Incidental Mutation 'R5959:Dguok'
ID 471344
Institutional Source Beutler Lab
Gene Symbol Dguok
Ensembl Gene ENSMUSG00000014554
Gene Name deoxyguanosine kinase
Synonyms dGK
MMRRC Submission 044146-MU
Accession Numbers
Essential gene? Not available question?
Stock # R5959 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 83457199-83483887 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 83467574 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 91 (R91H)
Ref Sequence ENSEMBL: ENSMUSP00000109520 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014698] [ENSMUST00000113888]
AlphaFold Q9QX60
Predicted Effect probably benign
Transcript: ENSMUST00000014698
AA Change: R91H

PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000014698
Gene: ENSMUSG00000014554
AA Change: R91H

DomainStartEndE-ValueType
low complexity region 5 20 N/A INTRINSIC
Pfam:dNK 41 275 1.8e-74 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113888
AA Change: R91H

PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000109520
Gene: ENSMUSG00000014554
AA Change: R91H

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 unknown
Transcript: ENSMUST00000138941
AA Change: R68H
Predicted Effect silent
Transcript: ENSMUST00000145455
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147060
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153415
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206397
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206974
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 94.6%
Validation Efficiency
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A T 11: 84,106,792 (GRCm39) N164Y probably damaging Het
Acp6 A G 3: 97,073,888 (GRCm39) E164G probably damaging Het
Adcy5 A T 16: 35,118,780 (GRCm39) I1044F probably damaging Het
Ahcyl2 A G 6: 29,886,173 (GRCm39) D363G probably damaging Het
Ankrd28 T C 14: 31,451,879 (GRCm39) T273A probably benign Het
Cc2d1a A T 8: 84,860,132 (GRCm39) Y862* probably null Het
Cfap221 T A 1: 119,860,511 (GRCm39) H705L probably damaging Het
Cfap61 C T 2: 145,789,053 (GRCm39) T19M probably benign Het
Chga T C 12: 102,528,114 (GRCm39) S202P probably benign Het
Cnmd T C 14: 79,894,109 (GRCm39) I93V probably damaging Het
Cpne1 G A 2: 155,920,143 (GRCm39) S188L probably benign Het
Dchs2 G A 3: 83,232,725 (GRCm39) V2237I probably benign Het
Eed A G 7: 89,618,835 (GRCm39) I193T probably damaging Het
Fasn C T 11: 120,699,390 (GRCm39) E2353K probably damaging Het
Fpr-rs7 G A 17: 20,334,011 (GRCm39) H160Y probably benign Het
Gramd4 T A 15: 86,011,758 (GRCm39) M272K probably damaging Het
Hfm1 A G 5: 107,022,783 (GRCm39) S940P probably damaging Het
Ifnlr1 T A 4: 135,432,652 (GRCm39) S363T possibly damaging Het
Jak3 A G 8: 72,134,715 (GRCm39) N481D probably damaging Het
Kcnj3 A G 2: 55,327,330 (GRCm39) K40E probably benign Het
Kif20a G A 18: 34,765,468 (GRCm39) A822T probably benign Het
Lpcat4 T A 2: 112,070,380 (GRCm39) L31H possibly damaging Het
Myo1c A G 11: 75,548,345 (GRCm39) T38A probably benign Het
Myt1l T C 12: 29,970,039 (GRCm39) probably null Het
Nbas T C 12: 13,338,802 (GRCm39) V214A probably damaging Het
Neb C A 2: 52,046,389 (GRCm39) R6537L probably benign Het
Nwd2 T A 5: 63,965,413 (GRCm39) F1666I probably benign Het
Or52z1 T A 7: 103,436,723 (GRCm39) I254F probably damaging Het
Or8b1 A G 9: 38,400,207 (GRCm39) N294S probably damaging Het
Prmt8 C A 6: 127,706,381 (GRCm39) V137L probably damaging Het
Ptpn21 A T 12: 98,675,148 (GRCm39) probably null Het
Rab15 A G 12: 76,869,043 (GRCm39) S17P probably damaging Het
Rbm5 T G 9: 107,629,339 (GRCm39) I338L probably benign Het
Rragc G A 4: 123,817,767 (GRCm39) S218N probably damaging Het
Sacs T C 14: 61,449,849 (GRCm39) M3965T probably damaging Het
Sgo2b T A 8: 64,380,322 (GRCm39) I837F probably benign Het
Sorcs3 T G 19: 48,737,835 (GRCm39) C751G probably damaging Het
Sowahc A G 10: 59,058,920 (GRCm39) D352G probably benign Het
Sox15 C T 11: 69,546,556 (GRCm39) R120C probably damaging Het
Spata31f1e T A 4: 42,793,492 (GRCm39) K213N probably damaging Het
Srr A G 11: 74,801,891 (GRCm39) V126A possibly damaging Het
Tenm3 T A 8: 49,099,482 (GRCm39) R108* probably null Het
Traf3ip2 A T 10: 39,517,337 (GRCm39) M403L probably benign Het
Trappc11 T C 8: 47,954,593 (GRCm39) D949G probably damaging Het
Ttn A G 2: 76,544,960 (GRCm39) I32714T probably damaging Het
Ttn T A 2: 76,693,849 (GRCm39) T218S possibly damaging Het
Uaca A T 9: 60,778,052 (GRCm39) H811L probably damaging Het
Ugt2b1 T C 5: 87,073,813 (GRCm39) E182G probably benign Het
Vmn1r49 T C 6: 90,049,786 (GRCm39) D72G probably damaging Het
Vmn2r80 A T 10: 79,005,313 (GRCm39) M317L probably benign Het
Vwa2 T C 19: 56,869,604 (GRCm39) L13P possibly damaging Het
Zc3hav1 G A 6: 38,284,379 (GRCm39) T912I probably benign Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging Het
Zfp948 A G 17: 21,807,776 (GRCm39) K323E probably benign Het
Zfyve27 T G 19: 42,167,887 (GRCm39) V143G unknown 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
R7985:Dguok UTSW 6 83,457,914 (GRCm39) missense probably damaging 1.00
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'- CCTGTCACTGTACACAGACC -3'
(R):5'- CTTATCACACGAGGACGAACAG -3'

Sequencing Primer
(F):5'- TGTCACTGTACACAGACCTCTCAAAG -3'
(R):5'- CCTTACATTGTTTAAACTGAGCTGGG -3'
Posted On 2017-03-31