Incidental Mutation 'R4063:Upp1'
ID |
315976 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Upp1
|
Ensembl Gene |
ENSMUSG00000020407 |
Gene Name |
uridine phosphorylase 1 |
Synonyms |
UPase, Up, UdRPase |
MMRRC Submission |
041619-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.240)
|
Stock # |
R4063 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
9068103-9086170 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 9081709 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Glutamine
at position 82
(P82Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129787
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020677]
[ENSMUST00000101525]
[ENSMUST00000130522]
[ENSMUST00000164791]
[ENSMUST00000170444]
[ENSMUST00000172452]
|
AlphaFold |
P52624 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020677
AA Change: P82Q
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000020677 Gene: ENSMUSG00000020407 AA Change: P82Q
Domain | Start | End | E-Value | Type |
Pfam:PNP_UDP_1
|
55 |
305 |
1.9e-32 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000101525
AA Change: P82Q
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000099063 Gene: ENSMUSG00000020407 AA Change: P82Q
Domain | Start | End | E-Value | Type |
Pfam:PNP_UDP_1
|
55 |
305 |
1.9e-31 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000130522
AA Change: P82Q
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000123285 Gene: ENSMUSG00000020407 AA Change: P82Q
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 damaging
Transcript: ENSMUST00000164791
AA Change: P82Q
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000127473 Gene: ENSMUSG00000020407 AA Change: P82Q
Domain | Start | End | E-Value | Type |
Pfam:PNP_UDP_1
|
55 |
305 |
1.9e-32 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000166455
AA Change: P71Q
|
SMART Domains |
Protein: ENSMUSP00000129276 Gene: ENSMUSG00000020407 AA Change: P71Q
Domain | Start | End | E-Value | Type |
Pfam:PNP_UDP_1
|
45 |
143 |
6.9e-7 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000170444
AA Change: P82Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000125934 Gene: ENSMUSG00000020407 AA Change: P82Q
Domain | Start | End | E-Value | Type |
Pfam:PNP_UDP_1
|
55 |
149 |
3.9e-10 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000172452
AA Change: P82Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000129787 Gene: ENSMUSG00000020407 AA Change: P82Q
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 |
0.1361 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
97% (59/61) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700034J05Rik |
A |
T |
6: 146,854,606 (GRCm39) |
F145L |
probably benign |
Het |
Abcc9 |
T |
C |
6: 142,551,645 (GRCm39) |
D1221G |
possibly damaging |
Het |
Adamtsl4 |
T |
C |
3: 95,584,864 (GRCm39) |
K935E |
probably benign |
Het |
Ago4 |
A |
T |
4: 126,409,655 (GRCm39) |
|
probably benign |
Het |
Arhgef28 |
T |
C |
13: 98,130,575 (GRCm39) |
D421G |
probably benign |
Het |
Armh4 |
T |
A |
14: 50,011,444 (GRCm39) |
M88L |
probably benign |
Het |
Atl2 |
T |
C |
17: 80,157,588 (GRCm39) |
*413W |
probably null |
Het |
B4galt7 |
C |
A |
13: 55,756,152 (GRCm39) |
|
probably null |
Het |
Bltp3b |
A |
G |
10: 89,651,917 (GRCm39) |
N247S |
probably benign |
Het |
C8g |
A |
T |
2: 25,389,425 (GRCm39) |
S147T |
probably damaging |
Het |
Clstn3 |
A |
T |
6: 124,426,792 (GRCm39) |
Y510N |
possibly damaging |
Het |
Cnot2 |
A |
G |
10: 116,373,301 (GRCm39) |
V34A |
possibly damaging |
Het |
Cyb5d2 |
A |
T |
11: 72,686,606 (GRCm39) |
|
probably benign |
Het |
Dnah5 |
T |
C |
15: 28,421,144 (GRCm39) |
I3827T |
probably damaging |
Het |
Dnah7a |
G |
T |
1: 53,464,376 (GRCm39) |
Q3672K |
probably benign |
Het |
Dock1 |
A |
T |
7: 134,717,021 (GRCm39) |
Y1219F |
possibly damaging |
Het |
Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
Fat1 |
A |
T |
8: 45,478,518 (GRCm39) |
E2521D |
probably benign |
Het |
Gm10719 |
G |
T |
9: 3,019,043 (GRCm39) |
W96L |
probably damaging |
Het |
H2-M2 |
G |
A |
17: 37,792,399 (GRCm39) |
H291Y |
probably damaging |
Het |
Hmgcl |
T |
C |
4: 135,686,035 (GRCm39) |
Y167H |
probably damaging |
Het |
Il22ra2 |
A |
T |
10: 19,502,400 (GRCm39) |
D73V |
possibly damaging |
Het |
Incenp |
A |
T |
19: 9,861,142 (GRCm39) |
M480K |
unknown |
Het |
Irag1 |
G |
T |
7: 110,522,984 (GRCm39) |
A359D |
probably benign |
Het |
Kdm6a |
A |
G |
X: 18,117,114 (GRCm39) |
T266A |
probably benign |
Het |
Lipf |
A |
G |
19: 33,942,965 (GRCm39) |
N91S |
probably benign |
Het |
M1ap |
A |
T |
6: 82,980,756 (GRCm39) |
N214I |
probably damaging |
Het |
Mast3 |
A |
G |
8: 71,233,838 (GRCm39) |
V969A |
probably damaging |
Het |
Mdga1 |
A |
G |
17: 30,057,005 (GRCm39) |
C826R |
probably damaging |
Het |
Msx1 |
C |
A |
5: 37,981,365 (GRCm39) |
A105S |
probably benign |
Het |
Or5ac23 |
A |
C |
16: 59,149,243 (GRCm39) |
S210A |
probably benign |
Het |
Otogl |
A |
T |
10: 107,626,510 (GRCm39) |
D1451E |
probably benign |
Het |
Otop2 |
G |
A |
11: 115,220,201 (GRCm39) |
G347D |
probably damaging |
Het |
Ppp1r13l |
A |
T |
7: 19,103,978 (GRCm39) |
H153L |
probably benign |
Het |
Pramel21 |
A |
G |
4: 143,342,559 (GRCm39) |
D222G |
possibly damaging |
Het |
Pramel29 |
T |
C |
4: 143,935,265 (GRCm39) |
K161E |
possibly damaging |
Het |
Proz |
A |
G |
8: 13,114,621 (GRCm39) |
Y85C |
probably damaging |
Het |
Prss50 |
A |
G |
9: 110,687,480 (GRCm39) |
D141G |
probably benign |
Het |
Rad54l2 |
T |
A |
9: 106,597,613 (GRCm39) |
Q131L |
probably benign |
Het |
Sdha |
A |
G |
13: 74,472,077 (GRCm39) |
|
probably benign |
Het |
Sema3d |
T |
A |
5: 12,635,091 (GRCm39) |
I719N |
probably benign |
Het |
Slc18b1 |
A |
T |
10: 23,681,879 (GRCm39) |
I148L |
probably benign |
Het |
Tacc2 |
G |
T |
7: 130,330,852 (GRCm39) |
D2086Y |
probably damaging |
Het |
Tchh |
T |
C |
3: 93,354,298 (GRCm39) |
L1246P |
unknown |
Het |
Tmprss11d |
T |
C |
5: 86,457,177 (GRCm39) |
I161V |
probably benign |
Het |
Trpc3 |
T |
C |
3: 36,725,172 (GRCm39) |
D268G |
probably damaging |
Het |
Trpm8 |
G |
A |
1: 88,289,727 (GRCm39) |
R895H |
probably damaging |
Het |
Txndc2 |
A |
G |
17: 65,945,079 (GRCm39) |
I366T |
possibly damaging |
Het |
Ugt2a3 |
T |
C |
5: 87,484,725 (GRCm39) |
I100V |
probably benign |
Het |
Vim |
A |
G |
2: 13,584,827 (GRCm39) |
|
probably null |
Het |
Vmn2r12 |
A |
T |
5: 109,240,058 (GRCm39) |
N168K |
possibly damaging |
Het |
Zdhhc14 |
G |
T |
17: 5,802,983 (GRCm39) |
C362F |
probably damaging |
Het |
Zfp292 |
A |
G |
4: 34,810,863 (GRCm39) |
V727A |
probably damaging |
Het |
Zswim5 |
G |
A |
4: 116,735,177 (GRCm39) |
G174D |
unknown |
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 |
|
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'- TAGTCCCTTCAGATACACCTGG -3'
(R):5'- ACAAACACTAGGGTGCCAGC -3'
Sequencing Primer
(F):5'- AAACTTGCTAGGAAGTTCCCAG -3'
(R):5'- AACACTAGGGTGCCAGCTGTTC -3'
|
Posted On |
2015-05-15 |