Incidental Mutation 'IGL01323:Upp1'
| ID |
74139 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Upp1
|
| Ensembl Gene |
ENSMUSG00000020407 |
| Gene Name |
uridine phosphorylase 1 |
| Synonyms |
UPase, Up, UdRPase |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.240)
|
| Stock # |
IGL01323
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
9068103-9086170 bp(+) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
A to G
at 9086100 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Tryptophan
at position 312
(*312W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127473
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020677]
[ENSMUST00000101525]
[ENSMUST00000130522]
[ENSMUST00000164791]
[ENSMUST00000170444]
[ENSMUST00000172452]
|
| AlphaFold |
P52624 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000020677
AA Change: *312W
|
| SMART Domains |
Protein: ENSMUSP00000020677
Gene: ENSMUSG00000020407
AA Change: *312W
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PNP_UDP_1
|
55 |
305 |
1.9e-32 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000101525
AA Change: *312W
|
| SMART Domains |
Protein: ENSMUSP00000099063
Gene: ENSMUSG00000020407
AA Change: *312W
| 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 null
Transcript: ENSMUST00000164791
AA Change: *312W
|
| SMART Domains |
Protein: ENSMUSP00000127473
Gene: ENSMUSG00000020407
AA Change: *312W
| 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: 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 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 |
|
| Coding Region Coverage |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arfgef2 |
A |
G |
2: 166,713,415 (GRCm39) |
D1272G |
probably damaging |
Het |
| Ascl2 |
A |
G |
7: 142,522,125 (GRCm39) |
S108P |
probably benign |
Het |
| B3gat1 |
T |
C |
9: 26,667,206 (GRCm39) |
V146A |
possibly damaging |
Het |
| Barhl1 |
C |
T |
2: 28,805,558 (GRCm39) |
S45N |
probably benign |
Het |
| Birc6 |
C |
T |
17: 74,929,920 (GRCm39) |
A2370V |
probably damaging |
Het |
| C1qtnf7 |
A |
G |
5: 43,766,602 (GRCm39) |
D67G |
possibly damaging |
Het |
| Cand2 |
A |
G |
6: 115,762,086 (GRCm39) |
T171A |
probably benign |
Het |
| Ccdc77 |
T |
C |
6: 120,311,757 (GRCm39) |
Q247R |
probably benign |
Het |
| Cenpp |
A |
T |
13: 49,801,118 (GRCm39) |
V100D |
probably damaging |
Het |
| Cep135 |
A |
G |
5: 76,739,612 (GRCm39) |
T3A |
probably benign |
Het |
| Eef2k |
T |
C |
7: 120,484,038 (GRCm39) |
|
probably benign |
Het |
| Fga |
T |
C |
3: 82,937,518 (GRCm39) |
S132P |
probably damaging |
Het |
| Gpr6 |
T |
A |
10: 40,947,555 (GRCm39) |
N9I |
possibly damaging |
Het |
| Gvin2 |
A |
G |
7: 105,546,009 (GRCm39) |
S2348P |
possibly damaging |
Het |
| Hacd3 |
A |
G |
9: 64,905,587 (GRCm39) |
F184L |
probably damaging |
Het |
| Heatr1 |
T |
C |
13: 12,413,819 (GRCm39) |
I132T |
possibly damaging |
Het |
| Igfbp7 |
A |
G |
5: 77,499,884 (GRCm39) |
|
probably benign |
Het |
| Ighv8-6 |
T |
C |
12: 115,129,477 (GRCm39) |
D93G |
possibly damaging |
Het |
| Izumo3 |
A |
G |
4: 92,034,627 (GRCm39) |
|
probably benign |
Het |
| Jade2 |
T |
C |
11: 51,716,165 (GRCm39) |
T347A |
possibly damaging |
Het |
| Kif18a |
A |
G |
2: 109,128,787 (GRCm39) |
T419A |
probably benign |
Het |
| Krt34 |
A |
G |
11: 99,929,606 (GRCm39) |
S267P |
possibly damaging |
Het |
| Krt4 |
T |
G |
15: 101,828,716 (GRCm39) |
K383Q |
probably damaging |
Het |
| Lgals7 |
G |
T |
7: 28,564,989 (GRCm39) |
E42D |
probably benign |
Het |
| Morc2b |
A |
G |
17: 33,356,293 (GRCm39) |
V493A |
possibly damaging |
Het |
| Mtif2 |
T |
A |
11: 29,491,447 (GRCm39) |
S557R |
probably damaging |
Het |
| Nup43 |
T |
A |
10: 7,545,320 (GRCm39) |
F83I |
probably benign |
Het |
| Oosp2 |
A |
G |
19: 11,624,825 (GRCm39) |
L155S |
probably damaging |
Het |
| Or1o1 |
G |
T |
17: 37,717,031 (GRCm39) |
M197I |
probably benign |
Het |
| Plxnd1 |
T |
A |
6: 115,943,760 (GRCm39) |
T1180S |
possibly damaging |
Het |
| Prpf39 |
T |
A |
12: 65,089,498 (GRCm39) |
F79I |
possibly damaging |
Het |
| Prph |
G |
A |
15: 98,956,517 (GRCm39) |
S465N |
possibly damaging |
Het |
| Purg |
A |
T |
8: 33,876,631 (GRCm39) |
I90L |
probably damaging |
Het |
| Pxdn |
C |
A |
12: 30,037,136 (GRCm39) |
Q305K |
probably benign |
Het |
| R3hdm1 |
G |
A |
1: 128,144,280 (GRCm39) |
S816N |
probably benign |
Het |
| Src |
G |
A |
2: 157,311,423 (GRCm39) |
G461R |
probably damaging |
Het |
| Tmem201 |
G |
A |
4: 149,804,045 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf22 |
G |
A |
7: 143,197,111 (GRCm39) |
P76L |
probably damaging |
Het |
| Triml1 |
T |
C |
8: 43,591,600 (GRCm39) |
|
probably null |
Het |
| Wdfy3 |
G |
T |
5: 102,042,930 (GRCm39) |
S1940R |
probably damaging |
Het |
| Xpc |
T |
C |
6: 91,469,335 (GRCm39) |
Y804C |
probably damaging |
Het |
| Xrn2 |
C |
T |
2: 146,876,767 (GRCm39) |
|
probably benign |
Het |
| Zfp106 |
A |
T |
2: 120,354,945 (GRCm39) |
D1275E |
possibly damaging |
Het |
|
| Other mutations in Upp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
|
|
| Posted On |
2013-10-07 |
Incidental Mutation