Incidental Mutation 'IGL03355:Tymp'
ID |
419908 |
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 # |
IGL03355
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
89256134-89261242 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 89259219 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 195
(D195G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023285
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023285]
[ENSMUST00000036987]
[ENSMUST00000049968]
[ENSMUST00000074552]
[ENSMUST00000088717]
[ENSMUST00000228977]
[ENSMUST00000228111]
[ENSMUST00000227834]
[ENSMUST00000145259]
[ENSMUST00000167643]
|
AlphaFold |
Q99N42 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023285
AA Change: D195G
PolyPhen 2
Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000023285 Gene: ENSMUSG00000022615 AA Change: D195G
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: ENSMUST00000147733
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140665
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151523
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147207
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228977
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228111
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228005
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227203
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227854
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226267
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227834
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145259
|
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 |
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actrt1 |
T |
C |
X: 45,418,624 (GRCm39) |
V213A |
probably benign |
Het |
Adam28 |
A |
T |
14: 68,872,252 (GRCm39) |
|
probably benign |
Het |
Apeh |
T |
C |
9: 107,963,644 (GRCm39) |
H557R |
probably benign |
Het |
Atmin |
T |
A |
8: 117,684,164 (GRCm39) |
L608* |
probably null |
Het |
B3gnt5 |
A |
T |
16: 19,587,903 (GRCm39) |
M41L |
probably benign |
Het |
Best3 |
T |
C |
10: 116,829,010 (GRCm39) |
F97L |
possibly damaging |
Het |
Chmp1b2 |
C |
A |
X: 106,831,889 (GRCm39) |
V180F |
possibly damaging |
Het |
Col7a1 |
G |
A |
9: 108,807,228 (GRCm39) |
V2486M |
unknown |
Het |
Crym |
T |
C |
7: 119,798,536 (GRCm39) |
|
probably null |
Het |
Cubn |
T |
C |
2: 13,482,868 (GRCm39) |
|
probably null |
Het |
Dnah7b |
A |
G |
1: 46,158,464 (GRCm39) |
D349G |
probably benign |
Het |
Eea1 |
T |
C |
10: 95,878,074 (GRCm39) |
|
probably benign |
Het |
Emc1 |
C |
T |
4: 139,098,904 (GRCm39) |
|
probably benign |
Het |
Eps8 |
T |
C |
6: 137,489,143 (GRCm39) |
|
probably benign |
Het |
Ereg |
A |
G |
5: 91,236,440 (GRCm39) |
|
probably benign |
Het |
Faah |
G |
A |
4: 115,859,725 (GRCm39) |
P369S |
probably benign |
Het |
Fam135a |
A |
T |
1: 24,068,249 (GRCm39) |
N703K |
possibly damaging |
Het |
Frmpd1 |
T |
C |
4: 45,279,140 (GRCm39) |
S622P |
probably damaging |
Het |
Gm10030 |
A |
G |
9: 110,835,841 (GRCm39) |
|
noncoding transcript |
Het |
Gpr179 |
A |
T |
11: 97,228,434 (GRCm39) |
S1240R |
possibly damaging |
Het |
Hax1 |
A |
T |
3: 89,904,754 (GRCm39) |
H146Q |
possibly damaging |
Het |
Ift46 |
A |
G |
9: 44,693,445 (GRCm39) |
N31D |
possibly damaging |
Het |
Kel |
C |
T |
6: 41,675,821 (GRCm39) |
|
probably null |
Het |
Khk |
A |
T |
5: 31,086,904 (GRCm39) |
I108L |
probably benign |
Het |
Morc4 |
T |
C |
X: 138,750,431 (GRCm39) |
N375S |
probably null |
Het |
Mta3 |
A |
T |
17: 84,107,474 (GRCm39) |
|
probably benign |
Het |
Nacc2 |
T |
C |
2: 25,952,249 (GRCm39) |
K369R |
probably damaging |
Het |
Nkap |
T |
C |
X: 36,403,323 (GRCm39) |
|
probably benign |
Het |
Obscn |
A |
T |
11: 58,928,618 (GRCm39) |
L6016Q |
probably damaging |
Het |
Or52e2 |
T |
C |
7: 102,804,408 (GRCm39) |
E182G |
probably damaging |
Het |
Or8c9 |
A |
T |
9: 38,240,952 (GRCm39) |
Q20L |
probably benign |
Het |
Pde4c |
T |
A |
8: 71,199,244 (GRCm39) |
L182Q |
probably damaging |
Het |
Pla2g10 |
G |
T |
16: 13,548,284 (GRCm39) |
|
probably null |
Het |
Rap1gap2 |
T |
A |
11: 74,303,170 (GRCm39) |
I426F |
probably damaging |
Het |
Rbm33 |
C |
A |
5: 28,596,059 (GRCm39) |
|
probably benign |
Het |
Rnf139 |
C |
A |
15: 58,771,881 (GRCm39) |
D635E |
probably benign |
Het |
Sar1a |
T |
C |
10: 61,520,718 (GRCm39) |
V15A |
possibly damaging |
Het |
Scarb1 |
A |
C |
5: 125,366,766 (GRCm39) |
S56A |
probably benign |
Het |
Scn3a |
T |
C |
2: 65,290,912 (GRCm39) |
K1945E |
possibly damaging |
Het |
Sec62 |
G |
A |
3: 30,864,071 (GRCm39) |
G118R |
unknown |
Het |
Sgce |
T |
A |
6: 4,689,738 (GRCm39) |
Q356L |
probably damaging |
Het |
Slco4c1 |
A |
T |
1: 96,770,232 (GRCm39) |
Y277* |
probably null |
Het |
Smarca4 |
C |
T |
9: 21,547,132 (GRCm39) |
T219I |
probably benign |
Het |
Sphkap |
A |
T |
1: 83,258,224 (GRCm39) |
I173N |
probably damaging |
Het |
Spred3 |
C |
T |
7: 28,860,997 (GRCm39) |
C394Y |
unknown |
Het |
Stra6l |
A |
G |
4: 45,873,689 (GRCm39) |
D283G |
probably benign |
Het |
Tipin |
A |
T |
9: 64,195,406 (GRCm39) |
Q4L |
probably benign |
Het |
Tmprss11c |
T |
A |
5: 86,379,730 (GRCm39) |
I380F |
probably benign |
Het |
Ugt2b34 |
T |
A |
5: 87,054,544 (GRCm39) |
Y79F |
probably benign |
Het |
Vmn2r16 |
T |
A |
5: 109,511,580 (GRCm39) |
S596T |
possibly damaging |
Het |
Wdhd1 |
A |
G |
14: 47,481,346 (GRCm39) |
S1024P |
possibly 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 |
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 |
2016-08-02 |