Incidental Mutation 'R0071:Aox3'
ID |
43823 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aox3
|
Ensembl Gene |
ENSMUSG00000064294 |
Gene Name |
aldehyde oxidase 3 |
Synonyms |
1200011D03Rik, AOH1 |
MMRRC Submission |
038362-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0071 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
58152289-58239857 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 58211050 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 931
(C931*)
|
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
AA Change: C931*
|
SMART Domains |
Protein: ENSMUSP00000049391 Gene: ENSMUSG00000064294 AA Change: C931*
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
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.2%
|
Validation Efficiency |
99% (78/79) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930474N05Rik |
A |
G |
14: 35,812,746 (GRCm39) |
|
probably benign |
Het |
Acot12 |
T |
C |
13: 91,929,293 (GRCm39) |
|
probably benign |
Het |
Acrbp |
T |
C |
6: 125,027,915 (GRCm39) |
|
probably benign |
Het |
Amotl1 |
G |
A |
9: 14,460,069 (GRCm39) |
A890V |
probably benign |
Het |
Apob |
T |
A |
12: 8,052,111 (GRCm39) |
V1184E |
probably damaging |
Het |
Arhgap44 |
A |
T |
11: 64,902,721 (GRCm39) |
L582Q |
possibly damaging |
Het |
Bbx |
C |
T |
16: 50,100,755 (GRCm39) |
E47K |
probably benign |
Het |
Bccip |
A |
G |
7: 133,315,960 (GRCm39) |
D72G |
probably damaging |
Het |
Bckdha |
A |
T |
7: 25,329,868 (GRCm39) |
|
probably null |
Het |
Bmerb1 |
A |
G |
16: 13,906,818 (GRCm39) |
D11G |
probably damaging |
Het |
Cald1 |
C |
T |
6: 34,735,069 (GRCm39) |
|
probably benign |
Het |
Cby2 |
A |
G |
14: 75,821,621 (GRCm39) |
S44P |
probably benign |
Het |
Cdk11b |
T |
C |
4: 155,733,880 (GRCm39) |
|
probably benign |
Het |
Cebpe |
G |
T |
14: 54,948,061 (GRCm39) |
R261S |
probably damaging |
Het |
Cep95 |
C |
T |
11: 106,681,554 (GRCm39) |
|
probably benign |
Het |
Chi3l1 |
T |
C |
1: 134,113,017 (GRCm39) |
Y150H |
probably benign |
Het |
Chrnd |
T |
C |
1: 87,120,559 (GRCm39) |
|
probably benign |
Het |
Clec4g |
T |
A |
8: 3,767,489 (GRCm39) |
|
probably benign |
Het |
Cog2 |
T |
C |
8: 125,275,407 (GRCm39) |
|
probably benign |
Het |
Coro7 |
A |
T |
16: 4,488,391 (GRCm39) |
L93Q |
probably damaging |
Het |
Csmd3 |
T |
C |
15: 47,460,217 (GRCm39) |
T3525A |
probably benign |
Het |
Ctsc |
G |
A |
7: 87,957,357 (GRCm39) |
|
probably benign |
Het |
Dnajc16 |
T |
C |
4: 141,495,318 (GRCm39) |
T467A |
probably benign |
Het |
Dnmt1 |
G |
A |
9: 20,819,916 (GRCm39) |
T1409I |
probably damaging |
Het |
Fam227b |
T |
A |
2: 125,965,994 (GRCm39) |
N144Y |
probably benign |
Het |
Fam83h |
A |
G |
15: 75,874,377 (GRCm39) |
S987P |
probably benign |
Het |
Fhod1 |
A |
T |
8: 106,063,857 (GRCm39) |
|
probably null |
Het |
Folr1 |
A |
G |
7: 101,513,130 (GRCm39) |
|
probably null |
Het |
Glis3 |
C |
T |
19: 28,241,255 (GRCm39) |
|
probably benign |
Het |
Gm10069 |
T |
C |
6: 128,449,688 (GRCm39) |
|
noncoding transcript |
Het |
Golgb1 |
G |
A |
16: 36,735,865 (GRCm39) |
R1704Q |
probably benign |
Het |
Gpr158 |
C |
A |
2: 21,815,479 (GRCm39) |
T624K |
probably benign |
Het |
Helz2 |
T |
C |
2: 180,878,200 (GRCm39) |
Y866C |
probably damaging |
Het |
Itpkb |
T |
A |
1: 180,160,330 (GRCm39) |
V152E |
probably damaging |
Het |
Kcnma1 |
C |
T |
14: 23,576,835 (GRCm39) |
R236H |
probably damaging |
Het |
Klhl32 |
A |
G |
4: 24,743,907 (GRCm39) |
V88A |
probably damaging |
