Mutagenetix > Incidental Mutation

Incidental Mutation 'R6085:Tymp'

482448

Institutional Source

Beutler Lab

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) question?

Stock #

R6085 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

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: 98.1%
20x: 94.5%

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Boc	G	T	16: 44,308,970 (GRCm39)	D847E	probably damaging	Het
Bora	A	T	14: 99,299,730 (GRCm39)	Q234L	possibly damaging	Het
Cdk12	T	C	11: 98,134,255 (GRCm39)	I1051T	unknown	Het
Ciita	A	G	16: 10,330,029 (GRCm39)	E771G	probably benign	Het
Cul2	T	C	18: 3,431,508 (GRCm39)	F638L	probably benign	Het
Ddx21	A	G	10: 62,429,866 (GRCm39)	Y293H	probably damaging	Het
Dhx8	C	T	11: 101,655,139 (GRCm39)	R1050W	probably damaging	Het
Etv1	G	A	12: 38,904,194 (GRCm39)	D285N	probably damaging	Het
Hs3st3a1	G	A	11: 64,327,004 (GRCm39)	V38I	possibly damaging	Het
Ifit1bl2	A	C	19: 34,597,217 (GRCm39)	F133C	possibly damaging	Het
Lama3	C	T	18: 12,615,156 (GRCm39)	T1360I	probably benign	Het
Mgrn1	A	G	16: 4,738,240 (GRCm39)	T265A	probably benign	Het
Nup155	T	C	15: 8,177,842 (GRCm39)	V1075A	probably damaging	Het
Or1ad6	A	G	11: 50,859,950 (GRCm39)	Y35C		Het
Pld4	A	G	12: 112,733,320 (GRCm39)	T299A	probably benign	Het
Prr5	T	A	15: 84,572,106 (GRCm39)	I38N	probably damaging	Het
Slc25a47	A	G	12: 108,820,254 (GRCm39)	Y86C	probably benign	Het
Spata31e5	T	C	1: 28,817,308 (GRCm39)	I241M	possibly damaging	Het
Synrg	A	T	11: 83,930,487 (GRCm39)	E1276D	possibly damaging	Het
Taar7e	T	C	10: 23,913,761 (GRCm39)	F84L	probably benign	Het
Tssk1	G	A	16: 17,712,848 (GRCm39)	C211Y	possibly damaging	Het
Xpo7	A	T	14: 70,934,051 (GRCm39)	S236T	probably benign	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
R6082:Tymp	UTSW	15	89,258,567 (GRCm39)	frame shift	probably null
R6083: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'- CTCAGAAGCTGCAGGGATTG -3'
(R):5'- CAATCAAAGCTGTCCTGACTG -3'

Sequencing Primer
(F):5'- ATTGAGAGCTCCTGGCATAC -3'
(R):5'- ACTGCGGACCTGGGGAAATC -3'

Posted On

2017-07-14