Incidental Mutation 'IGL02827:Uox'
ID |
361270 |
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 # |
IGL02827
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
146302904-146337238 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to C
at 146302951 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142872
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029836]
[ENSMUST00000029837]
[ENSMUST00000121133]
[ENSMUST00000147409]
[ENSMUST00000199489]
[ENSMUST00000200633]
|
AlphaFold |
P25688 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029836
|
SMART Domains |
Protein: ENSMUSP00000029836 Gene: ENSMUSG00000028185
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
Pfam:DNase_II
|
27 |
353 |
1.5e-112 |
PFAM |
|
Predicted Effect |
probably benign
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 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 |
probably benign
Transcript: ENSMUST00000147409
|
SMART Domains |
Protein: ENSMUSP00000143299 Gene: ENSMUSG00000028186
Domain | Start | End | E-Value | Type |
Pfam:Uricase
|
1 |
73 |
1.1e-17 |
PFAM |
|
Predicted Effect |
probably benign
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 |
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
T |
C |
10: 79,845,699 (GRCm39) |
S1554P |
probably damaging |
Het |
Actn2 |
A |
T |
13: 12,290,085 (GRCm39) |
L152Q |
probably damaging |
Het |
Afg3l2 |
T |
C |
18: 67,559,015 (GRCm39) |
I369V |
probably damaging |
Het |
Aqp6 |
G |
A |
15: 99,500,892 (GRCm39) |
G199S |
probably damaging |
Het |
Asgr2 |
A |
G |
11: 69,987,723 (GRCm39) |
I74V |
probably benign |
Het |
Cebpz |
T |
C |
17: 79,236,760 (GRCm39) |
R702G |
probably damaging |
Het |
Cers1 |
C |
T |
8: 70,774,177 (GRCm39) |
P145S |
probably damaging |
Het |
Ddx21 |
T |
C |
10: 62,434,153 (GRCm39) |
K202R |
probably benign |
Het |
Gphn |
A |
T |
12: 78,655,994 (GRCm39) |
D407V |
probably damaging |
Het |
Hnf1b |
A |
G |
11: 83,746,752 (GRCm39) |
K123E |
probably damaging |
Het |
Ifitm10 |
T |
C |
7: 141,882,317 (GRCm39) |
D151G |
unknown |
Het |
Ifna14 |
T |
A |
4: 88,489,601 (GRCm39) |
K145N |
probably benign |
Het |
Lamc2 |
C |
T |
1: 153,015,527 (GRCm39) |
C602Y |
probably damaging |
Het |
Mrps25 |
T |
C |
6: 92,152,163 (GRCm39) |
E119G |
probably benign |
Het |
Or10ak9 |
A |
T |
4: 118,726,157 (GRCm39) |
M60L |
probably damaging |
Het |
Or1f12 |
A |
G |
13: 21,721,528 (GRCm39) |
S216P |
probably benign |
Het |
Pgm5 |
C |
A |
19: 24,686,659 (GRCm39) |
R516L |
probably benign |
Het |
Pramel31 |
C |
T |
4: 144,090,331 (GRCm39) |
A457V |
probably damaging |
Het |
Rmnd5b |
A |
G |
11: 51,518,849 (GRCm39) |
L48P |
possibly damaging |
Het |
Samd4b |
G |
A |
7: 28,113,546 (GRCm39) |
R140C |
probably damaging |
Het |
Sema3d |
T |
C |
5: 12,635,085 (GRCm39) |
I717T |
probably benign |
Het |
Sh3tc2 |
G |
A |
18: 62,146,230 (GRCm39) |
S1203N |
probably benign |
Het |
Smpdl3a |
A |
G |
10: 57,678,592 (GRCm39) |
T132A |
probably damaging |
Het |
Stard13 |
T |
C |
5: 150,986,591 (GRCm39) |
I188M |
probably benign |
Het |
Stk17b |
T |
C |
1: 53,815,701 (GRCm39) |
T33A |
probably benign |
Het |
Stxbp3 |
A |
T |
3: 108,717,211 (GRCm39) |
I264N |
probably damaging |
Het |
Tmem60 |
T |
A |
5: 21,091,622 (GRCm39) |
F129Y |
probably damaging |
Het |
Trpm1 |
A |
G |
7: 63,868,908 (GRCm39) |
D404G |
probably null |
Het |
Unc79 |
A |
C |
12: 103,041,105 (GRCm39) |
S713R |
possibly damaging |
Het |
Vmn2r68 |
T |
C |
7: 84,886,800 (GRCm39) |
D38G |
probably damaging |
Het |
Vps13a |
T |
C |
19: 16,618,998 (GRCm39) |
D2856G |
possibly damaging |
Het |
Vsig10l |
T |
C |
7: 43,114,293 (GRCm39) |
L205P |
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 |
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 |
2015-12-18 |