Incidental Mutation 'R6082:Tymp'
| ID |
482258 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tymp
|
| Ensembl Gene |
ENSMUSG00000022615 |
| Gene Name |
thymidine phosphorylase |
| Synonyms |
PDECGF, Ecgf1, gliostatin, Pdgfec, 2900072D10Rik, PD-ECGF |
| MMRRC Submission |
044241-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6082 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
89256134-89261242 bp(-) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
GC to GCC
at 89258567 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023285
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023285]
[ENSMUST00000036987]
[ENSMUST00000049968]
[ENSMUST00000074552]
[ENSMUST00000088717]
[ENSMUST00000227834]
[ENSMUST00000167643]
[ENSMUST00000145259]
[ENSMUST00000228111]
[ENSMUST00000228977]
|
| AlphaFold |
Q99N42 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000023285
|
| SMART Domains |
Protein: ENSMUSP00000023285
Gene: ENSMUSG00000022615
| 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: ENSMUST00000147207
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147733
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140665
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151523
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227203
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227834
|
| 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: ENSMUST00000145259
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228005
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228111
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228977
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226267
|
| Meta Mutation Damage Score |
0.9756 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.4%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
T |
C |
1: 11,868,752 (GRCm39) |
I344T |
probably benign |
Het |
| Adamts19 |
G |
A |
18: 59,101,846 (GRCm39) |
A639T |
probably benign |
Het |
| Adamts9 |
T |
C |
6: 92,866,930 (GRCm39) |
D122G |
probably damaging |
Het |
| Bin2 |
A |
G |
15: 100,543,029 (GRCm39) |
S358P |
possibly damaging |
Het |
| Bora |
A |
T |
14: 99,299,730 (GRCm39) |
Q234L |
possibly damaging |
Het |
| Btaf1 |
C |
T |
19: 36,960,942 (GRCm39) |
R772C |
probably damaging |
Het |
| Cenpf |
T |
C |
1: 189,390,301 (GRCm39) |
E1177G |
probably benign |
Het |
| Clec4b2 |
A |
T |
6: 123,181,100 (GRCm39) |
|
probably null |
Het |
| Dedd2 |
G |
A |
7: 24,910,715 (GRCm39) |
P154S |
probably benign |
Het |
| Dennd5b |
A |
G |
6: 148,970,193 (GRCm39) |
S87P |
probably damaging |
Het |
| Dhx8 |
C |
T |
11: 101,655,139 (GRCm39) |
R1050W |
probably damaging |
Het |
| Eif3a |
T |
C |
19: 60,760,568 (GRCm39) |
K682R |
possibly damaging |
Het |
| Eif4e2 |
G |
T |
1: 87,153,956 (GRCm39) |
|
probably null |
Het |
| Ephb1 |
T |
C |
9: 101,848,303 (GRCm39) |
D665G |
probably damaging |
Het |
| Gbp7 |
G |
A |
3: 142,251,697 (GRCm39) |
V515M |
probably benign |
Het |
| Hnrnpdl |
C |
T |
5: 100,184,340 (GRCm39) |
G398S |
probably null |
Het |
| Hook3 |
C |
A |
8: 26,600,813 (GRCm39) |
A32S |
probably benign |
Het |
| Hoxb4 |
T |
C |
11: 96,209,359 (GRCm39) |
|
probably benign |
Het |
| Idi1 |
T |
A |
13: 8,940,506 (GRCm39) |
Y229* |
probably null |
Het |
| Lpl |
A |
T |
8: 69,349,301 (GRCm39) |
I276F |
probably damaging |
Het |
| Ltbp4 |
T |
C |
7: 27,035,105 (GRCm39) |
|
probably benign |
Het |
| Mphosph8 |
A |
G |
14: 56,905,998 (GRCm39) |
I64V |
probably damaging |
Het |
| Mroh1 |
A |
G |
15: 76,314,423 (GRCm39) |
D700G |
probably benign |
Het |
| Myt1l |
G |
A |
12: 29,882,331 (GRCm39) |
G509R |
unknown |
Het |
| Myt1l |
T |
C |
12: 29,892,518 (GRCm39) |
Y52H |
probably damaging |
Het |
| Nlrp9a |
T |
A |
7: 26,267,402 (GRCm39) |
D777E |
probably benign |
Het |
| Nudt4 |
A |
G |
10: 95,387,318 (GRCm39) |
I82T |
probably benign |
Het |
| Nwd2 |
T |
C |
5: 63,962,374 (GRCm39) |
C653R |
possibly damaging |
Het |
| Obscn |
A |
G |
11: 58,890,393 (GRCm39) |
Y7380H |
unknown |
Het |
| Or13a18 |
A |
G |
7: 140,190,594 (GRCm39) |
T172A |
probably benign |
Het |
| Or8b3b |
C |
A |
9: 38,583,866 (GRCm39) |
R291S |
probably damaging |
Het |
| Or8j3 |
A |
C |
2: 86,028,661 (GRCm39) |
V145G |
probably damaging |
Het |
| Or8s8 |
C |
T |
15: 98,354,647 (GRCm39) |
A152V |
probably damaging |
Het |
| Ptk2 |
A |
T |
15: 73,148,714 (GRCm39) |
M409K |
probably damaging |
Het |
| Ptpn11 |
T |
C |
5: 121,292,589 (GRCm39) |
T253A |
probably benign |
Het |
| Rabl6 |
C |
T |
2: 25,473,837 (GRCm39) |
|
probably benign |
Het |
| Rnf14 |
T |
C |
18: 38,434,723 (GRCm39) |
S57P |
possibly damaging |
Het |
| Scnm1 |
T |
C |
3: 95,037,596 (GRCm39) |
I157V |
probably benign |
Het |
| Slco1b2 |
A |
C |
6: 141,609,396 (GRCm39) |
I269L |
probably benign |
Het |
| Smchd1 |
A |
G |
17: 71,656,714 (GRCm39) |
Y1918H |
probably benign |
Het |
| Spag17 |
A |
T |
3: 100,031,501 (GRCm39) |
I2255F |
possibly damaging |
Het |
| Spata31g1 |
A |
G |
4: 42,972,511 (GRCm39) |
M615V |
probably benign |
Het |
| Tnnt2 |
A |
G |
1: 135,777,172 (GRCm39) |
M199V |
probably benign |
Het |
| Vmn2r73 |
T |
A |
7: 85,507,429 (GRCm39) |
I628L |
probably benign |
Het |
| Zc2hc1b |
C |
A |
10: 13,047,055 (GRCm39) |
E19* |
probably null |
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 |
|
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 |
|
|
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'- CTCAGAAGCTGCAGGGATTGAG -3'
(R):5'- CCAATCAAAGCTGTCCTGACTG -3'
Sequencing Primer
(F):5'- ATTGAGAGCTCCTGGCATAC -3'
(R):5'- ACTGCGGACCTGGGGAAATC -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation