Incidental Mutation 'R7243:Aox3'
ID |
563325 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aox3
|
Ensembl Gene |
ENSMUSG00000064294 |
Gene Name |
aldehyde oxidase 3 |
Synonyms |
1200011D03Rik, AOH1 |
MMRRC Submission |
045307-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7243 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
58152289-58239857 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 58177466 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Valine
at position 227
(G227V)
|
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 |
unknown
Transcript: ENSMUST00000162011
AA Change: G227V
|
SMART Domains |
Protein: ENSMUSP00000140140 Gene: ENSMUSG00000064294 AA Change: G227V
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% (73/74) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap1 |
G |
A |
11: 69,781,297 (GRCm39) |
H103Y |
probably benign |
Het |
Adamdec1 |
A |
G |
14: 68,809,203 (GRCm39) |
M253T |
probably benign |
Het |
Alox15 |
C |
A |
11: 70,241,540 (GRCm39) |
G114C |
probably null |
Het |
Atp8a2 |
A |
T |
14: 59,885,291 (GRCm39) |
N1144K |
probably benign |
Het |
Cacna1c |
C |
T |
6: 118,614,690 (GRCm39) |
|
probably null |
Het |
Cog6 |
A |
T |
3: 52,909,736 (GRCm39) |
W314R |
probably damaging |
Het |
Col5a2 |
A |
G |
1: 45,415,320 (GRCm39) |
I1473T |
probably benign |
Het |
Csmd1 |
T |
A |
8: 15,965,357 (GRCm39) |
D3218V |
probably damaging |
Het |
Cyp3a11 |
A |
G |
5: 145,795,613 (GRCm39) |
M446T |
probably damaging |
Het |
Dhps |
A |
G |
8: 85,801,567 (GRCm39) |
Y340C |
probably benign |
Het |
Dnah7b |
A |
G |
1: 46,122,914 (GRCm39) |
N108S |
probably benign |
Het |
Dnajb1 |
C |
T |
8: 84,337,393 (GRCm39) |
P323L |
probably damaging |
Het |
Dspp |
TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG |
TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG |
5: 104,326,227 (GRCm39) |
|
probably benign |
Het |
Dync2h1 |
G |
T |
9: 7,102,405 (GRCm39) |
T2665K |
possibly damaging |
Het |
Etv1 |
C |
T |
12: 38,907,045 (GRCm39) |
S349L |
probably benign |
Het |
Fam171a1 |
A |
T |
2: 3,119,653 (GRCm39) |
T21S |
probably benign |
Het |
Fbh1 |
T |
A |
2: 11,756,336 (GRCm39) |
T749S |
probably benign |
Het |
Fcho2 |
T |
C |
13: 98,891,724 (GRCm39) |
D346G |
possibly damaging |
Het |
Fcrl5 |
A |
G |
3: 87,349,552 (GRCm39) |
H109R |
probably benign |
Het |
Fstl1 |
A |
G |
16: 37,647,088 (GRCm39) |
S153G |
probably benign |
Het |
Fyb1 |
T |
C |
15: 6,673,180 (GRCm39) |
F605L |
probably benign |
Het |
Gcat |
T |
A |
15: 78,921,063 (GRCm39) |
M363K |
possibly damaging |
Het |
Gm10604 |
T |
C |
4: 11,980,113 (GRCm39) |
T64A |
unknown |
Het |
Grin2d |
A |
G |
7: 45,515,552 (GRCm39) |
L147P |
probably damaging |
Het |
Ift88 |
A |
T |
14: 57,667,993 (GRCm39) |
|
probably null |
Het |
Ighg1 |
A |
T |
12: 113,294,066 (GRCm39) |
C26S |
|
Het |
Ing2 |
A |
G |
8: 48,127,574 (GRCm39) |
S48P |
probably damaging |
Het |
Kat6a |
C |
T |
8: 23,428,791 (GRCm39) |
T1382I |
probably benign |
Het |
Kdm1a |
A |
G |
4: 136,279,265 (GRCm39) |
V765A |
probably damaging |
Het |
Klk1b26 |
T |
C |
7: 43,665,691 (GRCm39) |
S168P |
not run |
Het |
Klk1b26 |
A |
G |
7: 43,666,337 (GRCm39) |
N260S |
probably damaging |
Het |
Lama3 |
G |
A |
18: 12,552,902 (GRCm39) |
G438D |
probably damaging |
Het |
Larp6 |
T |
A |
9: 60,620,569 (GRCm39) |
D27E |
probably benign |
Het |
Lrba |
T |
A |
3: 86,658,823 (GRCm39) |
|
probably null |
Het |
Lrig2 |
A |
T |
3: 104,404,883 (GRCm39) |
|
probably null |
Het |
Megf9 |
T |
C |
4: 70,353,708 (GRCm39) |
E366G |
probably benign |
Het |
Mob1b |
T |
A |
5: 88,891,304 (GRCm39) |
D52E |
probably damaging |
Het |
Ndufb3 |
A |
T |
1: 58,630,282 (GRCm39) |
H11L |
unknown |
Het |
Odc1 |
T |
G |
12: 17,600,058 (GRCm39) |
Y407* |
probably null |
Het |
Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
Opa1 |
A |
G |
16: 29,405,814 (GRCm39) |
I126M |
probably benign |
Het |
Or2t47 |
T |
C |
11: 58,442,227 (GRCm39) |
I279M |
probably damaging |
Het |
Or3a1b |
T |
A |
11: 74,012,559 (GRCm39) |
V148E |
probably damaging |
Het |
Or51a10 |
A |
G |
7: 103,698,962 (GRCm39) |
Y200H |
probably damaging |
Het |
Or51f5 |
A |
T |
7: 102,430,865 (GRCm39) |
T61S |
probably benign |
Het |
Pcca |
A |
G |
14: 123,114,186 (GRCm39) |
H633R |
probably benign |
Het |
Pcdhb22 |
A |
G |
18: 37,653,685 (GRCm39) |
R461G |
probably benign |
Het |
Pcf11 |
A |
T |
7: 92,309,268 (GRCm39) |
D647E |
probably damaging |
Het |
Plscr1l1 |
A |
G |
9: 92,225,726 (GRCm39) |
Y16C |
probably damaging |
Het |
Plxnd1 |
T |
A |
6: 115,949,468 (GRCm39) |
I773F |
probably benign |
Het |
Prl8a1 |
A |
T |
13: 27,766,086 (GRCm39) |
L3Q |
probably damaging |
Het |
Psg17 |
C |
A |
7: 18,552,640 (GRCm39) |
G212C |
probably damaging |
Het |
Ptbp2 |
G |
T |
3: 119,546,761 (GRCm39) |
N40K |
possibly damaging |
Het |
Ptprj |
T |
C |
2: 90,276,765 (GRCm39) |
H1102R |
probably damaging |
Het |
Rbfox3 |
T |
C |
11: 118,404,100 (GRCm39) |
Y33C |
probably damaging |
Het |
Ros1 |
T |
A |
10: 51,999,477 (GRCm39) |
N1158Y |
probably damaging |
Het |
Rpgrip1l |
T |
C |
8: 91,996,751 (GRCm39) |
I710V |
probably benign |
Het |
Scn9a |
A |
G |
2: 66,370,874 (GRCm39) |
F569L |
probably damaging |
Het |
Slc12a4 |
A |
T |
8: 106,680,552 (GRCm39) |
M190K |
probably damaging |
Het |
Slc22a20 |
G |
A |
19: 6,021,599 (GRCm39) |
R468C |
probably damaging |
Het |
Slc45a2 |
T |
A |
15: 11,023,436 (GRCm39) |
Y347N |
possibly damaging |
Het |
Slc4a10 |
A |
G |
2: 62,134,206 (GRCm39) |
Y974C |
probably damaging |
Het |
Snap47 |
A |
G |
11: 59,319,548 (GRCm39) |
S197P |
probably benign |
Het |
Snph |
T |
C |
2: 151,436,173 (GRCm39) |
S252G |
probably damaging |
Het |
Spns2 |
A |
T |
11: 72,347,686 (GRCm39) |
W335R |
probably damaging |
Het |
Thnsl1 |
A |
G |
2: 21,217,658 (GRCm39) |
I471V |
probably damaging |
Het |
Tmprss11f |
C |
A |
5: 86,677,975 (GRCm39) |
G265C |
probably damaging |
Het |
Tnn |
C |
T |
1: 159,934,687 (GRCm39) |
R1242H |
probably benign |
Het |
Tsc2 |
T |
C |
17: 24,818,604 (GRCm39) |
R1412G |
probably benign |
Het |
Tsc22d2 |
G |
T |
3: 58,323,884 (GRCm39) |
V259F |
unknown |
Het |
Ttll13 |
A |
C |
7: 79,903,911 (GRCm39) |
K280Q |
probably damaging |
Het |
Wls |
A |
T |
3: 159,615,402 (GRCm39) |
I306F |
possibly damaging |
Het |
Zfp566 |
A |
G |
7: 29,777,701 (GRCm39) |
V160A |
probably benign |
Het |
Zfyve28 |
T |
C |
5: 34,356,219 (GRCm39) |
T761A |
probably damaging |
Het |
Zswim8 |
G |
A |
14: 20,764,436 (GRCm39) |
R602Q |
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 |
|
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 |
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'- AGTCCAGGCTTTTCAAACAGG -3'
(R):5'- GCATTGAGTTCCAGAACACGTG -3'
Sequencing Primer
(F):5'- TCCAGGCTTTTCAAACAGGAAGTAG -3'
(R):5'- GTGCCCTGGATCTAGACAATG -3'
|
Posted On |
2019-06-26 |