Incidental Mutation 'R8178:Aox3'
| ID |
634455 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aox3
|
| Ensembl Gene |
ENSMUSG00000064294 |
| Gene Name |
aldehyde oxidase 3 |
| Synonyms |
1200011D03Rik, AOH1 |
| MMRRC Submission |
067603-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8178 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
58152289-58239857 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 58189481 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 394
(D394V)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000040999
AA Change: D394V
PolyPhen 2
Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000049391
Gene: ENSMUSG00000064294
AA Change: D394V
| 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: 99.6%
- 20x: 99.0%
|
| Validation Efficiency |
99% (68/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921513D11Rik |
A |
G |
17: 79,935,699 (GRCm39) |
I276V |
|
Het |
| Acsm5 |
C |
A |
7: 119,141,618 (GRCm39) |
H538N |
probably damaging |
Het |
| Adamts17 |
A |
G |
7: 66,499,464 (GRCm39) |
I4V |
possibly damaging |
Het |
| Adgrg3 |
T |
C |
8: 95,761,675 (GRCm39) |
V146A |
probably damaging |
Het |
| Ankrd52 |
T |
A |
10: 128,225,170 (GRCm39) |
L877Q |
probably damaging |
Het |
| Arhgap45 |
G |
A |
10: 79,863,706 (GRCm39) |
A819T |
probably damaging |
Het |
| Arhgef4 |
A |
G |
1: 34,761,983 (GRCm39) |
E413G |
unknown |
Het |
| Arhgef5 |
T |
C |
6: 43,252,119 (GRCm39) |
S957P |
probably benign |
Het |
| Arsk |
G |
T |
13: 76,239,861 (GRCm39) |
T114K |
probably damaging |
Het |
| Bpifb2 |
T |
C |
2: 153,733,876 (GRCm39) |
V406A |
probably damaging |
Het |
| Cbr3 |
C |
A |
16: 93,480,393 (GRCm39) |
Q61K |
probably benign |
Het |
| Ccdc73 |
C |
T |
2: 104,821,557 (GRCm39) |
S502L |
probably benign |
Het |
| Cdhr3 |
A |
T |
12: 33,098,931 (GRCm39) |
|
probably null |
Het |
| Cep170b |
T |
A |
12: 112,705,719 (GRCm39) |
M1159K |
possibly damaging |
Het |
| Cep295 |
A |
T |
9: 15,244,836 (GRCm39) |
S1159T |
|
Het |
| Cit |
C |
T |
5: 116,107,131 (GRCm39) |
R1088W |
probably damaging |
Het |
| Col16a1 |
A |
T |
4: 129,947,270 (GRCm39) |
H205L |
unknown |
Het |
| Cpt1c |
T |
G |
7: 44,609,077 (GRCm39) |
H748P |
probably damaging |
Het |
| Cstdc4 |
T |
G |
16: 36,006,772 (GRCm39) |
Y35* |
probably null |
Het |
| Dcaf8 |
A |
T |
1: 172,013,886 (GRCm39) |
D359V |
probably benign |
Het |
| Dcstamp |
A |
G |
15: 39,618,422 (GRCm39) |
Y277C |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,832,790 (GRCm39) |
K898R |
probably benign |
Het |
| Dnah6 |
T |
A |
6: 73,037,208 (GRCm39) |
T3345S |
probably benign |
Het |
| Dpp6 |
A |
T |
5: 27,803,815 (GRCm39) |
N254Y |
probably damaging |
Het |
| F2 |
A |
T |
2: 91,460,618 (GRCm39) |
|
probably null |
Het |
| Fam216b |
G |
C |
14: 78,322,504 (GRCm39) |
H67D |
possibly damaging |
Het |
| Fbxl17 |
A |
C |
17: 63,794,967 (GRCm39) |
|
probably null |
Het |
| Gas2 |
T |
A |
7: 51,547,026 (GRCm39) |
M59K |
probably damaging |
Het |
| Glud1 |
G |
A |
14: 34,065,664 (GRCm39) |
G554D |
probably damaging |
Het |
| Gys2 |
C |
T |
6: 142,402,138 (GRCm39) |
G234R |
probably damaging |
Het |
| Ifngr1 |
A |
G |
10: 19,485,241 (GRCm39) |
I413M |
probably benign |
Het |
| Inpp5a |
C |
T |
7: 139,118,153 (GRCm39) |
R236C |
probably damaging |
Het |
