Incidental Mutation 'R0139:Gck'
ID 22197
Institutional Source Beutler Lab
Gene Symbol Gck
Ensembl Gene ENSMUSG00000041798
Gene Name glucokinase
Synonyms Gls006, hexokinase 4, HK4, MODY2, Hlb62
MMRRC Submission 038424-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0139 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 11
Chromosomal Location 5850820-5900081 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 5859139 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 143 (K143*)
Ref Sequence ENSEMBL: ENSMUSP00000105448 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102920] [ENSMUST00000109822] [ENSMUST00000109823]
AlphaFold P52792
Predicted Effect probably null
Transcript: ENSMUST00000102920
AA Change: K143*
SMART Domains Protein: ENSMUSP00000099984
Gene: ENSMUSG00000041798
AA Change: K143*

DomainStartEndE-ValueType
Pfam:Hexokinase_1 10 217 4.3e-80 PFAM
Pfam:Hexokinase_2 219 458 1.3e-100 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000109822
AA Change: K143*
SMART Domains Protein: ENSMUSP00000105447
Gene: ENSMUSG00000041798
AA Change: K143*

DomainStartEndE-ValueType
Pfam:Hexokinase_1 10 217 1e-79 PFAM
Pfam:Hexokinase_2 219 458 7.8e-101 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000109823
AA Change: K143*
SMART Domains Protein: ENSMUSP00000105448
Gene: ENSMUSG00000041798
AA Change: K143*

DomainStartEndE-ValueType
Pfam:Hexokinase_1 15 216 1.9e-74 PFAM
Pfam:Hexokinase_2 221 455 2.2e-79 PFAM
Meta Mutation Damage Score 0.9754 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.9%
  • 20x: 91.2%
Validation Efficiency 97% (89/92)
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
A230072I06Rik C T 8: 12,329,899 (GRCm39) S118L unknown Het
Adprs A G 4: 126,211,947 (GRCm39) Y122H probably damaging Het
Ankrd52 T C 10: 128,222,007 (GRCm39) S544P probably benign Het
Aopep A G 13: 63,338,298 (GRCm39) N558S probably benign Het
Arhgef7 A G 8: 11,850,503 (GRCm39) E111G probably damaging Het
Atp11a A G 8: 12,896,054 (GRCm39) M755V probably benign Het
Atp2a2 A G 5: 122,629,778 (GRCm39) I97T probably damaging Het
Bmp3 G A 5: 99,027,768 (GRCm39) D463N possibly damaging Het
Cacna2d4 T C 6: 119,255,230 (GRCm39) probably benign Het
Ccdc28a G A 10: 18,106,188 (GRCm39) S46F possibly damaging Het
Ccdc40 G A 11: 119,155,125 (GRCm39) G1122S probably benign Het
Cenpw T G 10: 30,076,455 (GRCm39) T8P probably benign Het
Cfap44 G C 16: 44,253,785 (GRCm39) G893R possibly damaging Het
Cimap3 A T 3: 105,906,886 (GRCm39) M171K possibly damaging Het
Cops7a A T 6: 124,938,323 (GRCm39) C110S probably damaging Het
Cstl1 A G 2: 148,597,245 (GRCm39) N134S probably damaging Het
Cyp2s1 G T 7: 25,511,114 (GRCm39) probably null Het
Dio2 T A 12: 90,696,617 (GRCm39) N124Y probably damaging Het
Ecel1 C A 1: 87,082,248 (GRCm39) G155V possibly damaging Het
Efr3a G T 15: 65,717,830 (GRCm39) V337F possibly damaging Het
Eva1b A C 4: 126,043,446 (GRCm39) H162P probably damaging Het
Exoc5 C T 14: 49,273,493 (GRCm39) E301K probably damaging Het
F13b G A 1: 139,435,941 (GRCm39) S249N probably damaging Het
Fam120b C T 17: 15,646,446 (GRCm39) probably benign Het
Gbf1 T C 19: 46,250,231 (GRCm39) L396S probably damaging Het
Glt8d2 T C 10: 82,496,644 (GRCm39) N138S probably damaging Het
Gm4884 T C 7: 40,692,387 (GRCm39) F119L probably benign Het
Igsf11 T C 16: 38,829,240 (GRCm39) S45P probably damaging Het
Iho1 T C 9: 108,289,695 (GRCm39) T176A probably damaging Het
Il10 G A 1: 130,950,271 (GRCm39) V142M probably damaging Het
Insc A T 7: 114,368,237 (GRCm39) H9L probably damaging Het
Iqsec1 G T 6: 90,786,740 (GRCm39) probably benign Het
Katnb1 A G 8: 95,825,050 (GRCm39) S611G possibly damaging Het
Kcnb1 A G 2: 166,947,459 (GRCm39) I463T possibly damaging Het
Lao1 A G 4: 118,821,399 (GRCm39) N90S probably benign Het
Med16 T A 10: 79,732,635 (GRCm39) M710L probably benign Het
Mroh2a G C 1: 88,185,524 (GRCm39) E1510D probably damaging Het
Mtus1 G A 8: 41,469,233 (GRCm39) probably benign Het
Mybpc3 A G 2: 90,950,682 (GRCm39) probably benign Het
Ndor1 C T 2: 25,138,366 (GRCm39) V405M possibly damaging Het
Nell2 A G 15: 95,330,782 (GRCm39) V213A probably benign Het
Nme8 T C 13: 19,862,018 (GRCm39) I204V probably benign Het
Nup133 A T 8: 124,656,082 (GRCm39) N466K probably benign Het
Nxt1 A G 2: 148,517,390 (GRCm39) T44A probably benign Het
Or14c46 T C 7: 85,918,187 (GRCm39) E270G probably benign Het
Or2ag15 A T 7: 106,340,832 (GRCm39) I103N probably benign Het
Or2y12 C T 11: 49,426,401 (GRCm39) L130F probably benign Het
Or4e1 T C 14: 52,700,669 (GRCm39) T239A probably damaging Het
Or4f7 A T 2: 111,644,699 (GRCm39) I124K possibly damaging Het
Or7e168 C T 9: 19,720,165 (GRCm39) L184F probably damaging Het
Pced1a T C 2: 130,263,827 (GRCm39) K275R probably benign Het
Pdcd11 A G 19: 47,099,398 (GRCm39) probably null Het
Phldb2 A C 16: 45,591,029 (GRCm39) probably benign Het
Piwil1 C A 5: 128,824,387 (GRCm39) S490Y probably damaging Het
Plekhh3 T C 11: 101,054,501 (GRCm39) probably benign Het
Ppargc1b A T 18: 61,449,034 (GRCm39) probably benign Het
Psg19 C T 7: 18,530,942 (GRCm39) V71I possibly damaging Het
Ptk6 T C 2: 180,838,724 (GRCm39) probably benign Het
Pus7 A G 5: 23,983,090 (GRCm39) S126P probably damaging Het
Rab6b T A 9: 103,017,576 (GRCm39) probably null Het
Ranbp3 G A 17: 57,016,272 (GRCm39) R347Q possibly damaging Het
Sanbr A T 11: 23,570,214 (GRCm39) probably benign Het
Sbf1 A T 15: 89,186,701 (GRCm39) L866Q probably damaging Het
Slc25a34 A G 4: 141,349,663 (GRCm39) V164A possibly damaging Het
Smg1 A G 7: 117,751,898 (GRCm39) probably null Het
Spin1 G T 13: 51,303,048 (GRCm39) V214L probably benign Het
Spmip2 A T 3: 79,313,142 (GRCm39) Y72F probably damaging Het
Sptbn1 T C 11: 30,092,289 (GRCm39) N492S probably benign Het
Stk-ps2 A G 1: 46,068,955 (GRCm39) noncoding transcript Het
Taar7f T C 10: 23,926,312 (GRCm39) I302T probably benign Het
Tdrd1 C A 19: 56,831,630 (GRCm39) H340Q probably benign Het
Thumpd3 A G 6: 113,044,762 (GRCm39) D498G probably benign Het
Tpgs2 A G 18: 25,282,242 (GRCm39) L103P probably damaging Het
Trip10 A G 17: 57,568,633 (GRCm39) probably null Het
Trip6 A T 5: 137,310,436 (GRCm39) H269Q probably benign Het
Trmt12 T C 15: 58,744,743 (GRCm39) V47A possibly damaging Het
Trpm7 A T 2: 126,654,691 (GRCm39) S1416T probably benign Het
Tsks G A 7: 44,603,883 (GRCm39) A438T probably benign Het
Ttn T C 2: 76,727,630 (GRCm39) probably benign Het
Twf2 G A 9: 106,090,155 (GRCm39) V136M possibly damaging Het
Uty A C Y: 1,197,223 (GRCm39) Y115D probably damaging Het
Vcan A G 13: 89,839,380 (GRCm39) S2055P probably damaging Het
Yes1 A G 5: 32,842,039 (GRCm39) Q521R possibly damaging Het
Zfp114 A T 7: 23,880,685 (GRCm39) T344S possibly damaging Het
Zfp661 A T 2: 127,420,532 (GRCm39) V89D possibly damaging Het
Zfp91 A T 19: 12,747,834 (GRCm39) Y430N 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
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
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'- TCCCACTACAAGCGACTTGCTTAAC -3'
(R):5'- AGCATACAGTTGCCTCCCATTGTC -3'

Sequencing Primer
(F):5'- GTGACCATAGCATGTCTCCTGAG -3'
(R):5'- CCCATTGTCCCTAAGAGTGTG -3'
Posted On 2013-04-16