Incidental Mutation 'IGL00902:Uox'
| ID |
27072 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Uox
|
| Ensembl Gene |
ENSMUSG00000028186 |
| Gene Name |
urate oxidase |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.449)
|
| Stock # |
IGL00902
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
146302904-146337238 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 146316161 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 32
(D32G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143418
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029837]
[ENSMUST00000121133]
[ENSMUST00000147409]
[ENSMUST00000199489]
[ENSMUST00000200633]
|
| AlphaFold |
P25688 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029837
AA Change: D56G
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000029837
Gene: ENSMUSG00000028186
AA Change: D56G
| 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 benign
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 |
noncoding transcript
Transcript: ENSMUST00000138921
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000147409
AA Change: D32G
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000143299
Gene: ENSMUSG00000028186
AA Change: D32G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Uricase
|
1 |
73 |
1.1e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197320
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000199489
AA Change: D32G
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000143418
Gene: ENSMUSG00000028186
AA Change: D32G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Uricase
|
1 |
121 |
8.3e-35 |
PFAM |
|
Pfam:Uricase
|
128 |
228 |
1.8e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200633
|
| SMART Domains |
Protein: ENSMUSP00000142872
Gene: ENSMUSG00000028185
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:DNase_II
|
26 |
353 |
4.5e-117 |
PFAM |
|
| Coding Region Coverage |
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts7 |
T |
G |
9: 90,070,847 (GRCm39) |
|
probably null |
Het |
| Akap11 |
A |
G |
14: 78,733,278 (GRCm39) |
S1876P |
probably benign |
Het |
| Bltp1 |
G |
A |
3: 37,095,494 (GRCm39) |
G1001D |
probably damaging |
Het |
| Capn10 |
A |
G |
1: 92,870,281 (GRCm39) |
I256V |
probably benign |
Het |
| Catsperg2 |
T |
A |
7: 29,400,568 (GRCm39) |
H262L |
possibly damaging |
Het |
| Col22a1 |
C |
A |
15: 71,836,508 (GRCm39) |
G509V |
probably damaging |
Het |
| Dab2ip |
T |
C |
2: 35,607,124 (GRCm39) |
F523S |
probably damaging |
Het |
| Dbnl |
G |
T |
11: 5,748,105 (GRCm39) |
A313S |
probably benign |
Het |
| Ddo |
T |
C |
10: 40,523,550 (GRCm39) |
V180A |
probably damaging |
Het |
| Enox1 |
A |
G |
14: 77,819,844 (GRCm39) |
M200V |
possibly damaging |
Het |
| Fabp6 |
G |
A |
11: 43,489,543 (GRCm39) |
R33C |
probably damaging |
Het |
| Gm9104 |
T |
C |
17: 45,776,940 (GRCm39) |
|
probably benign |
Het |
| Gspt1 |
C |
T |
16: 11,050,443 (GRCm39) |
V303I |
probably damaging |
Het |
| Igf2r |
C |
T |
17: 12,919,245 (GRCm39) |
C1469Y |
probably damaging |
Het |
| Igflr1 |
T |
C |
7: 30,266,700 (GRCm39) |
S183P |
possibly damaging |
Het |
| Itga6 |
T |
C |
2: 71,679,738 (GRCm39) |
V1001A |
probably benign |
Het |
| Itih1 |
G |
A |
14: 30,654,439 (GRCm39) |
|
probably benign |
Het |
| Itprid2 |
G |
A |
2: 79,490,822 (GRCm39) |
R980Q |
probably damaging |
Het |
| Krt86 |
C |
T |
15: 101,371,741 (GRCm39) |
H104Y |
probably benign |
Het |
| Lrp5 |
T |
C |
19: 3,650,774 (GRCm39) |
N1220S |
probably damaging |
Het |
| Marchf6 |
A |
G |
15: 31,485,124 (GRCm39) |
Y434H |
probably damaging |
Het |
| Mbd1 |
A |
G |
18: 74,408,310 (GRCm39) |
Y211C |
possibly damaging |
Het |
| Mpeg1 |
C |
A |
19: 12,439,133 (GRCm39) |
A197D |
probably damaging |
Het |
| Mroh2b |
T |
A |
15: 4,944,704 (GRCm39) |
L435Q |
probably damaging |
Het |
| Mss51 |
A |
C |
14: 20,536,235 (GRCm39) |
M160R |
probably damaging |
Het |
| Ndufs7 |
T |
G |
10: 80,091,839 (GRCm39) |
Y190* |
probably null |
Het |
| Or6c38 |
T |
A |
10: 128,929,265 (GRCm39) |
I193L |
probably benign |
Het |
| Or9g4b |
T |
C |
2: 85,616,461 (GRCm39) |
M202T |
probably benign |
Het |
| Pcdh17 |
A |
G |
14: 84,684,289 (GRCm39) |
E252G |
probably damaging |
Het |
| Ric1 |
T |
C |
19: 29,544,631 (GRCm39) |
V151A |
probably benign |
Het |
| Sgo2a |
A |
G |
1: 58,055,258 (GRCm39) |
T481A |
probably benign |
Het |
| Slc5a8 |
A |
G |
10: 88,755,323 (GRCm39) |
T477A |
probably benign |
Het |
| Smg5 |
G |
A |
3: 88,260,392 (GRCm39) |
V661I |
probably benign |
Het |
| Snx19 |
A |
T |
9: 30,340,028 (GRCm39) |
I389F |
possibly damaging |
Het |
| Spem1 |
A |
T |
11: 69,712,643 (GRCm39) |
I64N |
probably damaging |
Het |
| Thada |
A |
T |
17: 84,755,404 (GRCm39) |
M262K |
probably damaging |
Het |
| Usp42 |
A |
T |
5: 143,705,629 (GRCm39) |
|
probably benign |
Het |
| Usp43 |
G |
A |
11: 67,782,245 (GRCm39) |
P391L |
probably benign |
Het |
| Vmn2r56 |
T |
C |
7: 12,449,426 (GRCm39) |
S271G |
probably benign |
Het |
| Wdr64 |
T |
A |
1: 175,556,391 (GRCm39) |
C213S |
probably damaging |
Het |
| Zfp26 |
A |
T |
9: 20,350,844 (GRCm39) |
S194T |
possibly damaging |
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 |
|
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 |
|
|
R6556:Uox
|
UTSW |
3 |
146,330,403 (GRCm39) |
critical splice donor site |
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 |
|
| Posted On |
2013-04-17 |
Incidental Mutation