Incidental Mutation 'R8039:Gck'
ID 618428
Institutional Source Beutler Lab
Gene Symbol Gck
Ensembl Gene ENSMUSG00000041798
Gene Name glucokinase
Synonyms Gls006, hexokinase 4, HK4, MODY2, Hlb62
MMRRC Submission 067476-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8039 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 5850820-5900081 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 5860301 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 114 (A114T)
Ref Sequence ENSEMBL: ENSMUSP00000099984 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102920] [ENSMUST00000109822] [ENSMUST00000109823]
AlphaFold P52792
Predicted Effect probably benign
Transcript: ENSMUST00000102920
AA Change: A114T

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000099984
Gene: ENSMUSG00000041798
AA Change: A114T

Pfam:Hexokinase_1 10 217 4.3e-80 PFAM
Pfam:Hexokinase_2 219 458 1.3e-100 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109822
AA Change: A114T

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000105447
Gene: ENSMUSG00000041798
AA Change: A114T

Pfam:Hexokinase_1 10 217 1e-79 PFAM
Pfam:Hexokinase_2 219 458 7.8e-101 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109823
AA Change: A114T

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000105448
Gene: ENSMUSG00000041798
AA Change: A114T

Pfam:Hexokinase_1 15 216 1.9e-74 PFAM
Pfam:Hexokinase_2 221 455 2.2e-79 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. Alternative splicing of this gene results in three tissue-specific forms of glucokinase, one found in pancreatic islet beta cells and two found in liver. The protein localizes to the outer membrane of mitochondria. In contrast to other forms of hexokinase, this enzyme is not inhibited by its product glucose-6-phosphate but remains active while glucose is abundant. Mutations in this gene have been associated with non-insulin dependent diabetes mellitus (NIDDM), maturity onset diabetes of the young, type 2 (MODY2) and persistent hyperinsulinemic hypoglycemia of infancy (PHHI). [provided by RefSeq, Apr 2009]
PHENOTYPE: Targeted disruption of this gene causes mild hyperglycemia in heterozygous mice and extreme hyperglycemia and embryonic to postnatal lethality in homozygous mice. Hyperglycemic knock-out or ENU-induced mutants may show reduced body weight and liver glycogen level, hepatic steatosis, and glucosuria. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T C 17: 24,547,699 (GRCm39) H225R probably damaging Het
Adgrb2 T A 4: 129,916,061 (GRCm39) L1451Q probably damaging Het
Afdn T C 17: 14,119,403 (GRCm39) L1713P probably damaging Het
Agr2 A T 12: 36,045,558 (GRCm39) I15F probably benign Het
Agrn T C 4: 156,253,468 (GRCm39) T1808A probably benign Het
Akap6 A G 12: 53,188,459 (GRCm39) I1958V probably benign Het
Ankrd60 C A 2: 173,414,284 (GRCm39) probably null Het
Anpep A G 7: 79,489,148 (GRCm39) probably null Het
Apoa4 A T 9: 46,153,591 (GRCm39) D64V possibly damaging Het
Arhgef26 C A 3: 62,247,351 (GRCm39) T145N probably benign Het
Art1 A T 7: 101,756,052 (GRCm39) Q81L probably benign Het
Astl A T 2: 127,185,903 (GRCm39) S71C probably damaging Het
Atp2a1 A G 7: 126,047,977 (GRCm39) I611T probably damaging Het
Bltp1 T A 3: 36,997,363 (GRCm39) V1140E probably benign Het
Cacna2d2 T A 9: 107,404,632 (GRCm39) V1139D possibly damaging Het
Castor1 G T 11: 4,171,639 (GRCm39) A288S probably damaging Het
Chst10 T A 1: 38,905,112 (GRCm39) K198* probably null Het
Ckmt2 G A 13: 92,011,431 (GRCm39) H60Y possibly damaging Het
Coq7 G C 7: 118,132,469 (GRCm39) S2R possibly damaging Het
Cspp1 T A 1: 10,183,238 (GRCm39) D814E probably benign Het
Cyp2c54 CCTCTTTCATAGCTCT CCTCT 19: 40,062,176 (GRCm39) probably null Het
Daam2 C A 17: 49,771,566 (GRCm39) G860V probably damaging Het
Ecm2 A T 13: 49,668,326 (GRCm39) I10F probably benign Het
Epb41l1 A T 2: 156,348,332 (GRCm39) D312V probably damaging Het
Epsti1 G A 14: 78,168,741 (GRCm39) R126H probably damaging Het
Erc1 A T 6: 119,750,626 (GRCm39) Y367* probably null Het
Erh T A 12: 80,684,352 (GRCm39) R42W probably damaging Het
Fam124a C T 14: 62,843,325 (GRCm39) Q278* probably null Het
Fbxo3 T A 2: 103,885,286 (GRCm39) L385Q probably damaging Het
Fbxo31 T A 8: 122,285,794 (GRCm39) T219S probably damaging Het
Fstl5 T G 3: 76,555,725 (GRCm39) V534G possibly damaging Het
Gbp2b A T 3: 142,323,925 (GRCm39) I577F probably benign Het
Gbp8 A T 5: 105,198,783 (GRCm39) L44* probably null Het
Gtf2i A G 5: 134,284,688 (GRCm39) V537A possibly damaging Het
Iqcm C A 8: 76,489,733 (GRCm39) H400Q probably damaging Het
Iqcn T C 8: 71,163,555 (GRCm39) V916A probably benign Het
Itpr1 T C 6: 108,363,589 (GRCm39) L737P probably damaging Het
Jakmip1 A G 5: 37,258,116 (GRCm39) E254G probably damaging Het
Kif15 A T 9: 122,836,490 (GRCm39) R1095W possibly damaging Het
Klhdc8a G A 1: 132,230,846 (GRCm39) R237Q probably benign Het
Klhl38 T C 15: 58,186,258 (GRCm39) E157G probably benign Het
Klrk1 T A 6: 129,589,786 (GRCm39) N221I probably benign Het
Lhx8 A T 3: 154,012,576 (GRCm39) H345Q probably damaging Het
Lims1 T A 10: 58,245,494 (GRCm39) N174K probably benign Het
Madd T A 2: 90,997,406 (GRCm39) Q754L probably benign Het
Mau2 T C 8: 70,472,440 (GRCm39) D581G probably damaging Het
Miga1 A T 3: 151,982,393 (GRCm39) I561N probably benign Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Mob3c T C 4: 115,688,884 (GRCm39) V139A probably benign Het
Nadk G T 4: 155,661,524 (GRCm39) D17Y probably benign Het
Nalf1 T C 8: 9,257,892 (GRCm39) T419A probably benign Het
Ncapd2 C T 6: 125,157,989 (GRCm39) V380I probably damaging Het
Nes G A 3: 87,884,315 (GRCm39) R858K probably benign Het
Nphp3 T C 9: 103,909,162 (GRCm39) S791P probably benign Het
Nup210 T C 6: 91,047,215 (GRCm39) T496A probably benign Het
Or4c100 C T 2: 88,356,215 (GRCm39) T96I probably benign Het
Or6y1 T A 1: 174,277,162 (GRCm39) S324R unknown Het
Or8b50 T A 9: 38,518,685 (GRCm39) M308K probably benign Het
Ovgp1 T A 3: 105,883,339 (GRCm39) S105T probably benign Het
Pbld2 T A 10: 62,883,771 (GRCm39) C79S probably damaging Het
Pik3cd T A 4: 149,744,323 (GRCm39) M143L possibly damaging Het
Plat G T 8: 23,262,248 (GRCm39) G91W probably damaging Het
Poln A G 5: 34,280,016 (GRCm39) V282A probably benign Het
Ppp1r11 T C 17: 37,262,338 (GRCm39) T21A probably damaging Het
Prpf8 T A 11: 75,393,368 (GRCm39) I1664N possibly damaging Het
Prr29 C T 11: 106,267,738 (GRCm39) A161V probably benign Het
Rasa3 T C 8: 13,638,931 (GRCm39) D292G probably damaging Het
Rnf25 T C 1: 74,633,123 (GRCm39) T411A probably damaging Het
Rraga C T 4: 86,494,217 (GRCm39) T21I probably damaging Het
Setdb2 T A 14: 59,639,824 (GRCm39) Y673F probably damaging Het
Sf3a1 C T 11: 4,117,787 (GRCm39) T183I probably damaging Het
Shank3 A T 15: 89,389,642 (GRCm39) H413L probably damaging Het
Slc30a5 A G 13: 100,950,189 (GRCm39) probably null Het
Slc6a18 T C 13: 73,813,745 (GRCm39) S523G probably benign Het
Spaca1 C T 4: 34,044,207 (GRCm39) V96I probably damaging Het
Sycp2 C T 2: 178,016,378 (GRCm39) A695T probably benign Het
Tnrc18 C A 5: 142,717,807 (GRCm39) G2216C unknown Het
Trak2 T C 1: 58,985,447 (GRCm39) N17S probably benign Het
Ttn T A 2: 76,708,776 (GRCm39) N8792I unknown Het
Ttyh1 T C 7: 4,125,540 (GRCm39) V64A probably benign Het
Usb1 T A 8: 96,060,041 (GRCm39) S50R probably damaging Het
Ush2a T A 1: 188,689,570 (GRCm39) I5044N probably damaging Het
Vmn1r84 A T 7: 12,095,935 (GRCm39) F253I possibly damaging Het
Vmn2r99 T C 17: 19,600,302 (GRCm39) I442T probably benign Het
Vsig1 C T X: 139,833,875 (GRCm39) H232Y probably benign Het
Other mutations in Gck
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01624:Gck APN 11 5,853,106 (GRCm39) missense possibly damaging 0.67
IGL01647:Gck APN 11 5,854,472 (GRCm39) missense probably damaging 0.97
IGL03145:Gck APN 11 5,859,093 (GRCm39) missense probably damaging 0.99
Grahamcracker UTSW 11 5,852,165 (GRCm39) missense probably damaging 1.00
Tootsie UTSW 11 5,859,150 (GRCm39) missense possibly damaging 0.63
R0139:Gck UTSW 11 5,860,370 (GRCm39) missense probably damaging 1.00
R0139:Gck UTSW 11 5,859,139 (GRCm39) nonsense probably null
R0691:Gck UTSW 11 5,856,691 (GRCm39) missense probably damaging 1.00
R1829:Gck UTSW 11 5,860,984 (GRCm39) missense probably damaging 0.97
R1866:Gck UTSW 11 5,853,253 (GRCm39) missense probably benign 0.02
R1868:Gck UTSW 11 5,852,165 (GRCm39) missense probably damaging 1.00
R1992:Gck UTSW 11 5,856,515 (GRCm39) missense probably damaging 1.00
R3885:Gck UTSW 11 5,860,318 (GRCm39) missense probably damaging 1.00
R4179:Gck UTSW 11 5,860,295 (GRCm39) missense probably benign 0.43
R4888:Gck UTSW 11 5,859,150 (GRCm39) missense possibly damaging 0.63
R7034:Gck UTSW 11 5,851,747 (GRCm39) missense probably damaging 1.00
R7155:Gck UTSW 11 5,899,705 (GRCm39) start gained probably benign
R7548:Gck UTSW 11 5,852,040 (GRCm39) missense
R8891:Gck UTSW 11 5,851,733 (GRCm39) missense probably damaging 1.00
R9100:Gck UTSW 11 5,856,516 (GRCm39) missense probably damaging 1.00
R9101:Gck UTSW 11 5,856,516 (GRCm39) missense probably damaging 1.00
R9102:Gck UTSW 11 5,856,516 (GRCm39) missense probably damaging 1.00
R9116:Gck UTSW 11 5,854,377 (GRCm39) missense possibly damaging 0.71
R9370:Gck UTSW 11 5,852,244 (GRCm39) missense possibly damaging 0.78
R9420:Gck UTSW 11 5,899,553 (GRCm39) critical splice donor site probably null
R9536:Gck UTSW 11 5,852,307 (GRCm39) missense possibly damaging 0.92
Z1176:Gck UTSW 11 5,856,526 (GRCm39) missense probably damaging 1.00
Z1177:Gck UTSW 11 5,860,958 (GRCm39) missense possibly damaging 0.81
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2020-01-23