Incidental Mutation 'R7664:Aox3'
ID |
591754 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aox3
|
Ensembl Gene |
ENSMUSG00000064294 |
Gene Name |
aldehyde oxidase 3 |
Synonyms |
1200011D03Rik, AOH1 |
MMRRC Submission |
045704-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7664 (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 G
at 58158698 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 90
(T90A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049391
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040999]
[ENSMUST00000162011]
|
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: T90A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000049391 Gene: ENSMUSG00000064294 AA Change: T90A
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 |
probably damaging
Transcript: ENSMUST00000162011
AA Change: T90A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140140 Gene: ENSMUSG00000064294 AA Change: T90A
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
99% (83/84) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 86 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
C |
T |
11: 84,136,175 (GRCm39) |
T510I |
probably damaging |
Het |
Akap12 |
G |
T |
10: 4,303,748 (GRCm39) |
W291L |
probably damaging |
Het |
Akip1 |
A |
T |
7: 109,308,187 (GRCm39) |
I152F |
probably benign |
Het |
Alpk2 |
T |
A |
18: 65,440,073 (GRCm39) |
Y440F |
probably benign |
Het |
Arhgef18 |
A |
T |
8: 3,436,390 (GRCm39) |
E228V |
probably damaging |
Het |
B4galnt4 |
A |
G |
7: 140,647,626 (GRCm39) |
K405E |
probably damaging |
Het |
BC034090 |
T |
C |
1: 155,117,377 (GRCm39) |
E247G |
probably damaging |
Het |
Camkk2 |
A |
T |
5: 122,894,645 (GRCm39) |
F216I |
unknown |
Het |
Carm1 |
A |
C |
9: 21,498,286 (GRCm39) |
K430T |
probably benign |
Het |
Ccdc13 |
A |
G |
9: 121,643,279 (GRCm39) |
V374A |
probably benign |
Het |
Cdh26 |
T |
A |
2: 178,111,835 (GRCm39) |
M465K |
probably benign |
Het |
Ceacam10 |
A |
T |
7: 24,477,757 (GRCm39) |
M91L |
probably benign |
Het |
Chrnb1 |
T |
C |
11: 69,677,850 (GRCm39) |
T301A |
possibly damaging |
Het |
Clec4a3 |
A |
G |
6: 122,943,381 (GRCm39) |
D101G |
probably benign |
Het |
Cmss1 |
G |
A |
16: 57,138,310 (GRCm39) |
P59S |
probably benign |
Het |
Crhr1 |
T |
A |
11: 104,059,968 (GRCm39) |
F138L |
probably benign |
Het |
Cxcl5 |
A |
T |
5: 90,907,890 (GRCm39) |
I107F |
probably damaging |
Het |
Cxcr1 |
A |
G |
1: 74,231,834 (GRCm39) |
S63P |
probably damaging |
Het |
Cxcr5 |
A |
G |
9: 44,424,607 (GRCm39) |
L350P |
probably benign |
Het |
D5Ertd579e |
A |
T |
5: 36,771,961 (GRCm39) |
H811Q |
probably benign |
Het |
Ddx46 |
T |
G |
13: 55,806,864 (GRCm39) |
I499S |
probably damaging |
Het |
Ddx51 |
T |
G |
5: 110,804,785 (GRCm39) |
|
probably null |
Het |
Dnaja1 |
C |
T |
4: 40,724,090 (GRCm39) |
P84S |
probably benign |
Het |
Dnajc27 |
A |
G |
12: 4,153,132 (GRCm39) |
K203E |
possibly damaging |
Het |
Fam107b |
T |
A |
2: 3,571,747 (GRCm39) |
C24S |
probably damaging |
Het |
Fancg |
T |
C |
4: 43,010,066 (GRCm39) |
K11R |
probably benign |
Het |
Fnip1 |
T |
C |
11: 54,356,951 (GRCm39) |
L44P |
probably damaging |
Het |
Fthl17b |
C |
T |
X: 8,829,043 (GRCm39) |
R9Q |
possibly damaging |
Het |
Fthl17b |
C |
T |
X: 8,829,047 (GRCm39) |
V8M |
possibly damaging |
Het |
Heca |
A |
T |
10: 17,778,118 (GRCm39) |
L493Q |
probably damaging |
Het |
Hrh2 |
C |
T |
13: 54,368,875 (GRCm39) |
P284S |
probably damaging |
Het |
Ifnar1 |
C |
G |
16: 91,292,082 (GRCm39) |
A141G |
probably damaging |
Het |
Igkv6-32 |
T |
A |
6: 70,051,282 (GRCm39) |
T25S |
probably damaging |
Het |
Inppl1 |
T |
C |
7: 101,479,304 (GRCm39) |
H525R |
probably damaging |
Het |
Itga2b |
A |
G |
11: 102,351,666 (GRCm39) |
L553P |
probably damaging |
Het |
Itgbl1 |
A |
G |
14: 124,083,962 (GRCm39) |
Y280C |
probably damaging |
Het |
Kap |
T |
C |
6: 133,828,920 (GRCm39) |
I54V |
probably benign |
Het |
Kcnh4 |
G |
T |
11: 100,641,148 (GRCm39) |
L434M |
probably damaging |
Het |
Klhl14 |
T |
C |
18: 21,687,706 (GRCm39) |
D572G |
probably damaging |
Het |
Klhl41 |
T |
A |
2: 69,501,061 (GRCm39) |
L174Q |
probably damaging |
Het |
Lrp2 |
T |
G |
2: 69,337,076 (GRCm39) |
H1232P |
probably damaging |
Het |
Lyar |
A |
G |
5: 38,388,161 (GRCm39) |
E229G |
probably benign |
Het |
Mark4 |
A |
T |
7: 19,177,151 (GRCm39) |
L226Q |
probably damaging |
Het |
Mcm8 |
A |
G |
2: 132,685,453 (GRCm39) |
K823R |
probably damaging |
Het |
Mfsd6 |
A |
T |
1: 52,748,212 (GRCm39) |
S218T |
probably benign |
Het |
Mlip |
A |
T |
9: 77,045,828 (GRCm39) |
I884N |
possibly damaging |
Het |
Mmrn1 |
A |
G |
6: 60,953,689 (GRCm39) |
T657A |
probably benign |
Het |
Morc2b |
A |
G |
17: 33,355,376 (GRCm39) |
Y799H |
probably benign |
Het |
Muc16 |
A |
T |
9: 18,519,018 (GRCm39) |
I6304N |
probably benign |
Het |
Mug1 |
C |
A |
6: 121,838,179 (GRCm39) |
H470N |
possibly damaging |
Het |
Naaladl2 |
T |
C |
3: 24,112,303 (GRCm39) |
Y593C |
probably damaging |
Het |
Ncor1 |
T |
C |
11: 62,289,154 (GRCm39) |
E341G |
probably damaging |
Het |
Nrg1 |
G |
T |
8: 32,499,169 (GRCm39) |
|
probably null |
Het |
Nudt3 |
A |
G |
17: 27,842,149 (GRCm39) |
L4P |
probably benign |
Het |
Odf2l |
T |
A |
3: 144,854,345 (GRCm39) |
H493Q |
probably benign |
Het |
Ost4 |
A |
C |
5: 31,065,007 (GRCm39) |
|
probably null |
Het |
Patj |
A |
T |
4: 98,385,187 (GRCm39) |
Q840L |
possibly damaging |
Het |
Pcdh20 |
T |
A |
14: 88,706,803 (GRCm39) |
T166S |
probably benign |
Het |
Pcdhb4 |
T |
A |
18: 37,442,293 (GRCm39) |
D534E |
probably damaging |
Het |
Pik3ap1 |
T |
C |
19: 41,310,069 (GRCm39) |
D417G |
possibly damaging |
Het |
Ppwd1 |
A |
T |
13: 104,356,798 (GRCm39) |
V239E |
probably damaging |
Het |
Prdm9 |
T |
A |
17: 15,775,833 (GRCm39) |
Y206F |
probably damaging |
Het |
Ranbp6 |
A |
G |
19: 29,789,476 (GRCm39) |
V292A |
possibly damaging |
Het |
Rgs21 |
T |
A |
1: 144,416,987 (GRCm39) |
M22L |
probably benign |
Het |
Rnf17 |
A |
T |
14: 56,676,335 (GRCm39) |
I399F |
probably damaging |
Het |
Rph3a |
T |
A |
5: 121,099,339 (GRCm39) |
Q184L |
probably benign |
Het |
Scrn3 |
T |
C |
2: 73,149,714 (GRCm39) |
Y137H |
possibly damaging |
Het |
Sec14l4 |
C |
A |
11: 3,994,178 (GRCm39) |
Y342* |
probably null |
Het |
Serpinb11 |
G |
A |
1: 107,307,718 (GRCm39) |
G383D |
probably damaging |
Het |
Sf3b1 |
A |
G |
1: 55,026,626 (GRCm39) |
V1261A |
probably damaging |
Het |
Sh3tc2 |
C |
T |
18: 62,148,042 (GRCm39) |
Q1251* |
probably null |
Het |
Skor1 |
A |
T |
9: 63,049,045 (GRCm39) |
D845E |
probably benign |
Het |
Slc39a7 |
A |
G |
17: 34,248,551 (GRCm39) |
L364P |
probably damaging |
Het |
Snrpn |
T |
C |
7: 59,637,239 (GRCm39) |
I26V |
probably benign |
Het |
Snx5 |
A |
T |
2: 144,099,924 (GRCm39) |
|
probably null |
Het |
Spag9 |
T |
C |
11: 93,992,986 (GRCm39) |
|
probably null |
Het |
Srrm2 |
T |
C |
17: 24,039,955 (GRCm39) |
S2200P |
probably damaging |
Het |
Stx11 |
T |
C |
10: 12,817,070 (GRCm39) |
E218G |
probably damaging |
Het |
Tmem151b |
T |
C |
17: 45,856,861 (GRCm39) |
N193S |
probably damaging |
Het |
Tmem87b |
A |
T |
2: 128,690,974 (GRCm39) |
D525V |
possibly damaging |
Het |
Ubtfl1 |
A |
T |
9: 18,320,782 (GRCm39) |
R103S |
possibly damaging |
Het |
Vmn1r196 |
T |
A |
13: 22,477,932 (GRCm39) |
D190E |
probably damaging |
Het |
Vmn2r67 |
T |
A |
7: 84,805,019 (GRCm39) |
D31V |
probably benign |
Het |
Zbtb22 |
T |
A |
17: 34,137,553 (GRCm39) |
M566K |
probably benign |
Het |
Zfp568 |
A |
T |
7: 29,721,715 (GRCm39) |
H220L |
probably benign |
Het |
Zfp974 |
A |
T |
7: 27,610,137 (GRCm39) |
S529R |
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 |
|
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 |
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'- TTGAGGAGGCAATGACTTTCTTAG -3'
(R):5'- GTGGGGCTCTCAAGTCAAAATC -3'
Sequencing Primer
(F):5'- GGAGGCAATGACTTTCTTAGTTAAC -3'
(R):5'- CATATAGTTCACCAGCAGCTTAGGG -3'
|
Posted On |
2019-11-12 |