Incidental Mutation 'IGL02447:Tk2'
ID 294033
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tk2
Ensembl Gene ENSMUSG00000035824
Gene Name thymidine kinase 2, mitochondrial
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.755) question?
Stock # IGL02447
Quality Score
Status
Chromosome 8
Chromosomal Location 104953317-104975190 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 104967770 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 93 (N93I)
Ref Sequence ENSEMBL: ENSMUSP00000148384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050211] [ENSMUST00000211995] [ENSMUST00000212209] [ENSMUST00000212275] [ENSMUST00000212854]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000050211
AA Change: N93I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000053616
Gene: ENSMUSG00000035824
AA Change: N93I

DomainStartEndE-ValueType
low complexity region 2 35 N/A INTRINSIC
Pfam:dNK 58 267 1.2e-67 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000211995
AA Change: N93I

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: N93I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm4 T A 4: 144,401,269 (GRCm39) I72F probably benign Het
Abhd18 T A 3: 40,888,208 (GRCm39) F351I probably benign Het
Agfg1 T A 1: 82,859,944 (GRCm39) probably benign Het
Antxr2 C T 5: 98,178,267 (GRCm39) V48I possibly damaging Het
Bcl9l T C 9: 44,418,631 (GRCm39) M823T probably benign Het
Card11 G A 5: 140,892,679 (GRCm39) H129Y possibly damaging Het
Ccr1 A T 9: 123,763,753 (GRCm39) V259E probably benign Het
Cdk13 G T 13: 17,947,001 (GRCm39) P586T probably benign Het
Cep295 C T 9: 15,243,807 (GRCm39) V1502I probably damaging Het
Csnk1g3 T C 18: 54,028,942 (GRCm39) S32P probably benign Het
Dpysl4 G A 7: 138,678,516 (GRCm39) R492Q probably damaging Het
Duox2 A G 2: 122,127,949 (GRCm39) L78P probably damaging Het
Gm7361 T C 5: 26,462,853 (GRCm39) S32P probably benign Het
Grip1 T A 10: 119,855,976 (GRCm39) V234E probably damaging Het
Herc1 A T 9: 66,404,610 (GRCm39) I4477L possibly damaging Het
Il18r1 G A 1: 40,537,497 (GRCm39) probably null Het
Itpkb A G 1: 180,248,919 (GRCm39) probably benign Het
Jag2 T C 12: 112,876,232 (GRCm39) Y799C probably damaging Het
Jak2 A G 19: 29,277,014 (GRCm39) K857R probably damaging Het
Kbtbd12 A T 6: 88,595,676 (GRCm39) S51R probably damaging Het
Kcnc2 T G 10: 112,291,851 (GRCm39) D346E probably damaging Het
Kcnh1 T A 1: 191,907,224 (GRCm39) M92K possibly damaging Het
Kcnk1 A G 8: 126,751,819 (GRCm39) I142V probably damaging Het
Lsm11 T C 11: 45,828,191 (GRCm39) N196D probably damaging Het
Mpeg1 G T 19: 12,440,156 (GRCm39) C538F probably damaging Het
Nrap G A 19: 56,333,951 (GRCm39) Q969* probably null Het
Nt5el A T 13: 105,236,967 (GRCm39) S73C probably damaging Het
Nup205 T C 6: 35,204,511 (GRCm39) probably null Het
Pdcd5 A G 7: 35,342,110 (GRCm39) V166A possibly damaging Het
Plcb2 A T 2: 118,543,636 (GRCm39) I745N probably damaging Het
Ptprt T C 2: 162,120,027 (GRCm39) T147A probably benign Het
Rbp3 A T 14: 33,676,460 (GRCm39) D136V probably damaging Het
Ripor3 G T 2: 167,834,750 (GRCm39) T247N probably damaging Het
Sgcd A C 11: 46,870,082 (GRCm39) probably benign Het
Slc26a6 T C 9: 108,734,251 (GRCm39) Y211H probably benign Het
Slc37a3 T A 6: 39,314,129 (GRCm39) E494D probably benign Het
Smc5 T C 19: 23,234,856 (GRCm39) E326G probably benign Het
Tctn2 T C 5: 124,753,316 (GRCm39) noncoding transcript Het
Tmed6 A G 8: 107,792,240 (GRCm39) F2L possibly damaging Het
Tox3 A G 8: 90,984,781 (GRCm39) probably benign Het
Tspan9 T C 6: 127,941,401 (GRCm39) Y237C probably benign Het
Ubqlnl A G 7: 103,797,856 (GRCm39) L547P probably damaging Het
Uggt1 T C 1: 36,189,223 (GRCm39) D1421G probably damaging Het
Unc80 T A 1: 66,542,703 (GRCm39) I319K possibly damaging Het
Vac14 A G 8: 111,380,260 (GRCm39) D441G probably benign Het
Vamp8 C T 6: 72,365,316 (GRCm39) V5M probably damaging Het
Yeats2 T A 16: 20,012,429 (GRCm39) H560Q probably benign Het
Zfp13 C T 17: 23,795,072 (GRCm39) A493T probably benign Het
Zfp773 G T 7: 7,139,655 (GRCm39) probably benign Het
Other mutations in Tk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R6909:Tk2 UTSW 8 104,963,442 (GRCm39) nonsense probably null
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
Posted On 2015-04-16