Incidental Mutation 'R6909:Tk2'
ID 538928
Institutional Source Beutler Lab
Gene Symbol Tk2
Ensembl Gene ENSMUSG00000035824
Gene Name thymidine kinase 2, mitochondrial
Synonyms
MMRRC Submission 045001-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.755) question?
Stock # R6909 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 104953317-104975190 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 104963442 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 142 (Y142*)
Ref Sequence ENSEMBL: ENSMUSP00000148642 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050211] [ENSMUST00000211995] [ENSMUST00000212209] [ENSMUST00000212275] [ENSMUST00000212854]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000050211
AA Change: Y142*
SMART Domains Protein: ENSMUSP00000053616
Gene: ENSMUSG00000035824
AA Change: Y142*

DomainStartEndE-ValueType
low complexity region 2 35 N/A INTRINSIC
Pfam:dNK 58 267 1.2e-67 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000211995
Predicted Effect probably benign
Transcript: ENSMUST00000212209
Predicted Effect probably null
Transcript: ENSMUST00000212275
AA Change: Y142*
Predicted Effect probably benign
Transcript: ENSMUST00000212854
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 97.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a deoxyribonucleoside kinase that specifically phosphorylates thymidine, deoxycytidine, and deoxyuridine. The encoded enzyme localizes to the mitochondria and is required for mitochondrial DNA synthesis. Mutations in this gene are associated with a myopathic form of mitochondrial DNA depletion syndrome. Alternate splicing results in multiple transcript variants encoding distinct isoforms, some of which lack transit peptide, so are not localized to mitochondria. [provided by RefSeq, Dec 2012]
PHENOTYPE: Knock-out mice die at 2-4 wks of age showing stunted growth, hypothermia, progressive mtDNA loss, aberrant myocardial fibers and altered adipose tissue structure. Knock-in mutant mice show encephalomyelopathy, impaired gait, mtDNA loss, altered mt dNTP pools and respiratory chain enzyme activities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 G T 11: 110,006,323 (GRCm39) Q1261K probably benign Het
Acp3 T C 9: 104,178,164 (GRCm39) Y329C probably damaging Het
Agrn G T 4: 156,261,464 (GRCm39) H585N possibly damaging Het
Ano1 G A 7: 144,209,468 (GRCm39) T211M probably damaging Het
Atic T G 1: 71,616,005 (GRCm39) probably null Het
Catsperd T A 17: 56,957,781 (GRCm39) S229R probably damaging Het
Ccdc168 C T 1: 44,098,935 (GRCm39) R721Q possibly damaging Het
Cfap210 A T 2: 69,612,192 (GRCm39) probably null Het
Cfap251 A G 5: 123,425,815 (GRCm39) Y418C probably damaging Het
Cibar1 T C 4: 12,168,309 (GRCm39) T97A probably benign Het
Cmya5 T C 13: 93,227,760 (GRCm39) T2443A probably benign Het
Dysf A T 6: 84,169,920 (GRCm39) E1772V probably damaging Het
Eps8l1 T A 7: 4,472,899 (GRCm39) L107* probably null Het
Fpr3 T A 17: 18,191,429 (GRCm39) F233L probably benign Het
Gjc2 A T 11: 59,067,918 (GRCm39) V188E unknown Het
Gm45861 T A 8: 28,017,109 (GRCm39) Y690N unknown Het
Gsdma2 T A 11: 98,543,383 (GRCm39) C224* probably null Het
Gucy2d T A 7: 98,116,832 (GRCm39) Y881N probably damaging Het
Hcn3 A G 3: 89,059,936 (GRCm39) probably null Het
Hectd1 G T 12: 51,810,945 (GRCm39) probably null Het
Ifitm5 A G 7: 140,529,172 (GRCm39) F146L probably benign Het
Impg2 T C 16: 56,024,947 (GRCm39) F18S probably damaging Het
Ino80c T A 18: 24,241,812 (GRCm39) probably benign Het
Itga10 A G 3: 96,569,915 (GRCm39) H1109R probably benign Het
Kdm3b T A 18: 34,960,381 (GRCm39) probably null Het
Klra8 T G 6: 130,102,123 (GRCm39) N104T probably benign Het
Llgl2 G A 11: 115,741,625 (GRCm39) C585Y probably damaging Het
Lmod2 T A 6: 24,604,157 (GRCm39) D377E probably benign Het
Lrat G A 3: 82,810,961 (GRCm39) S20F probably damaging Het
Lrrc43 T A 5: 123,638,482 (GRCm39) H363Q probably benign Het
Lyst T G 13: 13,917,960 (GRCm39) I3340S probably damaging Het
Magi1 C A 6: 93,674,301 (GRCm39) G948W probably damaging Het
Map3k4 A C 17: 12,489,872 (GRCm39) F520V probably damaging Het
Mcm4 A T 16: 15,446,561 (GRCm39) N607K probably damaging Het
Mta3 T C 17: 84,073,980 (GRCm39) V216A possibly damaging Het
Ncor1 C A 11: 62,220,312 (GRCm39) G2131V probably damaging Het
Or10ag2 A G 2: 87,248,959 (GRCm39) H189R probably damaging Het
Or2z9 T A 8: 72,854,372 (GRCm39) V256E possibly damaging Het
Or5d16 A G 2: 87,773,034 (GRCm39) S313P probably benign Het
Or9k7 T A 10: 130,046,622 (GRCm39) I126L probably benign Het
Pramel12 T C 4: 143,144,479 (GRCm39) L275P probably damaging Het
Ptpn2 A T 18: 67,809,041 (GRCm39) probably null Het
Scn10a A G 9: 119,438,856 (GRCm39) I1671T probably damaging Het
Scyl2 A T 10: 89,481,604 (GRCm39) S622T probably benign Het
Sim1 C T 10: 50,785,506 (GRCm39) R192C possibly damaging Het
Skor2 A G 18: 76,948,252 (GRCm39) H658R possibly damaging Het
Slc10a5 A G 3: 10,400,655 (GRCm39) S2P possibly damaging Het
Slc37a4 A T 9: 44,311,331 (GRCm39) K207N possibly damaging Het
Syne2 G T 12: 76,110,969 (GRCm39) V5768L probably benign Het
Tdpoz3 T A 3: 93,733,772 (GRCm39) V149E probably damaging Het
Tekt5 T C 16: 10,176,165 (GRCm39) N460S probably damaging Het
Tkfc T A 19: 10,573,630 (GRCm39) Q236L probably benign Het
Tln2 G A 9: 67,299,814 (GRCm39) T148I probably damaging Het
Trim62 A G 4: 128,778,021 (GRCm39) D20G probably damaging Het
Tspan14 A C 14: 40,635,398 (GRCm39) V166G probably benign Het
Ttn A T 2: 76,712,065 (GRCm39) probably benign Het
Vmn1r217 T A 13: 23,298,108 (GRCm39) M265L probably benign Het
Vmn2r117 C G 17: 23,698,479 (GRCm39) Q31H possibly damaging Het
Zfp87 T C 13: 74,519,861 (GRCm39) T406A possibly damaging Het
Other mutations in Tk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02447:Tk2 APN 8 104,967,770 (GRCm39) missense probably damaging 1.00
IGL02525:Tk2 APN 8 104,970,032 (GRCm39) missense probably benign 0.02
IGL03211:Tk2 APN 8 104,970,073 (GRCm39) missense probably damaging 1.00
R0333:Tk2 UTSW 8 104,975,146 (GRCm39) unclassified probably benign
R0691:Tk2 UTSW 8 104,957,824 (GRCm39) missense probably benign 0.16
R1851:Tk2 UTSW 8 104,975,077 (GRCm39) nonsense probably null
R3508:Tk2 UTSW 8 104,957,825 (GRCm39) missense probably benign 0.00
R3605:Tk2 UTSW 8 104,957,803 (GRCm39) missense possibly damaging 0.95
R4161:Tk2 UTSW 8 104,965,465 (GRCm39) missense probably benign 0.00
R5328:Tk2 UTSW 8 104,955,931 (GRCm39) splice site probably null
R5546:Tk2 UTSW 8 104,974,315 (GRCm39) missense possibly damaging 0.51
R8098:Tk2 UTSW 8 104,957,804 (GRCm39) missense probably benign 0.05
R8354:Tk2 UTSW 8 104,967,746 (GRCm39) critical splice donor site probably null
R8357:Tk2 UTSW 8 104,963,450 (GRCm39) missense probably damaging 1.00
R8454:Tk2 UTSW 8 104,967,746 (GRCm39) critical splice donor site probably null
R8457:Tk2 UTSW 8 104,963,450 (GRCm39) missense probably damaging 1.00
R8978:Tk2 UTSW 8 104,957,809 (GRCm39) missense possibly damaging 0.78
Predicted Primers PCR Primer
(F):5'- TCTACGCACCCACACCTATG -3'
(R):5'- ACACAGTGAGTCTCATGGCA -3'

Sequencing Primer
(F):5'- GCACCCACACCTATGCACTC -3'
(R):5'- CACAGTGAGTCTCATGGCAGATTTG -3'
Posted On 2018-11-06