Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03355:Tymp'

419908

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tymp

Ensembl Gene

ENSMUSG00000022615

Gene Name

thymidine phosphorylase

Synonyms

2900072D10Rik, PD-ECGF, gliostatin, Pdgfec, PDECGF, Ecgf1

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03355

Quality Score

Status

Chromosome

Chromosomal Location

89371931-89377039 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89375016 bp

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] [ENSMUST00000145259] [ENSMUST00000167643] [ENSMUST00000228977] [ENSMUST00000228111] [ENSMUST00000227834]

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: ENSMUST00000140665

Predicted Effect

probably benign
Transcript: ENSMUST00000145259

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147207

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147733

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151523

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: ENSMUST00000226267

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

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610002M06Rik	C	A	X: 107,788,283	V180F	possibly damaging	Het
Actrt1	T	C	X: 46,329,747	V213A	probably benign	Het
Adam28	A	T	14: 68,634,803		probably benign	Het
Apeh	T	C	9: 108,086,445	H557R	probably benign	Het
Atmin	T	A	8: 116,957,425	L608*	probably null	Het
B3gnt5	A	T	16: 19,769,153	M41L	probably benign	Het
Best3	T	C	10: 116,993,105	F97L	possibly damaging	Het
Col7a1	G	A	9: 108,978,160	V2486M	unknown	Het
Crym	T	C	7: 120,199,313		probably null	Het
Cubn	T	C	2: 13,478,057		probably null	Het
Dnah7b	A	G	1: 46,119,304	D349G	probably benign	Het
Eea1	T	C	10: 96,042,212		probably benign	Het
Emc1	C	T	4: 139,371,593		probably benign	Het
Eps8	T	C	6: 137,512,145		probably benign	Het
Ereg	A	G	5: 91,088,581		probably benign	Het
Faah	G	A	4: 116,002,528	P369S	probably benign	Het
Fam135a	A	T	1: 24,029,168	N703K	possibly damaging	Het
Frmpd1	T	C	4: 45,279,140	S622P	probably damaging	Het
Gm10030	A	G	9: 111,006,773		noncoding transcript	Het
Gpr179	A	T	11: 97,337,608	S1240R	possibly damaging	Het
Hax1	A	T	3: 89,997,447	H146Q	possibly damaging	Het
Ift46	A	G	9: 44,782,148	N31D	possibly damaging	Het
Kel	C	T	6: 41,698,887		probably null	Het
Khk	A	T	5: 30,929,560	I108L	probably benign	Het
Morc4	T	C	X: 139,849,682	N375S	probably null	Het
Mta3	A	T	17: 83,800,045		probably benign	Het
Nacc2	T	C	2: 26,062,237	K369R	probably damaging	Het
Nkap	T	C	X: 37,139,670		probably benign	Het
Obscn	A	T	11: 59,037,792	L6016Q	probably damaging	Het
Olfr25	A	T	9: 38,329,656	Q20L	probably benign	Het
Olfr589	T	C	7: 103,155,201	E182G	probably damaging	Het
Pde4c	T	A	8: 70,746,595	L182Q	probably damaging	Het
Pla2g10	G	T	16: 13,730,420		probably null	Het
Rap1gap2	T	A	11: 74,412,344	I426F	probably damaging	Het
Rbm33	C	A	5: 28,391,061		probably benign	Het
Rnf139	C	A	15: 58,900,032	D635E	probably benign	Het
Sar1a	T	C	10: 61,684,939	V15A	possibly damaging	Het
Scarb1	A	C	5: 125,289,702	S56A	probably benign	Het
Scn3a	T	C	2: 65,460,568	K1945E	possibly damaging	Het
Sec62	G	A	3: 30,809,922	G118R	unknown	Het
Sgce	T	A	6: 4,689,738	Q356L	probably damaging	Het
Slco4c1	A	T	1: 96,842,507	Y277*	probably null	Het
Smarca4	C	T	9: 21,635,836	T219I	probably benign	Het
Sphkap	A	T	1: 83,280,503	I173N	probably damaging	Het
Spred3	C	T	7: 29,161,572	C394Y	unknown	Het
Stra6l	A	G	4: 45,873,689	D283G	probably benign	Het
Tipin	A	T	9: 64,288,124	Q4L	probably benign	Het
Tmprss11c	T	A	5: 86,231,871	I380F	probably benign	Het
Ugt2b34	T	A	5: 86,906,685	Y79F	probably benign	Het
Vmn2r16	T	A	5: 109,363,714	S596T	possibly damaging	Het
Wdhd1	A	G	14: 47,243,889	S1024P	possibly damaging	Het

Other mutations in Tymp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01013:Tymp	APN	15	89376310	missense	probably damaging	1.00
PIT4142001:Tymp	UTSW	15	89376345	missense	probably damaging	1.00
R0791:Tymp	UTSW	15	89374818	missense	probably damaging	1.00
R2219:Tymp	UTSW	15	89374762	missense	probably benign
R2266:Tymp	UTSW	15	89373808	missense	probably damaging	1.00
R2267:Tymp	UTSW	15	89373808	missense	probably damaging	1.00
R2268:Tymp	UTSW	15	89373808	missense	probably damaging	1.00
R4714:Tymp	UTSW	15	89376307	missense	probably damaging	1.00
R5247:Tymp	UTSW	15	89374364	frame shift	probably null
R5248:Tymp	UTSW	15	89374364	frame shift	probably null
R5249:Tymp	UTSW	15	89374364	frame shift	probably null
R5741:Tymp	UTSW	15	89376436	missense	probably benign	0.18
R5810:Tymp	UTSW	15	89374331	missense	probably damaging	0.99
R5960:Tymp	UTSW	15	89376575	critical splice donor site	probably null
R6082:Tymp	UTSW	15	89374364	frame shift	probably null
R6083:Tymp	UTSW	15	89374364	frame shift	probably null
R6085:Tymp	UTSW	15	89374364	frame shift	probably null
R6566:Tymp	UTSW	15	89373600	missense	probably benign
R6869:Tymp	UTSW	15	89376691	missense	probably benign
R6969:Tymp	UTSW	15	89374048	missense	probably benign	0.04
R7019:Tymp	UTSW	15	89376281	splice site	probably null
Z1177:Tymp	UTSW	15	89375564	missense	probably damaging	1.00

Posted On

2016-08-02