Incidental Mutation 'R6556:Uox'
| ID |
522142 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Uox
|
| Ensembl Gene |
ENSMUSG00000028186 |
| Gene Name |
urate oxidase |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.449)
|
| Stock # |
R6556 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
146302904-146337238 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to C
at 146330403 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143418
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029837]
[ENSMUST00000121133]
[ENSMUST00000199489]
|
| AlphaFold |
P25688 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029837
|
| SMART Domains |
Protein: ENSMUSP00000029837
Gene: ENSMUSG00000028186
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Uricase
|
19 |
144 |
8.7e-25 |
PFAM |
|
Pfam:Uricase
|
153 |
292 |
5.6e-38 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000121133
|
| SMART Domains |
Protein: ENSMUSP00000113649
Gene: ENSMUSG00000028186
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Uricase
|
2 |
72 |
1.2e-19 |
PFAM |
|
Pfam:Uricase
|
79 |
181 |
8.5e-23 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000199489
|
| SMART Domains |
Protein: ENSMUSP00000143418
Gene: ENSMUSG00000028186
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Uricase
|
1 |
121 |
8.3e-35 |
PFAM |
|
Pfam:Uricase
|
128 |
228 |
1.8e-19 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous null mutants exhibit marked hyperuricemia and urate nephropathy. Most mutants die prior to four weeks of age. Homozygotes for a large paracentric inversion disrupting this same gene exhibit a similar phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atosb |
C |
T |
4: 43,033,896 (GRCm39) |
R460H |
probably damaging |
Het |
| Atp2a1 |
G |
T |
7: 126,049,434 (GRCm39) |
P536Q |
probably benign |
Het |
| Bnip5 |
T |
A |
17: 29,123,585 (GRCm39) |
D114V |
probably damaging |
Het |
| Cabyr |
T |
A |
18: 12,884,073 (GRCm39) |
S187T |
probably benign |
Het |
| Camkk1 |
A |
T |
11: 72,924,696 (GRCm39) |
N303I |
probably benign |
Het |
| Cdh13 |
C |
T |
8: 119,694,926 (GRCm39) |
P259S |
probably damaging |
Het |
| Csnk1g3 |
A |
G |
18: 54,063,354 (GRCm39) |
D255G |
possibly damaging |
Het |
| Dennd5b |
A |
C |
6: 148,915,749 (GRCm39) |
|
probably null |
Het |
| Dnajc14 |
A |
G |
10: 128,650,500 (GRCm39) |
D528G |
probably benign |
Het |
| Edem1 |
T |
C |
6: 108,831,318 (GRCm39) |
F593S |
probably benign |
Het |
| Efcab3 |
A |
G |
11: 104,899,077 (GRCm39) |
N4343S |
probably null |
Het |
| Erbb2 |
G |
A |
11: 98,326,908 (GRCm39) |
D1106N |
possibly damaging |
Het |
| Ermp1 |
T |
C |
19: 29,590,321 (GRCm39) |
M794V |
possibly damaging |
Het |
| Fip1l1 |
T |
A |
5: 74,707,838 (GRCm39) |
|
probably null |
Het |
| Gm20730 |
C |
T |
6: 43,058,476 (GRCm39) |
C112Y |
probably damaging |
Het |
| Gtf2h1 |
T |
A |
7: 46,458,089 (GRCm39) |
C245S |
probably damaging |
Het |
| Hdhd5 |
T |
C |
6: 120,500,515 (GRCm39) |
H61R |
probably benign |
Het |
| Ighv1-71 |
A |
T |
12: 115,706,092 (GRCm39) |
V31E |
probably damaging |
Het |
| Igsf9b |
T |
C |
9: 27,240,851 (GRCm39) |
F688S |
probably damaging |
Het |
| Iqcd |
T |
C |
5: 120,740,443 (GRCm39) |
V258A |
probably damaging |
Het |
| Kcnc2 |
G |
C |
10: 112,107,761 (GRCm39) |
G51R |
probably benign |
Het |
| Lpo |
G |
T |
11: 87,708,589 (GRCm39) |
Y136* |
probably null |
Het |
| Med30 |
A |
G |
15: 52,593,779 (GRCm39) |
|
probably benign |
Het |
| Mertk |
T |
A |
2: 128,618,341 (GRCm39) |
V524D |
probably benign |
Het |
| Ndufb11b |
A |
G |
15: 81,864,939 (GRCm39) |
D60G |
probably damaging |
Het |
| Or4c126 |
T |
A |
2: 89,824,517 (GRCm39) |
F260Y |
probably benign |
Het |
| Or4c52 |
T |
C |
2: 89,845,438 (GRCm39) |
Y55H |
probably damaging |
Het |
| Or5l13 |
T |
C |
2: 87,780,320 (GRCm39) |
I86V |
probably benign |
Het |
| Pde6b |
T |
A |
5: 108,569,367 (GRCm39) |
M358K |
possibly damaging |
Het |
| Prep |
GA |
G |
10: 45,034,410 (GRCm39) |
|
probably null |
Het |
| Prpf4b |
G |
A |
13: 35,080,015 (GRCm39) |
R793Q |
probably damaging |
Het |
| Rela |
T |
A |
19: 5,697,366 (GRCm39) |
N524K |
probably damaging |
Het |
| Relch |
T |
A |
1: 105,654,165 (GRCm39) |
F845I |
probably damaging |
Het |
| Rnaset2a |
T |
C |
17: 8,360,480 (GRCm39) |
D74G |
probably damaging |
Het |
| Semp2l2a |
G |
A |
8: 13,887,690 (GRCm39) |
Q134* |
probably null |
Het |
| Serinc2 |
T |
A |
4: 130,152,064 (GRCm39) |
I267F |
probably damaging |
Het |
| Sesn3 |
T |
C |
9: 14,232,549 (GRCm39) |
F274S |
possibly damaging |
Het |
| Spag1 |
T |
C |
15: 36,195,553 (GRCm39) |
Y249H |
probably damaging |
Het |
| Sstr1 |
A |
T |
12: 58,260,478 (GRCm39) |
D367V |
possibly damaging |
Het |
| Tasor |
T |
G |
14: 27,151,215 (GRCm39) |
Y64D |
probably benign |
Het |
| Tnnt1 |
T |
C |
7: 4,512,576 (GRCm39) |
E110G |
probably damaging |
Het |
| Tpm1 |
T |
A |
9: 66,935,451 (GRCm39) |
|
probably null |
Het |
| Unc93b1 |
T |
C |
19: 3,994,105 (GRCm39) |
V412A |
probably benign |
Het |
| Usp44 |
T |
C |
10: 93,681,870 (GRCm39) |
Y107H |
probably benign |
Het |
|
| Other mutations in Uox |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00417:Uox
|
APN |
3 |
146,333,565 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00902:Uox
|
APN |
3 |
146,316,161 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02409:Uox
|
APN |
3 |
146,330,381 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02827:Uox
|
APN |
3 |
146,302,951 (GRCm39) |
intron |
probably benign |
|
|
IGL02979:Uox
|
APN |
3 |
146,316,246 (GRCm39) |
splice site |
probably null |
|
|
IGL03375:Uox
|
APN |
3 |
146,331,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
kamloops
|
UTSW |
3 |
146,330,332 (GRCm39) |
nonsense |
probably null |
|
|
vancouver
|
UTSW |
3 |
146,318,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1350:Uox
|
UTSW |
3 |
146,330,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1634:Uox
|
UTSW |
3 |
146,318,138 (GRCm39) |
nonsense |
probably null |
|
|
R1900:Uox
|
UTSW |
3 |
146,316,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2000:Uox
|
UTSW |
3 |
146,316,154 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R2119:Uox
|
UTSW |
3 |
146,318,297 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5329:Uox
|
UTSW |
3 |
146,330,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5606:Uox
|
UTSW |
3 |
146,316,057 (GRCm39) |
nonsense |
probably null |
|
|
R6281:Uox
|
UTSW |
3 |
146,330,332 (GRCm39) |
nonsense |
probably null |
|
|
R6327:Uox
|
UTSW |
3 |
146,330,332 (GRCm39) |
nonsense |
probably null |
|
|
R6337:Uox
|
UTSW |
3 |
146,330,332 (GRCm39) |
nonsense |
probably null |
|
|
R6364:Uox
|
UTSW |
3 |
146,330,332 (GRCm39) |
nonsense |
probably null |
|
|
R6365:Uox
|
UTSW |
3 |
146,330,332 (GRCm39) |
nonsense |
probably null |
|
|
R6369:Uox
|
UTSW |
3 |
146,330,332 (GRCm39) |
nonsense |
probably null |
|
|
R6483:Uox
|
UTSW |
3 |
146,330,332 (GRCm39) |
nonsense |
probably null |
|
|
R6492:Uox
|
UTSW |
3 |
146,330,332 (GRCm39) |
nonsense |
probably null |
|
|
R6494:Uox
|
UTSW |
3 |
146,330,332 (GRCm39) |
nonsense |
probably null |
|
|
R6803:Uox
|
UTSW |
3 |
146,318,264 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7809:Uox
|
UTSW |
3 |
146,333,613 (GRCm39) |
nonsense |
probably null |
|
|
R7868:Uox
|
UTSW |
3 |
146,316,029 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8131:Uox
|
UTSW |
3 |
146,331,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8931:Uox
|
UTSW |
3 |
146,318,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9088:Uox
|
UTSW |
3 |
146,330,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9566:Uox
|
UTSW |
3 |
146,330,308 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACTCTGGAATCAAAGACCTC -3'
(R):5'- GCATGTATGTCTGAGAGTCACTG -3'
Sequencing Primer
(F):5'- CAAGGTCTTGAAAACAACCCAGTCTG -3'
(R):5'- GAAACACCATCTGGAGTTGTTCG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation