Incidental Mutation 'R3425:Upp1'
| ID |
271728 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Upp1
|
| Ensembl Gene |
ENSMUSG00000020407 |
| Gene Name |
uridine phosphorylase 1 |
| Synonyms |
UPase, Up, UdRPase |
| MMRRC Submission |
040643-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.240)
|
| Stock # |
R3425 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
9068103-9086170 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 9075700 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129787
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020677]
[ENSMUST00000101525]
[ENSMUST00000130522]
[ENSMUST00000164791]
[ENSMUST00000170444]
[ENSMUST00000172452]
|
| AlphaFold |
P52624 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000020677
|
| SMART Domains |
Protein: ENSMUSP00000020677
Gene: ENSMUSG00000020407
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PNP_UDP_1
|
55 |
305 |
1.9e-32 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000101525
|
| SMART Domains |
Protein: ENSMUSP00000099063
Gene: ENSMUSG00000020407
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PNP_UDP_1
|
55 |
305 |
1.9e-31 |
PFAM |
|
| Predicted Effect |
probably null
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 |
probably null
Transcript: ENSMUST00000164791
|
| SMART Domains |
Protein: ENSMUSP00000127473
Gene: ENSMUSG00000020407
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PNP_UDP_1
|
55 |
305 |
1.9e-32 |
PFAM |
|
| Predicted Effect |
probably null
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 null
Transcript: ENSMUST00000170444
|
| SMART Domains |
Protein: ENSMUSP00000125934
Gene: ENSMUSG00000020407
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PNP_UDP_1
|
55 |
149 |
3.9e-10 |
PFAM |
|
| Predicted Effect |
probably null
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 |
|
| Meta Mutation Damage Score |
0.9460 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
97% (30/31) |
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap5m1 |
A |
G |
14: 49,311,140 (GRCm39) |
E70G |
probably damaging |
Het |
| Atp8b3 |
T |
C |
10: 80,372,181 (GRCm39) |
E16G |
probably benign |
Het |
| Csmd3 |
A |
T |
15: 47,710,648 (GRCm39) |
D1646E |
probably damaging |
Het |
| Cyp2c70 |
G |
T |
19: 40,172,468 (GRCm39) |
A58E |
probably damaging |
Het |
| Ddx11 |
T |
C |
17: 66,446,434 (GRCm39) |
I415T |
possibly damaging |
Het |
| Gm8674 |
T |
A |
13: 50,055,792 (GRCm39) |
|
noncoding transcript |
Het |
| H2-T22 |
A |
C |
17: 36,352,472 (GRCm39) |
L151R |
probably damaging |
Het |
| Hmgcs1 |
C |
A |
13: 120,166,668 (GRCm39) |
P420Q |
probably damaging |
Het |
| Il16 |
T |
C |
7: 83,293,248 (GRCm39) |
E575G |
probably damaging |
Het |
| Ism2 |
T |
C |
12: 87,333,871 (GRCm39) |
N58S |
probably benign |
Het |
| Kat7 |
T |
C |
11: 95,193,991 (GRCm39) |
E103G |
probably damaging |
Het |
| Klf15 |
T |
C |
6: 90,443,802 (GRCm39) |
S126P |
probably benign |
Het |
| Mapt |
C |
T |
11: 104,189,548 (GRCm39) |
R189* |
probably null |
Het |
| Meltf |
C |
T |
16: 31,715,343 (GRCm39) |
R679* |
probably null |
Het |
| Myo1d |
T |
C |
11: 80,492,464 (GRCm39) |
T764A |
probably benign |
Het |
| Mypn |
T |
C |
10: 62,954,196 (GRCm39) |
|
probably benign |
Het |
| Or5b101 |
G |
C |
19: 13,005,411 (GRCm39) |
A94G |
probably benign |
Het |
| Or8h8 |
C |
T |
2: 86,752,950 (GRCm39) |
E309K |
probably benign |
Het |
| Ptpn4 |
T |
C |
1: 119,635,560 (GRCm39) |
D381G |
probably benign |
Het |
| Ros1 |
C |
A |
10: 52,004,512 (GRCm39) |
|
probably null |
Het |
| Scel |
T |
G |
14: 103,845,542 (GRCm39) |
V559G |
possibly damaging |
Het |
| Sez6l |
T |
C |
5: 112,574,615 (GRCm39) |
D875G |
probably damaging |
Het |
| Slc18b1 |
T |
G |
10: 23,698,874 (GRCm39) |
M348R |
probably damaging |
Het |
| Slc36a3 |
G |
T |
11: 55,033,607 (GRCm39) |
T137K |
probably benign |
Het |
| Slco4c1 |
A |
T |
1: 96,768,976 (GRCm39) |
S295R |
probably benign |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Tmprss15 |
A |
T |
16: 78,800,321 (GRCm39) |
N587K |
possibly damaging |
Het |
| Zp1 |
G |
A |
19: 10,895,956 (GRCm39) |
R227W |
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 |
|
R2214:Upp1
|
UTSW |
11 |
9,086,033 (GRCm39) |
missense |
probably benign |
|
|
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'- TAAGTGTGGCGTCTACCCTTG -3'
(R):5'- AAGGACCAAAGCTCCTGGAC -3'
Sequencing Primer
(F):5'- CGAGCGAGCATGTGTACATTTCC -3'
(R):5'- CAAAGCTCCTGGACCTGAATTTG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation