Incidental Mutation 'R4809:Aox4'
ID |
370864 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aox4
|
Ensembl Gene |
ENSMUSG00000038242 |
Gene Name |
aldehyde oxidase 4 |
Synonyms |
AOH2, 2310003G12Rik |
MMRRC Submission |
042428-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4809 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
58249556-58307756 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 58305808 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 1271
(F1271I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048929
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040442]
|
AlphaFold |
Q3TYQ9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000040442
AA Change: F1271I
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000048929 Gene: ENSMUSG00000038242 AA Change: F1271I
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
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
Validation Efficiency |
96% (96/100) |
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: 87 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
A |
G |
14: 32,384,588 (GRCm39) |
V459A |
probably benign |
Het |
Abca12 |
C |
T |
1: 71,318,015 (GRCm39) |
A1840T |
probably benign |
Het |
Abhd6 |
T |
G |
14: 8,039,771 (GRCm38) |
M1R |
probably null |
Het |
Abl1 |
T |
C |
2: 31,690,254 (GRCm39) |
L572P |
probably damaging |
Het |
Adamts2 |
C |
A |
11: 50,694,517 (GRCm39) |
S1101R |
probably benign |
Het |
Adgra2 |
G |
A |
8: 27,600,507 (GRCm39) |
W200* |
probably null |
Het |
AI661453 |
C |
A |
17: 47,778,112 (GRCm39) |
|
probably benign |
Het |
Aldh1l2 |
A |
G |
10: 83,342,496 (GRCm39) |
F438S |
probably damaging |
Het |
Ankrd49 |
G |
A |
9: 14,692,510 (GRCm39) |
T218I |
possibly damaging |
Het |
Ano7 |
T |
C |
1: 93,322,288 (GRCm39) |
F410L |
probably benign |
Het |
Aqr |
T |
C |
2: 114,005,695 (GRCm39) |
|
probably benign |
Het |
Arhgap42 |
A |
G |
9: 9,180,118 (GRCm39) |
S54P |
probably damaging |
Het |
Aunip |
C |
A |
4: 134,238,450 (GRCm39) |
D16E |
possibly damaging |
Het |
Btbd7 |
A |
G |
12: 102,760,003 (GRCm39) |
|
probably null |
Het |
Cabp4 |
T |
C |
19: 4,189,290 (GRCm39) |
H89R |
probably benign |
Het |
Ccni |
AAA |
AAACTAA |
5: 93,335,429 (GRCm39) |
|
probably benign |
Het |
Chfr |
C |
T |
5: 110,306,700 (GRCm39) |
H410Y |
probably damaging |
Het |
Churc1 |
C |
A |
12: 76,829,671 (GRCm39) |
L111M |
probably damaging |
Het |
Clasp1 |
C |
T |
1: 118,388,980 (GRCm39) |
T113I |
probably benign |
Het |
Col12a1 |
T |
A |
9: 79,600,849 (GRCm39) |
Q745L |
probably benign |
Het |
Col20a1 |
T |
C |
2: 180,640,454 (GRCm39) |
L537P |
probably damaging |
Het |
Creb5 |
A |
T |
6: 53,587,411 (GRCm39) |
E47V |
probably null |
Het |
Csnk1d |
A |
T |
11: 120,854,668 (GRCm39) |
|
probably benign |
Het |
Cts6 |
A |
T |
13: 61,349,995 (GRCm39) |
W29R |
probably damaging |
Het |
Dbt |
T |
A |
3: 116,339,992 (GRCm39) |
I420N |
probably damaging |
Het |
Det1 |
C |
A |
7: 78,493,555 (GRCm39) |
D150Y |
probably damaging |
Het |
Dlk2 |
A |
G |
17: 46,609,940 (GRCm39) |
|
probably null |
Het |
Dnmt3a |
A |
T |
12: 3,950,352 (GRCm39) |
I639F |
probably damaging |
Het |
Dock9 |
A |
T |
14: 121,784,008 (GRCm39) |
Y1989N |
probably benign |
Het |
Dsg4 |
A |
T |
18: 20,599,678 (GRCm39) |
T765S |
possibly damaging |
Het |
Entrep2 |
G |
A |
7: 64,426,488 (GRCm39) |
T159I |
probably damaging |
Het |
Epha5 |
C |
T |
5: 84,253,750 (GRCm39) |
D548N |
possibly damaging |
Het |
Fam227b |
T |
A |
2: 125,958,045 (GRCm39) |
Y240F |
possibly damaging |
Het |
Fbxw21 |
C |
T |
9: 108,972,458 (GRCm39) |
V395I |
probably damaging |
Het |
Fn1 |
C |
A |
1: 71,691,959 (GRCm39) |
|
probably benign |
Het |
Fpr-rs3 |
A |
T |
17: 20,844,683 (GRCm39) |
S153T |
probably benign |
Het |
Frem2 |
A |
G |
3: 53,561,316 (GRCm39) |
F1064L |
probably benign |
Het |
Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
Gjd2 |
C |
T |
2: 113,842,022 (GRCm39) |
G152R |
probably damaging |
Het |
Gpr75 |
T |
C |
11: 30,842,154 (GRCm39) |
I353T |
possibly damaging |
Het |
Grb7 |
T |
C |
11: 98,342,262 (GRCm39) |
V145A |
possibly damaging |
Het |
Igkv4-73 |
G |
A |
6: 69,174,807 (GRCm39) |
R40W |
unknown |
Het |
Kif1c |
C |
T |
11: 70,617,183 (GRCm39) |
A839V |
probably benign |
Het |
Krt31 |
G |
A |
11: 99,940,748 (GRCm39) |
A125V |
possibly damaging |
Het |
Lamb1 |
A |
G |
12: 31,328,525 (GRCm39) |
Y163C |
probably damaging |
Het |
Mars1 |
G |
T |
10: 127,136,084 (GRCm39) |
T535K |
probably damaging |
Het |
Mdc1 |
T |
C |
17: 36,159,993 (GRCm39) |
|
probably null |
Het |
Micos10 |
C |
G |
4: 138,858,268 (GRCm39) |
W10S |
probably damaging |
Het |
Micu1 |
C |
T |
10: 59,576,644 (GRCm39) |
H167Y |
probably benign |
Het |
Mrgprb1 |
C |
T |
7: 48,097,739 (GRCm39) |
V58I |
possibly damaging |
Het |
Ncoa7 |
T |
A |
10: 30,647,758 (GRCm39) |
E6V |
possibly damaging |
Het |
Nectin3 |
A |
C |
16: 46,268,523 (GRCm39) |
|
probably benign |
Het |
Or13a18 |
A |
G |
7: 140,190,987 (GRCm39) |
K295E |
probably damaging |
Het |
Or4k44 |
C |
T |
2: 111,367,956 (GRCm39) |
C226Y |
probably benign |
Het |
Or52ab7 |
T |
A |
7: 102,977,730 (GRCm39) |
Y12* |
probably null |
Het |
Or8k38 |
T |
A |
2: 86,488,029 (GRCm39) |
M258L |
possibly damaging |
Het |
Pex16 |
T |
C |
2: 92,206,983 (GRCm39) |
S54P |
probably damaging |
Het |
Pik3cg |
A |
T |
12: 32,254,080 (GRCm39) |
S636T |
possibly damaging |
Het |
Plin5 |
A |
G |
17: 56,423,855 (GRCm39) |
S27P |
probably benign |
Het |
Ptch1 |
A |
T |
13: 63,661,522 (GRCm39) |
D1068E |
probably damaging |
Het |
Ptprq |
T |
C |
10: 107,399,036 (GRCm39) |
T1960A |
probably damaging |
Het |
Rap1gap2 |
T |
C |
11: 74,298,800 (GRCm39) |
|
probably benign |
Het |
Rcc2 |
G |
A |
4: 140,444,353 (GRCm39) |
R348Q |
probably damaging |
Het |
Rhbdd3 |
C |
A |
11: 5,055,949 (GRCm39) |
A377D |
probably damaging |
Het |
Rpl7 |
T |
G |
1: 16,172,189 (GRCm39) |
|
probably benign |
Het |
Scn11a |
G |
T |
9: 119,648,936 (GRCm39) |
D42E |
probably benign |
Het |
Scube3 |
C |
T |
17: 28,384,147 (GRCm39) |
R549W |
probably damaging |
Het |
Sil1 |
A |
T |
18: 35,458,428 (GRCm39) |
M189K |
probably damaging |
Het |
Slc39a6 |
G |
A |
18: 24,718,531 (GRCm39) |
Q225* |
probably null |
Het |
Slc7a15 |
A |
T |
12: 8,589,002 (GRCm39) |
C182S |
probably benign |
Het |
Spata21 |
G |
A |
4: 140,824,431 (GRCm39) |
|
probably null |
Het |
Stim2 |
T |
C |
5: 54,267,955 (GRCm39) |
V417A |
probably damaging |
Het |
Szt2 |
T |
C |
4: 118,246,182 (GRCm39) |
D993G |
probably damaging |
Het |
Tet3 |
A |
G |
6: 83,379,928 (GRCm39) |
S747P |
probably benign |
Het |
Tmem86a |
C |
G |
7: 46,702,678 (GRCm39) |
S34R |
possibly damaging |
Het |
Top2b |
T |
A |
14: 16,383,125 (GRCm38) |
S38T |
probably benign |
Het |
Trim33 |
A |
T |
3: 103,236,572 (GRCm39) |
T561S |
possibly damaging |
Het |
Ttc39a |
C |
T |
4: 109,273,218 (GRCm39) |
Q25* |
probably null |
Het |
Urb1 |
A |
G |
16: 90,556,730 (GRCm39) |
I1816T |
possibly damaging |
Het |
Usp24 |
T |
C |
4: 106,270,873 (GRCm39) |
|
probably null |
Het |
Usp36 |
A |
C |
11: 118,153,896 (GRCm39) |
L840R |
probably damaging |
Het |
Usp50 |
C |
A |
2: 126,619,773 (GRCm39) |
|
probably benign |
Het |
Vangl2 |
A |
G |
1: 171,837,230 (GRCm39) |
V193A |
possibly damaging |
Het |
Vmn1r62 |
T |
A |
7: 5,678,866 (GRCm39) |
H182Q |
probably benign |
Het |
Vmn2r124 |
A |
T |
17: 18,294,007 (GRCm39) |
Y698F |
probably benign |
Het |
Wls |
C |
T |
3: 159,603,082 (GRCm39) |
T165I |
probably benign |
Het |
Zfp808 |
G |
T |
13: 62,319,106 (GRCm39) |
E112* |
probably null |
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 |
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 |
R5185:Aox4
|
UTSW |
1 |
58,293,477 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- GGTACTCTCAAAGGAACCCC -3'
(R):5'- CATGTATGGGCTGAGGACAG -3'
Sequencing Primer
(F):5'- CCACTCACAAATTACTATGAGGGGG -3'
(R):5'- CTGAGGACAGTAGGGACTTCC -3'
|
Posted On |
2016-02-04 |