Incidental Mutation 'R0791:Tymp'
ID |
82424 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tymp
|
Ensembl Gene |
ENSMUSG00000022615 |
Gene Name |
thymidine phosphorylase |
Synonyms |
PDECGF, Ecgf1, gliostatin, Pdgfec, 2900072D10Rik, PD-ECGF |
MMRRC Submission |
038971-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0791 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
89256134-89261242 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 89259021 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 221
(K221R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023285
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023285]
[ENSMUST00000036987]
[ENSMUST00000049968]
[ENSMUST00000074552]
[ENSMUST00000088717]
[ENSMUST00000228111]
[ENSMUST00000167643]
[ENSMUST00000228977]
[ENSMUST00000227834]
[ENSMUST00000145259]
|
AlphaFold |
Q99N42 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023285
AA Change: K221R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000023285 Gene: ENSMUSG00000022615 AA Change: K221R
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
17 |
N/A |
INTRINSIC |
Pfam:Glycos_trans_3N
|
23 |
85 |
1.5e-20 |
PFAM |
Pfam:Glycos_transf_3
|
95 |
326 |
3.1e-50 |
PFAM |
PYNP_C
|
374 |
448 |
6.46e-14 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000036987
|
SMART Domains |
Protein: ENSMUSP00000036900 Gene: ENSMUSG00000008690
Domain | Start | End | E-Value | Type |
Pfam:DUF1032
|
20 |
576 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000049968
|
SMART Domains |
Protein: ENSMUSP00000053112 Gene: ENSMUSG00000047394
Domain | Start | End | E-Value | Type |
Pfam:SHIPPO-rpt
|
24 |
60 |
1.4e-4 |
PFAM |
Pfam:SHIPPO-rpt
|
101 |
129 |
1.6e-3 |
PFAM |
Pfam:SHIPPO-rpt
|
138 |
172 |
2.7e-6 |
PFAM |
Pfam:SHIPPO-rpt
|
181 |
211 |
2.5e-5 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000074552
|
SMART Domains |
Protein: ENSMUSP00000074139 Gene: ENSMUSG00000008690
Domain | Start | End | E-Value | Type |
Pfam:DUF1032
|
51 |
607 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000088717
|
SMART Domains |
Protein: ENSMUSP00000086095 Gene: ENSMUSG00000008690
Domain | Start | End | E-Value | Type |
Pfam:CNDH2_N
|
11 |
123 |
1.2e-48 |
PFAM |
Pfam:CNDH2_M
|
147 |
285 |
2.1e-20 |
PFAM |
Pfam:CNDH2_C
|
308 |
598 |
1.9e-90 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134900
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136638
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151523
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140665
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147207
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147733
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228111
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227854
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167643
|
SMART Domains |
Protein: ENSMUSP00000131943 Gene: ENSMUSG00000091780
Domain | Start | End | E-Value | Type |
Pfam:SCO1-SenC
|
52 |
234 |
1.4e-47 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228977
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228005
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227834
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145259
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226267
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227203
|
Meta Mutation Damage Score |
0.8174 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.8%
|
Validation Efficiency |
98% (59/60) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an angiogenic factor which promotes angiogenesis in vivo and stimulates the in vitro growth of a variety of endothelial cells. It has a highly restricted target cell specificity acting only on endothelial cells. Mutations in this gene have been associated with mitochondrial neurogastrointestinal encephalomyopathy. Multiple alternatively spliced transcript variants have been identified. [provided by RefSeq, Apr 2012] PHENOTYPE: Mice homozygous for a null allele exhibit reduced thymidine phosphorylase activity and increased thymidine levels. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
G |
A |
19: 8,994,098 (GRCm39) |
M5127I |
probably benign |
Het |
Akr1c13 |
T |
C |
13: 4,244,111 (GRCm39) |
Y55H |
probably damaging |
Het |
Armh3 |
A |
T |
19: 45,922,307 (GRCm39) |
|
probably null |
Het |
Atp2b2 |
C |
T |
6: 113,750,349 (GRCm39) |
R625H |
probably damaging |
Het |
Bpifb2 |
T |
C |
2: 153,720,439 (GRCm39) |
V66A |
probably benign |
Het |
Ccdc33 |
T |
C |
9: 57,936,046 (GRCm39) |
T950A |
possibly damaging |
Het |
Ceacam19 |
A |
T |
7: 19,616,557 (GRCm39) |
|
probably null |
Het |
Cenpn |
T |
A |
8: 117,667,559 (GRCm39) |
|
probably benign |
Het |
Ces1f |
A |
T |
8: 93,998,517 (GRCm39) |
Y160N |
possibly damaging |
Het |
Clca3a1 |
A |
C |
3: 144,710,615 (GRCm39) |
S863A |
probably benign |
Het |
Cntrl |
T |
A |
2: 35,045,291 (GRCm39) |
I781K |
possibly damaging |
Het |
Dock4 |
C |
T |
12: 40,754,480 (GRCm39) |
R490W |
probably damaging |
Het |
Evpl |
T |
A |
11: 116,118,549 (GRCm39) |
Q686L |
probably damaging |
Het |
Fbxw10 |
A |
G |
11: 62,738,282 (GRCm39) |
S59G |
probably benign |
Het |
Glb1l2 |
A |
G |
9: 26,681,047 (GRCm39) |
V218A |
possibly damaging |
Het |
Gpatch1 |
A |
T |
7: 34,980,801 (GRCm39) |
|
probably benign |
Het |
Grin2c |
G |
A |
11: 115,141,472 (GRCm39) |
P882L |
probably damaging |
Het |
H2-Ob |
C |
A |
17: 34,461,588 (GRCm39) |
T109N |
probably damaging |
Het |
Ipo8 |
A |
G |
6: 148,723,225 (GRCm39) |
V64A |
possibly damaging |
Het |
Jpt2 |
C |
A |
17: 25,167,647 (GRCm39) |
A101S |
probably benign |
Het |
Lamc1 |
C |
A |
1: 153,110,326 (GRCm39) |
Q1116H |
possibly damaging |
Het |
Lamc1 |
T |
C |
1: 153,110,358 (GRCm39) |
S1106G |
probably benign |
Het |
Lamc1 |
T |
G |
1: 153,110,341 (GRCm39) |
Q1111H |
probably damaging |
Het |
Large1 |
A |
G |
8: 73,775,107 (GRCm39) |
|
probably benign |
Het |
Lig4 |
A |
T |
8: 10,023,012 (GRCm39) |
V256E |
possibly damaging |
Het |
Mpz |
C |
A |
1: 170,986,343 (GRCm39) |
Q86K |
possibly damaging |
Het |
Mrps24 |
A |
G |
11: 5,654,684 (GRCm39) |
V90A |
possibly damaging |
Het |
Mtdh |
A |
G |
15: 34,116,528 (GRCm39) |
|
probably benign |
Het |
Mtor |
T |
C |
4: 148,547,367 (GRCm39) |
V450A |
probably benign |
Het |
Mycbpap |
A |
G |
11: 94,402,449 (GRCm39) |
|
probably null |
Het |
Myo6 |
T |
A |
9: 80,169,656 (GRCm39) |
|
probably benign |
Het |
Myom1 |
A |
T |
17: 71,428,131 (GRCm39) |
I1450F |
probably damaging |
Het |
Nbas |
T |
A |
12: 13,532,634 (GRCm39) |
S1781T |
probably benign |
Het |
Nedd1 |
T |
C |
10: 92,555,476 (GRCm39) |
E3G |
probably damaging |
Het |
Nt5c3 |
T |
C |
6: 56,863,734 (GRCm39) |
T149A |
probably benign |
Het |
Or5p56 |
A |
G |
7: 107,589,740 (GRCm39) |
H56R |
probably benign |
Het |
Osbp2 |
G |
A |
11: 3,661,882 (GRCm39) |
|
probably benign |
Het |
Paip1 |
T |
C |
13: 119,566,854 (GRCm39) |
S54P |
possibly damaging |
Het |
Pole2 |
G |
A |
12: 69,254,703 (GRCm39) |
L381F |
probably benign |
Het |
Prdm14 |
G |
T |
1: 13,195,968 (GRCm39) |
A31E |
probably benign |
Het |
Ptpn14 |
C |
T |
1: 189,568,637 (GRCm39) |
|
probably benign |
Het |
Rims2 |
A |
G |
15: 39,543,021 (GRCm39) |
|
probably benign |
Het |
Rnf20 |
A |
G |
4: 49,638,197 (GRCm39) |
N103S |
possibly damaging |
Het |
Sema3g |
T |
A |
14: 30,942,861 (GRCm39) |
|
probably benign |
Het |
Slc30a6 |
T |
C |
17: 74,722,640 (GRCm39) |
S236P |
possibly damaging |
Het |
Slc5a1 |
T |
C |
5: 33,315,421 (GRCm39) |
|
probably benign |
Het |
Snx25 |
A |
T |
8: 46,577,119 (GRCm39) |
M1K |
probably null |
Het |
Synpo2 |
A |
G |
3: 122,906,835 (GRCm39) |
V827A |
probably benign |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Trak2 |
A |
T |
1: 58,942,820 (GRCm39) |
M862K |
probably benign |
Het |
Trim42 |
A |
T |
9: 97,247,732 (GRCm39) |
H321Q |
probably damaging |
Het |
Twnk |
T |
C |
19: 44,998,693 (GRCm39) |
|
probably benign |
Het |
Uaca |
C |
A |
9: 60,779,341 (GRCm39) |
Q1243K |
possibly damaging |
Het |
Vwa8 |
T |
C |
14: 79,232,016 (GRCm39) |
|
probably benign |
Het |
Wnt4 |
C |
T |
4: 137,016,594 (GRCm39) |
R83W |
probably damaging |
Het |
Zfp820 |
T |
C |
17: 22,038,509 (GRCm39) |
D273G |
probably benign |
Het |
Zfp974 |
A |
T |
7: 27,609,510 (GRCm39) |
Y738* |
probably null |
Het |
Zkscan4 |
A |
C |
13: 21,668,081 (GRCm39) |
E177D |
probably benign |
Het |
|
Other mutations in Tymp |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01013:Tymp
|
APN |
15 |
89,260,513 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03355:Tymp
|
APN |
15 |
89,259,219 (GRCm39) |
missense |
possibly damaging |
0.80 |
PIT4142001:Tymp
|
UTSW |
15 |
89,260,548 (GRCm39) |
missense |
probably damaging |
1.00 |
R2219:Tymp
|
UTSW |
15 |
89,258,965 (GRCm39) |
missense |
probably benign |
|
R2266:Tymp
|
UTSW |
15 |
89,258,011 (GRCm39) |
missense |
probably damaging |
1.00 |
R2267:Tymp
|
UTSW |
15 |
89,258,011 (GRCm39) |
missense |
probably damaging |
1.00 |
R2268:Tymp
|
UTSW |
15 |
89,258,011 (GRCm39) |
missense |
probably damaging |
1.00 |
R4714:Tymp
|
UTSW |
15 |
89,260,510 (GRCm39) |
missense |
probably damaging |
1.00 |
R5247:Tymp
|
UTSW |
15 |
89,258,567 (GRCm39) |
frame shift |
probably null |
|
R5248:Tymp
|
UTSW |
15 |
89,258,567 (GRCm39) |
frame shift |
probably null |
|
R5249:Tymp
|
UTSW |
15 |
89,258,567 (GRCm39) |
frame shift |
probably null |
|
R5741:Tymp
|
UTSW |
15 |
89,260,639 (GRCm39) |
missense |
probably benign |
0.18 |
R5810:Tymp
|
UTSW |
15 |
89,258,534 (GRCm39) |
missense |
probably damaging |
0.99 |
R5960:Tymp
|
UTSW |
15 |
89,260,778 (GRCm39) |
critical splice donor site |
probably null |
|
R6082:Tymp
|
UTSW |
15 |
89,258,567 (GRCm39) |
frame shift |
probably null |
|
R6083:Tymp
|
UTSW |
15 |
89,258,567 (GRCm39) |
frame shift |
probably null |
|
R6085:Tymp
|
UTSW |
15 |
89,258,567 (GRCm39) |
frame shift |
probably null |
|
R6566:Tymp
|
UTSW |
15 |
89,257,803 (GRCm39) |
missense |
probably benign |
|
R6869:Tymp
|
UTSW |
15 |
89,260,894 (GRCm39) |
missense |
probably benign |
|
R6969:Tymp
|
UTSW |
15 |
89,258,251 (GRCm39) |
missense |
probably benign |
0.04 |
R7019:Tymp
|
UTSW |
15 |
89,260,484 (GRCm39) |
splice site |
probably null |
|
Z1177:Tymp
|
UTSW |
15 |
89,259,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AAATCCCATACCTGCTGTCCCTGG -3'
(R):5'- TCTGAGCAGATGCTGCACATCC -3'
Sequencing Primer
(F):5'- CGCAGTCAGGACAGCTTTG -3'
(R):5'- ATCCTGTATGCTGCACGAG -3'
|
Posted On |
2013-11-08 |