Incidental Mutation 'R9633:Upp1'
| ID |
725672 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Upp1
|
| Ensembl Gene |
ENSMUSG00000020407 |
| Gene Name |
uridine phosphorylase 1 |
| Synonyms |
UPase, Up, UdRPase |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.240)
|
| Stock # |
R9633 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
9068103-9086170 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 9084909 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 209
(M209I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020677
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020677]
[ENSMUST00000101525]
[ENSMUST00000130522]
[ENSMUST00000164791]
[ENSMUST00000170444]
[ENSMUST00000172452]
|
| AlphaFold |
P52624 |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000020677
Gene: ENSMUSG00000020407
AA Change: M209I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PNP_UDP_1
|
55 |
305 |
1.9e-32 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101525
AA Change: M209I
PolyPhen 2
Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000099063
Gene: ENSMUSG00000020407
AA Change: M209I
| 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 |
probably benign
Transcript: ENSMUST00000164791
AA Change: M209I
PolyPhen 2
Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000127473
Gene: ENSMUSG00000020407
AA Change: M209I
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot11 |
A |
G |
4: 106,613,178 (GRCm39) |
V319A |
probably damaging |
Het |
| Afap1l1 |
A |
C |
18: 61,890,795 (GRCm39) |
S53A |
possibly damaging |
Het |
| Alms1 |
T |
A |
6: 85,600,125 (GRCm39) |
N1650K |
probably damaging |
Het |
| Atf6b |
T |
A |
17: 34,872,507 (GRCm39) |
V553E |
possibly damaging |
Het |
| Avl9 |
T |
A |
6: 56,707,634 (GRCm39) |
I193N |
probably damaging |
Het |
| Ceacam3 |
A |
G |
7: 16,895,688 (GRCm39) |
N553D |
|
Het |
| Dnah3 |
C |
A |
7: 119,550,216 (GRCm39) |
V389L |
probably benign |
Het |
| Erich6 |
T |
C |
3: 58,537,277 (GRCm39) |
M246V |
probably benign |
Het |
| F830016B08Rik |
A |
T |
18: 60,432,965 (GRCm39) |
D16V |
probably damaging |
Het |
| Fgfr1 |
T |
A |
8: 26,060,776 (GRCm39) |
Y483N |
probably damaging |
Het |
| Fmo4 |
T |
A |
1: 162,631,191 (GRCm39) |
M259L |
probably benign |
Het |
| Gnat2 |
T |
A |
3: 108,002,770 (GRCm39) |
D59E |
probably benign |
Het |
| Izumo3 |
T |
A |
4: 92,034,795 (GRCm39) |
Y94F |
probably damaging |
Het |
| Kcnb2 |
A |
T |
1: 15,781,444 (GRCm39) |
H772L |
probably benign |
Het |
| Kcnrg |
CACAACAA |
CACAA |
14: 61,845,009 (GRCm39) |
|
probably benign |
Het |
| Krt6b |
C |
T |
15: 101,586,996 (GRCm39) |
V259M |
probably benign |
Het |
| Lingo2 |
A |
G |
4: 35,709,885 (GRCm39) |
C32R |
|
Het |
| Lrrtm4 |
C |
T |
6: 80,000,064 (GRCm39) |
T492M |
probably damaging |
Het |
| Maea |
T |
A |
5: 33,526,050 (GRCm39) |
M242K |
possibly damaging |
Het |
| Mdga2 |
T |
C |
12: 66,736,206 (GRCm39) |
T341A |
probably benign |
Het |
| Mfsd14b |
C |
A |
13: 65,221,414 (GRCm39) |
V293L |
probably benign |
Het |
| Mmadhc |
A |
T |
2: 50,178,988 (GRCm39) |
S143R |
probably benign |
Het |
| Ms4a8a |
A |
G |
19: 11,056,956 (GRCm39) |
V42A |
probably benign |
Het |
| N4bp2l2 |
A |
T |
5: 150,585,103 (GRCm39) |
H292Q |
probably benign |
Het |
| Nkx2-2 |
A |
G |
2: 147,027,686 (GRCm39) |
Y85H |
possibly damaging |
Het |
| Pramel14 |
T |
C |
4: 143,720,818 (GRCm39) |
K41R |
possibly damaging |
Het |
| Psmb9 |
T |
A |
17: 34,402,119 (GRCm39) |
D159V |
probably damaging |
Het |
| Rgs4 |
T |
A |
1: 169,572,843 (GRCm39) |
D31V |
possibly damaging |
Het |
| Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
| Slc22a14 |
A |
G |
9: 119,008,528 (GRCm39) |
S247P |
probably benign |
Het |
| Slc26a7 |
G |
A |
4: 14,524,540 (GRCm39) |
T448I |
possibly damaging |
Het |
| Slc7a14 |
T |
A |
3: 31,278,166 (GRCm39) |
T480S |
probably benign |
Het |
| Spocd1 |
T |
C |
4: 129,850,463 (GRCm39) |
S830P |
unknown |
Het |
| Sycp2 |
A |
G |
2: 177,998,254 (GRCm39) |
S1089P |
probably damaging |
Het |
| Tcf4 |
A |
T |
18: 69,726,382 (GRCm39) |
|
probably benign |
Het |
| Tktl2 |
T |
C |
8: 66,965,813 (GRCm39) |
V457A |
probably benign |
Het |
| Tmem131 |
A |
T |
1: 36,847,069 (GRCm39) |
I1343N |
probably damaging |
Het |
| Tnrc6c |
G |
A |
11: 117,638,009 (GRCm39) |
A1164T |
probably damaging |
Het |
| Tomm5 |
G |
A |
4: 45,107,982 (GRCm39) |
R18W |
probably damaging |
Het |
| Ubxn7 |
T |
C |
16: 32,200,248 (GRCm39) |
S335P |
probably benign |
Het |
| Unc5c |
A |
C |
3: 141,495,654 (GRCm39) |
T508P |
probably damaging |
Het |
| Vmn1r213 |
A |
G |
13: 23,195,519 (GRCm39) |
D34G |
unknown |
Het |
| Vmn1r235 |
G |
T |
17: 21,482,330 (GRCm39) |
W218C |
possibly damaging |
Het |
| Vmn1r235 |
G |
T |
17: 21,482,329 (GRCm39) |
W218L |
probably benign |
Het |
| Vmn2r57 |
T |
C |
7: 41,076,006 (GRCm39) |
E502G |
probably benign |
Het |
| Wwc2 |
GCC |
GCCC |
8: 48,304,959 (GRCm39) |
|
probably null |
Het |
| Zfc3h1 |
T |
A |
10: 115,247,852 (GRCm39) |
H1018Q |
probably damaging |
Het |
| Zfp318 |
T |
A |
17: 46,710,421 (GRCm39) |
S715T |
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 |
|
|
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 |
|
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'- TGGCTCTGTTGTCATCACGC -3'
(R):5'- AGTTAAAGCCTACTGCACTTAGG -3'
Sequencing Primer
(F):5'- TGTTGTCATCACGCAGCAG -3'
(R):5'- ATGCCATTAAGATCTAGGGCC -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation