Incidental Mutation 'R5606:Uox'
| ID |
439285 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Uox
|
| Ensembl Gene |
ENSMUSG00000028186 |
| Gene Name |
urate oxidase |
| Synonyms |
|
| MMRRC Submission |
043157-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.449)
|
| Stock # |
R5606 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
146302904-146337238 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 146316057 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 21
(Y21*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029837
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029837]
[ENSMUST00000121133]
[ENSMUST00000147409]
[ENSMUST00000199489]
[ENSMUST00000200633]
|
| AlphaFold |
P25688 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029837
AA Change: Y21*
|
| SMART Domains |
Protein: ENSMUSP00000029837
Gene: ENSMUSG00000028186
AA Change: Y21*
| 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 |
noncoding transcript
Transcript: ENSMUST00000197320
|
| 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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.1%
|
| 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 |
|---|
| Aldh1a7 |
A |
G |
19: 20,699,731 (GRCm39) |
S75P |
probably damaging |
Het |
| Ankib1 |
A |
T |
5: 3,751,907 (GRCm39) |
I711N |
probably damaging |
Het |
| Ankmy2 |
A |
G |
12: 36,215,920 (GRCm39) |
N40S |
probably benign |
Het |
| Armc8 |
T |
C |
9: 99,418,315 (GRCm39) |
K80E |
probably benign |
Het |
| Blm |
C |
A |
7: 80,110,580 (GRCm39) |
|
probably null |
Het |
| Cand1 |
C |
A |
10: 119,047,359 (GRCm39) |
Q710H |
possibly damaging |
Het |
| Ckap2l |
A |
T |
2: 129,127,959 (GRCm39) |
I73N |
probably damaging |
Het |
| Ddx27 |
T |
A |
2: 166,861,886 (GRCm39) |
D129E |
probably benign |
Het |
| Dnm3 |
T |
C |
1: 162,113,587 (GRCm39) |
E491G |
probably damaging |
Het |
| Fgd6 |
C |
A |
10: 93,974,190 (GRCm39) |
Y1310* |
probably null |
Het |
| Hnrnph3 |
C |
T |
10: 62,855,222 (GRCm39) |
R21H |
possibly damaging |
Het |
| Hs3st4 |
C |
A |
7: 123,996,365 (GRCm39) |
Q344K |
probably damaging |
Het |
| Hyal3 |
T |
C |
9: 107,462,265 (GRCm39) |
S100P |
probably benign |
Het |
| Map3k19 |
G |
A |
1: 127,750,694 (GRCm39) |
R886C |
probably benign |
Het |
| Mmrn2 |
G |
A |
14: 34,119,581 (GRCm39) |
D187N |
probably damaging |
Het |
| Myo5c |
G |
A |
9: 75,182,790 (GRCm39) |
A810T |
probably damaging |
Het |
| Noxa1 |
T |
A |
2: 24,976,292 (GRCm39) |
E332V |
possibly damaging |
Het |
| Or10al7 |
T |
C |
17: 38,365,693 (GRCm39) |
T264A |
probably damaging |
Het |
| Or12j5 |
T |
A |
7: 140,083,713 (GRCm39) |
I220F |
probably damaging |
Het |
| Or51r1 |
T |
C |
7: 102,228,481 (GRCm39) |
S260P |
probably damaging |
Het |
| Or7c70 |
A |
G |
10: 78,683,395 (GRCm39) |
M118T |
probably benign |
Het |
| Parg |
T |
A |
14: 31,984,693 (GRCm39) |
V241E |
probably damaging |
Het |
| Pitrm1 |
T |
A |
13: 6,610,101 (GRCm39) |
V391D |
probably damaging |
Het |
| Plch1 |
A |
T |
3: 63,648,108 (GRCm39) |
V421E |
probably benign |
Het |
| Slc27a2 |
C |
T |
2: 126,406,610 (GRCm39) |
A98V |
probably damaging |
Het |
| Spta1 |
A |
T |
1: 174,047,468 (GRCm39) |
H1704L |
probably damaging |
Het |
| Tbpl2 |
G |
A |
2: 23,977,245 (GRCm39) |
P258S |
possibly damaging |
Het |
| Thoc2l |
T |
C |
5: 104,669,744 (GRCm39) |
I1422T |
probably benign |
Het |
| Tlr11 |
T |
C |
14: 50,599,717 (GRCm39) |
C568R |
probably benign |
Het |
| Tmem260 |
T |
A |
14: 48,722,437 (GRCm39) |
M324K |
probably damaging |
Het |
| Tmprss11g |
T |
A |
5: 86,635,269 (GRCm39) |
T402S |
probably damaging |
Het |
| Trim21 |
C |
G |
7: 102,208,813 (GRCm39) |
R302P |
probably damaging |
Het |
| Vmn1r74 |
A |
G |
7: 11,580,822 (GRCm39) |
M41V |
probably benign |
Het |
| Vmn2r59 |
A |
C |
7: 41,695,318 (GRCm39) |
S365A |
probably benign |
Het |
| Zfp345 |
A |
T |
2: 150,316,788 (GRCm39) |
Y6* |
probably null |
Het |
| Zpld2 |
A |
C |
4: 133,927,523 (GRCm39) |
V410G |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTCAGGCGTGATACTGC -3'
(R):5'- TTTGCATCAGGAAGTAGCAAGC -3'
Sequencing Primer
(F):5'- CAGGCGTGATACTGCTTTCCTAAG -3'
(R):5'- AGAGTGATTATACCCCTCTGAGC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation