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|Institutional Source||Beutler Lab|
|Gene Name||deoxycytidine kinase|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R2037 (G1)|
|Chromosomal Location||88764996-88783281 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 88772717 bp|
|Amino Acid Change||Tyrosine to Aspartic acid at position 99 (Y99D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000031311 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000031311]|
|Predicted Effect||probably damaging
AA Change: Y99D
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Y99D
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
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||
|Other mutations in Dck||
(F):5'- CCGCATTTCTCTTTGAACCTCTTAAA -3'
(R):5'- GCAGCCTCTAATTTGATTACCAGG -3'
(F):5'- TTTAATCCCAGCATGGAGGC -3'
(R):5'- GCCTCTAATTTGATTACCAGGAAATG -3'