Incidental Mutation 'R0135:Aox3'
| ID |
21847 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aox3
|
| Ensembl Gene |
ENSMUSG00000064294 |
| Gene Name |
aldehyde oxidase 3 |
| Synonyms |
1200011D03Rik, AOH1 |
| MMRRC Submission |
038420-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0135 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
58152289-58239857 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 58164247 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140140
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040999]
[ENSMUST00000162011]
|
| AlphaFold |
G3X982 |
| Predicted Effect |
probably benign
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: ENSMUST00000159014
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162011
|
| SMART Domains |
Protein: ENSMUSP00000140140
Gene: ENSMUSG00000064294
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Fer2
|
12 |
82 |
3.6e-8 |
PFAM |
|
Pfam:Fer2_2
|
91 |
166 |
2.5e-29 |
PFAM |
|
transmembrane domain
|
242 |
264 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.6%
|
| Validation Efficiency |
100% (80/80) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
A |
G |
16: 90,852,515 (GRCm39) |
F207S |
probably damaging |
Het |
| Abhd8 |
T |
A |
8: 71,910,718 (GRCm39) |
K363N |
probably benign |
Het |
| Adam11 |
T |
A |
11: 102,667,399 (GRCm39) |
V653E |
probably damaging |
Het |
| Adam18 |
T |
C |
8: 25,155,558 (GRCm39) |
S154G |
possibly damaging |
Het |
| Adamts1 |
T |
C |
16: 85,595,591 (GRCm39) |
|
probably benign |
Het |
| Afm |
G |
T |
5: 90,698,181 (GRCm39) |
V528L |
probably benign |
Het |
| Alox12b |
C |
T |
11: 69,053,574 (GRCm39) |
H145Y |
probably benign |
Het |
| Ankmy2 |
C |
A |
12: 36,220,434 (GRCm39) |
|
probably benign |
Het |
| Arhgap28 |
T |
C |
17: 68,171,583 (GRCm39) |
D396G |
probably damaging |
Het |
| B430203G13Rik |
T |
C |
12: 17,974,489 (GRCm39) |
|
noncoding transcript |
Het |
| Bean1 |
C |
T |
8: 104,943,807 (GRCm39) |
P121S |
probably damaging |
Het |
| Bok |
T |
C |
1: 93,614,229 (GRCm39) |
S21P |
probably damaging |
Het |
| Brwd1 |
A |
C |
16: 95,848,304 (GRCm39) |
N572K |
probably damaging |
Het |
| C5ar1 |
A |
T |
7: 15,982,864 (GRCm39) |
V52E |
probably damaging |
Het |
| Cblif |
G |
T |
19: 11,735,118 (GRCm39) |
C246F |
probably damaging |
Het |
| Cdr2l |
C |
A |
11: 115,284,497 (GRCm39) |
P278T |
probably damaging |
Het |
| Cnga4 |
T |
A |
7: 105,056,055 (GRCm39) |
I219N |
probably damaging |
Het |
| Cpne2 |
C |
T |
8: 95,281,553 (GRCm39) |
|
probably benign |
Het |
| D430041D05Rik |
A |
G |
2: 104,085,379 (GRCm39) |
S1057P |
possibly damaging |
Het |
| Def8 |
G |
A |
8: 124,183,234 (GRCm39) |
A278T |
probably damaging |
Het |
| Dgcr2 |
A |
G |
16: 17,676,306 (GRCm39) |
S152P |
probably damaging |
Het |
| Dstyk |
A |
T |
1: 132,390,672 (GRCm39) |
D828V |
probably damaging |
Het |
| Eml2 |
T |
C |
7: 18,937,877 (GRCm39) |
S582P |
probably damaging |
Het |
| Engase |
T |
C |
11: 118,375,304 (GRCm39) |
Y359H |
possibly damaging |
Het |
| Fat3 |
T |
C |
9: 15,918,073 (GRCm39) |
D1450G |
probably damaging |
Het |
| Fbxw8 |
A |
T |
5: 118,208,552 (GRCm39) |
I467N |
probably damaging |
Het |
| Fhdc1 |
A |
T |
3: 84,352,925 (GRCm39) |
Y767N |
probably damaging |
Het |
| Flii |
T |
C |
11: 60,614,204 (GRCm39) |
D105G |
probably damaging |
Het |
| Gaa |
C |
T |
11: 119,169,716 (GRCm39) |
T590I |
probably benign |
Het |
| Gabrr1 |
T |
A |
4: 33,160,224 (GRCm39) |
S303T |
probably damaging |
Het |
| Garre1 |
T |
C |
7: 33,945,382 (GRCm39) |
I499M |
probably damaging |
Het |
| Glp1r |
A |
G |
17: 31,143,551 (GRCm39) |
I196V |
probably benign |
Het |
| Grm6 |
G |
A |
11: 50,744,050 (GRCm39) |
E174K |
probably damaging |
Het |
| Helz2 |
A |
C |
2: 180,874,062 (GRCm39) |
L2144R |
probably damaging |
Het |
| Itpr1 |
A |
T |
6: 108,465,443 (GRCm39) |
|
probably benign |
Het |
| Kcns1 |
A |
T |
2: 164,006,875 (GRCm39) |
S363T |
possibly damaging |
Het |
| Kif13a |
A |
T |
13: 46,947,419 (GRCm39) |
V855E |
probably damaging |
Het |
| Krt42 |
T |
C |
11: 100,153,985 (GRCm39) |
T424A |
possibly damaging |
Het |
| Lct |
A |
T |
1: 128,212,860 (GRCm39) |
F1931Y |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 41,159,251 (GRCm39) |
V1563E |
probably damaging |
Het |
| Lrrc37 |
C |
A |
11: 103,508,873 (GRCm39) |
|
probably benign |
Het |
| Lzts2 |
T |
C |
19: 45,014,626 (GRCm39) |
|
probably benign |
Het |
| Mamdc4 |
C |
T |
2: 25,456,932 (GRCm39) |
R615Q |
possibly damaging |
Het |
| Mei1 |
C |
T |
15: 81,956,170 (GRCm39) |
Q133* |
probably null |
Het |
| Mif4gd |
T |
C |
11: 115,499,291 (GRCm39) |
E197G |
probably damaging |
Het |
| Ncdn |
A |
T |
4: 126,640,462 (GRCm39) |
S544T |
probably benign |
Het |
| Nfat5 |
C |
T |
8: 108,065,707 (GRCm39) |
R156W |
probably damaging |
Het |
| Or52a5 |
T |
A |
7: 103,426,970 (GRCm39) |
D194V |
probably damaging |
Het |
| Padi6 |
T |
C |
4: 140,464,663 (GRCm39) |
T114A |
probably benign |
Het |
| Pigk |
G |
T |
3: 152,450,343 (GRCm39) |
|
probably benign |
Het |
| Pkd1 |
T |
A |
17: 24,784,045 (GRCm39) |
F197Y |
possibly damaging |
Het |
| Pld5 |
A |
T |
1: 175,798,155 (GRCm39) |
F415I |
probably damaging |
Het |
| Pnpla5 |
A |
G |
15: 83,998,150 (GRCm39) |
L364P |
probably damaging |
Het |
| Prrc2c |
G |
A |
1: 162,543,052 (GRCm39) |
|
probably benign |
Het |
| Rab32 |
C |
T |
10: 10,426,584 (GRCm39) |
D121N |
probably damaging |
Het |
| Rab44 |
A |
T |
17: 29,357,106 (GRCm39) |
T79S |
probably benign |
Het |
| Reln |
G |
T |
5: 22,333,647 (GRCm39) |
N258K |
probably damaging |
Het |
| Retsat |
A |
G |
6: 72,579,755 (GRCm39) |
T177A |
probably damaging |
Het |
| Serpinf2 |
T |
A |
11: 75,327,219 (GRCm39) |
H236L |
probably damaging |
Het |
| Slc26a6 |
A |
T |
9: 108,737,794 (GRCm39) |
|
probably benign |
Het |
| Slitrk1 |
T |
A |
14: 109,149,061 (GRCm39) |
E550V |
probably benign |
Het |
| Smarcd3 |
A |
T |
5: 24,800,497 (GRCm39) |
|
probably benign |
Het |
| Spdye4a |
A |
C |
5: 143,210,857 (GRCm39) |
|
probably null |
Het |
| Susd2 |
C |
T |
10: 75,474,348 (GRCm39) |
G572D |
probably damaging |
Het |
| Tcaf3 |
C |
T |
6: 42,566,692 (GRCm39) |
R799K |
probably benign |
Het |
| Tg |
A |
G |
15: 66,566,719 (GRCm39) |
S1256G |
probably benign |
Het |
| Them4 |
A |
T |
3: 94,230,877 (GRCm39) |
|
probably benign |
Het |
| Tmem210 |
C |
T |
2: 25,178,480 (GRCm39) |
A47V |
probably damaging |
Het |
| Tnfrsf1b |
A |
G |
4: 144,955,616 (GRCm39) |
Y47H |
probably benign |
Het |
| Tnik |
T |
G |
3: 28,661,394 (GRCm39) |
N598K |
possibly damaging |
Het |
| Ttc3 |
A |
G |
16: 94,263,127 (GRCm39) |
N1498D |
possibly damaging |
Het |
| Ttll4 |
C |
A |
1: 74,719,087 (GRCm39) |
H313N |
possibly damaging |
Het |
| Vipr2 |
A |
G |
12: 116,106,447 (GRCm39) |
I348V |
probably benign |
Het |
| Vps13a |
A |
G |
19: 16,758,129 (GRCm39) |
V2A |
probably damaging |
Het |
| Vps72 |
G |
A |
3: 95,026,508 (GRCm39) |
R151K |
probably damaging |
Het |
| Zfp106 |
A |
G |
2: 120,350,968 (GRCm39) |
V1561A |
probably damaging |
Het |
| Zfp658 |
C |
A |
7: 43,223,019 (GRCm39) |
Y431* |
probably null |
Het |
| Zkscan2 |
T |
C |
7: 123,079,864 (GRCm39) |
K698E |
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 |
|
|
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'- ACCCACAAATCGGTCCTGAGTAGC -3'
(R):5'- TCACGGAGCAAGATGTTAGAATGGC -3'
Sequencing Primer
(F):5'- CGGTCCTGAGTAGCTTCTGATAAC -3'
(R):5'- CACGGCATTGTACTTTCCTTGAAG -3'
|
| Posted On |
2013-04-12 |
Incidental Mutation