Incidental Mutation 'R6803:Uox'
| ID |
533424 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Uox
|
| Ensembl Gene |
ENSMUSG00000028186 |
| Gene Name |
urate oxidase |
| Synonyms |
|
| MMRRC Submission |
044916-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.449)
|
| Stock # |
R6803 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
146302904-146337238 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 146318264 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 55
(V55G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113649
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029837]
[ENSMUST00000121133]
[ENSMUST00000147409]
[ENSMUST00000199489]
[ENSMUST00000200633]
|
| AlphaFold |
P25688 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029837
AA Change: V128G
PolyPhen 2
Score 0.596 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000029837
Gene: ENSMUSG00000028186
AA Change: V128G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Uricase
|
19 |
144 |
8.7e-25 |
PFAM |
|
Pfam:Uricase
|
153 |
292 |
5.6e-38 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000121133
AA Change: V55G
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113649
Gene: ENSMUSG00000028186
AA Change: V55G
| 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 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
AA Change: V104G
PolyPhen 2
Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000143418
Gene: ENSMUSG00000028186
AA Change: V104G
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 98.0%
- 20x: 94.7%
|
| Validation Efficiency |
100% (52/52) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg9 |
A |
C |
9: 50,700,860 (GRCm39) |
D210A |
probably benign |
Het |
| As3mt |
T |
G |
19: 46,698,020 (GRCm39) |
M120R |
probably benign |
Het |
| Baz1a |
T |
A |
12: 54,988,340 (GRCm39) |
S270C |
probably null |
Het |
| Car5a |
A |
C |
8: 122,650,504 (GRCm39) |
|
probably null |
Het |
| Ccdc187 |
T |
A |
2: 26,179,791 (GRCm39) |
T223S |
probably benign |
Het |
| Cel |
T |
C |
2: 28,448,060 (GRCm39) |
N322S |
probably benign |
Het |
| Chd6 |
T |
C |
2: 160,802,279 (GRCm39) |
E2185G |
possibly damaging |
Het |
| Clcnkb |
T |
C |
4: 141,132,639 (GRCm39) |
T597A |
probably benign |
Het |
| Cntnap1 |
A |
G |
11: 101,068,060 (GRCm39) |
Y24C |
possibly damaging |
Het |
| Cog3 |
A |
G |
14: 75,941,479 (GRCm39) |
S817P |
probably benign |
Het |
| Col8a2 |
A |
G |
4: 126,205,793 (GRCm39) |
Y601C |
probably damaging |
Het |
| Cpm |
G |
T |
10: 117,512,002 (GRCm39) |
|
probably null |
Het |
| Cpt2 |
T |
C |
4: 107,769,861 (GRCm39) |
N79S |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 118,016,198 (GRCm39) |
T314A |
probably benign |
Het |
| Dnm1 |
C |
A |
2: 32,202,766 (GRCm39) |
V46F |
probably damaging |
Het |
| Fat3 |
C |
T |
9: 15,908,083 (GRCm39) |
V2640M |
probably damaging |
Het |
| Fbxl2 |
A |
T |
9: 113,813,617 (GRCm39) |
C296S |
probably damaging |
Het |
| Fcgbp |
A |
G |
7: 27,802,637 (GRCm39) |
T1522A |
probably benign |
Het |
| Foxl2 |
A |
C |
9: 98,837,985 (GRCm39) |
K91T |
probably damaging |
Het |
| Hdac11 |
G |
T |
6: 91,143,247 (GRCm39) |
R131L |
probably damaging |
Het |
| Ipo11 |
T |
C |
13: 106,993,766 (GRCm39) |
I723V |
probably benign |
Het |
| Klhl33 |
A |
G |
14: 51,134,192 (GRCm39) |
L150P |
probably damaging |
Het |
| Klk1b11 |
A |
G |
7: 43,647,261 (GRCm39) |
H65R |
probably damaging |
Het |
| Larp7 |
T |
C |
3: 127,330,685 (GRCm39) |
|
probably null |
Het |
| Ldlrad3 |
T |
C |
2: 101,943,892 (GRCm39) |
D60G |
possibly damaging |
Het |
| Mlip |
A |
T |
9: 77,097,663 (GRCm39) |
H177Q |
probably damaging |
Het |
| Mrnip |
A |
G |
11: 50,090,730 (GRCm39) |
D298G |
probably benign |
Het |
| Npas2 |
A |
C |
1: 39,375,130 (GRCm39) |
S483R |
probably benign |
Het |
| Nrg3 |
C |
A |
14: 38,733,957 (GRCm39) |
E310* |
probably null |
Het |
| Omg |
T |
A |
11: 79,393,094 (GRCm39) |
T255S |
possibly damaging |
Het |
| Or2y12 |
T |
A |
11: 49,426,432 (GRCm39) |
L140H |
probably damaging |
Het |
| Or56b1b |
G |
T |
7: 108,164,620 (GRCm39) |
D127E |
probably damaging |
Het |
| Plekhg6 |
T |
C |
6: 125,340,626 (GRCm39) |
D578G |
probably damaging |
Het |
| Pygo1 |
A |
G |
9: 72,850,267 (GRCm39) |
K39E |
probably damaging |
Het |
| Rell2 |
A |
G |
18: 38,089,994 (GRCm39) |
D66G |
probably damaging |
Het |
| Samd9l |
A |
T |
6: 3,375,446 (GRCm39) |
I605K |
probably damaging |
Het |
| Sema6d |
T |
C |
2: 124,505,970 (GRCm39) |
S593P |
probably damaging |
Het |
| Sf3b3 |
A |
G |
8: 111,552,210 (GRCm39) |
V545A |
probably benign |
Het |
| Speer4f1 |
T |
A |
5: 17,684,388 (GRCm39) |
|
probably null |
Het |
| Spem1 |
T |
C |
11: 69,711,974 (GRCm39) |
E230G |
possibly damaging |
Het |
| Sphkap |
A |
G |
1: 83,258,231 (GRCm39) |
F171L |
probably damaging |
Het |
| Tbc1d13 |
T |
C |
2: 30,025,522 (GRCm39) |
|
probably benign |
Het |
| Tmem222 |
A |
T |
4: 132,994,154 (GRCm39) |
N206K |
probably benign |
Het |
| Trnau1ap |
C |
T |
4: 132,049,081 (GRCm39) |
V41M |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,769,387 (GRCm39) |
|
probably null |
Het |
| Ubr3 |
T |
C |
2: 69,766,368 (GRCm39) |
|
probably null |
Het |
| Vmn2r24 |
A |
T |
6: 123,755,960 (GRCm39) |
I11F |
possibly damaging |
Het |
| Wasf2 |
T |
C |
4: 132,922,220 (GRCm39) |
|
probably null |
Het |
| Wdr97 |
A |
G |
15: 76,240,776 (GRCm39) |
Y488C |
probably damaging |
Het |
| Zbtb4 |
T |
C |
11: 69,669,454 (GRCm39) |
S726P |
possibly damaging |
Het |
| Zfp534 |
C |
T |
4: 147,758,926 (GRCm39) |
C581Y |
probably damaging |
Het |
| Zfp551 |
A |
T |
7: 12,151,108 (GRCm39) |
C100* |
probably null |
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 |
|
|
R6556:Uox
|
UTSW |
3 |
146,330,403 (GRCm39) |
critical splice donor site |
probably null |
|
|
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'- CAGAAACATCGAGACCTTTGC -3'
(R):5'- AGAATTGCTTAGGGCCAAAAC -3'
Sequencing Primer
(F):5'- CGAGACCTTTGCAATGAACATCTG -3'
(R):5'- TTGCTTAGGGCCAAAACCAACAAG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation