Incidental Mutation 'R7039:Aox3'
ID |
546907 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aox3
|
Ensembl Gene |
ENSMUSG00000064294 |
Gene Name |
aldehyde oxidase 3 |
Synonyms |
1200011D03Rik, AOH1 |
MMRRC Submission |
045139-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7039 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
58152289-58239857 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 58215714 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 1049
(T1049A)
|
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: T1049A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000049391 Gene: ENSMUSG00000064294 AA Change: T1049A
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: 98.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl7b |
A |
T |
4: 56,741,022 (GRCm39) |
L112Q |
probably damaging |
Het |
Agap3 |
A |
C |
5: 24,688,399 (GRCm39) |
I396L |
probably benign |
Het |
AI987944 |
G |
T |
7: 41,023,880 (GRCm39) |
S366R |
probably benign |
Het |
Ap1g2 |
A |
T |
14: 55,340,111 (GRCm39) |
L407* |
probably null |
Het |
Baiap3 |
G |
A |
17: 25,462,814 (GRCm39) |
R1075C |
probably benign |
Het |
Brd3 |
T |
C |
2: 27,346,929 (GRCm39) |
K402E |
probably damaging |
Het |
Cc2d2b |
A |
T |
19: 40,790,845 (GRCm39) |
D935V |
probably damaging |
Het |
Cenpe |
A |
G |
3: 134,961,217 (GRCm39) |
N1904D |
probably benign |
Het |
Cfap74 |
G |
T |
4: 155,538,565 (GRCm39) |
|
probably null |
Het |
Chrdl2 |
A |
G |
7: 99,677,879 (GRCm39) |
T261A |
probably damaging |
Het |
Cyp4a14 |
G |
A |
4: 115,348,278 (GRCm39) |
R400C |
probably benign |
Het |
Dhfr |
G |
A |
13: 92,491,791 (GRCm39) |
V9I |
probably benign |
Het |
Epha4 |
A |
G |
1: 77,483,422 (GRCm39) |
S196P |
probably damaging |
Het |
Evc2 |
T |
A |
5: 37,579,232 (GRCm39) |
L1115Q |
probably damaging |
Het |
Fat3 |
T |
A |
9: 16,287,561 (GRCm39) |
E654V |
probably damaging |
Het |
Fcgbpl1 |
G |
A |
7: 27,839,573 (GRCm39) |
R462Q |
possibly damaging |
Het |
Fer1l4 |
C |
T |
2: 155,878,650 (GRCm39) |
V14I |
probably benign |
Het |
Frmd5 |
A |
T |
2: 121,378,128 (GRCm39) |
|
probably benign |
Het |
Helz |
T |
C |
11: 107,510,144 (GRCm39) |
|
probably null |
Het |
Igkv6-13 |
T |
C |
6: 70,434,498 (GRCm39) |
S116G |
probably benign |
Het |
Iscu |
T |
C |
5: 113,914,833 (GRCm39) |
V115A |
possibly damaging |
Het |
Jade2 |
C |
A |
11: 51,719,186 (GRCm39) |
K253N |
probably damaging |
Het |
Katnal2 |
A |
G |
18: 77,134,868 (GRCm39) |
|
probably null |
Het |
Kif13a |
C |
T |
13: 46,905,931 (GRCm39) |
V671M |
possibly damaging |
Het |
Magi3 |
T |
C |
3: 103,958,699 (GRCm39) |
D462G |
probably damaging |
Het |
Map3k14 |
T |
C |
11: 103,111,861 (GRCm39) |
N940S |
probably damaging |
Het |
Masp2 |
A |
T |
4: 148,687,043 (GRCm39) |
M1L |
probably benign |
Het |
Mga |
G |
A |
2: 119,763,159 (GRCm39) |
V1272I |
probably benign |
Het |
Mib2 |
T |
C |
4: 155,744,158 (GRCm39) |
D168G |
probably damaging |
Het |
Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
Msto1 |
A |
C |
3: 88,818,697 (GRCm39) |
V287G |
probably damaging |
Het |
Myo5b |
T |
A |
18: 74,834,599 (GRCm39) |
D886E |
probably benign |
Het |
Nek10 |
T |
C |
14: 14,826,946 (GRCm38) |
I48T |
possibly damaging |
Het |
Nek10 |
A |
T |
14: 14,986,700 (GRCm38) |
R1013W |
probably damaging |
Het |
Nipsnap3a |
T |
C |
4: 53,000,130 (GRCm39) |
V194A |
probably damaging |
Het |
Nlrp9a |
A |
T |
7: 26,267,367 (GRCm39) |
T766S |
probably benign |
Het |
Nol10 |
T |
A |
12: 17,479,185 (GRCm39) |
S672T |
possibly damaging |
Het |
Or4a80 |
A |
T |
2: 89,583,095 (GRCm39) |
F26I |
probably benign |
Het |
Or4c121 |
A |
T |
2: 89,023,790 (GRCm39) |
I196N |
probably damaging |
Het |
Or8d1b |
T |
A |
9: 38,887,283 (GRCm39) |
F104I |
probably damaging |
Het |
Or8j3c |
A |
T |
2: 86,253,177 (GRCm39) |
I281K |
possibly damaging |
Het |
Patj |
T |
A |
4: 98,457,315 (GRCm39) |
N1272K |
probably damaging |
Het |
Peak1 |
T |
C |
9: 56,165,093 (GRCm39) |
E945G |
probably benign |
Het |
Peg3 |
C |
T |
7: 6,720,858 (GRCm39) |
D16N |
probably damaging |
Het |
Pik3r4 |
T |
G |
9: 105,554,089 (GRCm39) |
I1082M |
possibly damaging |
Het |
Plekhg5 |
T |
A |
4: 152,192,242 (GRCm39) |
M472K |
possibly damaging |
Het |
Plekhm1 |
T |
C |
11: 103,286,054 (GRCm39) |
D127G |
probably damaging |
Het |
Ppfia4 |
G |
A |
1: 134,239,853 (GRCm39) |
S908L |
probably damaging |
Het |
Psmc3 |
A |
G |
2: 90,885,391 (GRCm39) |
N60S |
probably benign |
Het |
Rapgef1 |
T |
A |
2: 29,616,226 (GRCm39) |
D697E |
probably damaging |
Het |
Rapgef3 |
T |
A |
15: 97,659,449 (GRCm39) |
H54L |
probably benign |
Het |
Rhobtb3 |
G |
A |
13: 76,020,572 (GRCm39) |
R577* |
probably null |
Het |
Safb2 |
T |
C |
17: 56,871,594 (GRCm39) |
E218G |
possibly damaging |
Het |
Scaf1 |
C |
T |
7: 44,657,850 (GRCm39) |
R343H |
probably damaging |
Het |
Snx24 |
G |
A |
18: 53,473,307 (GRCm39) |
|
probably null |
Het |
Tbc1d1 |
T |
C |
5: 64,442,100 (GRCm39) |
F707L |
probably benign |
Het |
Tcaf2 |
T |
C |
6: 42,603,074 (GRCm39) |
T829A |
probably damaging |
Het |
Tcea2 |
C |
T |
2: 181,328,711 (GRCm39) |
Q248* |
probably null |
Het |
Tcirg1 |
A |
T |
19: 3,946,666 (GRCm39) |
L729Q |
probably damaging |
Het |
Thap3 |
A |
G |
4: 152,070,149 (GRCm39) |
F82L |
probably damaging |
Het |
Ttk |
T |
A |
9: 83,750,145 (GRCm39) |
M700K |
probably damaging |
Het |
Ubap2l |
G |
T |
3: 89,909,662 (GRCm39) |
P56H |
probably damaging |
Het |
Ubr2 |
A |
G |
17: 47,321,139 (GRCm39) |
S3P |
probably benign |
Het |
Uchl3 |
C |
T |
14: 101,923,128 (GRCm39) |
|
probably benign |
Het |
Vmn2r111 |
T |
A |
17: 22,767,165 (GRCm39) |
E777D |
probably damaging |
Het |
Vmn2r20 |
A |
T |
6: 123,363,082 (GRCm39) |
D567E |
probably damaging |
Het |
Vps13c |
T |
G |
9: 67,845,045 (GRCm39) |
L2043R |
probably damaging |
Het |
Zan |
T |
G |
5: 137,398,396 (GRCm39) |
D4212A |
unknown |
Het |
Zap70 |
C |
T |
1: 36,817,832 (GRCm39) |
P278S |
probably benign |
Het |
Zbtb8b |
A |
T |
4: 129,321,478 (GRCm39) |
M461K |
possibly damaging |
Het |
Zfat |
T |
G |
15: 68,052,211 (GRCm39) |
I528L |
probably benign |
Het |
Zfp532 |
T |
G |
18: 65,771,834 (GRCm39) |
V784G |
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 |
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'- ATTACTCTCACCTCGTTGAGCG -3'
(R):5'- CTTATAGCATGGCTAGAGGAGG -3'
Sequencing Primer
(F):5'- GAGAGCAAGCTAAGTTTCCACCAG -3'
(R):5'- CCACAAGCAAATGGATTTGTCTCTGG -3'
|
Posted On |
2019-05-13 |