Incidental Mutation 'R1575:Aox3'
| ID |
171067 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aox3
|
| Ensembl Gene |
ENSMUSG00000064294 |
| Gene Name |
aldehyde oxidase 3 |
| Synonyms |
1200011D03Rik, AOH1 |
| MMRRC Submission |
039613-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1575 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
58152289-58239857 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 58191713 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 422
(W422R)
|
| 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 benign
Transcript: ENSMUST00000040999
AA Change: W422R
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000049391
Gene: ENSMUSG00000064294
AA Change: W422R
| 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: ENSMUST00000158650
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.5%
|
| Validation Efficiency |
100% (72/72) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl2 |
T |
A |
3: 148,558,398 (GRCm39) |
T437S |
probably benign |
Het |
| Akna |
A |
G |
4: 63,297,570 (GRCm39) |
F828S |
probably benign |
Het |
| Alg9 |
G |
T |
9: 50,686,802 (GRCm39) |
A40S |
possibly damaging |
Het |
| Alox8 |
T |
A |
11: 69,076,067 (GRCm39) |
H628L |
possibly damaging |
Het |
| Atp13a4 |
T |
C |
16: 29,228,528 (GRCm39) |
D984G |
probably benign |
Het |
| Bcam |
T |
C |
7: 19,494,307 (GRCm39) |
E363G |
possibly damaging |
Het |
| Cadps2 |
C |
A |
6: 23,429,217 (GRCm39) |
V519F |
probably damaging |
Het |
| Calca |
A |
G |
7: 114,234,396 (GRCm39) |
Y18H |
probably damaging |
Het |
| Cd70 |
A |
G |
17: 57,453,364 (GRCm39) |
I100T |
probably damaging |
Het |
| Cdk4 |
T |
A |
10: 126,900,520 (GRCm39) |
H95Q |
probably damaging |
Het |
| Chchd1 |
T |
A |
14: 20,753,410 (GRCm39) |
N11K |
probably damaging |
Het |
| Cma2 |
T |
A |
14: 56,210,272 (GRCm39) |
N52K |
probably damaging |
Het |
| Cyp3a16 |
A |
G |
5: 145,373,267 (GRCm39) |
V500A |
probably benign |
Het |
| Dicer1 |
A |
G |
12: 104,688,228 (GRCm39) |
|
probably null |
Het |
| Dnajc13 |
A |
G |
9: 104,034,037 (GRCm39) |
S2206P |
probably benign |
Het |
| Dtl |
T |
C |
1: 191,293,658 (GRCm39) |
|
probably null |
Het |
| Fam186b |
T |
C |
15: 99,184,852 (GRCm39) |
T24A |
probably benign |
Het |
| Fbxw21 |
A |
G |
9: 108,990,984 (GRCm39) |
V25A |
probably benign |
Het |
| Gins1 |
T |
C |
2: 150,754,758 (GRCm39) |
S45P |
probably benign |
Het |
| Gtpbp2 |
T |
A |
17: 46,476,869 (GRCm39) |
V349D |
probably damaging |
Het |
| Hyal5 |
G |
T |
6: 24,876,792 (GRCm39) |
D222Y |
probably damaging |
Het |
| Itgal |
A |
G |
7: 126,900,060 (GRCm39) |
|
probably null |
Het |
| Klk14 |
A |
G |
7: 43,343,377 (GRCm39) |
|
probably null |
Het |
| Lama1 |
T |
A |
17: 68,117,404 (GRCm39) |
L2518Q |
possibly damaging |
Het |
| Lrrc2 |
G |
A |
9: 110,808,555 (GRCm39) |
G264D |
probably benign |
Het |
| Ltbp4 |
A |
G |
7: 27,022,245 (GRCm39) |
S893P |
probably damaging |
Het |
| Mast4 |
G |
A |
13: 102,875,771 (GRCm39) |
P1107L |
probably damaging |
Het |
| Mbd1 |
T |
A |
18: 74,408,490 (GRCm39) |
|
probably null |
Het |
| Naip2 |
A |
T |
13: 100,291,529 (GRCm39) |
D1136E |
probably benign |
Het |
| Naip2 |
G |
A |
13: 100,291,537 (GRCm39) |
|
probably benign |
Het |
| Ncan |
G |
A |
8: 70,562,848 (GRCm39) |
T470I |
probably benign |
Het |
| Npy1r |
A |
T |
8: 67,156,813 (GRCm39) |
I78F |
probably damaging |
Het |
| Or10q1b |
A |
T |
19: 13,682,889 (GRCm39) |
M233L |
probably benign |
Het |
| Or8b52 |
G |
A |
9: 38,576,573 (GRCm39) |
T189M |
probably damaging |
Het |
| Palb2 |
A |
T |
7: 121,710,061 (GRCm39) |
|
probably null |
Het |
| Pax3 |
T |
C |
1: 78,080,121 (GRCm39) |
T422A |
probably benign |
Het |
| Pebp1 |
A |
T |
5: 117,424,229 (GRCm39) |
D72E |
possibly damaging |
Het |
| Pnliprp1 |
A |
T |
19: 58,728,901 (GRCm39) |
T363S |
probably benign |
Het |
| Rbm44 |
G |
A |
1: 91,084,565 (GRCm39) |
|
probably null |
Het |
| Rbm47 |
T |
A |
5: 66,182,358 (GRCm39) |
Y425F |
probably benign |
Het |
| Robo3 |
G |
T |
9: 37,340,957 (GRCm39) |
A83E |
probably damaging |
Het |
| Rrm1 |
A |
G |
7: 102,105,721 (GRCm39) |
Y279C |
probably damaging |
Het |
| Rslcan18 |
A |
T |
13: 67,256,121 (GRCm39) |
|
probably benign |
Het |
| Scara5 |
C |
A |
14: 65,968,314 (GRCm39) |
Q196K |
probably benign |
Het |
| Setd1b |
C |
T |
5: 123,301,210 (GRCm39) |
|
probably benign |
Het |
| Siah1a |
A |
G |
8: 87,451,869 (GRCm39) |
F205S |
probably damaging |
Het |
| Smr2 |
AT |
ATT |
5: 88,256,683 (GRCm39) |
|
probably null |
Het |
| Ssu72 |
A |
G |
4: 155,815,814 (GRCm39) |
D86G |
probably benign |
Het |
| St7 |
G |
T |
6: 17,886,110 (GRCm39) |
K357N |
probably damaging |
Het |
| Sv2b |
G |
A |
7: 74,797,425 (GRCm39) |
T323I |
probably damaging |
Het |
| Syt1 |
T |
C |
10: 108,340,361 (GRCm39) |
N319S |
probably benign |
Het |
| Tanc1 |
T |
A |
2: 59,621,995 (GRCm39) |
F371L |
probably damaging |
Het |
| Tcf20 |
C |
A |
15: 82,739,693 (GRCm39) |
G586V |
probably benign |
Het |
| Tg |
T |
C |
15: 66,601,534 (GRCm39) |
|
probably null |
Het |
| Tyk2 |
A |
T |
9: 21,026,758 (GRCm39) |
N620K |
probably benign |
Het |
| Ube2j1 |
T |
A |
4: 33,045,116 (GRCm39) |
S130T |
probably benign |
Het |
| Ubr2 |
G |
T |
17: 47,243,418 (GRCm39) |
P1696H |
probably damaging |
Het |
| Ubr5 |
A |
T |
15: 38,041,085 (GRCm39) |
D266E |
probably damaging |
Het |
| Vipr2 |
A |
G |
12: 116,107,892 (GRCm39) |
T426A |
probably benign |
Het |
| Vmn2r104 |
A |
T |
17: 20,262,477 (GRCm39) |
W218R |
probably damaging |
Het |
| Vmn2r83 |
T |
A |
10: 79,314,956 (GRCm39) |
N401K |
probably damaging |
Het |
| Vwf |
A |
G |
6: 125,632,214 (GRCm39) |
E82G |
unknown |
Het |
| Vwf |
T |
A |
6: 125,640,534 (GRCm39) |
Y2323* |
probably null |
Het |
| Wdr76 |
T |
G |
2: 121,359,402 (GRCm39) |
V329G |
probably damaging |
Het |
| Zan |
A |
G |
5: 137,460,214 (GRCm39) |
C1226R |
unknown |
Het |
| Zbtb16 |
G |
T |
9: 48,743,572 (GRCm39) |
Q247K |
probably damaging |
Het |
| Zfp541 |
T |
C |
7: 15,812,640 (GRCm39) |
V431A |
possibly 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 |
|
R1759:Aox3
|
UTSW |
1 |
58,209,805 (GRCm39) |
splice site |
probably null |
|
|
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'- TCTCACCTTCATGGGTAAGGCACG -3'
(R):5'- TGATTACGGTGGCACCAATCCCTC -3'
Sequencing Primer
(F):5'- gcattgtatcattggatcgttagg -3'
(R):5'- CTCCATATAAGATCCCCAAGTCTG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation