Incidental Mutation 'R7985:Dguok'
ID 651423
Institutional Source Beutler Lab
Gene Symbol Dguok
Ensembl Gene ENSMUSG00000014554
Gene Name deoxyguanosine kinase
Synonyms dGK
MMRRC Submission 046026-MU
Accession Numbers
Essential gene? Not available question?
Stock # R7985 (G1)
Quality Score 214.009
Status Validated
Chromosome 6
Chromosomal Location 83457199-83483887 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 83457914 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 240 (E240K)
Ref Sequence ENSEMBL: ENSMUSP00000014698 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014698] [ENSMUST00000113888]
AlphaFold Q9QX60
Predicted Effect probably damaging
Transcript: ENSMUST00000014698
AA Change: E240K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000014698
Gene: ENSMUSG00000014554
AA Change: E240K

DomainStartEndE-ValueType
low complexity region 5 20 N/A INTRINSIC
Pfam:dNK 41 275 1.8e-74 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113888
SMART Domains Protein: ENSMUSP00000109520
Gene: ENSMUSG00000014554

DomainStartEndE-ValueType
low complexity region 5 20 N/A INTRINSIC
Pfam:AAA_18 41 223 6.7e-8 PFAM
Pfam:dNK 110 236 9.6e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138941
Predicted Effect probably benign
Transcript: ENSMUST00000145455
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 98% (54/55)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In mammalian cells, the phosphorylation of purine deoxyribonucleosides is mediated predominantly by two deoxyribonucleoside kinases, cytosolic deoxycytidine kinase and mitochondrial deoxyguanosine kinase. The protein encoded by this gene is responsible for phosphorylation of purine deoxyribonucleosides in the mitochondrial matrix. In addition, this protein phosphorylates several purine deoxyribonucleoside analogs used in the treatment of lymphoproliferative disorders, and this phosphorylation is critical for the effectiveness of the analogs. Alternative splice variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik C A 2: 68,494,693 (GRCm39) S77R unknown Het
Adamts1 T C 16: 85,595,002 (GRCm39) Y582C probably damaging Het
Ahnak2 A T 12: 112,745,398 (GRCm39) V683E Het
Allc T G 12: 28,603,971 (GRCm39) T371P probably damaging Het
Ankrd12 A G 17: 66,291,191 (GRCm39) I1414T probably benign Het
Bahcc1 A G 11: 120,163,717 (GRCm39) K672E probably damaging Het
C3ar1 A T 6: 122,826,964 (GRCm39) S418T probably damaging Het
Calca A G 7: 114,234,413 (GRCm39) V12A possibly damaging Het
Carmil3 A G 14: 55,734,409 (GRCm39) E410G probably benign Het
Cfh A G 1: 140,036,564 (GRCm39) F680S probably damaging Het
Cracd T C 5: 76,805,897 (GRCm39) V123A unknown Het
Csf3 G A 11: 98,593,273 (GRCm39) G130D probably damaging Het
Cuedc1 A T 11: 88,073,342 (GRCm39) Q169L probably benign Het
Cyp2c66 T A 19: 39,102,430 (GRCm39) W20R probably null Het
Dlg1 T G 16: 31,606,923 (GRCm39) Y220* probably null Het
Dnah7a T C 1: 53,557,886 (GRCm39) Y2176C probably damaging Het
Dnai1 T C 4: 41,630,055 (GRCm39) I488T probably benign Het
Dock1 G T 7: 134,348,683 (GRCm39) C299F possibly damaging Het
Ebi3 C T 17: 56,260,997 (GRCm39) T59M probably benign Het
Esrp1 G A 4: 11,367,153 (GRCm39) S160F probably benign Het
Evi5l A G 8: 4,253,536 (GRCm39) D471G probably benign Het
Farp2 T C 1: 93,504,246 (GRCm39) F341S probably damaging Het
Fbn1 A G 2: 125,143,798 (GRCm39) V2777A probably benign Het
Glcci1 T C 6: 8,573,186 (GRCm39) I225T probably damaging Het
Gm3336 A G 8: 71,173,176 (GRCm39) T63A unknown Het
Gm9767 A G 10: 25,954,681 (GRCm39) T78A unknown Het
H2-T5 T G 17: 36,478,445 (GRCm39) T168P probably damaging Het
Habp4 T A 13: 64,323,860 (GRCm39) M261K probably benign Het
Herc2 A G 7: 55,814,992 (GRCm39) T2744A probably benign Het
Hlx A G 1: 184,464,223 (GRCm39) V39A probably benign Het
Ifi204 G A 1: 173,587,772 (GRCm39) T129I possibly damaging Het
Itfg1 A G 8: 86,452,197 (GRCm39) I534T probably damaging Het
Klhl33 A T 14: 51,128,962 (GRCm39) C496S probably benign Het
Lamb1 T A 12: 31,350,214 (GRCm39) V713D possibly damaging Het
Mon2 G T 10: 122,852,213 (GRCm39) H1052Q probably damaging Het
Ndst2 T C 14: 20,778,478 (GRCm39) probably null Het
Nphp1 A T 2: 127,587,829 (GRCm39) M582K probably damaging Het
Nt5el C T 13: 105,256,482 (GRCm39) T517I probably benign Het
Ogfr AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG 2: 180,236,850 (GRCm39) probably benign Het
Or2w3b A G 11: 58,623,532 (GRCm39) V153A possibly damaging Het
Or8b47 T A 9: 38,435,239 (GRCm39) D70E probably damaging Het
Padi2 A T 4: 140,659,403 (GRCm39) H236L probably benign Het
Pira2 A T 7: 3,844,696 (GRCm39) F445Y probably benign Het
Psenen T C 7: 30,261,503 (GRCm39) I75V probably benign Het
Pycr1 A T 11: 120,533,746 (GRCm39) M37K probably benign Het
Rpl4 T A 9: 64,085,212 (GRCm39) N317K probably damaging Het
Scart2 T A 7: 139,876,806 (GRCm39) D732E probably damaging Het
Scn8a T A 15: 100,914,843 (GRCm39) probably null Het
Sdk1 A G 5: 142,113,602 (GRCm39) T1550A probably damaging Het
Shisa6 G T 11: 66,265,990 (GRCm39) T246K Het
Sis A T 3: 72,844,294 (GRCm39) probably null Het
Slc22a14 A C 9: 118,999,704 (GRCm39) S496A probably benign Het
Slc8a3 G A 12: 81,361,767 (GRCm39) R351C probably damaging Het
Surf2 A G 2: 26,809,288 (GRCm39) K202R probably benign Het
Tnxb T A 17: 34,935,984 (GRCm39) probably null Het
Ugt2b36 T A 5: 87,239,983 (GRCm39) N134I probably damaging Het
Wdr97 T C 15: 76,245,687 (GRCm39) V1308A Het
Xpr1 G A 1: 155,188,641 (GRCm39) A333V possibly damaging Het
Zfp408 A T 2: 91,476,776 (GRCm39) M126K probably benign Het
Zfy2 T C Y: 2,116,263 (GRCm39) Q259R probably benign Het
Other mutations in Dguok
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01475:Dguok APN 6 83,467,552 (GRCm39) missense possibly damaging 0.80
R1983:Dguok UTSW 6 83,464,110 (GRCm39) nonsense probably null
R5959:Dguok UTSW 6 83,467,574 (GRCm39) missense probably benign 0.25
R8327:Dguok UTSW 6 83,464,061 (GRCm39) missense probably damaging 1.00
R9561:Dguok UTSW 6 83,467,548 (GRCm39) missense probably damaging 1.00
R9670:Dguok UTSW 6 83,463,999 (GRCm39) missense probably benign 0.35
Predicted Primers PCR Primer
(F):5'- ATCTGGGATTTGCCTATGAGC -3'
(R):5'- TGGGTTGCTCACATCAGTGC -3'

Sequencing Primer
(F):5'- ATTTGCCTATGAGCTCAGGG -3'
(R):5'- GCTCACATCAGTGCTTTAAATGCTG -3'
Posted On 2020-09-15