Mutagenetix > Incidental Mutation

Incidental Mutation 'R5960:Tymp'

471434

Institutional Source

Beutler Lab

Gene Symbol

Tymp

Ensembl Gene

ENSMUSG00000022615

Gene Name

thymidine phosphorylase

Synonyms

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

MMRRC Submission

044147-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5960 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89256134-89261242 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 89260778 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] [ENSMUST00000145259] [ENSMUST00000167643] [ENSMUST00000228111] [ENSMUST00000228977] [ENSMUST00000227834]

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

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

Predicted Effect

probably benign
Transcript: ENSMUST00000228111

Predicted Effect

probably benign
Transcript: ENSMUST00000228977

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227203

Predicted Effect

probably benign
Transcript: ENSMUST00000227834

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227854

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226267

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228005

Meta Mutation Damage Score

0.9498

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 92.9%

Validation Efficiency

99% (71/72)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	T	C	3: 137,889,528 (GRCm39)	T30A	possibly damaging	Het
Adat1	T	C	8: 112,709,233 (GRCm39)	M197V	probably benign	Het
Alcam	T	C	16: 52,115,489 (GRCm39)	T210A	probably benign	Het
Ankfy1	T	A	11: 72,648,178 (GRCm39)	S886R	possibly damaging	Het
Aopep	G	A	13: 63,388,087 (GRCm39)	R22Q	probably damaging	Het
Atg2a	T	G	19: 6,304,390 (GRCm39)	F1136V	probably damaging	Het
Birc6	A	T	17: 74,835,760 (GRCm39)	T72S	probably damaging	Het
Caskin1	A	G	17: 24,717,869 (GRCm39)	T219A	probably benign	Het
Catsperg1	A	G	7: 28,884,208 (GRCm39)		probably benign	Het
Cdh12	A	G	15: 21,492,562 (GRCm39)		probably null	Het
Cfap126	A	G	1: 170,952,882 (GRCm39)	D45G	probably damaging	Het
Ciz1	C	A	2: 32,261,228 (GRCm39)	Q356K	possibly damaging	Het
Ckmt1	T	A	2: 121,194,058 (GRCm39)	I407N	probably damaging	Het
Csmd1	C	T	8: 16,121,430 (GRCm39)	E1756K	possibly damaging	Het
Cwf19l2	A	G	9: 3,411,404 (GRCm39)	K94E	probably benign	Het
Cyth1	A	G	11: 118,023,193 (GRCm39)		probably benign	Het
Ddx25	A	G	9: 35,465,807 (GRCm39)		probably null	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dock3	C	A	9: 106,788,554 (GRCm39)	G138*	probably null	Het
Fam20a	G	A	11: 109,566,795 (GRCm39)		probably benign	Het
Fanci	A	G	7: 79,093,510 (GRCm39)	T1006A	probably damaging	Het
Fat1	T	C	8: 45,486,405 (GRCm39)	Y3320H	probably damaging	Het
Fndc8	A	G	11: 82,788,398 (GRCm39)	D76G	probably benign	Het
Gm19965	T	C	1: 116,749,201 (GRCm39)	I294T	possibly damaging	Het
Gm9755	T	G	8: 67,967,840 (GRCm39)		noncoding transcript	Het
Iars1	T	C	13: 49,878,113 (GRCm39)	V879A	possibly damaging	Het
Ifi209	A	T	1: 173,466,382 (GRCm39)		probably null	Het
Itgb2l	T	C	16: 96,227,459 (GRCm39)	H528R	probably benign	Het
Marf1	T	C	16: 13,970,281 (GRCm39)	Q146R	probably damaging	Het
Megf11	A	G	9: 64,567,731 (GRCm39)	T407A	probably benign	Het
Mtg1	T	C	7: 139,726,906 (GRCm39)		probably benign	Het
Nhsl1	T	G	10: 18,402,724 (GRCm39)	S1317A	probably benign	Het
Nhsl3	A	G	4: 129,115,865 (GRCm39)	V933A	probably damaging	Het
Nudt16	A	T	9: 105,008,698 (GRCm39)	C63S	possibly damaging	Het
Nup107	T	C	10: 117,625,915 (GRCm39)	I49V	probably null	Het
Or51a24	G	T	7: 103,733,560 (GRCm39)	N242K	probably damaging	Het
Or5m13	T	A	2: 85,749,069 (GRCm39)	S267T	probably benign	Het
Orc1	T	C	4: 108,463,495 (GRCm39)	S671P	possibly damaging	Het
Paox	A	G	7: 139,712,402 (GRCm39)	D211G	probably benign	Het
Pck2	A	G	14: 55,786,004 (GRCm39)	T571A	possibly damaging	Het
Pigg	A	G	5: 108,484,160 (GRCm39)	E469G	probably benign	Het
Pikfyve	C	A	1: 65,292,597 (GRCm39)	Y1349*	probably null	Het
Prickle2	A	G	6: 92,353,286 (GRCm39)	F783L	probably benign	Het
Prpf40b	G	T	15: 99,212,785 (GRCm39)	R627L	probably damaging	Het
Rasgrf1	A	G	9: 89,903,437 (GRCm39)	I1217V	possibly damaging	Het
Rbm26	A	T	14: 105,387,751 (GRCm39)	V457D	probably damaging	Het
Rex1bd	C	A	8: 70,959,156 (GRCm39)	R49L	probably null	Het
Robo2	A	T	16: 73,730,603 (GRCm39)	L1003Q	probably damaging	Het
Sacs	A	G	14: 61,446,144 (GRCm39)	D2730G	probably benign	Het
Setd6	T	A	8: 96,442,827 (GRCm39)	L88H	probably damaging	Het
Smim35	T	C	9: 45,154,288 (GRCm39)	Y50H	probably damaging	Het
Sncb	A	G	13: 54,910,795 (GRCm39)		probably benign	Het
Spata31e2	T	A	1: 26,722,225 (GRCm39)	H985L	probably benign	Het
Spmap2	T	G	10: 79,421,765 (GRCm39)	K151T	possibly damaging	Het
Stard9	A	G	2: 120,530,442 (GRCm39)	E2233G	probably benign	Het
Susd2	C	T	10: 75,475,770 (GRCm39)	V410I	probably damaging	Het
Synm	A	G	7: 67,385,494 (GRCm39)	S281P	probably damaging	Het
Syvn1	C	T	19: 6,100,598 (GRCm39)	R330C	probably damaging	Het
Tiam2	A	T	17: 3,488,915 (GRCm39)	D741V	probably benign	Het
Tph1	A	G	7: 46,311,429 (GRCm39)		probably null	Het
Trav7-5	T	A	14: 53,768,706 (GRCm39)	H91Q	probably benign	Het
Usp45	A	C	4: 21,810,797 (GRCm39)	D331A	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
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
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'- TCAGCACAGATGTCTCTTCTAGG -3'
(R):5'- CCAGTGGTGTCTCAATATCCC -3'

Sequencing Primer
(F):5'- GTTCATTCCCTGCAGCCGAATG -3'
(R):5'- TATCCCTTACAGACTGGAGCAATGG -3'

Posted On

2017-03-31