Incidental Mutation 'R5959:Dguok'
ID471344
Institutional Source Beutler Lab
Gene Symbol Dguok
Ensembl Gene ENSMUSG00000014554
Gene Namedeoxyguanosine kinase
SynonymsdGK
MMRRC Submission 044146-MU
Accession Numbers
Is this an essential gene? Not available question?
Stock #R5959 (G1)
Quality Score225
Status Not validated
Chromosome6
Chromosomal Location83480217-83506969 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 83490592 bp
ZygosityHeterozygous
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]
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: 84,215,966 N164Y probably damaging Het
Acp6 A G 3: 97,166,572 E164G probably damaging Het
Adcy5 A T 16: 35,298,410 I1044F probably damaging Het
Ahcyl2 A G 6: 29,886,174 D363G probably damaging Het
Ankrd28 T C 14: 31,729,922 T273A probably benign Het
Cc2d1a A T 8: 84,133,503 Y862* probably null Het
Cfap221 T A 1: 119,932,781 H705L probably damaging Het
Cfap61 C T 2: 145,947,133 T19M probably benign Het
Chga T C 12: 102,561,855 S202P probably benign Het
Cnmd T C 14: 79,656,669 I93V probably damaging Het
Cpne1 G A 2: 156,078,223 S188L probably benign Het
Dchs2 G A 3: 83,325,418 V2237I probably benign Het
Eed A G 7: 89,969,627 I193T probably damaging Het
Fasn C T 11: 120,808,564 E2353K probably damaging Het
Fpr-rs7 G A 17: 20,113,749 H160Y probably benign Het
Gm12394 T A 4: 42,793,492 K213N probably damaging Het
Gramd4 T A 15: 86,127,557 M272K probably damaging Het
Hfm1 A G 5: 106,874,917 S940P probably damaging Het
Ifnlr1 T A 4: 135,705,341 S363T possibly damaging Het
Jak3 A G 8: 71,682,071 N481D probably damaging Het
Kcnj3 A G 2: 55,437,318 K40E probably benign Het
Kif20a G A 18: 34,632,415 A822T probably benign Het
Lpcat4 T A 2: 112,240,035 L31H possibly damaging Het
Myo1c A G 11: 75,657,519 T38A probably benign Het
Myt1l T C 12: 29,920,040 probably null Het
Nbas T C 12: 13,288,801 V214A probably damaging Het
Neb C A 2: 52,156,377 R6537L probably benign Het
Nwd2 T A 5: 63,808,070 F1666I probably benign Het
Olfr67 T A 7: 103,787,516 I254F probably damaging Het
Olfr906 A G 9: 38,488,911 N294S probably damaging Het
Prmt8 C A 6: 127,729,418 V137L probably damaging Het
Ptpn21 A T 12: 98,708,889 probably null Het
Rab15 A G 12: 76,822,269 S17P probably damaging Het
Rbm5 T G 9: 107,752,140 I338L probably benign Het
Rragc G A 4: 123,923,974 S218N probably damaging Het
Sacs T C 14: 61,212,400 M3965T probably damaging Het
Sgo2b T A 8: 63,927,288 I837F probably benign Het
Sorcs3 T G 19: 48,749,396 C751G probably damaging Het
Sowahc A G 10: 59,223,098 D352G probably benign Het
Sox15 C T 11: 69,655,730 R120C probably damaging Het
Srr A G 11: 74,911,065 V126A possibly damaging Het
Tenm3 T A 8: 48,646,447 R108* probably null Het
Traf3ip2 A T 10: 39,641,341 M403L probably benign Het
Trappc11 T C 8: 47,501,558 D949G probably damaging Het
Ttn A G 2: 76,714,616 I32714T probably damaging Het
Ttn T A 2: 76,863,505 T218S possibly damaging Het
Uaca A T 9: 60,870,770 H811L probably damaging Het
Ugt2b1 T C 5: 86,925,954 E182G probably benign Het
Vmn1r49 T C 6: 90,072,804 D72G probably damaging Het
Vmn2r80 A T 10: 79,169,479 M317L probably benign Het
Vwa2 T C 19: 56,881,172 L13P possibly damaging Het
Zc3hav1 G A 6: 38,307,444 T912I probably benign Het
Zfp703 C T 8: 26,979,205 P299L probably damaging Het
Zfp948 A G 17: 21,587,514 K323E probably benign Het
Zfyve27 T G 19: 42,179,448 V143G unknown Het
Other mutations in Dguok
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01475:Dguok APN 6 83490570 missense possibly damaging 0.80
R1983:Dguok UTSW 6 83487128 nonsense probably null
Predicted Primers PCR Primer
(F):5'- CCTGTCACTGTACACAGACC -3'
(R):5'- CTTATCACACGAGGACGAACAG -3'

Sequencing Primer
(F):5'- TGTCACTGTACACAGACCTCTCAAAG -3'
(R):5'- CCTTACATTGTTTAAACTGAGCTGGG -3'
Posted On2017-03-31