Incidental Mutation 'R5886:Tk1'
ID 456109
Institutional Source Beutler Lab
Gene Symbol Tk1
Ensembl Gene ENSMUSG00000025574
Gene Name thymidine kinase 1
Synonyms D530002A18Rik, Tk-1
MMRRC Submission 044088-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5886 (G1)
Quality Score 186
Status Validated
Chromosome 11
Chromosomal Location 117706352-117716918 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) CC to GA at 117707948 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026649] [ENSMUST00000026661] [ENSMUST00000120928] [ENSMUST00000132298] [ENSMUST00000143852] [ENSMUST00000177131] [ENSMUST00000177241]
AlphaFold P04184
Predicted Effect probably benign
Transcript: ENSMUST00000026649
SMART Domains Protein: ENSMUSP00000026649
Gene: ENSMUSG00000048277

DomainStartEndE-ValueType
low complexity region 4 13 N/A INTRINSIC
Pfam:MARVEL 20 165 1.1e-24 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000026661
AA Change: D125H
SMART Domains Protein: ENSMUSP00000026661
Gene: ENSMUSG00000025574
AA Change: D125H

DomainStartEndE-ValueType
Pfam:TK 19 189 9.8e-73 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120928
SMART Domains Protein: ENSMUSP00000113941
Gene: ENSMUSG00000048277

DomainStartEndE-ValueType
low complexity region 4 13 N/A INTRINSIC
Pfam:MARVEL 21 135 1.4e-18 PFAM
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 noncoding transcript
Transcript: ENSMUST00000141939
Predicted Effect probably benign
Transcript: ENSMUST00000143852
SMART Domains Protein: ENSMUSP00000135529
Gene: ENSMUSG00000048277

DomainStartEndE-ValueType
Pfam:MARVEL 14 118 8e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153872
Predicted Effect probably benign
Transcript: ENSMUST00000177131
SMART Domains Protein: ENSMUSP00000134789
Gene: ENSMUSG00000048277

DomainStartEndE-ValueType
low complexity region 4 13 N/A INTRINSIC
Pfam:MARVEL 20 162 3.6e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176936
Predicted Effect probably benign
Transcript: ENSMUST00000177241
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153298
Predicted Effect probably benign
Transcript: ENSMUST00000175737
SMART Domains Protein: ENSMUSP00000134879
Gene: ENSMUSG00000048277

DomainStartEndE-ValueType
low complexity region 1 11 N/A INTRINSIC
Pfam:MARVEL 18 121 1.4e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154790
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.2%
  • 20x: 91.0%
Validation Efficiency 96% (78/81)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 A G 11: 69,775,162 (GRCm39) V367A probably benign Het
Adam26b T C 8: 43,973,310 (GRCm39) E564G possibly damaging Het
Akap1 A G 11: 88,725,486 (GRCm39) probably null Het
Akap5 T A 12: 76,374,619 (GRCm39) V10E possibly damaging Het
Atad2 A T 15: 57,961,910 (GRCm39) L887* probably null Het
Brd10 T C 19: 29,696,677 (GRCm39) I939V probably benign Het
C1qbp A G 11: 70,873,008 (GRCm39) V122A probably benign Het
C1qtnf7 G A 5: 43,772,998 (GRCm39) G92D probably damaging Het
Cacna1a T C 8: 85,249,651 (GRCm39) I219T probably damaging Het
Capn12 A G 7: 28,587,030 (GRCm39) N333S probably benign Het
Ccdc154 C T 17: 25,390,792 (GRCm39) T644I probably benign Het
Cd200r1 T C 16: 44,610,566 (GRCm39) S225P possibly damaging Het
Cntnap5a T C 1: 116,499,402 (GRCm39) probably null Het
Coq4 A T 2: 29,680,626 (GRCm39) probably benign Het
Cubn A T 2: 13,324,834 (GRCm39) probably benign Het
Cyp4f17 A T 17: 32,743,013 (GRCm39) S229C possibly damaging Het
Cysltr2 T C 14: 73,266,931 (GRCm39) K260E probably benign Het
D930007J09Rik C A 13: 32,986,819 (GRCm39) A200E probably benign Het
Dnah8 C T 17: 31,013,691 (GRCm39) P3811S probably damaging Het
Duoxa1 A T 2: 122,134,291 (GRCm39) S276T possibly damaging Het
Efcab15 A G 11: 103,098,947 (GRCm39) probably null Het
Efhb T C 17: 53,758,582 (GRCm39) I351M probably benign Het
Fat1 G A 8: 45,480,718 (GRCm39) probably null Het
Fat1 A T 8: 45,486,432 (GRCm39) T3329S probably damaging Het
Gad1-ps G A 10: 99,281,009 (GRCm39) noncoding transcript Het
Gm973 T A 1: 59,597,409 (GRCm39) probably benign Het
Gpr156 T A 16: 37,799,375 (GRCm39) L124Q probably damaging Het
Hars2 T A 18: 36,923,150 (GRCm39) probably benign Het
Hcrt G A 11: 100,652,759 (GRCm39) A85V probably damaging Het
Hivep1 A G 13: 42,310,088 (GRCm39) D776G probably damaging Het
Hmgcr A T 13: 96,796,691 (GRCm39) S200T probably damaging Het
Krt40 C T 11: 99,430,907 (GRCm39) A201T probably benign Het
Lca5 G A 9: 83,281,734 (GRCm39) A350V probably benign Het
Lrig2 T A 3: 104,370,014 (GRCm39) M515L probably benign Het
Mbd5 A G 2: 49,162,464 (GRCm39) D90G probably damaging Het
Mfsd4a C T 1: 131,995,465 (GRCm39) V56I probably damaging Het
Mpi A G 9: 57,455,745 (GRCm39) probably benign Het
Mroh4 G T 15: 74,478,296 (GRCm39) D935E possibly damaging Het
Mtg1 G T 7: 139,729,778 (GRCm39) probably null Het
Nanos1 T A 19: 60,745,268 (GRCm39) C189S probably damaging Het
Naprt A C 15: 75,763,324 (GRCm39) probably null Het
Nubpl T A 12: 52,228,092 (GRCm39) probably null Het
Or10ad1b T C 15: 98,124,672 (GRCm39) T285A possibly damaging Het
Or10d4 G T 9: 39,581,252 (GRCm39) V300L probably benign Het
Or8g23 T A 9: 38,971,678 (GRCm39) T95S probably benign Het
Or9g20 A G 2: 85,630,147 (GRCm39) S156P probably damaging Het
Otud4 T A 8: 80,399,436 (GRCm39) Y717N probably damaging Het
Pakap T A 4: 57,856,295 (GRCm39) D582E probably damaging Het
Pnpla1 T C 17: 29,095,837 (GRCm39) F86S possibly damaging Het
Prlhr C T 19: 60,456,014 (GRCm39) W184* probably null Het
Rtp3 A G 9: 110,816,204 (GRCm39) S116P probably damaging Het
Sema3c T C 5: 17,886,984 (GRCm39) I345T possibly damaging Het
Skor2 T C 18: 76,947,124 (GRCm39) L282P unknown Het
Slc24a4 T C 12: 102,226,674 (GRCm39) V468A probably damaging Het
Slfn8 C T 11: 82,894,160 (GRCm39) M826I probably benign Het
Tacc2 A G 7: 130,330,850 (GRCm39) D378G probably benign Het
Thbs3 C A 3: 89,127,470 (GRCm39) D370E probably damaging Het
Tm7sf2 A G 19: 6,116,572 (GRCm39) probably benign Het
Trappc8 T C 18: 21,007,737 (GRCm39) Y126C probably damaging Het
Trim35 C G 14: 66,541,502 (GRCm39) L209V possibly damaging Het
Trim35 T C 14: 66,541,503 (GRCm39) L209P probably damaging Het
Trip12 C T 1: 84,708,179 (GRCm39) probably benign Het
Trp53bp1 A G 2: 121,035,502 (GRCm39) V1583A probably damaging Het
Tuba5-ps A G 1: 134,447,937 (GRCm39) noncoding transcript Het
Tubgcp6 A T 15: 88,987,450 (GRCm39) N1166K possibly damaging Het
Usp54 C T 14: 20,611,910 (GRCm39) D969N probably benign Het
Vldlr C A 19: 27,221,171 (GRCm39) S612R probably benign Het
Vps13a T C 19: 16,641,926 (GRCm39) T2234A probably benign Het
Vps39 A G 2: 120,152,053 (GRCm39) probably benign Het
Zdhhc3 A T 9: 122,920,146 (GRCm39) C120S probably benign Het
Zfp37 A G 4: 62,109,471 (GRCm39) F531S probably damaging Het
Other mutations in Tk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02082:Tk1 APN 11 117,716,553 (GRCm39) splice site probably null
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
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
Predicted Primers PCR Primer
(F):5'- CAGGCTACATCATACTTTACTGATC -3'
(R):5'- TTAACAGGACTGGCGGTGTG -3'

Sequencing Primer
(F):5'- ACTGATCCTGCTTTCTTGAGAG -3'
(R):5'- TGGTCTGGTCTCCGGCTC -3'
Posted On 2017-02-15