Incidental Mutation 'IGL02082:Tk1'
ID 283408
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tk1
Ensembl Gene ENSMUSG00000025574
Gene Name thymidine kinase 1
Synonyms D530002A18Rik, Tk-1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02082
Quality Score
Status
Chromosome 11
Chromosomal Location 117706352-117716918 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 117716553 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119310 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026661] [ENSMUST00000073388] [ENSMUST00000132298] [ENSMUST00000149668]
AlphaFold P04184
Predicted Effect possibly damaging
Transcript: ENSMUST00000026661
AA Change: R18L

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000026661
Gene: ENSMUSG00000025574
AA Change: R18L

DomainStartEndE-ValueType
Pfam:TK 19 189 9.8e-73 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000073388
SMART Domains Protein: ENSMUSP00000073102
Gene: ENSMUSG00000017718

DomainStartEndE-ValueType
Pfam:COesterase 34 139 1.1e-6 PFAM
Pfam:Abhydrolase_5 88 280 4.1e-12 PFAM
Pfam:Abhydrolase_3 89 283 7.8e-19 PFAM
Pfam:Peptidase_S9 106 296 1e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129852
Predicted Effect probably benign
Transcript: ENSMUST00000132298
SMART Domains Protein: ENSMUSP00000135368
Gene: ENSMUSG00000093485

DomainStartEndE-ValueType
low complexity region 4 13 N/A INTRINSIC
low complexity region 34 43 N/A INTRINSIC
low complexity region 90 102 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000149668
SMART Domains Protein: ENSMUSP00000119310
Gene: ENSMUSG00000017718

DomainStartEndE-ValueType
Pfam:Abhydrolase_5 80 272 9.1e-12 PFAM
Pfam:Abhydrolase_3 81 273 1.7e-17 PFAM
Pfam:Peptidase_S9 101 287 2.7e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150027
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153298
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154790
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153850
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cytosolic enzyme that catalyzes the addition of a gamma-phosphate group to thymidine. This creates dTMP and is the first step in the biosynthesis of dTTP, which is one component required for DNA replication. The encoded protein, whose levels fluctuate depending on the cell cycle stage, can act as a low activity dimer or a high activity tetramer. High levels of this protein have been used as a biomarker for diagnosing and categorizing many types of cancers. [provided by RefSeq, Oct 2016]
PHENOTYPE: Nullizygous mice show partial postnatal lethality, poor fertility, hemosiderosis, lymphocyte and spleen anomalies, altered sublingual gland secretion, inflammation of the arteries, lung, liver and thyroid, abnormal spermatogenesis and glomerulosclerosis leading to kidney failure and premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp9b A C 18: 80,935,145 (GRCm39) probably benign Het
Brinp3 T C 1: 146,627,600 (GRCm39) C278R probably damaging Het
Cfap54 T C 10: 92,917,320 (GRCm39) S47G unknown Het
Clec16a T C 16: 10,432,432 (GRCm39) L484P probably damaging Het
Cnksr1 C A 4: 133,963,363 (GRCm39) G71C probably damaging Het
Dnah12 A T 14: 26,428,317 (GRCm39) N246I possibly damaging Het
Fbh1 T C 2: 11,768,938 (GRCm39) D285G probably benign Het
Focad C T 4: 88,148,815 (GRCm39) Q511* probably null Het
Gpr63 A G 4: 25,008,564 (GRCm39) probably benign Het
Iah1 C A 12: 21,367,405 (GRCm39) S37* probably null Het
Inpp4a T A 1: 37,405,708 (GRCm39) probably benign Het
Mcm2 A T 6: 88,865,218 (GRCm39) Y486* probably null Het
Mtmr10 A G 7: 63,983,238 (GRCm39) probably benign Het
Nbea A G 3: 55,875,588 (GRCm39) L1694S possibly damaging Het
Pafah1b1 A G 11: 74,590,159 (GRCm39) S4P probably benign Het
Rnase10 A T 14: 51,246,856 (GRCm39) E41V probably damaging Het
Slc17a6 G T 7: 51,318,777 (GRCm39) R473L probably benign Het
Spata31g1 A G 4: 42,970,198 (GRCm39) T2A probably benign Het
Tbc1d9b A G 11: 50,054,709 (GRCm39) D951G probably benign Het
Trim46 C A 3: 89,146,307 (GRCm39) A395S probably benign Het
Vmn1r113 C T 7: 20,521,672 (GRCm39) H155Y probably benign Het
Vmn1r222 A G 13: 23,416,499 (GRCm39) M238T probably damaging Het
Vmn2r72 A T 7: 85,387,374 (GRCm39) V730E probably benign Het
Other mutations in Tk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02088:Tk1 APN 11 117,715,491 (GRCm39) unclassified probably benign
blowout UTSW 11 117,706,779 (GRCm39) makesense probably null
sale UTSW 11 117,716,603 (GRCm39) start codon destroyed probably null 0.01
tica UTSW 11 117,707,948 (GRCm39) unclassified probably benign
tico UTSW 11 117,707,367 (GRCm39) missense probably damaging 1.00
tock UTSW 11 117,707,320 (GRCm39) missense probably damaging 1.00
twix UTSW 11 117,712,921 (GRCm39) critical splice donor site probably null
R0310:Tk1 UTSW 11 117,707,921 (GRCm39) unclassified probably benign
R0811:Tk1 UTSW 11 117,712,933 (GRCm39) missense probably damaging 1.00
R0812:Tk1 UTSW 11 117,712,933 (GRCm39) missense probably damaging 1.00
R1180:Tk1 UTSW 11 117,712,921 (GRCm39) critical splice donor site probably null
R5160:Tk1 UTSW 11 117,715,572 (GRCm39) missense possibly damaging 0.78
R5287:Tk1 UTSW 11 117,707,367 (GRCm39) missense probably damaging 1.00
R5846:Tk1 UTSW 11 117,706,748 (GRCm39) unclassified probably benign
R5886:Tk1 UTSW 11 117,707,948 (GRCm39) unclassified probably benign
R6862:Tk1 UTSW 11 117,707,320 (GRCm39) missense probably damaging 1.00
R7043:Tk1 UTSW 11 117,706,779 (GRCm39) makesense probably null
R7292:Tk1 UTSW 11 117,716,603 (GRCm39) start codon destroyed probably null 0.01
R9262:Tk1 UTSW 11 117,716,581 (GRCm39) missense probably benign 0.16
Posted On 2015-04-16