Incidental Mutation 'IGL01870:Upp1'
| ID |
178697 |
| 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 # |
IGL01870
|
| Quality Score |
|
|
Status
|
|
| 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 |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtr1a |
A |
G |
13: 30,565,310 (GRCm39) |
D125G |
probably damaging |
Het |
| Arhgap31 |
T |
C |
16: 38,438,604 (GRCm39) |
K300E |
probably damaging |
Het |
| Cma2 |
C |
A |
14: 56,211,194 (GRCm39) |
S162Y |
probably benign |
Het |
| Cntn4 |
A |
G |
6: 106,466,676 (GRCm39) |
T193A |
possibly damaging |
Het |
| Col22a1 |
T |
A |
15: 71,824,377 (GRCm39) |
M556L |
probably benign |
Het |
| Dld |
A |
G |
12: 31,385,466 (GRCm39) |
S292P |
possibly damaging |
Het |
| Dnah6 |
A |
T |
6: 73,009,552 (GRCm39) |
D3746E |
probably benign |
Het |
| Eea1 |
A |
G |
10: 95,809,848 (GRCm39) |
T9A |
probably damaging |
Het |
| Eeig1 |
T |
C |
2: 32,456,294 (GRCm39) |
S319P |
probably benign |
Het |
| Gbf1 |
A |
G |
19: 46,274,108 (GRCm39) |
K1714R |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| H2-M1 |
A |
T |
17: 36,980,955 (GRCm39) |
M327K |
probably benign |
Het |
| Ifnz |
T |
A |
4: 88,701,548 (GRCm39) |
S176T |
possibly damaging |
Het |
| Irak4 |
T |
C |
15: 94,445,751 (GRCm39) |
Y10H |
probably benign |
Het |
| Irx5 |
T |
C |
8: 93,086,405 (GRCm39) |
F163L |
probably damaging |
Het |
| Jak3 |
C |
T |
8: 72,133,434 (GRCm39) |
P376S |
probably damaging |
Het |
| Lrrc25 |
T |
C |
8: 71,070,437 (GRCm39) |
S73P |
possibly damaging |
Het |
| Macf1 |
C |
T |
4: 123,367,906 (GRCm39) |
G2285D |
probably damaging |
Het |
| Muc4 |
A |
T |
16: 32,574,624 (GRCm39) |
T1025S |
probably benign |
Het |
| Mylk2 |
A |
G |
2: 152,757,134 (GRCm39) |
N303S |
probably benign |
Het |
| Or5v1b |
G |
A |
17: 37,841,555 (GRCm39) |
R229H |
probably benign |
Het |
| Pcnx1 |
T |
C |
12: 82,022,667 (GRCm39) |
V1512A |
probably benign |
Het |
| Phlda3 |
A |
G |
1: 135,694,376 (GRCm39) |
S64G |
probably benign |
Het |
| Pptc7 |
C |
A |
5: 122,451,665 (GRCm39) |
S40R |
probably damaging |
Het |
| Pramel19 |
T |
A |
4: 101,797,887 (GRCm39) |
L95H |
probably benign |
Het |
| Ptpn4 |
A |
C |
1: 119,603,277 (GRCm39) |
|
probably null |
Het |
| Slc10a1 |
T |
C |
12: 81,007,302 (GRCm39) |
M160V |
probably benign |
Het |
| Stac |
T |
C |
9: 111,401,400 (GRCm39) |
I349V |
probably benign |
Het |
| Synm |
A |
G |
7: 67,385,866 (GRCm39) |
S157P |
possibly damaging |
Het |
| Tbc1d9b |
T |
C |
11: 50,052,915 (GRCm39) |
L924P |
probably damaging |
Het |
| Tcaf2 |
C |
T |
6: 42,601,411 (GRCm39) |
V883I |
possibly damaging |
Het |
| Whamm |
C |
T |
7: 81,245,722 (GRCm39) |
T726I |
probably damaging |
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 |
|
|
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 |
2014-05-07 |
Incidental Mutation