Incidental Mutation 'IGL03375:Uox'
| ID |
420461 |
| 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 # |
IGL03375
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
146302904-146337238 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 146331590 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 213
(T213I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143418
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029837]
[ENSMUST00000121133]
[ENSMUST00000199489]
|
| AlphaFold |
P25688 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029837
AA Change: T237I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029837
Gene: ENSMUSG00000028186
AA Change: T237I
| 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 damaging
Transcript: ENSMUST00000121133
AA Change: T164I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113649
Gene: ENSMUSG00000028186
AA Change: T164I
| 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 damaging
Transcript: ENSMUST00000199489
AA Change: T213I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143418
Gene: ENSMUSG00000028186
AA Change: T213I
| 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 |
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap31 |
A |
G |
16: 38,423,190 (GRCm39) |
S959P |
probably damaging |
Het |
| Arrb2 |
G |
A |
11: 70,327,005 (GRCm39) |
G24D |
probably damaging |
Het |
| Catsper4 |
A |
G |
4: 133,945,519 (GRCm39) |
I180T |
probably damaging |
Het |
| Chst15 |
G |
A |
7: 131,872,186 (GRCm39) |
Q32* |
probably null |
Het |
| Cntnap5c |
A |
T |
17: 58,469,200 (GRCm39) |
Y594F |
possibly damaging |
Het |
| Cse1l |
T |
A |
2: 166,784,977 (GRCm39) |
|
probably benign |
Het |
| Dab1 |
A |
T |
4: 104,538,798 (GRCm39) |
I201F |
possibly damaging |
Het |
| Eif2ak4 |
T |
C |
2: 118,252,799 (GRCm39) |
V457A |
probably benign |
Het |
| Fkbp1b |
T |
C |
12: 4,888,220 (GRCm39) |
|
probably benign |
Het |
| Fryl |
C |
A |
5: 73,245,792 (GRCm39) |
V1122F |
possibly damaging |
Het |
| Gas2l2 |
A |
G |
11: 83,317,036 (GRCm39) |
|
probably benign |
Het |
| Gstt2 |
A |
T |
10: 75,668,655 (GRCm39) |
|
probably null |
Het |
| H4c14 |
T |
C |
3: 96,170,458 (GRCm39) |
T55A |
possibly damaging |
Het |
| Hcst |
T |
G |
7: 30,118,036 (GRCm39) |
|
probably benign |
Het |
| Hectd4 |
A |
G |
5: 121,466,445 (GRCm39) |
E2420G |
possibly damaging |
Het |
| Ifi206 |
A |
T |
1: 173,308,344 (GRCm39) |
S551T |
probably benign |
Het |
| Itgb3bp |
A |
G |
4: 99,657,724 (GRCm39) |
|
probably benign |
Het |
| Krtap6-2 |
A |
G |
16: 89,216,644 (GRCm39) |
Y108H |
unknown |
Het |
| Krtap6-5 |
T |
G |
16: 88,844,740 (GRCm39) |
|
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,415,699 (GRCm39) |
T2882A |
possibly damaging |
Het |
| Nup214 |
C |
T |
2: 31,900,233 (GRCm39) |
T854M |
probably damaging |
Het |
| Olfml2b |
A |
G |
1: 170,477,401 (GRCm39) |
K179E |
probably benign |
Het |
| Or10d1b |
A |
G |
9: 39,613,871 (GRCm39) |
S65P |
probably damaging |
Het |
| Or4k37 |
A |
T |
2: 111,159,229 (GRCm39) |
H155L |
probably damaging |
Het |
| Per2 |
A |
T |
1: 91,351,950 (GRCm39) |
I852K |
possibly damaging |
Het |
| Pkhd1 |
A |
T |
1: 20,187,247 (GRCm39) |
I3687N |
probably damaging |
Het |
| Slc7a2 |
A |
T |
8: 41,369,410 (GRCm39) |
S622C |
probably damaging |
Het |
| Smarcc2 |
G |
A |
10: 128,318,781 (GRCm39) |
V719I |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 75,972,209 (GRCm39) |
I1033T |
possibly damaging |
Het |
| Tmod1 |
T |
C |
4: 46,096,999 (GRCm39) |
I264T |
probably damaging |
Het |
| Tmtc3 |
G |
A |
10: 100,283,581 (GRCm39) |
A658V |
possibly damaging |
Het |
| Top6bl |
T |
C |
19: 4,748,206 (GRCm39) |
E164G |
probably benign |
Het |
| Tpm3 |
A |
G |
3: 89,981,079 (GRCm39) |
E56G |
possibly damaging |
Het |
| Tra2b |
T |
C |
16: 22,065,993 (GRCm39) |
|
probably benign |
Het |
| Trmu |
T |
A |
15: 85,779,138 (GRCm39) |
Y262N |
possibly damaging |
Het |
| Vps13d |
A |
G |
4: 144,818,517 (GRCm39) |
W2R |
probably 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 |
|
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation