Incidental Mutation 'IGL02696:Dck'
ID 303944
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 # IGL02696
Quality Score
Status
Chromosome 5
Chromosomal Location 88912872-88931136 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 88920666 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 129 (S129T)
Ref Sequence ENSEMBL: ENSMUSP00000031311 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031311]
AlphaFold P43346
Predicted Effect probably damaging
Transcript: ENSMUST00000031311
AA Change: S129T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000031311
Gene: ENSMUSG00000029366
AA Change: S129T

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 A G 14: 29,704,628 (GRCm39) T43A probably benign Het
Adgrd1 T C 5: 129,217,918 (GRCm39) probably benign Het
Asxl1 T A 2: 153,242,115 (GRCm39) Y888* probably null Het
Atp8b5 T C 4: 43,369,634 (GRCm39) V924A possibly damaging Het
AU040320 T C 4: 126,736,380 (GRCm39) L821P probably damaging Het
Capn11 T C 17: 45,943,635 (GRCm39) N596S probably damaging Het
Cnot1 C A 8: 96,471,645 (GRCm39) V1219F probably benign Het
Cope T C 8: 70,763,143 (GRCm39) probably null Het
Crim1 A G 17: 78,587,402 (GRCm39) E169G probably damaging Het
Csmd3 A T 15: 47,533,065 (GRCm39) F2395I probably benign Het
Ctso A C 3: 81,858,691 (GRCm39) D220A possibly damaging Het
Cttnbp2 G A 6: 18,434,128 (GRCm39) P577S probably benign Het
D930048N14Rik T A 11: 51,544,821 (GRCm39) probably benign Het
Dlc1 A G 8: 37,041,326 (GRCm39) V1301A possibly damaging Het
Dusp16 G A 6: 134,695,398 (GRCm39) R478C probably damaging Het
Ermap C T 4: 119,044,904 (GRCm39) R49K possibly damaging Het
Flnc A G 6: 29,446,697 (GRCm39) K969R probably damaging Het
Gjb2 A T 14: 57,337,769 (GRCm39) F146L probably damaging Het
Hdc A T 2: 126,436,220 (GRCm39) D550E probably damaging Het
Hs6st3 A T 14: 120,106,731 (GRCm39) I380F probably damaging Het
Htr1d T C 4: 136,170,722 (GRCm39) V317A probably benign Het
Kalrn A T 16: 34,040,484 (GRCm39) M963K probably damaging Het
Kl T A 5: 150,904,450 (GRCm39) S401T probably benign Het
Lair1 A G 7: 4,013,848 (GRCm39) probably benign Het
Lrp5 C T 19: 3,652,253 (GRCm39) V1206I probably benign Het
Matn4 A G 2: 164,238,758 (GRCm39) F343S probably benign Het
Mrgpra4 G T 7: 47,631,251 (GRCm39) R117S possibly damaging Het
Myh14 T C 7: 44,314,530 (GRCm39) Y131C probably damaging Het
Nap1l4 A T 7: 143,077,898 (GRCm39) N345K possibly damaging Het
Oas1c T C 5: 120,943,528 (GRCm39) R204G probably benign Het
Or52e4 A G 7: 104,705,569 (GRCm39) T39A probably benign Het
Or8k25 T A 2: 86,243,959 (GRCm39) T146S probably benign Het
Pakap T A 4: 57,854,663 (GRCm39) D58E probably damaging Het
Pin1 G A 9: 20,574,531 (GRCm39) G150E probably benign Het
R3hdm2 T C 10: 127,300,888 (GRCm39) probably null Het
Rai1 C A 11: 60,084,782 (GRCm39) H1843Q probably benign Het
Siae G T 9: 37,542,680 (GRCm39) A194S probably damaging Het
Slc6a12 G T 6: 121,340,211 (GRCm39) V485L probably benign Het
Stil T G 4: 114,898,692 (GRCm39) S1107R probably damaging Het
Syt16 T C 12: 74,176,185 (GRCm39) V18A possibly damaging Het
Trpm8 A G 1: 88,275,773 (GRCm39) D457G probably damaging Het
Tshr A T 12: 91,460,103 (GRCm39) T66S possibly damaging Het
Ttn T A 2: 76,537,639 (GRCm39) Q34763L probably benign Het
Ubr2 T A 17: 47,274,691 (GRCm39) M830L probably benign Het
Ulk1 A G 5: 110,940,918 (GRCm39) F337S probably damaging Het
Other mutations in Dck
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01589:Dck APN 5 88,922,095 (GRCm39) splice site probably benign
IGL02229:Dck APN 5 88,921,964 (GRCm39) missense probably damaging 1.00
IGL02317:Dck APN 5 88,921,942 (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