Incidental Mutation 'R5248:Tymp'
| ID |
398694 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tymp
|
| Ensembl Gene |
ENSMUSG00000022615 |
| Gene Name |
thymidine phosphorylase |
| Synonyms |
PDECGF, Ecgf1, gliostatin, Pdgfec, 2900072D10Rik, PD-ECGF |
| MMRRC Submission |
042819-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5248 (G1)
|
| Quality Score |
217 |
|
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: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
T |
A |
6: 23,109,437 (GRCm39) |
E344D |
probably benign |
Het |
| Acoxl |
G |
A |
2: 127,917,855 (GRCm39) |
|
probably null |
Het |
| Adora1 |
A |
T |
1: 134,131,224 (GRCm39) |
L149Q |
possibly damaging |
Het |
| Aebp1 |
C |
A |
11: 5,818,501 (GRCm39) |
D115E |
possibly damaging |
Het |
| Ank3 |
A |
G |
10: 69,822,938 (GRCm39) |
I1819V |
probably benign |
Het |
| Ankrd44 |
T |
C |
1: 54,706,539 (GRCm39) |
H454R |
probably damaging |
Het |
| Ap4e1 |
C |
T |
2: 126,906,842 (GRCm39) |
A1034V |
possibly damaging |
Het |
| B3galt2 |
T |
A |
1: 143,522,849 (GRCm39) |
F328L |
probably benign |
Het |
| Bbip1 |
G |
A |
19: 53,919,786 (GRCm39) |
|
probably benign |
Het |
| Brsk1 |
G |
A |
7: 4,711,865 (GRCm39) |
E572K |
possibly damaging |
Het |
| Clca3a1 |
G |
T |
3: 144,442,897 (GRCm39) |
P716T |
possibly damaging |
Het |
| Clpx |
T |
C |
9: 65,228,132 (GRCm39) |
V380A |
probably damaging |
Het |
| Epha3 |
T |
A |
16: 63,418,620 (GRCm39) |
Q608H |
probably damaging |
Het |
| Gprc6a |
G |
T |
10: 51,491,089 (GRCm39) |
P712T |
probably damaging |
Het |
| Itpr1 |
C |
A |
6: 108,519,023 (GRCm39) |
Q2720K |
probably damaging |
Het |
| Kdm5b |
A |
G |
1: 134,548,735 (GRCm39) |
E1080G |
probably benign |
Het |
| Macf1 |
G |
A |
4: 123,295,567 (GRCm39) |
R3163* |
probably null |
Het |
| Map4k5 |
T |
C |
12: 69,888,755 (GRCm39) |
D292G |
probably benign |
Het |
| Mau2 |
A |
T |
8: 70,481,373 (GRCm39) |
C217S |
probably benign |
Het |
| Mtf1 |
T |
C |
4: 124,714,220 (GRCm39) |
F210L |
probably damaging |
Het |
| Mtif2 |
G |
A |
11: 29,486,889 (GRCm39) |
V300M |
probably damaging |
Het |
| Mtmr2 |
T |
C |
9: 13,694,905 (GRCm39) |
|
probably benign |
Het |
| Mybpc3 |
C |
A |
2: 90,955,573 (GRCm39) |
|
probably null |
Het |
| Ncmap |
T |
C |
4: 135,107,430 (GRCm39) |
|
probably null |
Het |
| Nek9 |
A |
G |
12: 85,355,751 (GRCm39) |
F672S |
probably damaging |
Het |
| Nuak1 |
A |
T |
10: 84,245,542 (GRCm39) |
I101N |
probably damaging |
Het |
| Or8s16 |
T |
C |
15: 98,211,311 (GRCm39) |
N40S |
probably damaging |
Het |
| Pcdh7 |
T |
A |
5: 58,286,515 (GRCm39) |
M1197K |
probably damaging |
Het |
| Pcdhb17 |
A |
C |
18: 37,618,939 (GRCm39) |
Q243P |
probably benign |
Het |
| Pcf11 |
T |
G |
7: 92,310,699 (GRCm39) |
K221Q |
probably damaging |
Het |
| Pkhd1 |
C |
T |
1: 20,604,769 (GRCm39) |
R1182H |
probably benign |
Het |
| Ptprz1 |
C |
A |
6: 23,001,900 (GRCm39) |
P1330Q |
probably benign |
Het |
| Rbm33 |
T |
G |
5: 28,542,050 (GRCm39) |
|
probably null |
Het |
| Rhobtb1 |
A |
G |
10: 69,084,615 (GRCm39) |
D2G |
probably damaging |
Het |
| Rngtt |
T |
A |
4: 33,325,110 (GRCm39) |
C110* |
probably null |
Het |
| Setx |
T |
A |
2: 29,038,430 (GRCm39) |
N1638K |
probably benign |
Het |
| Slc24a3 |
A |
T |
2: 145,446,437 (GRCm39) |
M282L |
probably benign |
Het |
| Slc7a1 |
A |
T |
5: 148,270,798 (GRCm39) |
V556D |
possibly damaging |
Het |
| Sppl2c |
A |
T |
11: 104,077,407 (GRCm39) |
D69V |
possibly damaging |
Het |
| Srpk3 |
C |
T |
X: 72,818,555 (GRCm39) |
R82* |
probably null |
Het |
| Tas2r120 |
A |
T |
6: 132,634,110 (GRCm39) |
N64I |
probably damaging |
Het |
| Tcf25 |
G |
T |
8: 124,100,678 (GRCm39) |
A23S |
probably damaging |
Het |
| Tigd2 |
A |
T |
6: 59,188,138 (GRCm39) |
K335I |
probably damaging |
Het |
| Tlr6 |
A |
G |
5: 65,112,647 (GRCm39) |
S87P |
probably benign |
Het |
| Tmem135 |
T |
A |
7: 88,797,200 (GRCm39) |
Y352F |
probably damaging |
Het |
| Tob2 |
T |
C |
15: 81,735,918 (GRCm39) |
Y17C |
probably damaging |
Het |
| Vmn1r179 |
T |
C |
7: 23,628,478 (GRCm39) |
V223A |
probably damaging |
Het |
| Zfp946 |
T |
C |
17: 22,673,447 (GRCm39) |
V67A |
probably benign |
Het |
| Zswim4 |
G |
T |
8: 84,946,561 (GRCm39) |
N698K |
probably benign |
Het |
| Zzz3 |
A |
G |
3: 152,133,182 (GRCm39) |
Q80R |
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 |
|
|
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'- TCAGAAGCTGCAGGGATTG -3'
(R):5'- CCAATCAAAGCTGTCCTGACTG -3'
Sequencing Primer
(F):5'- ATTGAGAGCTCCTGGCATAC -3'
(R):5'- ACTGCGGACCTGGGGAAATC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation