Incidental Mutation 'IGL02590:Tyms'
ID 299702
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tyms
Ensembl Gene ENSMUSG00000025747
Gene Name thymidylate synthase
Synonyms TS
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # IGL02590
Quality Score
Status
Chromosome 5
Chromosomal Location 30263200-30278615 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 30269149 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 75 (V75L)
Ref Sequence ENSEMBL: ENSMUSP00000142970 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026846] [ENSMUST00000141630] [ENSMUST00000146520] [ENSMUST00000196095] [ENSMUST00000198095] [ENSMUST00000196872]
AlphaFold P07607
Predicted Effect probably benign
Transcript: ENSMUST00000026846
AA Change: V158L

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000026846
Gene: ENSMUSG00000025747
AA Change: V158L

DomainStartEndE-ValueType
Pfam:Thymidylat_synt 25 307 2.4e-118 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134298
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138520
Predicted Effect probably benign
Transcript: ENSMUST00000141630
SMART Domains Protein: ENSMUSP00000123377
Gene: ENSMUSG00000025747

DomainStartEndE-ValueType
Pfam:Thymidylat_synt 24 121 1.2e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000146520
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154751
Predicted Effect probably benign
Transcript: ENSMUST00000196095
SMART Domains Protein: ENSMUSP00000143552
Gene: ENSMUSG00000025747

DomainStartEndE-ValueType
Pfam:Thymidylat_synt 25 93 1.5e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000198095
AA Change: V124L

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000143001
Gene: ENSMUSG00000025747
AA Change: V124L

DomainStartEndE-ValueType
Pfam:Thymidylat_synt 24 88 6.6e-20 PFAM
Pfam:Thymidylat_synt 86 139 1.4e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196872
AA Change: V75L

PolyPhen 2 Score 0.324 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000142970
Gene: ENSMUSG00000025747
AA Change: V75L

DomainStartEndE-ValueType
Pfam:Thymidylat_synt 24 65 4.3e-6 PFAM
Pfam:Thymidylat_synt 59 175 6.8e-59 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes an enzyme that catalyzes the methylation of deoxyuridylate to deoxythymidylate using 5,10-methylenetetrahydrofolate as a cofactor. This function maintains the thymidine-5-prime monophosphate concentration critical for DNA replication and repair. The encoded enzyme is a target for cancer chemotherapeutic agents. The majority of transcripts for this gene lack a 3' UTR (PMID: 3022294, 3444407). The stop codon in these transcripts is UAA, compared to the UAG found in the genome and longer transcripts, as the polyA site is located within the stop codon (PMID: 3444407, 2157203). A related pseudogene has been identified on chromosome 10. [provided by RefSeq, Mar 2010]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 A G 4: 144,184,404 (GRCm39) F118S probably damaging Het
Adam5 T G 8: 25,234,151 (GRCm39) probably benign Het
Bok T C 1: 93,614,397 (GRCm39) probably benign Het
C1s1 C T 6: 124,508,235 (GRCm39) V585I possibly damaging Het
Chd2 C T 7: 73,102,948 (GRCm39) V1346I probably benign Het
Cyb5a A T 18: 84,889,732 (GRCm39) T54S probably benign Het
Dnah7b A T 1: 46,162,937 (GRCm39) T428S probably benign Het
Efhc1 T C 1: 21,037,608 (GRCm39) Y262H probably damaging Het
Fyb2 A T 4: 104,836,250 (GRCm39) I404F probably damaging Het
Glra2 T C X: 164,037,222 (GRCm39) N237S probably benign Het
Gypc A G 18: 32,663,060 (GRCm39) *96R probably null Het
Il15 T C 8: 83,069,912 (GRCm39) I51V probably benign Het
Itgb2 T C 10: 77,395,347 (GRCm39) C483R probably damaging Het
Kdr C T 5: 76,096,983 (GRCm39) D1272N probably benign Het
Kif14 C A 1: 136,423,742 (GRCm39) T969K probably benign Het
Klhl42 T C 6: 146,993,810 (GRCm39) S261P probably damaging Het
Lrp1 C A 10: 127,388,660 (GRCm39) G3263V probably damaging Het
Mid1 A G X: 168,710,019 (GRCm39) E5G probably damaging Het
Mmrn2 T A 14: 34,121,224 (GRCm39) L698* probably null Het
Myh14 T G 7: 44,273,503 (GRCm39) Q1393P probably damaging Het
Ncoa7 C T 10: 30,570,159 (GRCm39) E267K probably damaging Het
Obox5 T C 7: 15,491,517 (GRCm39) I19T possibly damaging Het
Or13a20 A G 7: 140,232,305 (GRCm39) probably null Het
Or8k22 A G 2: 86,163,344 (GRCm39) S119P possibly damaging Het
Pcnx1 A G 12: 82,041,752 (GRCm39) Y2128C probably damaging Het
Plcb1 A G 2: 135,136,784 (GRCm39) D293G probably benign Het
Prpf4b T C 13: 35,072,129 (GRCm39) probably benign Het
Psapl1 A T 5: 36,362,397 (GRCm39) T330S probably benign Het
Rap1gap A G 4: 137,447,611 (GRCm39) T453A probably damaging Het
Ric1 T A 19: 29,544,881 (GRCm39) probably benign Het
Robo1 A G 16: 72,840,020 (GRCm39) E1590G probably benign Het
Sorl1 C T 9: 41,957,857 (GRCm39) V596I probably benign Het
Tlr12 A G 4: 128,511,182 (GRCm39) I356T probably benign Het
Trav8d-2 T C 14: 53,279,906 (GRCm39) S8P possibly damaging Het
Vmn1r230 T A 17: 21,067,172 (GRCm39) S120R probably damaging Het
Vmn2r84 T A 10: 130,227,356 (GRCm39) probably benign Het
Wdr27 C T 17: 15,138,041 (GRCm39) A388T possibly damaging Het
Other mutations in Tyms
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02986:Tyms APN 5 30,266,997 (GRCm39) missense probably damaging 1.00
R0225:Tyms UTSW 5 30,268,256 (GRCm39) missense probably damaging 1.00
R1827:Tyms UTSW 5 30,267,014 (GRCm39) splice site probably null
R5862:Tyms UTSW 5 30,268,408 (GRCm39) missense probably damaging 1.00
R5933:Tyms UTSW 5 30,278,357 (GRCm39) critical splice donor site probably null
R6799:Tyms UTSW 5 30,266,069 (GRCm39) missense probably benign
R7615:Tyms UTSW 5 30,278,558 (GRCm39) start gained probably benign
R8769:Tyms UTSW 5 30,278,360 (GRCm39) intron probably benign
R9161:Tyms UTSW 5 30,266,040 (GRCm39) missense
R9569:Tyms UTSW 5 30,268,360 (GRCm39) nonsense probably null
R9593:Tyms UTSW 5 30,269,110 (GRCm39) missense
Posted On 2015-04-16