Incidental Mutation 'IGL02229:Dck'
ID285415
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dck
Ensembl Gene ENSMUSG00000029366
Gene Namedeoxycytidine kinase
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02229
Quality Score
Status
Chromosome5
Chromosomal Location88764996-88783281 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 88774105 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 142 (Y142C)
Ref Sequence ENSEMBL: ENSMUSP00000031311 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031311]
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: 63,898,353 D144G probably damaging Het
Adgrg1 G T 8: 95,003,511 D114Y probably damaging Het
Ago4 T A 4: 126,511,532 N416I probably benign Het
Aoc1 C T 6: 48,905,909 Q240* probably null Het
Atl1 G A 12: 69,926,025 V40I probably benign Het
Cdh2 T C 18: 16,624,753 I591V probably benign Het
Cic C A 7: 25,290,950 Q1959K probably damaging Het
Cmya5 C T 13: 93,092,686 E1965K possibly damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cspp1 T C 1: 10,083,556 S397P probably damaging Het
D130043K22Rik T C 13: 24,875,924 Y593H probably damaging Het
Eea1 A T 10: 96,018,184 E568V probably damaging Het
Gabra3 A G X: 72,501,077 probably null Het
Gucy2f A G X: 142,179,988 S342P probably benign Het
Hbb-bh1 T A 7: 103,842,825 I61F possibly damaging Het
Hook1 T C 4: 96,001,251 S235P possibly damaging Het
Hoxd12 G A 2: 74,675,934 R230H probably damaging Het
Iglc2 C T 16: 19,198,733 A41T probably benign Het
Il1r1 A G 1: 40,313,358 K566E probably damaging Het
Kcns3 A T 12: 11,092,092 M202K probably damaging Het
Krt7 C A 15: 101,427,616 A442D probably benign Het
Ltk C T 2: 119,758,573 R200H probably benign Het
Macf1 G T 4: 123,509,826 D582E probably damaging Het
Mbnl3 A T X: 51,139,341 Y69N probably damaging Het
Mpp1 T C X: 75,121,428 probably benign Het
Myo18b A G 5: 112,878,110 S25P unknown Het
Nsd3 A G 8: 25,710,748 N1289S probably damaging Het
Olfr26 T A 9: 38,855,416 M118K possibly damaging Het
Pacs2 A G 12: 113,056,800 probably benign Het
Rab3gap2 A G 1: 185,259,383 K689E possibly damaging Het
Sva T A 6: 42,042,222 C109S probably damaging Het
Taf3 T C 2: 9,952,834 N174S probably damaging Het
Tbc1d5 A T 17: 50,852,600 M393K probably damaging Het
Tmem242 A T 17: 5,411,407 S129T probably benign Het
Ttn A T 2: 76,871,169 probably benign Het
Other mutations in Dck
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01589:Dck APN 5 88774236 splice site probably benign
IGL02317:Dck APN 5 88774083 missense probably damaging 1.00
IGL02696:Dck APN 5 88772807 missense probably damaging 1.00
rosa UTSW 5 88772723 missense probably damaging 1.00
R0600:Dck UTSW 5 88781221 missense probably benign 0.01
R2019:Dck UTSW 5 88774084 missense probably damaging 1.00
R2037:Dck UTSW 5 88772717 missense probably damaging 1.00
R2140:Dck UTSW 5 88772723 missense probably damaging 1.00
R2142:Dck UTSW 5 88772723 missense probably damaging 1.00
R4834:Dck UTSW 5 88772736 missense probably damaging 1.00
Posted On2015-04-16