Incidental Mutation 'R5810:Tymp'
| ID |
447487 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tymp
|
| Ensembl Gene |
ENSMUSG00000022615 |
| Gene Name |
thymidine phosphorylase |
| Synonyms |
PDECGF, Ecgf1, gliostatin, Pdgfec, 2900072D10Rik, PD-ECGF |
| MMRRC Submission |
043395-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5810 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
89256134-89261242 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 89258534 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 269
(H269L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023285
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023285]
[ENSMUST00000036987]
[ENSMUST00000049968]
[ENSMUST00000074552]
[ENSMUST00000088717]
[ENSMUST00000167643]
[ENSMUST00000228111]
[ENSMUST00000145259]
[ENSMUST00000227834]
[ENSMUST00000228977]
|
| AlphaFold |
Q99N42 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023285
AA Change: H269L
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000023285
Gene: ENSMUSG00000022615
AA Change: H269L
| 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: ENSMUST00000147733
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147207
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140665
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226267
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000228005
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228111
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145259
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227203
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227834
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228977
|
| Meta Mutation Damage Score |
0.5611 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
100% (66/66) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
A |
G |
4: 53,079,631 (GRCm39) |
F866L |
probably benign |
Het |
| Abca16 |
T |
A |
7: 120,035,155 (GRCm39) |
C314S |
probably damaging |
Het |
| Actl11 |
C |
T |
9: 107,806,420 (GRCm39) |
P248S |
probably benign |
Het |
| Actr3 |
A |
G |
1: 125,344,116 (GRCm39) |
|
probably benign |
Het |
| Baz1a |
G |
A |
12: 54,974,500 (GRCm39) |
|
probably benign |
Het |
| Birc6 |
A |
C |
17: 74,977,369 (GRCm39) |
N4388T |
probably damaging |
Het |
| Bpifa5 |
G |
A |
2: 154,005,638 (GRCm39) |
|
probably null |
Het |
| Car13 |
A |
C |
3: 14,706,828 (GRCm39) |
|
probably null |
Het |
| Ceacam18 |
A |
T |
7: 43,286,382 (GRCm39) |
H85L |
probably benign |
Het |
| Cnnm3 |
A |
G |
1: 36,564,280 (GRCm39) |
E704G |
probably benign |
Het |
| Cyp4f14 |
T |
A |
17: 33,125,072 (GRCm39) |
I450F |
possibly damaging |
Het |
| Ddhd1 |
G |
T |
14: 45,840,164 (GRCm39) |
T710N |
probably damaging |
Het |
| Ddx60 |
C |
T |
8: 62,465,422 (GRCm39) |
Q1360* |
probably null |
Het |
| Dlg5 |
A |
G |
14: 24,196,322 (GRCm39) |
V1625A |
probably damaging |
Het |
| Dst |
G |
A |
1: 34,222,121 (GRCm39) |
|
probably benign |
Het |
| Dyrk2 |
G |
T |
10: 118,696,245 (GRCm39) |
H338N |
probably benign |
Het |
| Epb41l1 |
A |
T |
2: 156,341,575 (GRCm39) |
I187F |
probably damaging |
Het |
| Esd |
A |
G |
14: 74,983,051 (GRCm39) |
D221G |
probably damaging |
Het |
| Fam53b |
T |
A |
7: 132,361,893 (GRCm39) |
N45I |
probably damaging |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Fryl |
A |
T |
5: 73,248,098 (GRCm39) |
D1006E |
probably benign |
Het |
| Gli3 |
T |
C |
13: 15,818,894 (GRCm39) |
V232A |
probably damaging |
Het |
| Gm28308 |
C |
A |
6: 52,190,196 (GRCm39) |
|
probably benign |
Het |
| Gpatch1 |
G |
A |
7: 34,994,796 (GRCm39) |
A490V |
probably benign |
Het |
| Hoxa7 |
T |
C |
6: 52,193,004 (GRCm39) |
D128G |
probably benign |
Het |
| Igdcc4 |
A |
G |
9: 65,035,977 (GRCm39) |
T751A |
probably damaging |
Het |
| Igsf10 |
G |
A |
3: 59,226,492 (GRCm39) |
L2394F |
probably damaging |
Het |
| Il15ra |
A |
G |
2: 11,738,063 (GRCm39) |
|
probably null |
Het |
| Il17re |
C |
T |
6: 113,446,557 (GRCm39) |
A436V |
probably damaging |
Het |
| Krtap19-2 |
T |
C |
16: 88,671,124 (GRCm39) |
|
probably benign |
Het |
| Larp7-ps |
A |
T |
4: 92,079,820 (GRCm39) |
|
probably null |
Het |
| Lgals12 |
T |
C |
19: 7,584,085 (GRCm39) |
D4G |
probably benign |
Het |
| Liph |
A |
T |
16: 21,786,860 (GRCm39) |
L252Q |
probably damaging |
Het |
| Mtg1 |
T |
A |
7: 139,725,898 (GRCm39) |
|
probably null |
Het |
| Myo18b |
A |
G |
5: 112,982,316 (GRCm39) |
L1139P |
probably damaging |
Het |
| Ninl |
T |
C |
2: 150,792,088 (GRCm39) |
R812G |
probably benign |
Het |
| Npm3 |
A |
G |
19: 45,736,644 (GRCm39) |
I165T |
possibly damaging |
Het |
| Or1e22 |
G |
T |
11: 73,376,921 (GRCm39) |
S243* |
probably null |
Het |
| Osbpl9 |
A |
G |
4: 108,943,571 (GRCm39) |
V231A |
probably benign |
Het |
| Pgam2 |
T |
C |
11: 5,753,417 (GRCm39) |
H91R |
possibly damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,270,897 (GRCm39) |
W3219R |
probably benign |
Het |
| Procr |
A |
G |
2: 155,593,327 (GRCm39) |
K4E |
possibly damaging |
Het |
| Slc22a16 |
C |
T |
10: 40,471,314 (GRCm39) |
T495I |
possibly damaging |
Het |
| Slc22a6 |
A |
G |
19: 8,601,222 (GRCm39) |
K425E |
probably damaging |
Het |
| Slco6c1 |
A |
T |
1: 97,003,598 (GRCm39) |
C500S |
probably damaging |
Het |
| Snrpd2 |
G |
T |
7: 18,886,447 (GRCm39) |
V77F |
probably benign |
Het |
| Sp100 |
G |
A |
1: 85,593,006 (GRCm39) |
G145D |
probably benign |
Het |
| Spg7 |
G |
A |
8: 123,821,308 (GRCm39) |
E678K |
possibly damaging |
Het |
| Ssh1 |
T |
C |
5: 114,084,627 (GRCm39) |
K538E |
probably benign |
Het |
| Sspo |
C |
T |
6: 48,460,832 (GRCm39) |
R3356W |
probably benign |
Het |
| Stx1a |
G |
T |
5: 135,077,932 (GRCm39) |
V255F |
probably damaging |
Het |
| Tbc1d13 |
C |
A |
2: 30,032,380 (GRCm39) |
Q164K |
probably benign |
Het |
| Tfpi |
AATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGA |
AATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGA |
2: 84,264,768 (GRCm39) |
|
probably benign |
Het |
| Tpm2 |
T |
C |
4: 43,518,968 (GRCm39) |
|
probably benign |
Het |
| Triobp |
T |
C |
15: 78,852,467 (GRCm39) |
C874R |
probably benign |
Het |
| Vmn1r194 |
T |
A |
13: 22,428,597 (GRCm39) |
Y71* |
probably null |
Het |
| Vmn2r102 |
T |
C |
17: 19,897,804 (GRCm39) |
V273A |
probably benign |
Het |
| Vmn2r2 |
A |
T |
3: 64,024,815 (GRCm39) |
C589S |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,643,688 (GRCm39) |
T2063A |
probably benign |
Het |
| Ywhaz |
T |
C |
15: 36,775,510 (GRCm39) |
I217M |
probably damaging |
Het |
| Zfp322a |
A |
C |
13: 23,541,579 (GRCm39) |
Y54* |
probably null |
Het |
| Zswim9 |
A |
T |
7: 12,994,662 (GRCm39) |
V498D |
probably damaging |
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 |
|
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 |
|
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'- GCCTGTCCGCTAATCCAAAG -3'
(R):5'- CAATCAAAGCTGTCCTGACTG -3'
Sequencing Primer
(F):5'- AAAGAATGGCGCCTCCTG -3'
(R):5'- ACTGCGGACCTGGGGAAATC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation