Incidental Mutation 'R7709:Aox3'
| ID |
594427 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aox3
|
| Ensembl Gene |
ENSMUSG00000064294 |
| Gene Name |
aldehyde oxidase 3 |
| Synonyms |
1200011D03Rik, AOH1 |
| MMRRC Submission |
045768-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7709 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
58152289-58239857 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 58219810 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 1137
(Y1137H)
|
| 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 damaging
Transcript: ENSMUST00000040999
AA Change: Y1137H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000049391
Gene: ENSMUSG00000064294
AA Change: Y1137H
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
A |
G |
3: 124,201,334 (GRCm39) |
I443T |
probably damaging |
Het |
| 2310002L09Rik |
A |
G |
4: 73,861,091 (GRCm39) |
C170R |
possibly damaging |
Het |
| 4933415A04Rik |
GTGTGTGTGTATGTGTGTGT |
GTGTGTGTGT |
11: 43,478,237 (GRCm39) |
|
probably null |
Het |
| A2m |
A |
C |
6: 121,637,063 (GRCm39) |
T809P |
possibly damaging |
Het |
| Abca12 |
T |
C |
1: 71,374,887 (GRCm39) |
D340G |
probably benign |
Het |
| Abcg8 |
A |
T |
17: 84,999,919 (GRCm39) |
D191V |
probably damaging |
Het |
| Acan |
G |
T |
7: 78,739,356 (GRCm39) |
V255F |
probably damaging |
Het |
| Ace |
G |
A |
11: 105,879,663 (GRCm39) |
V1248I |
probably benign |
Het |
| Adgre1 |
A |
T |
17: 57,709,519 (GRCm39) |
Q87L |
unknown |
Het |
| Adgrl1 |
G |
A |
8: 84,665,617 (GRCm39) |
V1435M |
probably benign |
Het |
| Ano8 |
T |
C |
8: 71,934,933 (GRCm39) |
D423G |
probably damaging |
Het |
| Arl5a |
T |
C |
2: 52,295,068 (GRCm39) |
D114G |
probably benign |
Het |
| B3galt9 |
T |
G |
2: 34,728,437 (GRCm39) |
C79G |
probably damaging |
Het |
| Baiap2l2 |
G |
T |
15: 79,143,911 (GRCm39) |
N394K |
probably benign |
Het |
| Cap1 |
A |
T |
4: 122,756,467 (GRCm39) |
C355S |
probably damaging |
Het |
| Ccdc25 |
A |
T |
14: 66,077,933 (GRCm39) |
D22V |
probably damaging |
Het |
| Ceacam2 |
T |
C |
7: 25,238,076 (GRCm39) |
D116G |
probably damaging |
Het |
| Clec4b2 |
A |
G |
6: 123,149,974 (GRCm39) |
|
probably benign |
Het |
| CN725425 |
C |
A |
15: 91,124,930 (GRCm39) |
R157S |
probably benign |
Het |
| Coq8b |
T |
C |
7: 26,949,962 (GRCm39) |
I347T |
probably damaging |
Het |
| Ctbp2 |
C |
A |
7: 132,591,789 (GRCm39) |
V338L |
probably benign |
Het |
| Cyp2d22 |
A |
G |
15: 82,258,612 (GRCm39) |
V83A |
possibly damaging |
Het |
| Daam1 |
G |
A |
12: 72,024,423 (GRCm39) |
R797H |
probably benign |
Het |
| Dab1 |
C |
A |
4: 104,577,756 (GRCm39) |
S275* |
probably null |
Het |
| Dgkz |
T |
C |
2: 91,767,404 (GRCm39) |
E863G |
probably benign |
Het |
| Dhx34 |
G |
A |
7: 15,946,789 (GRCm39) |
A515V |
possibly damaging |
Het |
| Dnah14 |
T |
C |
1: 181,530,049 (GRCm39) |
|
probably null |
Het |
| Dnmt3b |
C |
A |
2: 153,514,140 (GRCm39) |
N384K |
probably benign |
Het |
| Dock5 |
A |
G |
14: 68,033,454 (GRCm39) |
Y972H |
probably benign |
Het |
| Etv5 |
A |
T |
16: 22,231,597 (GRCm39) |
Y138* |
probably null |
Het |
| Fdps |
A |
G |
3: 89,008,397 (GRCm39) |
S4P |
probably damaging |
Het |
| Gart |
A |
G |
16: 91,419,853 (GRCm39) |
F885L |
possibly damaging |
Het |
| Gm32687 |
A |
T |
10: 81,715,328 (GRCm39) |
H240L |
probably damaging |
Het |
| Gm4553 |
C |
T |
7: 141,719,384 (GRCm39) |
G15R |
unknown |
Het |
| Gm572 |
C |
T |
4: 148,753,408 (GRCm39) |
T351M |
probably damaging |
Het |
| Gpr3 |
A |
T |
4: 132,937,748 (GRCm39) |
L308Q |
probably damaging |
Het |
| Gpsm2 |
A |
G |
3: 108,609,097 (GRCm39) |
V174A |
probably benign |
Het |
| Gucy1a1 |
T |
C |
3: 82,002,096 (GRCm39) |
H661R |
unknown |
Het |
| Heatr4 |
A |
T |
12: 84,004,499 (GRCm39) |
M774K |
probably damaging |
Het |
| Hmgcr |
A |
G |
13: 96,799,605 (GRCm39) |
I163T |
possibly damaging |
Het |
| Ift81 |
C |
T |
5: 122,747,394 (GRCm39) |
V91M |
probably damaging |
Het |
| Igsf10 |
G |
T |
3: 59,238,964 (GRCm39) |
Q406K |
probably damaging |
Het |
| Il10ra |
A |
G |
9: 45,171,697 (GRCm39) |
V257A |
probably benign |
Het |
| Ina |
A |
T |
19: 47,012,082 (GRCm39) |
K500I |
|
Het |
| Lce1i |
A |
T |
3: 92,685,066 (GRCm39) |
C37S |
unknown |
Het |
| Lrrc59 |
A |
T |
11: 94,525,811 (GRCm39) |
D133V |
probably damaging |
Het |
| Magi3 |
A |
G |
3: 103,941,354 (GRCm39) |
I867T |
probably damaging |
Het |
| Mmaa |
T |
A |
8: 79,995,830 (GRCm39) |
R298W |
probably damaging |
Het |
| Mon1a |
G |
T |
9: 107,777,327 (GRCm39) |
V77F |
probably benign |
Het |
| Mrc2 |
A |
G |
11: 105,237,285 (GRCm39) |
T1030A |
probably benign |
Het |
| Mrps27 |
T |
A |
13: 99,541,504 (GRCm39) |
S162T |
probably benign |
Het |
| Mtmr12 |
T |
A |
15: 12,245,097 (GRCm39) |
M204K |
probably damaging |
Het |
| Mtus1 |
A |
G |
8: 41,507,687 (GRCm39) |
I21T |
possibly damaging |
Het |
| Myh2 |
T |
C |
11: 67,085,690 (GRCm39) |
V1844A |
probably benign |
Het |
| Myh7 |
C |
G |
14: 55,226,258 (GRCm39) |
D461H |
probably damaging |
Het |
| Nbr1 |
T |
G |
11: 101,447,067 (GRCm39) |
F18V |
probably damaging |
Het |
| Npy2r |
T |
C |
3: 82,447,689 (GRCm39) |
N362S |
probably benign |
Het |
| Ocln |
T |
A |
13: 100,676,106 (GRCm39) |
Y129F |
probably damaging |
Het |
| Or2t1 |
T |
C |
14: 14,328,384 (GRCm38) |
I91T |
probably damaging |
Het |
| Or4c10 |
T |
C |
2: 89,760,225 (GRCm39) |
I24T |
probably benign |
Het |
| Or8c20 |
A |
G |
9: 38,260,573 (GRCm39) |
M59V |
probably benign |
Het |
| Pik3c2b |
T |
G |
1: 133,007,579 (GRCm39) |
|
probably null |
Het |
| Prss39 |
A |
G |
1: 34,541,709 (GRCm39) |
D262G |
probably damaging |
Het |
| Ptk7 |
T |
A |
17: 46,882,569 (GRCm39) |
D886V |
possibly damaging |
Het |
| Ptprg |
T |
A |
14: 12,226,452 (GRCm38) |
D1348E |
probably damaging |
Het |
| Rabgap1 |
T |
C |
2: 37,427,339 (GRCm39) |
I640T |
possibly damaging |
Het |
| Rogdi |
A |
G |
16: 4,827,098 (GRCm39) |
Y303H |
probably damaging |
Het |
| Rps6kb1 |
A |
T |
11: 86,404,148 (GRCm39) |
M283K |
probably damaging |
Het |
| Sardh |
T |
A |
2: 27,131,529 (GRCm39) |
T188S |
possibly damaging |
Het |
| Sebox |
A |
G |
11: 78,394,919 (GRCm39) |
E87G |
probably damaging |
Het |
| Smchd1 |
A |
T |
17: 71,665,193 (GRCm39) |
M1830K |
probably damaging |
Het |
| Spata31h1 |
A |
C |
10: 82,126,366 (GRCm39) |
S2215A |
possibly damaging |
Het |
| Spink8 |
G |
A |
9: 109,645,848 (GRCm39) |
V7I |
probably benign |
Het |
| Src |
G |
A |
2: 157,299,164 (GRCm39) |
V54M |
probably benign |
Het |
| Taar2 |
A |
G |
10: 23,816,621 (GRCm39) |
I54V |
probably benign |
Het |
| Tpo |
A |
T |
12: 30,181,859 (GRCm39) |
V12E |
possibly damaging |
Het |
| Txk |
T |
C |
5: 72,864,918 (GRCm39) |
D373G |
probably damaging |
Het |
| Ubr5 |
G |
A |
15: 37,980,076 (GRCm39) |
A2434V |
probably null |
Het |
| Vil1 |
C |
T |
1: 74,465,754 (GRCm39) |
T515M |
probably benign |
Het |
| Wdr47 |
G |
T |
3: 108,525,837 (GRCm39) |
C120F |
probably damaging |
Het |
| Ylpm1 |
C |
T |
12: 85,059,799 (GRCm39) |
P335L |
unknown |
Het |
| Zfp148 |
T |
A |
16: 33,288,545 (GRCm39) |
I220N |
probably damaging |
Het |
| Zfp992 |
A |
T |
4: 146,551,622 (GRCm39) |
K448* |
probably null |
Het |
| Zfp994 |
T |
C |
17: 22,419,406 (GRCm39) |
I514M |
probably benign |
Het |
| Zp2 |
A |
T |
7: 119,734,998 (GRCm39) |
I429N |
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 |
|
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 |
|
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'- ACTCACCTGACAGTATGCTCC -3'
(R):5'- ATTGCATTTAGGAAACTGTGGGAC -3'
Sequencing Primer
(F):5'- GCTCCATATTCATCTTGCAAAGAC -3'
(R):5'- TAGGAAACTGTGGGACTCATCTC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation