Incidental Mutation 'R7019:Tymp'
ID 568440
Institutional Source Beutler Lab
Gene Symbol Tymp
Ensembl Gene ENSMUSG00000022615
Gene Name thymidine phosphorylase
Synonyms PDECGF, Ecgf1, gliostatin, Pdgfec, 2900072D10Rik, PD-ECGF
MMRRC Submission 045120-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7019 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 89256134-89261242 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 89260484 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] [ENSMUST00000227834] [ENSMUST00000228111] [ENSMUST00000228977]
AlphaFold Q99N42
Predicted Effect probably null
Transcript: ENSMUST00000023285
SMART Domains Protein: ENSMUSP00000023285
Gene: ENSMUSG00000022615

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:DUF1032 20 576 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000049968
SMART Domains Protein: ENSMUSP00000053112
Gene: ENSMUSG00000047394

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:DUF1032 51 607 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000088717
SMART Domains Protein: ENSMUSP00000086095
Gene: ENSMUSG00000008690

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:SCO1-SenC 52 234 1.4e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000227834
Predicted Effect probably benign
Transcript: ENSMUST00000228111
Predicted Effect probably benign
Transcript: ENSMUST00000228977
Meta Mutation Damage Score 0.9756 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (61/61)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat A T 16: 8,436,395 (GRCm39) K414* probably null Het
Aco1 T A 4: 40,186,376 (GRCm39) I596N probably damaging Het
Adgre1 A C 17: 57,717,945 (GRCm39) D319A probably damaging Het
Birc6 T C 17: 74,916,340 (GRCm39) V445A probably benign Het
Btd A C 14: 31,389,062 (GRCm39) Q261P probably damaging Het
Btd G T 14: 31,389,063 (GRCm39) Q261H possibly damaging Het
C7 T A 15: 5,075,164 (GRCm39) Y176F probably benign Het
Ccdc102a T C 8: 95,636,431 (GRCm39) S287G probably benign Het
Ccdc178 T A 18: 22,283,495 (GRCm39) T12S probably benign Het
Cnga4 G T 7: 105,055,036 (GRCm39) A104S probably benign Het
Col10a1 G T 10: 34,270,947 (GRCm39) L306F probably damaging Het
Cpne5 T C 17: 29,445,196 (GRCm39) D36G probably damaging Het
Csmd2 G A 4: 128,262,856 (GRCm39) D681N Het
Cspg4b C T 13: 113,488,284 (GRCm39) T102I probably benign Het
Cstl1 A G 2: 148,597,223 (GRCm39) M75V probably benign Het
Cyp26a1 T C 19: 37,687,260 (GRCm39) L149P probably damaging Het
D630045J12Rik T G 6: 38,171,570 (GRCm39) E866A probably benign Het
Dlec1 C T 9: 118,941,490 (GRCm39) P292L probably benign Het
Dpp3 T G 19: 4,966,817 (GRCm39) E402A possibly damaging Het
Egf T C 3: 129,511,713 (GRCm39) probably null Het
Epha5 T C 5: 84,564,321 (GRCm39) Q15R possibly damaging Het
Esyt3 A G 9: 99,197,338 (GRCm39) F831L probably benign Het
Fam50b G A 13: 34,931,084 (GRCm39) E187K possibly damaging Het
Fut7 A G 2: 25,315,792 (GRCm39) D350G probably benign Het
Gab1 C A 8: 81,511,446 (GRCm39) E466D probably damaging Het
Glrp1 A T 1: 88,430,890 (GRCm39) M160K unknown Het
Gngt1 T C 6: 3,994,088 (GRCm39) probably null Het
Gprc6a A T 10: 51,507,508 (GRCm39) V7E possibly damaging Het
Idh3b A T 2: 130,122,886 (GRCm39) V301D probably damaging Het
Ifi202b A C 1: 173,791,524 (GRCm39) C385G probably benign Het
Ilvbl T A 10: 78,414,920 (GRCm39) L261Q probably damaging Het
Irx6 T A 8: 93,405,362 (GRCm39) L410Q probably damaging Het
Ism2 T C 12: 87,346,437 (GRCm39) M15V unknown Het
Itih5 C A 2: 10,195,138 (GRCm39) R177S probably damaging Het
Klra3 C T 6: 130,304,087 (GRCm39) G202R probably damaging Het
Krt7 T C 15: 101,311,851 (GRCm39) V103A probably damaging Het
Lama3 T C 18: 12,661,475 (GRCm39) S2145P probably damaging Het
Mlph A G 1: 90,869,428 (GRCm39) R477G probably damaging Het
Mybpc1 T A 10: 88,379,581 (GRCm39) L653F probably damaging Het
Myrfl A G 10: 116,617,852 (GRCm39) probably null Het
Myrip T G 9: 120,251,573 (GRCm39) L232R probably damaging Het
Nrdc A T 4: 108,885,999 (GRCm39) H126L probably benign Het
Or4n5 A T 14: 50,133,124 (GRCm39) I45N probably damaging Het
Or5p50 G T 7: 107,422,365 (GRCm39) L104I probably benign Het
Or8c11 T A 9: 38,290,098 (GRCm39) L307Q possibly damaging Het
Pcdhb10 T A 18: 37,546,056 (GRCm39) N377K probably damaging Het
Pigt CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT 2: 164,341,589 (GRCm39) probably null Het
Prkdc A C 16: 15,587,830 (GRCm39) I2572L probably benign Het
Ptpro C A 6: 137,357,476 (GRCm39) D322E probably benign Het
R3hcc1 A G 14: 69,941,574 (GRCm39) I332T probably damaging Het
Rab8a T C 8: 72,915,227 (GRCm39) F9L probably damaging Het
Ranbp3l A T 15: 9,057,241 (GRCm39) K165N probably damaging Het
Rock2 T A 12: 17,027,741 (GRCm39) C1353S probably damaging Het
Rsad2 T A 12: 26,506,418 (GRCm39) M1L possibly damaging Het
Vmn1r104 A G 7: 20,268,491 (GRCm39) M244V probably benign Het
Vmn1r232 G A 17: 21,133,547 (GRCm39) T351M possibly damaging Het
Vmn2r50 A G 7: 9,784,172 (GRCm39) Y101H probably benign Het
Vmn2r57 A G 7: 41,078,089 (GRCm39) L123P probably damaging Het
Wdr17 T C 8: 55,134,488 (GRCm39) N331D probably damaging Het
Wdr47 C T 3: 108,521,671 (GRCm39) Q89* probably null Het
Zcchc4 A T 5: 52,941,375 (GRCm39) T57S probably benign Het
Other mutations in Tymp
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Z1177:Tymp UTSW 15 89,259,767 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTTAAAGGGTCCTCTTGGGTAC -3'
(R):5'- CGTGAACACCTCGCTCATTG -3'

Sequencing Primer
(F):5'- TCCTCTTGGGTACAGAGGCAAC -3'
(R):5'- GTATCCATACTTAGGGGCCATGC -3'
Posted On 2019-07-24