Incidental Mutation 'IGL02229:Dck'
ID 285415
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dck
Ensembl Gene ENSMUSG00000029366
Gene Name deoxycytidine kinase
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02229
Quality Score
Status
Chromosome 5
Chromosomal Location 88912872-88931136 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88921964 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 142 (Y142C)
Ref Sequence ENSEMBL: ENSMUSP00000031311 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031311]
AlphaFold P43346
Predicted Effect probably damaging
Transcript: ENSMUST00000031311
AA Change: Y142C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031311
Gene: ENSMUSG00000029366
AA Change: Y142C

DomainStartEndE-ValueType
Pfam:dNK 24 258 2.5e-79 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196967
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Deoxycytidine kinase (DCK) is required for the phosphorylation of several deoxyribonucleosides and their nucleoside analogs. Deficiency of DCK is associated with resistance to antiviral and anticancer chemotherapeutic agents. Conversely, increased deoxycytidine kinase activity is associated with increased activation of these compounds to cytotoxic nucleoside triphosphate derivatives. DCK is clinically important because of its relationship to drug resistance and sensitivity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene have profound defects in lymphopoiesis. Thymic T cell number and overall lymphocyte number are greatly reduced. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik A G 5: 64,055,696 (GRCm39) D144G probably damaging Het
Adgrg1 G T 8: 95,730,139 (GRCm39) D114Y probably damaging Het
Ago4 T A 4: 126,405,325 (GRCm39) N416I probably benign Het
Aoc1 C T 6: 48,882,843 (GRCm39) Q240* probably null Het
Atl1 G A 12: 69,972,799 (GRCm39) V40I probably benign Het
Cdh2 T C 18: 16,757,810 (GRCm39) I591V probably benign Het
Cic C A 7: 24,990,375 (GRCm39) Q1959K probably damaging Het
Cmya5 C T 13: 93,229,194 (GRCm39) E1965K possibly damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cspp1 T C 1: 10,153,781 (GRCm39) S397P probably damaging Het
D130043K22Rik T C 13: 25,059,907 (GRCm39) Y593H probably damaging Het
Eea1 A T 10: 95,854,046 (GRCm39) E568V probably damaging Het
Gabra3 A G X: 71,544,683 (GRCm39) probably null Het
Gucy2f A G X: 140,962,984 (GRCm39) S342P probably benign Het
Hbb-bh1 T A 7: 103,492,032 (GRCm39) I61F possibly damaging Het
Hook1 T C 4: 95,889,488 (GRCm39) S235P possibly damaging Het
Hoxd12 G A 2: 74,506,278 (GRCm39) R230H probably damaging Het
Iglc2 C T 16: 19,017,483 (GRCm39) A41T probably benign Het
Il1r1 A G 1: 40,352,518 (GRCm39) K566E probably damaging Het
Kcns3 A T 12: 11,142,093 (GRCm39) M202K probably damaging Het
Krt7 C A 15: 101,325,497 (GRCm39) A442D probably benign Het
Ltk C T 2: 119,589,054 (GRCm39) R200H probably benign Het
Macf1 G T 4: 123,403,619 (GRCm39) D582E probably damaging Het
Mbnl3 A T X: 50,228,218 (GRCm39) Y69N probably damaging Het
Mpp1 T C X: 74,165,034 (GRCm39) probably benign Het
Myo18b A G 5: 113,025,976 (GRCm39) S25P unknown Het
Nsd3 A G 8: 26,200,775 (GRCm39) N1289S probably damaging Het
Or8d1 T A 9: 38,766,712 (GRCm39) M118K possibly damaging Het
Pacs2 A G 12: 113,020,420 (GRCm39) probably benign Het
Rab3gap2 A G 1: 184,991,580 (GRCm39) K689E possibly damaging Het
Sva T A 6: 42,019,156 (GRCm39) C109S probably damaging Het
Taf3 T C 2: 9,957,645 (GRCm39) N174S probably damaging Het
Tbc1d5 A T 17: 51,159,628 (GRCm39) M393K probably damaging Het
Tmem242 A T 17: 5,461,682 (GRCm39) S129T probably benign Het
Ttn A T 2: 76,701,513 (GRCm39) probably benign Het
Other mutations in Dck
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01589:Dck APN 5 88,922,095 (GRCm39) splice site probably benign
IGL02317:Dck APN 5 88,921,942 (GRCm39) missense probably damaging 1.00
IGL02696:Dck APN 5 88,920,666 (GRCm39) missense probably damaging 1.00
rosa UTSW 5 88,920,582 (GRCm39) missense probably damaging 1.00
R0600:Dck UTSW 5 88,929,080 (GRCm39) missense probably benign 0.01
R2019:Dck UTSW 5 88,921,943 (GRCm39) missense probably damaging 1.00
R2037:Dck UTSW 5 88,920,576 (GRCm39) missense probably damaging 1.00
R2140:Dck UTSW 5 88,920,582 (GRCm39) missense probably damaging 1.00
R2142:Dck UTSW 5 88,920,582 (GRCm39) missense probably damaging 1.00
R4834:Dck UTSW 5 88,920,595 (GRCm39) missense probably damaging 1.00
R8702:Dck UTSW 5 88,926,272 (GRCm39) missense probably damaging 0.99
R9149:Dck UTSW 5 88,913,166 (GRCm39) missense probably benign
Posted On 2015-04-16