Incidental Mutation 'IGL03211:Tk2'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tk2
Ensembl Gene ENSMUSG00000035824
Gene Namethymidine kinase 2, mitochondrial
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.712) question?
Stock #IGL03211
Quality Score
Chromosomal Location104226685-104248558 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 104243441 bp
Amino Acid Change Isoleucine to Phenylalanine at position 64 (I64F)
Ref Sequence ENSEMBL: ENSMUSP00000148642 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050211] [ENSMUST00000211995] [ENSMUST00000212209] [ENSMUST00000212275] [ENSMUST00000212854]
Predicted Effect probably damaging
Transcript: ENSMUST00000050211
AA Change: I64F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053616
Gene: ENSMUSG00000035824
AA Change: I64F

low complexity region 2 35 N/A INTRINSIC
Pfam:dNK 58 267 1.2e-67 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000211995
AA Change: I64F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000212209
Predicted Effect probably damaging
Transcript: ENSMUST00000212275
AA Change: I64F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212279
Predicted Effect probably benign
Transcript: ENSMUST00000212854
Coding Region Coverage
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bmp7 C T 2: 172,872,883 V378I possibly damaging Het
Cd209b G T 8: 3,918,830 probably benign Het
Cilp A T 9: 65,280,175 Q1184L probably benign Het
Cysltr2 A T 14: 73,029,715 M185K possibly damaging Het
Dcaf6 A G 1: 165,422,933 F121L possibly damaging Het
Dnajc8 T A 4: 132,544,737 Y95N possibly damaging Het
Ebf3 A G 7: 137,231,304 V214A probably benign Het
Elavl3 A G 9: 22,018,678 V310A probably damaging Het
Emc2 C T 15: 43,507,672 R131* probably null Het
Hcn4 G A 9: 58,858,151 V639M unknown Het
Kif21a T G 15: 90,997,963 D46A possibly damaging Het
Kitl T C 10: 100,080,859 S175P probably benign Het
Klhl32 C T 4: 24,792,616 probably null Het
Plcg1 C T 2: 160,759,691 T972I possibly damaging Het
Prdm13 T C 4: 21,678,492 H666R probably damaging Het
Rap1gap G A 4: 137,715,846 probably null Het
Rdh7 T C 10: 127,887,623 N121S probably benign Het
Ric8b T A 10: 85,001,793 I488N probably damaging Het
Slc38a2 A T 15: 96,698,272 probably null Het
Slc9a9 G A 9: 95,137,990 probably benign Het
Virma G A 4: 11,548,770 W1776* probably null Het
Vrk1 C T 12: 106,036,588 A15V probably benign Het
Wdfy3 T C 5: 101,844,912 probably benign Het
Wfdc10 T C 2: 164,657,252 V94A probably benign Het
Zfp780b A T 7: 27,963,175 C652S possibly damaging Het
Other mutations in Tk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02447:Tk2 APN 8 104241138 missense probably damaging 1.00
IGL02525:Tk2 APN 8 104243400 missense probably benign 0.02
R0333:Tk2 UTSW 8 104248514 unclassified probably benign
R0691:Tk2 UTSW 8 104231192 missense probably benign 0.16
R1851:Tk2 UTSW 8 104248445 nonsense probably null
R3508:Tk2 UTSW 8 104231193 missense probably benign 0.00
R3605:Tk2 UTSW 8 104231171 missense possibly damaging 0.95
R4161:Tk2 UTSW 8 104238833 missense probably benign 0.00
R5328:Tk2 UTSW 8 104229299 splice site probably null
R5546:Tk2 UTSW 8 104247683 missense possibly damaging 0.51
R6909:Tk2 UTSW 8 104236810 nonsense probably null
R8098:Tk2 UTSW 8 104231172 missense probably benign 0.05
R8354:Tk2 UTSW 8 104241114 critical splice donor site probably null
R8357:Tk2 UTSW 8 104236818 missense probably damaging 1.00
R8454:Tk2 UTSW 8 104241114 critical splice donor site probably null
R8457:Tk2 UTSW 8 104236818 missense probably damaging 1.00
Posted On2016-08-02