Het |
Lct |
C |
T |
1: 128,219,755 (GRCm39) |
W1631* |
probably null |
Het |
Lipa |
T |
A |
19: 34,472,482 (GRCm39) |
K313M |
probably damaging |
Het |
Ly75 |
T |
C |
2: 60,152,163 (GRCm39) |
K1130R |
probably benign |
Het |
Mamdc2 |
C |
A |
19: 23,280,994 (GRCm39) |
E685* |
probably null |
Het |
Mdm1 |
A |
G |
10: 117,982,701 (GRCm39) |
E112G |
probably damaging |
Het |
Metrnl |
A |
T |
11: 121,606,826 (GRCm39) |
M212L |
probably benign |
Het |
Mettl2 |
A |
G |
11: 105,022,468 (GRCm39) |
|
probably benign |
Het |
Mxd3 |
A |
T |
13: 55,477,449 (GRCm39) |
L11Q |
probably damaging |
Het |
Myo7a |
A |
T |
7: 97,706,037 (GRCm39) |
Y1836N |
probably damaging |
Het |
Nsun7 |
A |
G |
5: 66,421,388 (GRCm39) |
Y118C |
probably benign |
Het |
Obscn |
G |
A |
11: 58,955,027 (GRCm39) |
T3962M |
possibly damaging |
Het |
Or13a20 |
A |
T |
7: 140,232,170 (GRCm39) |
I93F |
probably benign |
Het |
Or2d36 |
A |
G |
7: 106,746,919 (GRCm39) |
Y132C |
probably damaging |
Het |
Or5k3 |
C |
A |
16: 58,969,578 (GRCm39) |
R122S |
probably benign |
Het |
Osbpl11 |
T |
C |
16: 33,034,708 (GRCm39) |
|
probably benign |
Het |
Pcdhb22 |
A |
T |
18: 37,653,131 (GRCm39) |
D276V |
probably damaging |
Het |
Pik3cb |
A |
T |
9: 98,926,918 (GRCm39) |
D886E |
probably benign |
Het |
Pkhd1 |
T |
A |
1: 20,271,568 (GRCm39) |
Y2995F |
probably benign |
Het |
Raver2 |
C |
T |
4: 100,977,642 (GRCm39) |
|
probably benign |
Het |
Rhbdf1 |
A |
G |
11: 32,160,498 (GRCm39) |
L684P |
probably damaging |
Het |
Rufy2 |
C |
A |
10: 62,824,946 (GRCm39) |
L75M |
possibly damaging |
Het |
Sec22c |
A |
G |
9: 121,521,979 (GRCm39) |
F44L |
probably damaging |
Het |
Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
Serpina1a |
T |
C |
12: 103,822,002 (GRCm39) |
K310R |
probably benign |
Het |
Shoc1 |
A |
G |
4: 59,059,643 (GRCm39) |
Y1006H |
possibly damaging |
Het |
Sobp |
A |
G |
10: 43,033,993 (GRCm39) |
L111P |
probably damaging |
Het |
Sparcl1 |
G |
T |
5: 104,233,707 (GRCm39) |
Y547* |
probably null |
Het |
Spata31d1b |
G |
A |
13: 59,863,163 (GRCm39) |
A104T |
probably benign |
Het |
Spsb3 |
A |
G |
17: 25,106,878 (GRCm39) |
D184G |
probably damaging |
Het |
Sptan1 |
A |
T |
2: 29,893,354 (GRCm39) |
K1148* |
probably null |
Het |
Tdrd12 |
A |
G |
7: 35,228,671 (GRCm39) |
V17A |
possibly damaging |
Het |
Tlr9 |
A |
G |
9: 106,100,777 (GRCm39) |
T23A |
probably benign |
Het |
Tra2b |
A |
T |
16: 22,073,151 (GRCm39) |
|
probably benign |
Het |
Tspan15 |
A |
G |
10: 62,038,849 (GRCm39) |
|
probably benign |
Het |
Ttc41 |
A |
G |
10: 86,572,710 (GRCm39) |
N694S |
probably benign |
Het |
Ttn |
T |
G |
2: 76,597,813 (GRCm39) |
D19700A |
probably damaging |
Het |
Ube3b |
G |
A |
5: 114,557,558 (GRCm39) |
G1014D |
probably damaging |
Het |
Unc5d |
A |
G |
8: 29,209,854 (GRCm39) |
V422A |
possibly damaging |
Het |
Vmn2r80 |
C |
T |
10: 79,007,566 (GRCm39) |
T514I |
possibly damaging |
Het |
Zfp595 |
T |
C |
13: 67,464,917 (GRCm39) |
K452E |
possibly damaging |
Het |
Zfp607a |
A |
G |
7: 27,577,694 (GRCm39) |
K255E |
probably damaging |
Het |
Zxdc |
T |
G |
6: 90,347,398 (GRCm39) |
V253G |
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 |
|
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 |
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'- TCTGGTTGTGCCAAGAACGGAG -3'
(R):5'- ACCCTAAAGAGATGGGCCATAGACG -3'
Sequencing Primer
(F):5'- ATACACCTCAGCAGAGTTTGTC -3'
(R):5'- GATGGGCCATAGACGATCAC -3'
|
Posted On |
2013-05-29 |