Incidental Mutation 'R6513:Aox4'
ID |
519977 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aox4
|
Ensembl Gene |
ENSMUSG00000038242 |
Gene Name |
aldehyde oxidase 4 |
Synonyms |
AOH2, 2310003G12Rik |
MMRRC Submission |
044640-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6513 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
58249556-58307756 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 58252212 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 29
(N29S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048929
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040442]
|
AlphaFold |
Q3TYQ9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040442
AA Change: N29S
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000048929 Gene: ENSMUSG00000038242 AA Change: N29S
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189059
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.4%
|
Validation Efficiency |
98% (62/63) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932438H23Rik |
T |
C |
16: 90,852,654 (GRCm39) |
S161G |
probably benign |
Het |
Ankfy1 |
G |
A |
11: 72,621,308 (GRCm39) |
R198Q |
possibly damaging |
Het |
Ankrd11 |
A |
G |
8: 123,616,919 (GRCm39) |
V2290A |
probably benign |
Het |
Arhgap17 |
T |
C |
7: 122,891,379 (GRCm39) |
R592G |
possibly damaging |
Het |
Caap1 |
A |
T |
4: 94,389,640 (GRCm39) |
D231E |
possibly damaging |
Het |
Cabp1 |
T |
A |
5: 115,307,193 (GRCm39) |
M165L |
possibly damaging |
Het |
Calhm4 |
T |
A |
10: 33,917,630 (GRCm39) |
R274* |
probably null |
Het |
Cep72 |
A |
T |
13: 74,206,582 (GRCm39) |
L73H |
probably damaging |
Het |
Cfap74 |
A |
G |
4: 155,525,743 (GRCm39) |
S731G |
probably null |
Het |
Dsc2 |
T |
C |
18: 20,179,295 (GRCm39) |
I258V |
probably benign |
Het |
Dsg1c |
T |
G |
18: 20,407,687 (GRCm39) |
N344K |
probably benign |
Het |
Enah |
A |
G |
1: 181,841,920 (GRCm39) |
|
probably benign |
Het |
Fbn1 |
T |
A |
2: 125,225,591 (GRCm39) |
S554C |
probably damaging |
Het |
Fkrp |
C |
A |
7: 16,545,037 (GRCm39) |
R275L |
possibly damaging |
Het |
Gbp4 |
C |
T |
5: 105,270,986 (GRCm39) |
G215D |
possibly damaging |
Het |
Gli2 |
G |
A |
1: 118,783,284 (GRCm39) |
L239F |
probably damaging |
Het |
Gpr146 |
A |
G |
5: 139,378,573 (GRCm39) |
D125G |
probably damaging |
Het |
Hectd4 |
C |
A |
5: 121,494,259 (GRCm39) |
|
probably null |
Het |
Invs |
G |
A |
4: 48,397,534 (GRCm39) |
V370I |
possibly damaging |
Het |
Kdm2b |
A |
G |
5: 123,018,302 (GRCm39) |
V1040A |
probably damaging |
Het |
Kidins220 |
T |
A |
12: 25,088,434 (GRCm39) |
V1059D |
possibly damaging |
Het |
Kif26a |
T |
A |
12: 112,141,926 (GRCm39) |
S727T |
probably damaging |
Het |
Kifbp |
T |
C |
10: 62,410,813 (GRCm39) |
|
probably null |
Het |
Klk1b27 |
A |
G |
7: 43,705,169 (GRCm39) |
H112R |
probably benign |
Het |
Krt72 |
T |
G |
15: 101,685,187 (GRCm39) |
|
probably null |
Het |
Lactb |
C |
T |
9: 66,878,172 (GRCm39) |
R219H |
probably damaging |
Het |
Lrig2 |
A |
T |
3: 104,373,045 (GRCm39) |
I612N |
probably damaging |
Het |
Meaf6 |
A |
C |
4: 124,983,697 (GRCm39) |
N51T |
probably damaging |
Het |
Mtap |
A |
G |
4: 89,066,498 (GRCm39) |
T36A |
possibly damaging |
Het |
Myo3a |
G |
A |
2: 22,412,143 (GRCm39) |
G713S |
probably damaging |
Het |
Nr4a3 |
C |
T |
4: 48,083,255 (GRCm39) |
T596I |
probably damaging |
Het |
Or10ak14 |
A |
T |
4: 118,611,224 (GRCm39) |
C172* |
probably null |
Het |
Or4f14 |
C |
G |
2: 111,743,228 (GRCm39) |
G16R |
possibly damaging |
Het |
Pam |
A |
G |
1: 97,765,752 (GRCm39) |
V759A |
possibly damaging |
Het |
Pcare |
T |
A |
17: 72,051,701 (GRCm39) |
E1217V |
probably damaging |
Het |
Pds5a |
T |
A |
5: 65,772,944 (GRCm39) |
I1220F |
probably benign |
Het |
Phldb2 |
T |
A |
16: 45,568,240 (GRCm39) |
M1222L |
possibly damaging |
Het |
Phospho1 |
C |
T |
11: 95,721,513 (GRCm39) |
A61V |
possibly damaging |
Het |
Pnpla7 |
G |
A |
2: 24,906,550 (GRCm39) |
V638I |
possibly damaging |
Het |
Pramel34 |
C |
A |
5: 93,785,391 (GRCm39) |
|
probably null |
Het |
Ptf1a |
T |
A |
2: 19,451,848 (GRCm39) |
D282E |
probably damaging |
Het |
Ptgs2 |
A |
T |
1: 149,975,879 (GRCm39) |
|
probably benign |
Het |
Racgap1 |
T |
C |
15: 99,522,156 (GRCm39) |
R471G |
probably damaging |
Het |
Rptn |
T |
C |
3: 93,303,419 (GRCm39) |
S251P |
possibly damaging |
Het |
Shcbp1 |
T |
C |
8: 4,794,507 (GRCm39) |
M429V |
probably benign |
Het |
Shprh |
T |
C |
10: 11,062,637 (GRCm39) |
L1248P |
probably damaging |
Het |
Son |
T |
C |
16: 91,456,835 (GRCm39) |
|
probably benign |
Het |
Sppl3 |
T |
C |
5: 115,233,995 (GRCm39) |
L355P |
probably damaging |
Het |
Tbc1d31 |
A |
T |
15: 57,818,778 (GRCm39) |
R794W |
probably damaging |
Het |
Telo2 |
T |
C |
17: 25,320,386 (GRCm39) |
Y766C |
probably damaging |
Het |
Tfr2 |
A |
G |
5: 137,572,793 (GRCm39) |
|
probably null |
Het |
Tle4 |
T |
C |
19: 14,429,056 (GRCm39) |
D722G |
probably damaging |
Het |
Tprg1l |
A |
G |
4: 154,243,862 (GRCm39) |
V98A |
probably benign |
Het |
Trak1 |
C |
T |
9: 121,272,822 (GRCm39) |
R237C |
probably benign |
Het |
Vmn2r113 |
T |
C |
17: 23,177,715 (GRCm39) |
I833T |
probably damaging |
Het |
Vmn2r118 |
T |
A |
17: 55,915,093 (GRCm39) |
S518C |
probably damaging |
Het |
Vmn2r49 |
A |
G |
7: 9,710,524 (GRCm39) |
I736T |
probably damaging |
Het |
Wdr38 |
T |
A |
2: 38,889,970 (GRCm39) |
|
probably null |
Het |
Wee2 |
A |
G |
6: 40,429,553 (GRCm39) |
E180G |
probably benign |
Het |
Zbtb1 |
T |
C |
12: 76,432,604 (GRCm39) |
S197P |
possibly damaging |
Het |
Zc3h7a |
T |
C |
16: 10,976,629 (GRCm39) |
|
probably null |
Het |
Zfp516 |
T |
A |
18: 82,973,835 (GRCm39) |
L11Q |
probably damaging |
Het |
Zfp623 |
G |
A |
15: 75,819,317 (GRCm39) |
R91H |
probably benign |
Het |
Zkscan7 |
G |
A |
9: 122,725,170 (GRCm39) |
R713Q |
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 |
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 |
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'- AACGTCACTGTTTCTTCAGACC -3'
(R):5'- TTGCTTACCTAGAGGGAACGC -3'
Sequencing Primer
(F):5'- CTTCAGACCTTTGGTTCCAAAAATC -3'
(R):5'- TGCCTCCCAAGTGCTAGGATTAAAG -3'
|
Posted On |
2018-06-06 |