Incidental Mutation 'R2214:Upp1'
ID |
241029 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Upp1
|
Ensembl Gene |
ENSMUSG00000020407 |
Gene Name |
uridine phosphorylase 1 |
Synonyms |
UPase, Up, UdRPase |
MMRRC Submission |
040216-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.249)
|
Stock # |
R2214 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
9068103-9086170 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 9086033 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 290
(V290E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127473
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020677]
[ENSMUST00000101525]
[ENSMUST00000130522]
[ENSMUST00000164791]
[ENSMUST00000172452]
[ENSMUST00000170444]
|
AlphaFold |
P52624 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020677
AA Change: V290E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000020677 Gene: ENSMUSG00000020407 AA Change: V290E
Domain | Start | End | E-Value | Type |
Pfam:PNP_UDP_1
|
55 |
305 |
1.9e-32 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000101525
AA Change: V290E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000099063 Gene: ENSMUSG00000020407 AA Change: V290E
Domain | Start | End | E-Value | Type |
Pfam:PNP_UDP_1
|
55 |
305 |
1.9e-31 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130522
|
SMART Domains |
Protein: ENSMUSP00000123285 Gene: ENSMUSG00000020407
Domain | Start | End | E-Value | Type |
PDB:3NBQ|D
|
1 |
137 |
9e-76 |
PDB |
SCOP:d1k9sa_
|
43 |
127 |
1e-13 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146696
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164791
AA Change: V290E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000127473 Gene: ENSMUSG00000020407 AA Change: V290E
Domain | Start | End | E-Value | Type |
Pfam:PNP_UDP_1
|
55 |
305 |
1.9e-32 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166455
|
SMART Domains |
Protein: ENSMUSP00000129276 Gene: ENSMUSG00000020407
Domain | Start | End | E-Value | Type |
Pfam:PNP_UDP_1
|
45 |
143 |
6.9e-7 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172452
|
SMART Domains |
Protein: ENSMUSP00000129787 Gene: ENSMUSG00000020407
Domain | Start | End | E-Value | Type |
PDB:3NBQ|D
|
1 |
114 |
4e-60 |
PDB |
SCOP:d1lx7a_
|
35 |
114 |
7e-10 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170444
|
SMART Domains |
Protein: ENSMUSP00000125934 Gene: ENSMUSG00000020407
Domain | Start | End | E-Value | Type |
Pfam:PNP_UDP_1
|
55 |
149 |
3.9e-10 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a uridine phosphorylase, an enzyme that catalyzes the reversible phosphorylation of uridine (or 2'- deoxyuridine) to uracil and ribose-1-phosphate (or deoxyribose-1-phosphate). The encoded enzyme functions in the degradation and salvage of pyrimidine ribonucleosides. [provided by RefSeq, Oct 2016] PHENOTYPE: Mice homozygous for a targeted disruption have increased uridine concentration in tissues, urine and blood, along with disorders of various nucleotide metabolisms and decreased sensitivity to pentobarbital and 5-fluorouracil. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap2 |
T |
C |
16: 30,926,946 (GRCm39) |
Y516C |
probably benign |
Het |
Adam22 |
C |
T |
5: 8,186,805 (GRCm39) |
|
probably null |
Het |
Akap8l |
T |
C |
17: 32,557,799 (GRCm39) |
|
probably null |
Het |
Casr |
T |
C |
16: 36,336,120 (GRCm39) |
Y63C |
probably damaging |
Het |
Ccdc178 |
T |
C |
18: 22,048,047 (GRCm39) |
D781G |
possibly damaging |
Het |
Col9a1 |
C |
A |
1: 24,247,283 (GRCm39) |
P168Q |
probably damaging |
Het |
Dnm2 |
T |
C |
9: 21,397,019 (GRCm39) |
|
probably null |
Het |
Dst |
C |
T |
1: 34,310,482 (GRCm39) |
T6325M |
probably damaging |
Het |
Ercc4 |
C |
A |
16: 12,927,888 (GRCm39) |
D19E |
probably damaging |
Het |
Gm1110 |
C |
A |
9: 26,813,786 (GRCm39) |
V198L |
probably benign |
Het |
Gm8674 |
T |
A |
13: 50,055,396 (GRCm39) |
|
noncoding transcript |
Het |
Grm7 |
A |
T |
6: 111,335,958 (GRCm39) |
I790F |
probably damaging |
Het |
Habp2 |
A |
G |
19: 56,306,249 (GRCm39) |
D445G |
possibly damaging |
Het |
Kat7 |
G |
A |
11: 95,166,631 (GRCm39) |
T517I |
probably damaging |
Het |
Kbtbd11 |
T |
A |
8: 15,079,178 (GRCm39) |
D592E |
possibly damaging |
Het |
Lgals8 |
T |
A |
13: 12,469,713 (GRCm39) |
Q82L |
probably benign |
Het |
Lmtk3 |
A |
G |
7: 45,444,277 (GRCm39) |
|
probably benign |
Het |
Map2 |
A |
T |
1: 66,459,345 (GRCm39) |
D1530V |
probably damaging |
Het |
Map2k6 |
G |
A |
11: 110,387,167 (GRCm39) |
V180I |
probably damaging |
Het |
Map3k5 |
T |
A |
10: 19,902,035 (GRCm39) |
|
probably null |
Het |
Mtor |
A |
G |
4: 148,623,327 (GRCm39) |
E2059G |
probably benign |
Het |
Myh10 |
A |
G |
11: 68,673,953 (GRCm39) |
D660G |
probably damaging |
Het |
Myo16 |
T |
A |
8: 10,488,803 (GRCm39) |
V658E |
probably damaging |
Het |
Nckap5 |
A |
T |
1: 125,953,487 (GRCm39) |
S1090T |
possibly damaging |
Het |
Nhlrc3 |
T |
C |
3: 53,363,875 (GRCm39) |
H217R |
probably damaging |
Het |
Ntrk3 |
T |
A |
7: 78,166,520 (GRCm39) |
I118F |
probably damaging |
Het |
Or14a259 |
T |
A |
7: 86,013,414 (GRCm39) |
I44F |
probably benign |
Het |
Or1e29 |
A |
T |
11: 73,667,655 (GRCm39) |
L166* |
probably null |
Het |
Or4p20 |
C |
T |
2: 88,253,461 (GRCm39) |
V303M |
probably benign |
Het |
Paxip1 |
T |
C |
5: 27,947,499 (GRCm39) |
Y1053C |
probably damaging |
Het |
Pfkfb4 |
T |
A |
9: 108,834,677 (GRCm39) |
F117I |
probably benign |
Het |
Pp2d1 |
T |
C |
17: 53,822,424 (GRCm39) |
Y214C |
probably benign |
Het |
Prr7 |
C |
A |
13: 55,620,613 (GRCm39) |
S207* |
probably null |
Het |
Ptprh |
T |
A |
7: 4,555,921 (GRCm39) |
Q715L |
possibly damaging |
Het |
Rasgrp1 |
A |
T |
2: 117,115,646 (GRCm39) |
D647E |
probably damaging |
Het |
Rnf20 |
T |
A |
4: 49,648,344 (GRCm39) |
M384K |
possibly damaging |
Het |
Rps6kb1 |
A |
T |
11: 86,424,896 (GRCm39) |
C37S |
possibly damaging |
Het |
Serpinb9f |
C |
A |
13: 33,518,592 (GRCm39) |
T364K |
probably benign |
Het |
Sorbs1 |
C |
T |
19: 40,285,075 (GRCm39) |
A641T |
probably damaging |
Het |
Srrm2 |
T |
C |
17: 24,035,719 (GRCm39) |
|
probably benign |
Het |
Stag3 |
C |
T |
5: 138,299,528 (GRCm39) |
S849L |
possibly damaging |
Het |
Syt15 |
A |
T |
14: 33,944,989 (GRCm39) |
S179C |
probably damaging |
Het |
Tapbp |
T |
C |
17: 34,139,300 (GRCm39) |
F90L |
possibly damaging |
Het |
Timm23 |
A |
T |
14: 31,920,944 (GRCm39) |
D49E |
probably damaging |
Het |
Tmcc1 |
C |
CAT |
6: 116,019,831 (GRCm39) |
|
probably null |
Het |
Tmem174 |
A |
C |
13: 98,773,757 (GRCm39) |
S24R |
possibly damaging |
Het |
Tmem63a |
A |
G |
1: 180,788,679 (GRCm39) |
S339G |
probably benign |
Het |
Tsc22d2 |
A |
G |
3: 58,323,627 (GRCm39) |
Y173C |
probably damaging |
Het |
Ubap2 |
A |
G |
4: 41,199,714 (GRCm39) |
|
probably null |
Het |
Uqcc4 |
T |
C |
17: 25,403,699 (GRCm39) |
V13A |
probably benign |
Het |
Usp17lb |
A |
T |
7: 104,490,639 (GRCm39) |
M96K |
probably benign |
Het |
Wdr20rt |
A |
G |
12: 65,274,187 (GRCm39) |
E449G |
probably damaging |
Het |
Zkscan8 |
A |
T |
13: 21,705,082 (GRCm39) |
S286T |
probably benign |
Het |
|
Other mutations in Upp1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01323:Upp1
|
APN |
11 |
9,086,100 (GRCm39) |
makesense |
probably null |
|
IGL01870:Upp1
|
APN |
11 |
9,075,700 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02125:Upp1
|
APN |
11 |
9,075,650 (GRCm39) |
utr 5 prime |
probably benign |
|
R0373:Upp1
|
UTSW |
11 |
9,079,590 (GRCm39) |
missense |
probably benign |
0.01 |
R1501:Upp1
|
UTSW |
11 |
9,084,708 (GRCm39) |
splice site |
probably null |
|
R1617:Upp1
|
UTSW |
11 |
9,084,865 (GRCm39) |
missense |
probably damaging |
0.99 |
R1980:Upp1
|
UTSW |
11 |
9,084,872 (GRCm39) |
missense |
possibly damaging |
0.67 |
R2018:Upp1
|
UTSW |
11 |
9,083,240 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2019:Upp1
|
UTSW |
11 |
9,083,240 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3425:Upp1
|
UTSW |
11 |
9,075,700 (GRCm39) |
critical splice donor site |
probably null |
|
R4063:Upp1
|
UTSW |
11 |
9,081,709 (GRCm39) |
missense |
probably damaging |
1.00 |
R4247:Upp1
|
UTSW |
11 |
9,084,815 (GRCm39) |
missense |
probably benign |
|
R4776:Upp1
|
UTSW |
11 |
9,085,976 (GRCm39) |
missense |
probably damaging |
0.98 |
R5160:Upp1
|
UTSW |
11 |
9,085,193 (GRCm39) |
missense |
possibly damaging |
0.68 |
R5500:Upp1
|
UTSW |
11 |
9,081,774 (GRCm39) |
missense |
probably damaging |
1.00 |
R5514:Upp1
|
UTSW |
11 |
9,081,771 (GRCm39) |
missense |
probably damaging |
1.00 |
R5677:Upp1
|
UTSW |
11 |
9,086,025 (GRCm39) |
missense |
probably benign |
|
R6825:Upp1
|
UTSW |
11 |
9,081,707 (GRCm39) |
missense |
probably benign |
|
R7325:Upp1
|
UTSW |
11 |
9,084,743 (GRCm39) |
missense |
probably damaging |
0.98 |
R8749:Upp1
|
UTSW |
11 |
9,079,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R9257:Upp1
|
UTSW |
11 |
9,075,661 (GRCm39) |
missense |
probably benign |
0.00 |
R9633:Upp1
|
UTSW |
11 |
9,084,909 (GRCm39) |
missense |
|
|
R9642:Upp1
|
UTSW |
11 |
9,085,206 (GRCm39) |
missense |
probably benign |
0.00 |
X0022:Upp1
|
UTSW |
11 |
9,075,682 (GRCm39) |
missense |
possibly damaging |
0.53 |
X0022:Upp1
|
UTSW |
11 |
9,075,681 (GRCm39) |
missense |
probably benign |
0.00 |
X0027:Upp1
|
UTSW |
11 |
9,084,857 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- GGTTTCCCGAGGTATTGCAG -3'
(R):5'- GAACAATCTGTGTGTCTAACTCG -3'
Sequencing Primer
(F):5'- ATTGCAGGCTGATCCTCAG -3'
(R):5'- ACTCGGATTTCTAACTGGCAG -3'
|
Posted On |
2014-10-15 |