Incidental Mutation 'R5185:Aox4'
| ID |
397786 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aox4
|
| Ensembl Gene |
ENSMUSG00000038242 |
| Gene Name |
aldehyde oxidase 4 |
| Synonyms |
AOH2, 2310003G12Rik |
| MMRRC Submission |
042764-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5185 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
58249556-58307756 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 58293477 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 943
(L943S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048929
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040442]
|
| AlphaFold |
Q3TYQ9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040442
AA Change: L943S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000048929
Gene: ENSMUSG00000038242
AA Change: L943S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Fer2
|
12 |
82 |
1.6e-10 |
PFAM |
|
Pfam:Fer2_2
|
91 |
165 |
4.6e-30 |
PFAM |
|
Pfam:FAD_binding_5
|
240 |
421 |
2.7e-47 |
PFAM |
|
CO_deh_flav_C
|
428 |
532 |
1.19e-26 |
SMART |
|
Ald_Xan_dh_C
|
596 |
699 |
8.22e-39 |
SMART |
|
Pfam:Ald_Xan_dh_C2
|
709 |
1243 |
1.1e-178 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161126
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161833
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
95% (70/74) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele exhibit a slight decrease in prenatal survival and epidermal thickening that is exacerbated by UV treatment. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsf2 |
T |
C |
11: 94,453,737 (GRCm39) |
Y408C |
probably damaging |
Het |
| Ap1g1 |
G |
A |
8: 110,589,958 (GRCm39) |
|
probably benign |
Het |
| Arsb |
T |
C |
13: 93,930,667 (GRCm39) |
S212P |
probably damaging |
Het |
| Arsi |
A |
G |
18: 61,049,984 (GRCm39) |
N289S |
probably damaging |
Het |
| Atp6v1h |
T |
A |
1: 5,165,865 (GRCm39) |
F72I |
probably damaging |
Het |
| Atxn7 |
T |
C |
14: 14,090,063 (GRCm38) |
I336T |
probably benign |
Het |
| Bak1 |
G |
A |
17: 27,241,722 (GRCm39) |
P65L |
possibly damaging |
Het |
| Bcl6 |
A |
T |
16: 23,791,697 (GRCm39) |
M219K |
possibly damaging |
Het |
| Brd3 |
T |
C |
2: 27,352,460 (GRCm39) |
K157E |
probably damaging |
Het |
| Ccdc171 |
T |
G |
4: 83,581,892 (GRCm39) |
S674A |
possibly damaging |
Het |
| Cfap43 |
A |
G |
19: 47,768,833 (GRCm39) |
I737T |
probably benign |
Het |
| Cul9 |
A |
T |
17: 46,836,758 (GRCm39) |
V1089D |
possibly damaging |
Het |
| Dffa |
C |
A |
4: 149,201,887 (GRCm39) |
A155E |
probably benign |
Het |
| Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
| Efcab12 |
T |
A |
6: 115,800,451 (GRCm39) |
M191L |
probably benign |
Het |
| Efl1 |
T |
C |
7: 82,421,707 (GRCm39) |
L1018P |
probably damaging |
Het |
| Fcho1 |
A |
G |
8: 72,167,600 (GRCm39) |
|
probably benign |
Het |
| Fndc3b |
T |
A |
3: 27,511,219 (GRCm39) |
T764S |
probably benign |
Het |
| Gm29125 |
T |
C |
1: 80,361,948 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5108 |
A |
G |
5: 68,101,953 (GRCm39) |
|
probably benign |
Het |
| Gm9949 |
T |
G |
18: 62,313,636 (GRCm39) |
|
probably benign |
Het |
| Golgb1 |
T |
C |
16: 36,695,503 (GRCm39) |
|
probably benign |
Het |
| Gpd2 |
T |
C |
2: 57,230,216 (GRCm39) |
Y323H |
probably damaging |
Het |
| Grip1 |
T |
G |
10: 119,767,164 (GRCm39) |
D96E |
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,532,492 (GRCm39) |
I3132V |
probably benign |
Het |
| Hsd17b1 |
T |
C |
11: 100,971,024 (GRCm39) |
W327R |
possibly damaging |
Het |
| Htra2 |
G |
A |