| Kcnip3 |
A |
G |
2: 127,323,934 (GRCm39) |
S32P |
probably benign |
Het |
| Lingo3 |
T |
A |
10: 80,670,464 (GRCm39) |
T489S |
possibly damaging |
Het |
| Lrpprc |
A |
G |
17: 85,079,575 (GRCm39) |
L227P |
probably damaging |
Het |
| Morn1 |
A |
G |
4: 155,213,160 (GRCm39) |
Q356R |
probably benign |
Het |
| Naxd |
A |
C |
8: 11,561,987 (GRCm39) |
K275Q |
probably benign |
Het |
| Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
| Nck1 |
A |
T |
9: 100,379,790 (GRCm39) |
W154R |
probably damaging |
Het |
| Or10d5 |
G |
A |
9: 39,861,708 (GRCm39) |
R120C |
probably benign |
Het |
| Or1ad8 |
T |
A |
11: 50,898,437 (GRCm39) |
C213S |
probably damaging |
Het |
| Or5aq6 |
C |
T |
2: 86,923,220 (GRCm39) |
V174M |
possibly damaging |
Het |
| Or7e175 |
T |
C |
9: 20,048,571 (GRCm39) |
V53A |
possibly damaging |
Het |
| Pdxk |
C |
T |
10: 78,289,338 (GRCm39) |
V38M |
probably damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Pes1 |
T |
C |
11: 3,927,718 (GRCm39) |
S482P |
probably benign |
Het |
| Pglyrp1 |
T |
A |
7: 18,618,657 (GRCm39) |
F3I |
unknown |
Het |
| Pira13 |
T |
C |
7: 3,824,260 (GRCm39) |
K631R |
unknown |
Het |
| Plce1 |
T |
A |
19: 38,761,423 (GRCm39) |
F2092I |
possibly damaging |
Het |
| Pms1 |
A |
G |
1: 53,246,505 (GRCm39) |
S345P |
probably benign |
Het |
| Pom121l12 |
C |
A |
11: 14,550,011 (GRCm39) |
P239H |
probably damaging |
Het |
| Prdm2 |
A |
G |
4: 142,859,018 (GRCm39) |
I1424T |
probably benign |
Het |
| Prmt6 |
A |
G |
3: 110,158,140 (GRCm39) |
Y50H |
probably damaging |
Het |
| Rbm39 |
T |
C |
2: 155,996,195 (GRCm39) |
I397V |
probably benign |
Het |
| Rnf157 |
A |
G |
11: 116,238,307 (GRCm39) |
V519A |
possibly damaging |
Het |
| Sec23a |
T |
C |
12: 59,053,980 (GRCm39) |
E6G |
possibly damaging |
Het |
| Shank1 |
T |
C |
7: 43,962,748 (GRCm39) |
|
probably null |
Het |
| Slfn3 |
A |
G |
11: 83,105,505 (GRCm39) |
I378V |
probably benign |
Het |
| Smn1 |
T |
A |
13: 100,267,303 (GRCm39) |
|
probably null |
Het |
| Snd1 |
T |
C |
6: 28,874,975 (GRCm39) |
F632S |
possibly damaging |
Het |
| Sun5 |
T |
C |
2: 153,698,131 (GRCm39) |
|
probably null |
Het |
| Tial1 |
T |
C |
7: 128,046,614 (GRCm39) |
R209G |
probably benign |
Het |
| Trhde |
T |
C |
10: 114,244,598 (GRCm39) |
I963V |
possibly damaging |
Het |
| Tssc4 |
G |
T |
7: 142,623,932 (GRCm39) |
R80L |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,642,852 (GRCm39) |
N13261K |
probably damaging |
Het |
| Ugdh |
A |
T |
5: 65,581,005 (GRCm39) |
|
probably null |
Het |
| Vmn1r218 |
A |
T |
13: 23,321,472 (GRCm39) |
E273V |
probably benign |
Het |
| Vmn2r92 |
T |
A |
17: 18,386,988 (GRCm39) |
F109Y |
possibly damaging |
Het |
| Zcchc7 |
A |
G |
4: 44,931,398 (GRCm39) |
S196G |
probably benign |
Het |
| Zfp788 |
T |
A |
7: 41,298,335 (GRCm39) |
C324S |
probably damaging |
Het |
| Zfp976 |
T |
C |
7: 42,262,959 (GRCm39) |
T294A |
probably benign |
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 |
|
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 |
|
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'- AAGAGTAGCAATGGTCTAAGCC -3'
(R):5'- CCTCTGCATGCATAAGATATTTGTG -3'
Sequencing Primer
(F):5'- GGCATCAGATCTCATTACGGG -3'
(R):5'- AATTCTATGCTTCTCTATGCCAAAGC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation