Incidental Mutation 'IGL01013:Tymp'
| ID |
53996 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tymp
|
| Ensembl Gene |
ENSMUSG00000022615 |
| Gene Name |
thymidine phosphorylase |
| Synonyms |
PDECGF, Ecgf1, gliostatin, Pdgfec, 2900072D10Rik, PD-ECGF |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01013
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
89256134-89261242 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 89260513 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 102
(H102Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023285
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023285]
[ENSMUST00000036987]
[ENSMUST00000049968]
[ENSMUST00000074552]
[ENSMUST00000088717]
[ENSMUST00000145259]
[ENSMUST00000228111]
[ENSMUST00000167643]
[ENSMUST00000228977]
[ENSMUST00000227834]
|
| AlphaFold |
Q99N42 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023285
AA Change: H102Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023285
Gene: ENSMUSG00000022615
AA Change: H102Y
| 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: ENSMUST00000140665
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145259
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147733
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228005
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226267
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228111
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000227854
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228977
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227203
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227834
|
| 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 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
T |
A |
5: 77,034,053 (GRCm39) |
E499D |
possibly damaging |
Het |
| Abca1 |
A |
T |
4: 53,038,185 (GRCm39) |
L2059* |
probably null |
Het |
| Ankar |
T |
A |
1: 72,690,148 (GRCm39) |
I1228F |
possibly damaging |
Het |
| Appl1 |
A |
T |
14: 26,671,433 (GRCm39) |
Y340N |
possibly damaging |
Het |
| Atp8b4 |
C |
A |
2: 126,165,007 (GRCm39) |
R1103L |
probably benign |
Het |
| B4galt6 |
A |
G |
18: 20,822,070 (GRCm39) |
V308A |
probably damaging |
Het |
| Ccdc162 |
G |
A |
10: 41,457,335 (GRCm39) |
P1534L |
probably benign |
Het |
| Ccdc78 |
A |
G |
17: 26,008,028 (GRCm39) |
E313G |
possibly damaging |
Het |
| Cep57l1 |
G |
A |
10: 41,616,865 (GRCm39) |
R141* |
probably null |
Het |
| Cpsf1 |
G |
A |
15: 76,483,497 (GRCm39) |
Q883* |
probably null |
Het |
| Crot |
A |
G |
5: 9,043,575 (GRCm39) |
Y16H |
probably benign |
Het |
| Cyld |
T |
G |
8: 89,468,990 (GRCm39) |
L587R |
probably damaging |
Het |
| Fam114a1 |
G |
A |
5: 65,188,738 (GRCm39) |
|
probably null |
Het |
| Fam89b |
G |
T |
19: 5,779,397 (GRCm39) |
D53E |
probably benign |
Het |
| Fig4 |
T |
C |
10: 41,143,782 (GRCm39) |
M226V |
probably benign |
Het |
| Gm10722 |
A |
T |
9: 3,002,230 (GRCm39) |
Y184F |
probably damaging |
Het |
| Hp |
C |
A |
8: 110,305,653 (GRCm39) |
|
probably benign |
Het |
| Igsf9b |
G |
T |
9: 27,245,600 (GRCm39) |
R1189L |
probably damaging |
Het |
| Ilf3 |
A |
G |
9: 21,310,987 (GRCm39) |
N620D |
possibly damaging |
Het |
| Jakmip3 |
A |
C |
7: 138,619,302 (GRCm39) |
E228A |
possibly damaging |
Het |
| Kpna3 |
A |
T |
14: 61,607,966 (GRCm39) |
I413K |
probably damaging |
Het |
| Letm1 |
A |
T |
5: 33,919,934 (GRCm39) |
C202S |
possibly damaging |
Het |
| Lmod2 |
C |
A |
6: 24,604,134 (GRCm39) |
Q370K |
probably damaging |
Het |
| Map4k5 |
T |
C |
12: 69,874,300 (GRCm39) |
|
probably benign |
Het |
| Mcidas |
T |
A |
13: 113,134,119 (GRCm39) |
|
probably benign |
Het |
| Mme |
A |
G |
3: 63,235,281 (GRCm39) |
|
probably null |
Het |
| Mrc1 |
T |
C |
2: 14,333,236 (GRCm39) |
W1306R |
probably damaging |
Het |
| Mthfd1l |
C |
A |
10: 3,980,716 (GRCm39) |
Q473K |
probably damaging |
Het |
| Muc6 |
A |
T |
7: 141,234,333 (GRCm39) |
C719* |
probably null |
Het |
| Nsun7 |
T |
C |
5: 66,440,944 (GRCm39) |
I355T |
possibly damaging |
Het |
| Padi6 |
A |
G |
4: 140,456,314 (GRCm39) |
L560P |
probably damaging |
Het |
| Parl |
C |
A |
16: 20,101,540 (GRCm39) |
A285S |
possibly damaging |
Het |
| Pclo |
A |
T |
5: 14,843,848 (GRCm39) |
M4795L |
unknown |
Het |
| Polr2f |
A |
G |
15: 79,030,329 (GRCm39) |
Y56C |
probably damaging |
Het |
| Rasgrp2 |
A |
T |
19: 6,454,413 (GRCm39) |
H152L |
probably damaging |
Het |
| Rpl10l |
T |
C |
12: 66,331,001 (GRCm39) |
D44G |
probably benign |
Het |
| Slc25a16 |
A |
G |
10: 62,780,212 (GRCm39) |
|
probably null |
Het |
| Snrnp200 |
G |
A |
2: 127,074,392 (GRCm39) |
E1411K |
probably damaging |
Het |
| Tanc2 |
G |
A |
11: 105,515,891 (GRCm39) |
R3Q |
probably damaging |
Het |
| Tbc1d32 |
G |
T |
10: 56,078,055 (GRCm39) |
|
probably null |
Het |
| Tcf7l2 |
T |
C |
19: 55,908,059 (GRCm39) |
|
probably benign |
Het |
| Tnrc6c |
G |
T |
11: 117,612,855 (GRCm39) |
V498L |
probably benign |
Het |
| Wdr76 |
T |
C |
2: 121,365,978 (GRCm39) |
S492P |
probably benign |
Het |
| Zc3h12d |
T |
C |
10: 7,715,720 (GRCm39) |
I41T |
probably damaging |
Het |
|
| Other mutations in Tymp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R0791:Tymp
|
UTSW |
15 |
89,259,021 (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 |
|
| Posted On |
2013-06-28 |
Incidental Mutation