Incidental Mutation 'R7155:Gck'
ID 557232
Institutional Source Beutler Lab
Gene Symbol Gck
Ensembl Gene ENSMUSG00000041798
Gene Name glucokinase
Synonyms Gls006, hexokinase 4, HK4, MODY2, Hlb62
MMRRC Submission 045226-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7155 (G1)
Quality Score 145.008
Status Not validated
Chromosome 11
Chromosomal Location 5850820-5900081 bp(-) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) G to A at 5899705 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000099984 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102920]
AlphaFold P52792
Predicted Effect probably benign
Transcript: ENSMUST00000102920
SMART Domains Protein: ENSMUSP00000099984
Gene: ENSMUSG00000041798

DomainStartEndE-ValueType
Pfam:Hexokinase_1 10 217 4.3e-80 PFAM
Pfam:Hexokinase_2 219 458 1.3e-100 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik A G 2: 151,315,489 (GRCm39) L63P possibly damaging Het
Abca13 A T 11: 9,479,010 (GRCm39) Y4286F probably benign Het
Aldh5a1 A C 13: 25,095,572 (GRCm39) V515G possibly damaging Het
Ankrd42 T C 7: 92,241,141 (GRCm39) E406G possibly damaging Het
Arfgef2 T A 2: 166,707,733 (GRCm39) M1043K probably benign Het
Arhgef11 T A 3: 87,616,879 (GRCm39) Y383* probably null Het
Aste1 C T 9: 105,282,335 (GRCm39) P614L probably damaging Het
B3galt5 T A 16: 96,117,005 (GRCm39) S213T probably damaging Het
Bak1 A G 17: 27,241,434 (GRCm39) L108P possibly damaging Het
Bcl6 G A 16: 23,784,976 (GRCm39) R675* probably null Het
Bdp1 T G 13: 100,197,659 (GRCm39) T909P possibly damaging Het
Cacna1i A G 15: 80,279,439 (GRCm39) H2060R probably benign Het
Cdhr3 G T 12: 33,111,772 (GRCm39) P246Q probably damaging Het
Colgalt1 T C 8: 72,076,354 (GRCm39) S602P probably damaging Het
Csde1 T C 3: 102,947,269 (GRCm39) S74P probably damaging Het
Cyp51 A T 5: 4,137,846 (GRCm39) C366S possibly damaging Het
Dcaf7 A G 11: 105,928,016 (GRCm39) N23D probably damaging Het
Ddx10 G A 9: 53,028,588 (GRCm39) A772V probably benign Het
Ddx4 A G 13: 112,750,319 (GRCm39) F404S probably benign Het
Dlg4 T A 11: 69,908,042 (GRCm39) M1K probably null Het
Dnajc6 T C 4: 101,470,142 (GRCm39) V293A probably damaging Het
Etl4 G T 2: 20,811,742 (GRCm39) R1643L probably damaging Het
F13b G A 1: 139,435,895 (GRCm39) E234K probably damaging Het
Fam171a1 T C 2: 3,226,766 (GRCm39) I633T probably benign Het
Frem3 A G 8: 81,342,668 (GRCm39) I1654V probably benign Het
Galr2 A G 11: 116,174,408 (GRCm39) E346G possibly damaging Het
Gen1 G T 12: 11,291,833 (GRCm39) T717K probably benign Het
Gpatch8 TTCCTCCTCCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC 11: 102,371,014 (GRCm39) probably benign Het
Hat1 A G 2: 71,251,595 (GRCm39) T215A possibly damaging Het
Hmbox1 A T 14: 65,134,486 (GRCm39) M38K probably damaging Het
Ifi47 A G 11: 48,987,369 (GRCm39) K379E probably benign Het
Ift81 T C 5: 122,707,062 (GRCm39) Y460C probably damaging Het
Jarid2 T A 13: 45,055,938 (GRCm39) S381R probably damaging Het
Kmt2b A T 7: 30,279,388 (GRCm39) V1458E probably damaging Het
Kpna4 G T 3: 68,997,266 (GRCm39) P336Q probably damaging Het
Krt84 T C 15: 101,440,689 (GRCm39) R168G probably damaging Het
Lhx8 T A 3: 154,030,221 (GRCm39) Y137F possibly damaging Het
Lin7b T C 7: 45,019,651 (GRCm39) E19G probably damaging Het
Lrmda A T 14: 22,634,608 (GRCm39) R131S probably damaging Het
Lrrc75b C T 10: 75,389,512 (GRCm39) A280T possibly damaging Het
Megf11 G A 9: 64,555,233 (GRCm39) R268K probably null Het
Mgat4e G T 1: 134,469,697 (GRCm39) Q116K probably damaging Het
Mlkl A G 8: 112,046,035 (GRCm39) L325P probably damaging Het
Mup2 A G 4: 60,137,641 (GRCm39) L134P probably damaging Het
Myo19 A G 11: 84,791,412 (GRCm39) E489G probably damaging Het
Ncbp3 C A 11: 72,938,835 (GRCm39) P37Q probably damaging Het
Nf2 A G 11: 4,749,964 (GRCm39) V236A probably damaging Het
Nlrp1a A T 11: 71,014,905 (GRCm39) M115K possibly damaging Het
Nsf T A 11: 103,719,356 (GRCm39) K649* probably null Het
Olfml2b A T 1: 170,494,354 (GRCm39) I313L probably benign Het
Or2ak4 T A 11: 58,649,109 (GRCm39) I206N probably damaging Het
Or52u1 T A 7: 104,237,764 (GRCm39) V251D possibly damaging Het
Papln T A 12: 83,823,295 (GRCm39) L444Q probably damaging Het
Phc3 T C 3: 30,968,346 (GRCm39) I897V probably benign Het
Plcg1 T C 2: 160,596,300 (GRCm39) L632P probably damaging Het
Pramel21 A T 4: 143,342,735 (GRCm39) I281F probably benign Het
Prkg1 T C 19: 31,279,701 (GRCm39) T178A probably damaging Het
Ptges T A 2: 30,782,816 (GRCm39) T79S probably benign Het
Rab26 T C 17: 24,751,263 (GRCm39) T81A probably damaging Het
Rai14 T A 15: 10,595,089 (GRCm39) I145L possibly damaging Het
Rasgrf1 A G 9: 89,884,414 (GRCm39) T960A possibly damaging Het
Rfx1 A T 8: 84,821,455 (GRCm39) I755F probably damaging Het
Rims1 T G 1: 22,503,174 (GRCm39) L670F probably damaging Het
Rtkn G A 6: 83,126,692 (GRCm39) C297Y probably damaging Het
Sec23a A T 12: 59,036,229 (GRCm39) N378K probably benign Het
Slc1a2 T C 2: 102,597,340 (GRCm39) M449T probably damaging Het
Slc22a3 G A 17: 12,652,518 (GRCm39) L369F possibly damaging Het
Slc34a1 A G 13: 24,006,390 (GRCm39) E472G probably benign Het
Slc49a4 G T 16: 35,555,947 (GRCm39) T171K probably benign Het
Smad6 G T 9: 63,929,069 (GRCm39) D82E unknown Het
Smgc A T 15: 91,736,811 (GRCm39) I463F possibly damaging Het
Strada C A 11: 106,061,865 (GRCm39) G166C probably damaging Het
Tcaf3 A G 6: 42,570,825 (GRCm39) V309A probably benign Het
Tet2 C T 3: 133,175,352 (GRCm39) E1332K possibly damaging Het
Tfcp2l1 A G 1: 118,596,362 (GRCm39) N366D probably damaging Het
Tll2 G A 19: 41,105,723 (GRCm39) P369L possibly damaging Het
Tox4 T C 14: 52,529,554 (GRCm39) V505A probably benign Het
Trbv4 A G 6: 41,036,787 (GRCm39) D104G probably damaging Het
Ugdh T C 5: 65,574,380 (GRCm39) E416G probably damaging Het
Usp47 T A 7: 111,686,220 (GRCm39) C613S probably damaging Het
Vmn1r11 T A 6: 57,115,147 (GRCm39) N270K probably benign Het
Wsb2 T A 5: 117,509,160 (GRCm39) L147Q probably damaging Het
Xrn1 G A 9: 95,861,198 (GRCm39) A453T possibly damaging Het
Zan A G 5: 137,460,106 (GRCm39) S1262P unknown Het
Zswim4 A G 8: 84,946,556 (GRCm39) L700P probably damaging 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
R7548:Gck UTSW 11 5,852,040 (GRCm39) missense
R8039:Gck UTSW 11 5,860,301 (GRCm39) missense probably benign 0.12
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
(F):5'- TGTTGGGGACATGCAAACAG -3'
(R):5'- TGTGCTGAGTCCGTCTAGAG -3'

Sequencing Primer
(F):5'- TTGGGGACATGCAAACAGATACTTC -3'
(R):5'- GTTCCTCACAGCTCAGCAGAG -3'
Posted On 2019-06-26