6: 83,031,223 (GRCm39) |
P62L |
probably benign |
Het |
| Kdr |
A |
T |
5: 76,113,077 (GRCm39) |
|
probably null |
Het |
| Kif14 |
T |
A |
1: 136,455,207 (GRCm39) |
C1626* |
probably null |
Het |
| Kmt2a |
A |
T |
9: 44,731,543 (GRCm39) |
|
probably benign |
Het |
| Krt15 |
T |
C |
11: 100,024,259 (GRCm39) |
T321A |
probably damaging |
Het |
| Lactbl1 |
A |
T |
4: 136,358,356 (GRCm39) |
H109L |
probably benign |
Het |
| Lilra6 |
T |
A |
7: 3,917,635 (GRCm39) |
H120L |
probably benign |
Het |
| Lpcat2 |
G |
A |
8: 93,596,365 (GRCm39) |
S134N |
probably benign |
Het |
| Mpp4 |
T |
C |
1: 59,164,742 (GRCm39) |
D465G |
probably benign |
Het |
| Naip2 |
A |
T |
13: 100,325,859 (GRCm39) |
D16E |
probably damaging |
Het |
| Nek5 |
C |
T |
8: 22,573,397 (GRCm39) |
A520T |
possibly damaging |
Het |
| Nfatc2 |
A |
G |
2: 168,412,627 (GRCm39) |
F132L |
possibly damaging |
Het |
| Nlrp3 |
C |
A |
11: 59,455,910 (GRCm39) |
T902N |
probably benign |
Het |
| Or10d1b |
A |
T |
9: 39,613,172 (GRCm39) |
W298R |
probably benign |
Het |
| Or4c123 |
A |
T |
2: 89,126,731 (GRCm39) |
H294Q |
probably benign |
Het |
| Or7e165 |
T |
C |
9: 19,694,672 (GRCm39) |
M81T |
probably damaging |
Het |
| Or8h7 |
T |
C |
2: 86,720,946 (GRCm39) |
D191G |
probably benign |
Het |
| Pcdhb16 |
T |
C |
18: 37,613,142 (GRCm39) |
S701P |
possibly damaging |
Het |
| Phf7 |
A |
G |
14: 30,969,994 (GRCm39) |
|
probably null |
Het |
| Plpp4 |
G |
A |
7: 128,918,028 (GRCm39) |
V68M |
probably damaging |
Het |
| Pnma2 |
A |
T |
14: 67,153,578 (GRCm39) |
M1L |
possibly damaging |
Het |
| Pnma8b |
A |
T |
7: 16,679,901 (GRCm39) |
D295V |
probably damaging |
Het |
| Rad21l |
T |
C |
2: 151,499,382 (GRCm39) |
D270G |
probably benign |
Het |
| Ralgapa2 |
C |
A |
2: 146,230,406 (GRCm39) |
|
probably null |
Het |
| Rasal3 |
A |
T |
17: 32,615,764 (GRCm39) |
L334Q |
probably damaging |
Het |
| Rfx4 |
G |
T |
10: 84,699,114 (GRCm39) |
R240L |
probably damaging |
Het |
| Rnf19b |
T |
A |
4: 128,977,713 (GRCm39) |
C642* |
probably null |
Het |
| Slc28a2 |
G |
A |
2: 122,288,675 (GRCm39) |
E594K |
probably benign |
Het |
| Spata31 |
G |
T |
13: 65,065,340 (GRCm39) |
W15L |
possibly damaging |
Het |
| Spink5 |
T |
C |
18: 44,148,711 (GRCm39) |
S925P |
probably damaging |
Het |
| Svep1 |
C |
T |
4: 58,084,534 (GRCm39) |
G1865S |
probably damaging |
Het |
| Tg |
T |
C |
15: 66,645,323 (GRCm39) |
L791P |
probably damaging |
Het |
| Thbs4 |
A |
C |
13: 92,911,675 (GRCm39) |
V247G |
probably damaging |
Het |
| Tpcn2 |
A |
T |
7: 144,809,191 (GRCm39) |
F705Y |
probably damaging |
Het |
| Try10 |
A |
T |
6: 41,333,483 (GRCm39) |
H76L |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,769,565 (GRCm39) |
V2695I |
probably damaging |
Het |
| Tut1 |
C |
A |
19: 8,932,814 (GRCm39) |
T49N |
probably benign |
Het |
| Vmn1r17 |
A |
G |
6: 57,337,828 (GRCm39) |
V130A |
probably benign |
Het |
| Xdh |
G |
A |
17: 74,232,006 (GRCm39) |
R235C |
probably damaging |
Het |
| Yipf4 |
A |
G |
17: 74,799,470 (GRCm39) |
D70G |
probably null |
Het |
| Zfp108 |
G |
T |
7: 23,960,163 (GRCm39) |
K251N |
probably benign |
Het |
|
| Other mutations in Aox4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00959:Aox4
|
APN |
1 |
58,278,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01011:Aox4
|
APN |
1 |
58,279,934 (GRCm39) |
nonsense |
probably null |
|
|
IGL01634:Aox4
|
APN |
1 |
58,261,089 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL01689:Aox4
|
APN |
1 |
58,284,320 (GRCm39) |
splice site |
probably benign |
|
|
IGL01874:Aox4
|
APN |
1 |
58,291,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02104:Aox4
|
APN |
1 |
58,275,816 (GRCm39) |
splice site |
probably benign |
|
|
IGL02744:Aox4
|
APN |
1 |
58,294,711 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02751:Aox4
|
APN |
1 |
58,298,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03225:Aox4
|
APN |
1 |
58,286,386 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03247:Aox4
|
APN |
1 |
58,303,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03369:Aox4
|
APN |
1 |
58,301,746 (GRCm39) |
missense |
probably benign |
0.01 |
|
BB008:Aox4
|
UTSW |
1 |
58,294,645 (GRCm39) |
missense |
probably benign |
0.07 |
|
BB018:Aox4
|
UTSW |
1 |
58,294,645 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0138:Aox4
|
UTSW |
1 |
58,268,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0243:Aox4
|
UTSW |
1 |
58,252,235 (GRCm39) |
missense |
probably benign |
|
|
R0368:Aox4
|
UTSW |
1 |
58,252,238 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0499:Aox4
|
UTSW |
1 |
58,302,556 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0513:Aox4
|
UTSW |
1 |
58,286,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0513:Aox4
|
UTSW |
1 |
58,256,678 (GRCm39) |
missense |
probably benign |
|
|
R0546:Aox4
|
UTSW |
1 |
58,289,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0591:Aox4
|
UTSW |
1 |
58,278,261 (GRCm39) |
splice site |
probably benign |
|
|
R0825:Aox4
|
UTSW |
1 |
58,288,068 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1912:Aox4
|
UTSW |
1 |
58,303,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1934:Aox4
|
UTSW |
1 |
58,285,095 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2180:Aox4
|
UTSW |
1 |
58,252,226 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2293:Aox4
|
UTSW |
1 |
58,261,096 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3017:Aox4
|
UTSW |
1 |
58,274,363 (GRCm39) |
missense |
probably benign |
|
|
R3744:Aox4
|
UTSW |
1 |
58,285,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3745:Aox4
|
UTSW |
1 |
58,285,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3830:Aox4
|
UTSW |
1 |
58,294,670 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3856:Aox4
|
UTSW |
1 |
58,293,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4214:Aox4
|
UTSW |
1 |
58,261,051 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4484:Aox4
|
UTSW |
1 |
58,301,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4706:Aox4
|
UTSW |
1 |
58,305,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4710:Aox4
|
UTSW |
1 |
58,294,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4729:Aox4
|
UTSW |
1 |
58,298,236 (GRCm39) |
nonsense |
probably null |
|
|
R4769:Aox4
|
UTSW |
1 |
58,298,307 (GRCm39) |
missense |
probably null |
1.00 |
|
R4809:Aox4
|
UTSW |
1 |
58,305,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4989:Aox4
|
UTSW |
1 |
58,275,835 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5082:Aox4
|
UTSW |
1 |
58,270,642 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5102:Aox4
|
UTSW |
1 |
58,279,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5114:Aox4
|
UTSW |
1 |
58,285,445 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5133:Aox4
|
UTSW |
1 |
58,275,835 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5134:Aox4
|
UTSW |
1 |
58,275,835 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5217:Aox4
|
UTSW |
1 |
58,285,400 (GRCm39) |
nonsense |
probably null |
|
|
R5426:Aox4
|
UTSW |
1 |
58,259,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5443:Aox4
|
UTSW |
1 |
58,273,151 (GRCm39) |
splice site |
probably null |
|
|
R5708:Aox4
|
UTSW |
1 |
58,285,032 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6052:Aox4
|
UTSW |
1 |
58,293,477 (GRCm39) |
nonsense |
probably null |
|
|
R6167:Aox4
|
UTSW |
1 |
58,303,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6179:Aox4
|
UTSW |
1 |
58,270,662 (GRCm39) |
missense |
probably benign |
|
|
R6196:Aox4
|
UTSW |
1 |
58,256,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6513:Aox4
|
UTSW |
1 |
58,252,212 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6781:Aox4
|
UTSW |
1 |
58,284,268 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6885:Aox4
|
UTSW |
1 |
58,303,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7082:Aox4
|
UTSW |
1 |
58,263,352 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7127:Aox4
|
UTSW |
1 |
58,268,033 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7153:Aox4
|
UTSW |
1 |
58,289,378 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7371:Aox4
|
UTSW |
1 |
58,303,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7690:Aox4
|
UTSW |
1 |
58,303,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7745:Aox4
|
UTSW |
1 |
58,279,866 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7752:Aox4
|
UTSW |
1 |
58,293,107 (GRCm39) |
missense |
not run |
|
|
R7767:Aox4
|
UTSW |
1 |
58,274,366 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7782:Aox4
|
UTSW |
1 |
58,270,251 (GRCm39) |
splice site |
probably null |
|
|
R7931:Aox4
|
UTSW |
1 |
58,294,645 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7978:Aox4
|
UTSW |
1 |
58,274,366 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7982:Aox4
|
UTSW |
1 |
58,296,400 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8316:Aox4
|
UTSW |
1 |
58,293,470 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8361:Aox4
|
UTSW |
1 |
58,279,998 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8829:Aox4
|
UTSW |
1 |
58,294,649 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8832:Aox4
|
UTSW |
1 |
58,294,649 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8896:Aox4
|
UTSW |
1 |
58,291,233 (GRCm39) |
missense |
probably benign |
|
|
R9103:Aox4
|
UTSW |
1 |
58,296,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9241:Aox4
|
UTSW |
1 |
58,291,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9282:Aox4
|
UTSW |
1 |
58,285,028 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R9487:Aox4
|
UTSW |
1 |
58,288,097 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9493:Aox4
|
UTSW |
1 |
58,286,434 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9557:Aox4
|
UTSW |
1 |
58,285,095 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9616:Aox4
|
UTSW |
1 |
58,268,020 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9644:Aox4
|
UTSW |
1 |
58,267,278 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9683:Aox4
|
UTSW |
1 |
58,278,462 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9727:Aox4
|
UTSW |
1 |
58,286,473 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9767:Aox4
|
UTSW |
1 |
58,274,357 (GRCm39) |
missense |
probably benign |
0.05 |
|
X0021:Aox4
|
UTSW |
1 |
58,286,454 (GRCm39) |
nonsense |
probably null |
|
|
X0028:Aox4
|
UTSW |
1 |
58,293,342 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Aox4
|
UTSW |
1 |
58,285,510 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGTGATAGAATTTGTCGTGC -3'
(R):5'- TTCCAATGAGCTGGCCTAAG -3'
Sequencing Primer
(F):5'- AGAATTTGTCGTGCTGAAATCTG -3'
(R):5'- TGAGCTGGCCTAAGACCAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation