Incidental Mutation 'R1438:Aox3'
ID |
160743 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aox3
|
Ensembl Gene |
ENSMUSG00000064294 |
Gene Name |
aldehyde oxidase 3 |
Synonyms |
1200011D03Rik, AOH1 |
MMRRC Submission |
039493-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1438 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
58152289-58239857 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 58192337 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 536
(T536S)
|
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: T536S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000049391 Gene: ENSMUSG00000064294 AA Change: T536S
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: 98.9%
- 3x: 97.9%
- 10x: 94.7%
- 20x: 87.3%
|
Validation Efficiency |
99% (80/81) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl6b |
A |
T |
5: 137,552,871 (GRCm39) |
I67F |
probably damaging |
Het |
Adam24 |
A |
T |
8: 41,134,431 (GRCm39) |
N633I |
probably benign |
Het |
Adgrg6 |
T |
C |
10: 14,344,585 (GRCm39) |
S123G |
possibly damaging |
Het |
Afdn |
T |
A |
17: 14,075,652 (GRCm39) |
F940L |
probably damaging |
Het |
Ahrr |
A |
T |
13: 74,372,987 (GRCm39) |
Y26* |
probably null |
Het |
Akap1 |
C |
A |
11: 88,735,577 (GRCm39) |
G362* |
probably null |
Het |
Boc |
A |
T |
16: 44,309,109 (GRCm39) |
|
probably null |
Het |
Cchcr1 |
T |
C |
17: 35,841,457 (GRCm39) |
|
probably null |
Het |
Cct2 |
A |
T |
10: 116,890,897 (GRCm39) |
|
probably benign |
Het |
Cd84 |
A |
T |
1: 171,679,685 (GRCm39) |
Y121F |
probably damaging |
Het |
Cecr2 |
T |
A |
6: 120,738,433 (GRCm39) |
C275* |
probably null |
Het |
Chchd3 |
C |
A |
6: 32,985,503 (GRCm39) |
|
probably benign |
Het |
Ckmt2 |
A |
T |
13: 92,007,971 (GRCm39) |
|
probably benign |
Het |
Col5a3 |
T |
C |
9: 20,691,253 (GRCm39) |
K1131E |
probably damaging |
Het |
Dek |
A |
T |
13: 47,241,647 (GRCm39) |
S306T |
probably benign |
Het |
Dhx32 |
T |
C |
7: 133,339,069 (GRCm39) |
E322G |
possibly damaging |
Het |
Dlg5 |
T |
A |
14: 24,204,673 (GRCm39) |
D941V |
possibly damaging |
Het |
Dnah10 |
A |
G |
5: 124,876,009 (GRCm39) |
N2559S |
probably benign |
Het |
Dnajc3 |
A |
G |
14: 119,205,518 (GRCm39) |
T171A |
probably benign |
Het |
Eftud2 |
G |
T |
11: 102,750,868 (GRCm39) |
F308L |
probably damaging |
Het |
Elp6 |
T |
C |
9: 110,143,123 (GRCm39) |
F95S |
probably damaging |
Het |
Emsy |
C |
T |
7: 98,270,613 (GRCm39) |
V450I |
possibly damaging |
Het |
Exoc3 |
A |
T |
13: 74,338,298 (GRCm39) |
M362K |
probably damaging |
Het |
Fat2 |
A |
T |
11: 55,178,637 (GRCm39) |
D1474E |
probably damaging |
Het |
Fcgbp |
T |
A |
7: 27,803,158 (GRCm39) |
C1587* |
probably null |
Het |
Fosl2 |
T |
A |
5: 32,304,329 (GRCm39) |
L88Q |
probably damaging |
Het |
Fsd2 |
T |
C |
7: 81,198,621 (GRCm39) |
D381G |
probably benign |
Het |
Golim4 |
A |
C |
3: 75,863,440 (GRCm39) |
S56A |
probably damaging |
Het |
Gpr39 |
T |
C |
1: 125,800,093 (GRCm39) |
|
probably benign |
Het |
Gucy1b2 |
T |
C |
14: 62,651,770 (GRCm39) |
I409V |
probably damaging |
Het |
Hivep1 |
A |
G |
13: 42,311,596 (GRCm39) |
T1279A |
probably benign |
Het |
Ifit1bl2 |
T |
A |
19: 34,596,569 (GRCm39) |
Q349L |
possibly damaging |
Het |
Kcnc1 |
A |
T |
7: 46,077,691 (GRCm39) |
I498F |
possibly damaging |
Het |
Kctd21 |
T |
A |
7: 96,996,704 (GRCm39) |
I59N |
probably damaging |
Het |
Lama5 |
T |
A |
2: 179,824,593 (GRCm39) |
T2577S |
probably benign |
Het |
Mief2 |
G |
T |
11: 60,621,140 (GRCm39) |
R9M |
possibly damaging |
Het |
Mmp3 |
T |
C |
9: 7,453,705 (GRCm39) |
V442A |
probably benign |
Het |
Nkapd1 |
C |
A |
9: 50,518,972 (GRCm39) |
K213N |
possibly damaging |
Het |
Nrxn3 |
C |
T |
12: 90,298,909 (GRCm39) |
R477W |
probably damaging |
Het |
Or12e7 |
A |
G |
2: 87,288,336 (GRCm39) |
T276A |
probably benign |
Het |
Or7a41 |
T |
A |
10: 78,871,122 (GRCm39) |
V164E |
possibly damaging |
Het |
Parp1 |
A |
G |
1: 180,418,807 (GRCm39) |
T656A |
probably benign |
Het |
Pcdhb19 |
A |
G |
18: 37,631,015 (GRCm39) |
D270G |
probably damaging |
Het |
Phlpp1 |
A |
G |
1: 106,101,142 (GRCm39) |
D470G |
possibly damaging |
Het |
Prdm1 |
T |
C |
10: 44,318,124 (GRCm39) |
E248G |
probably benign |
Het |
Prtg |
C |
T |
9: 72,818,032 (GRCm39) |
|
probably benign |
Het |
Ptpn1 |
T |
C |
2: 167,818,529 (GRCm39) |
Y424H |
probably damaging |
Het |
Ptprr |
T |
C |
10: 116,092,109 (GRCm39) |
V369A |
probably damaging |
Het |
Rai1 |
T |
G |
11: 60,076,221 (GRCm39) |
V95G |
probably benign |
Het |
Rasal3 |
T |
A |
17: 32,612,509 (GRCm39) |
|
probably null |
Het |
Rbm19 |
A |
G |
5: 120,260,961 (GRCm39) |
E195G |
probably benign |
Het |
Rhbdd3 |
T |
A |
11: 5,053,332 (GRCm39) |
L44Q |
probably damaging |
Het |
Ripply2 |
T |
C |
9: 86,901,713 (GRCm39) |
W80R |
probably damaging |
Het |
Rnf183 |
A |
G |
4: 62,346,760 (GRCm39) |
C13R |
probably damaging |
Het |
Rorb |
A |
G |
19: 18,932,417 (GRCm39) |
L367P |
probably damaging |
Het |
Rpl7a-ps5 |
C |
T |
17: 58,146,135 (GRCm39) |
|
probably benign |
Het |
Rreb1 |
A |
G |
13: 38,114,581 (GRCm39) |
N647D |
probably benign |
Het |
Rtn1 |
A |
T |
12: 72,351,187 (GRCm39) |
S341T |
probably damaging |
Het |
Ryr3 |
T |
C |
2: 112,588,046 (GRCm39) |
S2632G |
probably benign |
Het |
Scube1 |
A |
G |
15: 83,499,227 (GRCm39) |
C633R |
possibly damaging |
Het |
Sdk1 |
A |
T |
5: 142,024,078 (GRCm39) |
I723F |
probably damaging |
Het |
Sec23a |
A |
T |
12: 59,048,796 (GRCm39) |
C109S |
probably damaging |
Het |
Septin11 |
T |
C |
5: 93,296,287 (GRCm39) |
F60L |
probably damaging |
Het |
Sgf29 |
G |
A |
7: 126,271,063 (GRCm39) |
|
probably null |
Het |
Skint5 |
A |
G |
4: 113,413,308 (GRCm39) |
|
probably benign |
Het |
Smo |
G |
A |
6: 29,755,482 (GRCm39) |
V385I |
possibly damaging |
Het |
Tada2a |
G |
A |
11: 84,000,837 (GRCm39) |
T76I |
probably damaging |
Het |
Tas2r118 |
T |
A |
6: 23,969,422 (GRCm39) |
H213L |
possibly damaging |
Het |
Thoc5 |
A |
T |
11: 4,861,427 (GRCm39) |
|
probably benign |
Het |
Tmem33 |
T |
A |
5: 67,424,634 (GRCm39) |
|
probably null |
Het |
Top1mt |
A |
G |
15: 75,546,247 (GRCm39) |
L78P |
probably damaging |
Het |
Uvssa |
T |
A |
5: 33,571,228 (GRCm39) |
|
probably benign |
Het |
Vmn2r50 |
A |
T |
7: 9,784,062 (GRCm39) |
C137* |
probably null |
Het |
Vmn2r81 |
A |
G |
10: 79,129,691 (GRCm39) |
T861A |
probably benign |
Het |
Wnt3 |
A |
T |
11: 103,699,077 (GRCm39) |
N61I |
probably damaging |
Het |
Zswim9 |
A |
G |
7: 13,011,144 (GRCm39) |
I68T |
possibly damaging |
Het |
Zzef1 |
T |
C |
11: 72,803,771 (GRCm39) |
I2535T |
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 |
|
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 |
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'- GGCAACTGATCTGACTGGCTAAGG -3'
(R):5'- TTGCCGCAGCATCTCTGATGAC -3'
Sequencing Primer
(F):5'- TGGAGTATAGCTCTTGAGTAAGCAC -3'
(R):5'- AGTTTGAGCAAACTTGAGAGC -3'
|
Posted On |
2014-03-14 |