Incidental Mutation 'R1586:Guk1'
ID 177522
Institutional Source Beutler Lab
Gene Symbol Guk1
Ensembl Gene ENSMUSG00000020444
Gene Name guanylate kinase 1
Synonyms
MMRRC Submission 039623-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # R1586 (G1)
Quality Score 213
Status Validated
Chromosome 11
Chromosomal Location 59074701-59083069 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 59077675 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 22 (S22P)
Ref Sequence ENSEMBL: ENSMUSP00000130214 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108790] [ENSMUST00000108793] [ENSMUST00000170202] [ENSMUST00000172714] [ENSMUST00000170895]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000108790
SMART Domains Protein: ENSMUSP00000104418
Gene: ENSMUSG00000043448

DomainStartEndE-ValueType
CNX 45 78 3.37e-17 SMART
low complexity region 101 127 N/A INTRINSIC
low complexity region 128 142 N/A INTRINSIC
low complexity region 143 193 N/A INTRINSIC
Connexin_CCC 222 288 9.88e-42 SMART
low complexity region 298 330 N/A INTRINSIC
low complexity region 347 372 N/A INTRINSIC
low complexity region 388 405 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108793
SMART Domains Protein: ENSMUSP00000104421
Gene: ENSMUSG00000043448

DomainStartEndE-ValueType
CNX 45 78 3.37e-17 SMART
low complexity region 101 127 N/A INTRINSIC
low complexity region 128 142 N/A INTRINSIC
low complexity region 143 193 N/A INTRINSIC
Connexin_CCC 222 288 9.88e-42 SMART
low complexity region 298 330 N/A INTRINSIC
low complexity region 347 372 N/A INTRINSIC
low complexity region 388 405 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130815
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151211
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154386
Predicted Effect probably damaging
Transcript: ENSMUST00000170202
AA Change: S34P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127566
Gene: ENSMUSG00000020444
AA Change: S34P

DomainStartEndE-ValueType
GuKc 24 210 1.36e-94 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000172714
AA Change: S13P

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000170895
AA Change: S22P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130214
Gene: ENSMUSG00000020444
AA Change: S22P

DomainStartEndE-ValueType
GuKc 12 198 1.36e-94 SMART
Meta Mutation Damage Score 0.5054 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 88.8%
Validation Efficiency 93% (65/70)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an enzyme that catalyzes the transfer of a phosphate group from ATP to guanosine monophosphate (GMP) to form guanosine diphosphate (GDP). The encoded protein is thought to be a good target for cancer chemotherapy. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 C T 2: 25,337,228 (GRCm39) A2361V probably damaging Het
Alpi A G 1: 87,027,923 (GRCm39) I219T probably damaging Het
Anapc10 T A 8: 80,501,772 (GRCm39) M180K probably benign Het
Ank3 A G 10: 69,713,708 (GRCm39) I431V probably damaging Het
Anxa8 T A 14: 33,815,894 (GRCm39) D182E probably damaging Het
Atp1a3 T A 7: 24,678,808 (GRCm39) I945F probably damaging Het
Atp2a3 T C 11: 72,882,570 (GRCm39) S1019P probably damaging Het
Cbs T A 17: 31,841,448 (GRCm39) I258F probably damaging Het
Cic T C 7: 24,985,386 (GRCm39) S277P probably damaging Het
Cidea T A 18: 67,493,230 (GRCm39) V83E probably damaging Het
Cilp G A 9: 65,186,997 (GRCm39) G1031S probably damaging Het
Clca3a2 A G 3: 144,516,477 (GRCm39) I373T possibly damaging Het
Cpvl T A 6: 53,903,886 (GRCm39) D293V probably damaging Het
Cryz A G 3: 154,317,147 (GRCm39) N122S probably benign Het
Dmap1 T C 4: 117,533,319 (GRCm39) E245G probably damaging Het
Epha2 C T 4: 141,045,916 (GRCm39) probably benign Het
Fam222b C T 11: 78,045,347 (GRCm39) L303F probably damaging Het
Fastkd1 T C 2: 69,542,492 (GRCm39) D105G probably benign Het
Fat4 T A 3: 38,943,009 (GRCm39) L634Q probably damaging Het
Fbxo10 A T 4: 45,042,036 (GRCm39) I731N possibly damaging Het
Fig4 A G 10: 41,141,423 (GRCm39) F279L probably damaging Het
Kmt2d A G 15: 98,762,934 (GRCm39) probably benign Het
Macf1 A T 4: 123,403,639 (GRCm39) S727T probably benign Het
Mki67 T A 7: 135,315,701 (GRCm39) K54* probably null Het
Ms4a8a T C 19: 11,053,696 (GRCm39) T137A possibly damaging Het
Myo5c T C 9: 75,174,313 (GRCm39) Y557H probably damaging Het
Nav3 T A 10: 109,689,115 (GRCm39) K387N probably damaging Het
Oga T G 19: 45,765,349 (GRCm39) T153P possibly damaging Het
Or5bb10 G T 19: 12,206,241 (GRCm39) A223E probably damaging Het
Pde4c T A 8: 71,199,508 (GRCm39) Y223N probably damaging Het
Psd T G 19: 46,303,237 (GRCm39) E715A probably damaging Het
Rpl7 A T 1: 16,172,807 (GRCm39) S171T probably benign Het
Rrm1 A G 7: 102,116,112 (GRCm39) *66W probably null Het
Scgb1b3 T A 7: 31,075,388 (GRCm39) H79Q probably damaging Het
Serpinb9 A T 13: 33,199,469 (GRCm39) M255L probably benign Het
Slc35a4 T C 18: 36,816,058 (GRCm39) V296A probably benign Het
Smgc G A 15: 91,722,596 (GRCm39) A9T possibly damaging Het
Snx11 C A 11: 96,661,522 (GRCm39) W161L probably benign Het
Spag17 A G 3: 99,929,068 (GRCm39) K533E possibly damaging Het
Spata31g1 A G 4: 42,971,512 (GRCm39) I282V probably benign Het
Speer4b A G 5: 27,702,011 (GRCm39) S250P probably damaging Het
Spta1 A T 1: 174,041,061 (GRCm39) H1287L probably benign Het
Surf2 T C 2: 26,809,767 (GRCm39) F239S probably damaging Het
Tada1 G A 1: 166,214,319 (GRCm39) R106H possibly damaging Het
Tbc1d22a C A 15: 86,235,852 (GRCm39) probably null Het
Tbcd A G 11: 121,387,886 (GRCm39) Q339R probably benign Het
Tdrd7 A G 4: 45,994,445 (GRCm39) H281R probably benign Het
Tomm5 A G 4: 45,107,915 (GRCm39) probably null Het
Ttc7 T C 17: 87,669,373 (GRCm39) probably null Het
Ulk1 A T 5: 110,937,382 (GRCm39) F638Y probably damaging Het
Vps35l T A 7: 118,409,195 (GRCm39) I612N probably damaging Het
Wdr93 C A 7: 79,418,109 (GRCm39) D277E probably damaging Het
Znrf3 T C 11: 5,231,477 (GRCm39) R583G probably damaging Het
Zscan29 T A 2: 120,991,641 (GRCm39) I716F probably damaging Het
Other mutations in Guk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0254:Guk1 UTSW 11 59,076,854 (GRCm39) missense probably damaging 0.96
R0838:Guk1 UTSW 11 59,075,921 (GRCm39) missense probably damaging 1.00
R0839:Guk1 UTSW 11 59,075,921 (GRCm39) missense probably damaging 1.00
R0840:Guk1 UTSW 11 59,075,921 (GRCm39) missense probably damaging 1.00
R1729:Guk1 UTSW 11 59,076,138 (GRCm39) missense probably damaging 1.00
R1784:Guk1 UTSW 11 59,076,138 (GRCm39) missense probably damaging 1.00
R1795:Guk1 UTSW 11 59,077,639 (GRCm39) missense probably benign 0.05
R7411:Guk1 UTSW 11 59,076,811 (GRCm39) missense
R7446:Guk1 UTSW 11 59,076,850 (GRCm39) missense probably benign 0.31
RF018:Guk1 UTSW 11 59,077,234 (GRCm39) missense probably benign 0.25
Z1186:Guk1 UTSW 11 59,082,747 (GRCm39) intron probably benign
Z1187:Guk1 UTSW 11 59,082,747 (GRCm39) intron probably benign
Z1188:Guk1 UTSW 11 59,082,747 (GRCm39) intron probably benign
Z1191:Guk1 UTSW 11 59,082,747 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- TGTGCATCTGGGGACTCTAGGAAC -3'
(R):5'- CAGATTCTGAAGGGCAGCCTCTATG -3'

Sequencing Primer
(F):5'- GACTCTAGGAACAGTCCTGTG -3'
(R):5'- GGATATTGGAATCCTGTCAGCC -3'
Posted On 2014-04-24