Incidental Mutation 'R9379:Aox3'
ID |
709833 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aox3
|
Ensembl Gene |
ENSMUSG00000064294 |
Gene Name |
aldehyde oxidase 3 |
Synonyms |
1200011D03Rik, AOH1 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9379 (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 T
at 58208959 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 831
(I831F)
|
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: I831F
PolyPhen 2
Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000049391 Gene: ENSMUSG00000064294 AA Change: I831F
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: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700009N14Rik |
A |
T |
4: 39,451,201 (GRCm39) |
I136F |
possibly damaging |
Het |
1700019D03Rik |
T |
A |
1: 52,964,635 (GRCm39) |
D31V |
probably benign |
Het |
Abca14 |
G |
T |
7: 119,807,202 (GRCm39) |
E83* |
probably null |
Het |
Abcc5 |
T |
C |
16: 20,152,437 (GRCm39) |
T1370A |
probably damaging |
Het |
Ankhd1 |
T |
C |
18: 36,777,680 (GRCm39) |
V1621A |
probably benign |
Het |
Ano8 |
T |
A |
8: 71,936,178 (GRCm39) |
Q206L |
probably benign |
Het |
Atp2a2 |
T |
C |
5: 122,611,315 (GRCm39) |
I168V |
probably benign |
Het |
Atxn2 |
G |
A |
5: 121,885,509 (GRCm39) |
V239I |
probably damaging |
Het |
B230219D22Rik |
C |
A |
13: 55,847,283 (GRCm39) |
A132E |
probably damaging |
Het |
Btbd17 |
C |
A |
11: 114,682,749 (GRCm39) |
W321L |
possibly damaging |
Het |
Cacna1i |
T |
A |
15: 80,259,495 (GRCm39) |
V1255E |
probably damaging |
Het |
Camsap1 |
T |
C |
2: 25,846,318 (GRCm39) |
I132V |
|
Het |
Chd7 |
A |
G |
4: 8,752,210 (GRCm39) |
S236G |
unknown |
Het |
Clasp1 |
CCTGCTGCTGCTGCTG |
CCTGCTGCTGCTGCTGCTG |
1: 118,509,157 (GRCm39) |
|
probably benign |
Het |
Clasp1 |
TGC |
TGCCGC |
1: 118,509,168 (GRCm39) |
|
probably benign |
Het |
Col4a1 |
T |
A |
8: 11,249,838 (GRCm39) |
H1658L |
unknown |
Het |
D630044L22Rik |
A |
G |
17: 26,180,856 (GRCm39) |
H102R |
possibly damaging |
Het |
Dact3 |
G |
A |
7: 16,620,013 (GRCm39) |
V503I |
unknown |
Het |
Dcn |
G |
T |
10: 97,343,643 (GRCm39) |
R201L |
probably damaging |
Het |
Dmxl1 |
T |
C |
18: 50,024,567 (GRCm39) |
V1747A |
possibly damaging |
Het |
Dnajc14 |
T |
A |
10: 128,652,743 (GRCm39) |
|
probably null |
Het |
Dspp |
A |
T |
5: 104,322,760 (GRCm39) |
|
probably null |
Het |
Ep300 |
T |
C |
15: 81,532,760 (GRCm39) |
V1666A |
unknown |
Het |
Flvcr2 |
A |
G |
12: 85,850,000 (GRCm39) |
I429V |
probably benign |
Het |
Gpr158 |
A |
G |
2: 21,373,042 (GRCm39) |
|
probably benign |
Het |
Grip1 |
G |
T |
10: 119,780,961 (GRCm39) |
L203F |
probably damaging |
Het |
Hoga1 |
T |
C |
19: 42,051,697 (GRCm39) |
L250P |
probably damaging |
Het |
Htr2b |
A |
G |
1: 86,027,844 (GRCm39) |
S221P |
probably damaging |
Het |
Ighv1-24 |
T |
C |
12: 114,736,663 (GRCm39) |
Y79C |
possibly damaging |
Het |
Katnip |
T |
C |
7: 125,469,848 (GRCm39) |
L1439P |
probably damaging |
Het |
Kcnq1 |
A |
G |
7: 142,745,169 (GRCm39) |
T311A |
probably damaging |
Het |
Kif21a |
C |
T |
15: 90,854,030 (GRCm39) |
R779Q |
probably damaging |
Het |
Lilra6 |
T |
C |
7: 3,916,166 (GRCm39) |
E231G |
probably damaging |
Het |
Lrrc8c |
T |
A |
5: 105,756,356 (GRCm39) |
Y710* |
probably null |
Het |
Mixl1 |
A |
G |
1: 180,522,258 (GRCm39) |
S208P |
probably benign |
Het |
Muc16 |
T |
A |
9: 18,557,467 (GRCm39) |
Q2942L |
unknown |
Het |
Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
Nlrp4e |
C |
G |
7: 23,020,755 (GRCm39) |
A414G |
probably benign |
Het |
Nos1 |
G |
C |
5: 118,017,402 (GRCm39) |
R255P |
probably benign |
Het |
Nup85 |
T |
C |
11: 115,469,424 (GRCm39) |
I322T |
probably benign |
Het |
Odad1 |
A |
G |
7: 45,597,116 (GRCm39) |
T456A |
probably benign |
Het |
Odad2 |
T |
C |
18: 7,265,089 (GRCm39) |
D426G |
possibly damaging |
Het |
Or10n7-ps1 |
A |
G |
9: 39,598,114 (GRCm39) |
L42P |
probably damaging |
Het |
Or7e169 |
T |
A |
9: 19,757,212 (GRCm39) |
K234N |
possibly damaging |
Het |
Or8b4 |
C |
T |
9: 37,830,447 (GRCm39) |
L165F |
probably damaging |
Het |
Or9k2b |
A |
G |
10: 130,016,605 (GRCm39) |
M48T |
possibly damaging |
Het |
Osbpl9 |
A |
T |
4: 108,940,399 (GRCm39) |
H178Q |
probably damaging |
Het |
Parp14 |
A |
G |
16: 35,680,853 (GRCm39) |
V260A |
probably benign |
Het |
Plxna2 |
C |
T |
1: 194,492,474 (GRCm39) |
T1777I |
probably damaging |
Het |
Ppp3cb |
T |
C |
14: 20,581,874 (GRCm39) |
D47G |
probably benign |
Het |
Pram1 |
T |
C |
17: 33,860,441 (GRCm39) |
V336A |
probably damaging |
Het |
Prl |
T |
A |
13: 27,243,503 (GRCm39) |
I58N |
probably damaging |
Het |
Qrich2 |
T |
C |
11: 116,348,934 (GRCm39) |
D630G |
unknown |
Het |
Ralgapa1 |
G |
C |
12: 55,769,583 (GRCm39) |
P803A |
probably damaging |
Het |
Rtcb |
A |
T |
10: 85,779,071 (GRCm39) |
|
probably null |
Het |
Ryr2 |
C |
T |
13: 11,898,002 (GRCm39) |
C131Y |
probably damaging |
Het |
Spata7 |
A |
G |
12: 98,600,548 (GRCm39) |
I54V |
probably benign |
Het |
St6galnac3 |
A |
G |
3: 153,215,070 (GRCm39) |
V28A |
probably benign |
Het |
Stra6l |
A |
T |
4: 45,849,093 (GRCm39) |
T6S |
probably benign |
Het |
Taf4b |
C |
T |
18: 14,946,431 (GRCm39) |
T418M |
probably damaging |
Het |
Taf6 |
A |
G |
5: 138,181,952 (GRCm39) |
I92T |
possibly damaging |
Het |
Tcaf2 |
C |
T |
6: 42,619,517 (GRCm39) |
S170N |
probably benign |
Het |
Tfrc |
A |
G |
16: 32,443,819 (GRCm39) |
D541G |
probably damaging |
Het |
Trav13n-3 |
T |
G |
14: 53,574,853 (GRCm39) |
L32V |
probably damaging |
Het |
Trpa1 |
T |
C |
1: 14,966,739 (GRCm39) |
T542A |
possibly damaging |
Het |
Ttc39b |
A |
T |
4: 83,189,376 (GRCm39) |
S53T |
probably benign |
Het |
Tut7 |
T |
C |
13: 59,936,288 (GRCm39) |
Y1271C |
possibly damaging |
Het |
Ubap2 |
A |
T |
4: 41,216,630 (GRCm39) |
S268T |
possibly damaging |
Het |
Usp40 |
A |
G |
1: 87,881,889 (GRCm39) |
V998A |
probably benign |
Het |
Usp44 |
T |
A |
10: 93,688,635 (GRCm39) |
I562K |
possibly damaging |
Het |
Vmn2r106 |
T |
C |
17: 20,496,066 (GRCm39) |
T553A |
probably damaging |
Het |
Vmn2r65 |
A |
G |
7: 84,596,650 (GRCm39) |
V135A |
probably damaging |
Het |
Wbp2nl |
T |
A |
15: 82,198,311 (GRCm39) |
S283T |
possibly damaging |
Het |
Wnk1 |
G |
A |
6: 119,928,678 (GRCm39) |
T1092I |
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 |
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 |
|
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'- CTGTGACACCAGAGAGGAAC -3'
(R):5'- TGTGCAGTGACTCACAGGTC -3'
Sequencing Primer
(F):5'- CATCTTAAGCCTTCAGGAAGTTTC -3'
(R):5'- TGATACTGAGGCTTGGTAAGACC -3'
|
Posted On |
2022-04-18 |