231:Aox3
|
UTSW |
1 |
58,154,044 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4591:Aox3
|
UTSW |
1 |
58,191,815 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4627:Aox3
|
UTSW |
1 |
58,164,194 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4831:Aox3
|
UTSW |
1 |
58,191,725 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4864:Aox3
|
UTSW |
1 |
58,215,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4976:Aox3
|
UTSW |
1 |
58,227,683 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5007:Aox3
|
UTSW |
1 |
58,202,583 (GRCm39) |
missense |
probably benign |
|
|
R5119:Aox3
|
UTSW |
1 |
58,227,683 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5175:Aox3
|
UTSW |
1 |
58,211,487 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5360:Aox3
|
UTSW |
1 |
58,185,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5784:Aox3
|
UTSW |
1 |
58,192,658 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6050:Aox3
|
UTSW |
1 |
58,219,814 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6056:Aox3
|
UTSW |
1 |
58,209,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6162:Aox3
|
UTSW |
1 |
58,198,890 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6181:Aox3
|
UTSW |
1 |
58,198,105 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6374:Aox3
|
UTSW |
1 |
58,211,320 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6662:Aox3
|
UTSW |
1 |
58,157,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6809:Aox3
|
UTSW |
1 |
58,157,840 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6810:Aox3
|
UTSW |
1 |
58,180,590 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6821:Aox3
|
UTSW |
1 |
58,189,547 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7039:Aox3
|
UTSW |
1 |
58,215,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7116:Aox3
|
UTSW |
1 |
58,192,689 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7146:Aox3
|
UTSW |
1 |
58,197,688 (GRCm39) |
splice site |
probably null |
|
|
R7163:Aox3
|
UTSW |
1 |
58,158,671 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7243:Aox3
|
UTSW |
1 |
58,177,466 (GRCm39) |
missense |
unknown |
|
|
R7319:Aox3
|
UTSW |
1 |
58,191,761 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7423:Aox3
|
UTSW |
1 |
58,160,228 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7664:Aox3
|
UTSW |
1 |
58,158,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7709:Aox3
|
UTSW |
1 |
58,219,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7745:Aox3
|
UTSW |
1 |
58,215,676 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7751:Aox3
|
UTSW |
1 |
58,218,494 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7912:Aox3
|
UTSW |
1 |
58,181,855 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7940:Aox3
|
UTSW |
1 |
58,227,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8143:Aox3
|
UTSW |
1 |
58,198,074 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8178:Aox3
|
UTSW |
1 |
58,189,481 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8719:Aox3
|
UTSW |
1 |
58,158,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8861:Aox3
|
UTSW |
1 |
58,189,460 (GRCm39) |
missense |
probably benign |
|
|
R9379:Aox3
|
UTSW |
1 |
58,208,959 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9459:Aox3
|
UTSW |
1 |
58,189,468 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9472:Aox3
|
UTSW |
1 |
58,215,669 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R9479:Aox3
|
UTSW |
1 |
58,177,568 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9521:Aox3
|
UTSW |
1 |
58,164,222 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9750:Aox3
|
UTSW |
1 |
58,215,648 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGAATCAGAGCAGACTGCCCCATC -3'
(R):5'- TGGAAGCATCTGGAGTCACCCTTAC -3'
Sequencing Primer
(F):5'- gcatcagcagcagcagg -3'
(R):5'- GGAGTCACCCTTACAGTTTATTG -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation