Incidental Mutation 'R5426:Aox4'
| ID |
501020 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aox4
|
| Ensembl Gene |
ENSMUSG00000038242 |
| Gene Name |
aldehyde oxidase 4 |
| Synonyms |
2310003G12Rik, AOH2 |
| MMRRC Submission |
042992-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5426 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
58210397-58268597 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 58220094 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 106
(Q106L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048929
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040442]
|
| AlphaFold |
Q3TYQ9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040442
AA Change: Q106L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000048929
Gene: ENSMUSG00000038242
AA Change: Q106L
| 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: ENSMUST00000159240
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161833
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
97% (85/88) |
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
T |
A |
9: 124,294,003 |
H122L |
probably damaging |
Het |
| 9330182O14Rik |
G |
A |
15: 40,148,537 |
D91N |
unknown |
Het |
| 9330182O14Rik |
G |
A |
15: 40,148,536 |
M90I |
unknown |
Het |
| Abca13 |
T |
A |
11: 9,290,722 |
S862T |
probably damaging |
Het |
| Acyp2 |
C |
T |
11: 30,506,354 |
E98K |
possibly damaging |
Het |
| Adgb |
C |
A |
10: 10,350,260 |
A1405S |
probably benign |
Het |
| Adpgk |
T |
A |
9: 59,297,549 |
V86E |
probably damaging |
Het |
| Agfg2 |
G |
C |
5: 137,667,758 |
P80A |
probably damaging |
Het |
| Akap11 |
G |
A |
14: 78,498,864 |
Q1829* |
probably null |
Het |
| Aldh1l1 |
G |
A |
6: 90,559,299 |
R62Q |
probably benign |
Het |
| Als2cr12 |
T |
A |
1: 58,666,886 |
K275* |
probably null |
Het |
| Amd1 |
G |
T |
10: 40,290,187 |
D265E |
probably damaging |
Het |
| Arap2 |
A |
T |
5: 62,642,816 |
N1289K |
probably benign |
Het |
| Arhgef12 |
T |
C |
9: 42,986,584 |
S874G |
probably damaging |
Het |
| BC067074 |
G |
A |
13: 113,369,053 |
V2239I |
probably benign |
Het |
| C87499 |
T |
A |
4: 88,629,410 |
|
probably benign |
Het |
| Ccdc166 |
T |
C |
15: 75,982,096 |
Q45R |
possibly damaging |
Het |
| Cdc45 |
C |
T |
16: 18,795,897 |
R205H |
probably damaging |
Het |
| Cdk14 |
A |
G |
5: 4,888,975 |
S388P |
possibly damaging |
Het |
| Chgb |
A |
T |
2: 132,793,533 |
Q465L |
possibly damaging |
Het |
| Commd9 |
T |
A |
2: 101,898,875 |
W109R |
probably damaging |
Het |
| Cyp2b9 |
T |
C |
7: 26,187,655 |
V163A |
probably benign |
Het |
| Dcpp2 |
T |
A |
17: 23,899,313 |
H27Q |
possibly damaging |
Het |
| Ddn |
T |
A |
15: 98,806,466 |
E315V |
possibly damaging |
Het |
| Defb29 |
C |
A |
2: 152,538,948 |
C47F |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,242,206 |
M2809T |
possibly damaging |
Het |
| Dock4 |
A |
T |
12: 40,745,745 |
I854F |
probably damaging |
Het |
| Dsg4 |
T |
C |
18: 20,458,484 |
Y427H |
probably damaging |
Het |
| E130114P18Rik |
C |
T |
4: 97,690,670 |
A23T |
unknown |
Het |
| Gemin5 |
A |
G |
11: 58,125,287 |
S1297P |
probably benign |
Het |
| Gm10309 |
A |
C |
17: 86,498,733 |
|
probably benign |
Het |
| Gm884 |
A |
T |
11: 103,620,760 |
H127Q |
unknown |
Het |
| Gpatch11 |
T |
A |
17: 78,841,234 |
S155R |
possibly damaging |
Het |
| Grin2b |
C |
A |
6: 135,732,368 |
Q1393H |
probably damaging |
Het |
| Heatr5b |
C |
T |
17: 78,773,713 |
C1370Y |
probably damaging |
Het |
| Hmcn2 |
C |
T |
2: 31,336,544 |
T177I |
possibly damaging |
Het |
| Ildr1 |
A |
T |
16: 36,709,619 |
I123F |
probably damaging |
Het |
| Kalrn |
A |
T |
16: 34,262,653 |
V644D |
probably damaging |
Het |
| Kifap3 |
A |
G |
1: 163,779,871 |
M1V |
probably null |
Het |
| Klhl11 |
A |
G |
11: 100,464,116 |
L293P |
probably damaging |
Het |
| Klrc3 |
G |
A |
6: 129,641,550 |
S98L |
probably benign |
Het |
| Med12l |
G |
A |
3: 59,248,722 |
M1220I |
probably damaging |
Het |
| Ms4a7 |
C |
T |
19: 11,325,802 |
|
probably null |
Het |
| Mybpc2 |
A |
G |
7: 44,509,829 |
V599A |
probably benign |
Het |
| Naalad2 |
T |
C |
9: 18,347,519 |
N487D |
probably benign |
Het |
| Nat8f7 |
T |
G |
6: 85,707,823 |
S12R |
probably benign |
Het |
| Nefm |
T |
A |
14: 68,120,066 |
|
probably benign |
Het |
| Nlrp5 |
T |
C |
7: 23,418,201 |
V450A |
probably damaging |
Het |
| Nps |
G |
A |
7: 135,268,647 |
|
probably null |
Het |
| Olfr1247 |
T |
C |
2: 89,609,739 |
Y121C |
probably damaging |
Het |
| Olfr142 |
T |
A |
2: 90,252,611 |
K126* |
probably null |
Het |
| Olfr159 |
A |
G |
4: 43,770,168 |
I281T |
probably benign |
Het |
| Olfr192 |
G |
T |
16: 59,098,302 |
P230Q |
possibly damaging |
Het |
| Olfr492 |
T |
C |
7: 108,322,810 |
N289D |
probably damaging |
Het |
| Olfr513 |
T |
C |
7: 108,755,717 |
L287P |
possibly damaging |
Het |
| Olfr698 |
C |
A |
7: 106,752,566 |
S274I |
probably benign |
Het |
| Oxct2a |
C |
A |
4: 123,322,713 |
G292W |
possibly damaging |
Het |
| Prr27 |
T |
C |
5: 87,850,885 |
|
probably benign |
Het |
| Ptx3 |
T |
C |
3: 66,220,722 |
M68T |
probably damaging |
Het |
| Rufy1 |
A |
G |
11: 50,421,734 |
L131S |
probably damaging |
Het |
| Sept7 |
T |
A |
9: 25,286,690 |
I100N |
possibly damaging |
Het |
| Sgms2 |
T |
C |
3: 131,341,797 |
I143V |
probably benign |
Het |
| Slc25a34 |
A |
G |
4: 141,623,566 |
V44A |
probably damaging |
Het |
| Slc28a3 |
T |
A |
13: 58,563,154 |
D518V |
probably damaging |
Het |
| Slc6a7 |
C |
T |
18: 61,003,236 |
|
probably null |
Het |
| Slco4a1 |
C |
A |
2: 180,471,235 |
A420D |
possibly damaging |
Het |
| Smap1 |
T |
C |
1: 23,849,390 |
T180A |
probably benign |
Het |
| Specc1l |
T |
C |
10: 75,267,550 |
S920P |
probably benign |
Het |
| Tgtp2 |
A |
G |
11: 49,059,256 |
M163T |
probably benign |
Het |
| Tiam1 |
G |
T |
16: 89,865,392 |
Q613K |
possibly damaging |
Het |
| Vsig10l |
T |
A |
7: 43,464,823 |
S190T |
probably damaging |
Het |
| Vwa3b |
A |
G |
1: 37,115,671 |
Y512C |
probably damaging |
Het |
| Wdfy3 |
T |
A |
5: 101,919,446 |
N1207Y |
probably damaging |
Het |
| Wdr17 |
C |
T |
8: 54,681,399 |
G349R |
probably damaging |
Het |
| Wdr70 |
A |
G |
15: 7,922,105 |
L417S |
possibly damaging |
Het |
| Wdr81 |
A |
C |
11: 75,450,896 |
S1182A |
possibly damaging |
Het |
| Zfp458 |
A |
T |
13: 67,257,192 |
C391* |
probably null |
Het |
| Zfp638 |
A |
G |
6: 83,976,414 |
E1167G |
probably damaging |
Het |
| Zfp763 |
T |
A |
17: 33,019,595 |
D192V |
probably benign |
Het |
| Zfp853 |
T |
G |
5: 143,288,869 |
Q332P |
unknown |
Het |
|
| Other mutations in Aox4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00959:Aox4
|
APN |
1 |
58,239,174 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01011:Aox4
|
APN |
1 |
58,240,775 (GRCm38) |
nonsense |
probably null |
|
|
IGL01634:Aox4
|
APN |
1 |
58,221,930 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
IGL01689:Aox4
|
APN |
1 |
58,245,161 (GRCm38) |
splice site |
probably benign |
|
|
IGL01874:Aox4
|
APN |
1 |
58,252,084 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02104:Aox4
|
APN |
1 |
58,236,657 (GRCm38) |
splice site |
probably benign |
|
|
IGL02744:Aox4
|
APN |
1 |
58,255,552 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
IGL02751:Aox4
|
APN |
1 |
58,259,052 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03225:Aox4
|
APN |
1 |
58,247,227 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL03247:Aox4
|
APN |
1 |
58,264,367 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03369:Aox4
|
APN |
1 |
58,262,587 (GRCm38) |
missense |
probably benign |
0.01 |
|
BB008:Aox4
|
UTSW |
1 |
58,255,486 (GRCm38) |
missense |
probably benign |
0.07 |
|
BB018:Aox4
|
UTSW |
1 |
58,255,486 (GRCm38) |
missense |
probably benign |
0.07 |
|
R0138:Aox4
|
UTSW |
1 |
58,228,866 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0243:Aox4
|
UTSW |
1 |
58,213,076 (GRCm38) |
missense |
probably benign |
|
|
R0368:Aox4
|
UTSW |
1 |
58,213,079 (GRCm38) |
missense |
probably benign |
0.07 |
|
R0499:Aox4
|
UTSW |
1 |
58,263,397 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0513:Aox4
|
UTSW |
1 |
58,247,300 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0513:Aox4
|
UTSW |
1 |
58,217,519 (GRCm38) |
missense |
probably benign |
|
|
R0546:Aox4
|
UTSW |
1 |
58,250,174 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0591:Aox4
|
UTSW |
1 |
58,239,102 (GRCm38) |
splice site |
probably benign |
|
|
R0825:Aox4
|
UTSW |
1 |
58,248,909 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R1912:Aox4
|
UTSW |
1 |
58,264,402 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1934:Aox4
|
UTSW |
1 |
58,245,936 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2180:Aox4
|
UTSW |
1 |
58,213,067 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2293:Aox4
|
UTSW |
1 |
58,221,937 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3017:Aox4
|
UTSW |
1 |
58,235,204 (GRCm38) |
missense |
probably benign |
|
|
R3744:Aox4
|
UTSW |
1 |
58,245,870 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3745:Aox4
|
UTSW |
1 |
58,245,870 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3830:Aox4
|
UTSW |
1 |
58,255,511 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3856:Aox4
|
UTSW |
1 |
58,253,934 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4214:Aox4
|
UTSW |
1 |
58,221,892 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4484:Aox4
|
UTSW |
1 |
58,262,571 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4706:Aox4
|
UTSW |
1 |
58,266,787 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4710:Aox4
|
UTSW |
1 |
58,255,638 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4729:Aox4
|
UTSW |
1 |
58,259,077 (GRCm38) |
nonsense |
probably null |
|
|
R4769:Aox4
|
UTSW |
1 |
58,259,148 (GRCm38) |
missense |
probably null |
1.00 |
|
R4809:Aox4
|
UTSW |
1 |
58,266,649 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4989:Aox4
|
UTSW |
1 |
58,236,676 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5082:Aox4
|
UTSW |
1 |
58,231,483 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R5102:Aox4
|
UTSW |
1 |
58,240,778 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5114:Aox4
|
UTSW |
1 |
58,246,286 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R5133:Aox4
|
UTSW |
1 |
58,236,676 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5134:Aox4
|
UTSW |
1 |
58,236,676 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5185:Aox4
|
UTSW |
1 |
58,254,318 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5217:Aox4
|
UTSW |
1 |
58,246,241 (GRCm38) |
nonsense |
probably null |
|
|
R5443:Aox4
|
UTSW |
1 |
58,233,992 (GRCm38) |
splice site |
probably null |
|
|
R5708:Aox4
|
UTSW |
1 |
58,245,873 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R6052:Aox4
|
UTSW |
1 |
58,254,318 (GRCm38) |
nonsense |
probably null |
|
|
R6167:Aox4
|
UTSW |
1 |
58,263,935 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6179:Aox4
|
UTSW |
1 |
58,231,503 (GRCm38) |
missense |
probably benign |
|
|
R6196:Aox4
|
UTSW |
1 |
58,217,526 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6513:Aox4
|
UTSW |
1 |
58,213,053 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6781:Aox4
|
UTSW |
1 |
58,245,109 (GRCm38) |
missense |
probably benign |
0.03 |
|
R6885:Aox4
|
UTSW |
1 |
58,264,378 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7082:Aox4
|
UTSW |
1 |
58,224,193 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R7127:Aox4
|
UTSW |
1 |
58,228,874 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7153:Aox4
|
UTSW |
1 |
58,250,219 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7371:Aox4
|
UTSW |
1 |
58,263,854 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7690:Aox4
|
UTSW |
1 |
58,263,917 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7745:Aox4
|
UTSW |
1 |
58,240,707 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7752:Aox4
|
UTSW |
1 |
58,253,948 (GRCm38) |
missense |
not run |
|
|
R7767:Aox4
|
UTSW |
1 |
58,235,207 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7782:Aox4
|
UTSW |
1 |
58,231,092 (GRCm38) |
splice site |
probably null |
|
|
R7931:Aox4
|
UTSW |
1 |
58,255,486 (GRCm38) |
missense |
probably benign |
0.07 |
|
R7978:Aox4
|
UTSW |
1 |
58,235,207 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7982:Aox4
|
UTSW |
1 |
58,257,241 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R8316:Aox4
|
UTSW |
1 |
58,254,311 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R8361:Aox4
|
UTSW |
1 |
58,240,839 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8829:Aox4
|
UTSW |
1 |
58,255,490 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8832:Aox4
|
UTSW |
1 |
58,255,490 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8896:Aox4
|
UTSW |
1 |
58,252,074 (GRCm38) |
missense |
probably benign |
|
|
R9103:Aox4
|
UTSW |
1 |
58,257,282 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9241:Aox4
|
UTSW |
1 |
58,252,186 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9282:Aox4
|
UTSW |
1 |
58,245,869 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R9487:Aox4
|
UTSW |
1 |
58,248,938 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9493:Aox4
|
UTSW |
1 |
58,247,275 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9557:Aox4
|
UTSW |
1 |
58,245,936 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9616:Aox4
|
UTSW |
1 |
58,228,861 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R9644:Aox4
|
UTSW |
1 |
58,228,119 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9683:Aox4
|
UTSW |
1 |
58,239,303 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9727:Aox4
|
UTSW |
1 |
58,247,314 (GRCm38) |
missense |
probably benign |
0.43 |
|
R9767:Aox4
|
UTSW |
1 |
58,235,198 (GRCm38) |
missense |
probably benign |
0.05 |
|
X0021:Aox4
|
UTSW |
1 |
58,247,295 (GRCm38) |
nonsense |
probably null |
|
|
X0028:Aox4
|
UTSW |
1 |
58,254,183 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Z1176:Aox4
|
UTSW |
1 |
58,246,351 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTTGGGGAAATATAGCCCTG -3'
(R):5'- TGTCTTACAGTCAAGGACAGCC -3'
Sequencing Primer
(F):5'- TGGGGAAATATAGCCCTGTCATCC -3'
(R):5'- TTACAGTCAAGGACAGCCTCTTG -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation