Incidental Mutation 'R1917:Gk'
ID 212664
Institutional Source Beutler Lab
Gene Symbol Gk
Ensembl Gene ENSMUSG00000025059
Gene Name glycerol kinase
Synonyms Gyk, D930012N15Rik
MMRRC Submission 039935-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1917 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 84745543-84820425 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84804186 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 85 (I85T)
Ref Sequence ENSEMBL: ENSMUSP00000119564 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026039] [ENSMUST00000113978] [ENSMUST00000142152] [ENSMUST00000156390]
AlphaFold Q64516
Predicted Effect probably damaging
Transcript: ENSMUST00000026039
AA Change: I85T

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000026039
Gene: ENSMUSG00000025059
AA Change: I85T

DomainStartEndE-ValueType
Pfam:FGGY_N 12 266 3.1e-90 PFAM
Pfam:FGGY_C 275 467 5.4e-67 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113978
AA Change: I85T

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000109611
Gene: ENSMUSG00000025059
AA Change: I85T

DomainStartEndE-ValueType
Pfam:FGGY_N 12 272 3.8e-98 PFAM
Pfam:FGGY_C 281 473 4.2e-67 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125081
Predicted Effect probably damaging
Transcript: ENSMUST00000142152
AA Change: I85T

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000120754
Gene: ENSMUSG00000025059
AA Change: I85T

DomainStartEndE-ValueType
Pfam:FGGY_N 12 115 8.5e-35 PFAM
Pfam:FGGY_N 137 294 5.3e-50 PFAM
Pfam:FGGY_C 303 495 6.7e-68 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000156390
AA Change: I85T

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000119564
Gene: ENSMUSG00000025059
AA Change: I85T

DomainStartEndE-ValueType
Pfam:FGGY_N 12 266 3.5e-90 PFAM
Pfam:FGGY_C 275 467 6.1e-67 PFAM
Meta Mutation Damage Score 0.9170 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.8%
  • 20x: 93.6%
Validation Efficiency 100% (83/83)
MGI Phenotype PHENOTYPE: Males hemizygous for a targeted null mutation show postnatal growth retardation, altered fat metabolism with severe hyperglycerolemia and increased free fatty acids, autonomous glucocorticoid synthesis and death by 4 days of age. Female heterozygotes show reduced free fatty acid and glucose levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A G 11: 109,982,341 (GRCm39) probably benign Het
Adgre5 A G 8: 84,455,738 (GRCm39) V190A probably damaging Het
Akap6 A G 12: 53,151,395 (GRCm39) N1153S probably benign Het
Aldh1a7 G A 19: 20,704,819 (GRCm39) H20Y probably benign Het
B430306N03Rik A G 17: 48,631,176 (GRCm39) E278G probably benign Het
Cacna1b C A 2: 24,506,891 (GRCm39) R72L probably null Het
Cc2d2a C G 5: 43,863,564 (GRCm39) S675R probably damaging Het
Ccdc88b T A 19: 6,826,594 (GRCm39) E1040D probably damaging Het
Cmtm7 A G 9: 114,592,432 (GRCm39) V55A probably damaging Het
Coq4 A C 2: 29,679,938 (GRCm39) T77P probably damaging Het
Cyp2j11 C A 4: 96,228,211 (GRCm39) W136L probably damaging Het
Dctn2 T A 10: 127,110,918 (GRCm39) Y86* probably null Het
Ddx56 A G 11: 6,213,937 (GRCm39) probably null Het
Dop1b T C 16: 93,513,150 (GRCm39) S30P probably damaging Het
Ep400 T C 5: 110,851,441 (GRCm39) K1347R unknown Het
Fat3 T A 9: 15,908,353 (GRCm39) T2550S possibly damaging Het
Fcrla G T 1: 170,755,095 (GRCm39) C5* probably null Het
Fem1al A G 11: 29,774,039 (GRCm39) S473P probably benign Het
Fermt1 T A 2: 132,764,762 (GRCm39) D365V probably damaging Het
Fhod3 A G 18: 25,123,022 (GRCm39) probably benign Het
Fhod3 A G 18: 25,218,658 (GRCm39) D807G probably benign Het
Fnip1 C T 11: 54,371,510 (GRCm39) T177I probably damaging Het
Gart T C 16: 91,425,037 (GRCm39) Y662C probably damaging Het
Gda A T 19: 21,375,004 (GRCm39) probably benign Het
Gm3476 A G 14: 6,118,358 (GRCm38) L255P possibly damaging Het
Gm9966 T C 7: 95,607,684 (GRCm39) C2R unknown Het
Gnpda1 T C 18: 38,466,243 (GRCm39) probably null Het
Gtf2h4 G A 17: 35,981,090 (GRCm39) L246F possibly damaging Het
Hao1 A T 2: 134,364,980 (GRCm39) S216T probably benign Het
Hnrnpr C A 4: 136,059,799 (GRCm39) S301* probably null Het
Hsd3b2 A G 3: 98,619,342 (GRCm39) I201T probably benign Het
Jade2 T C 11: 51,709,365 (GRCm39) E548G possibly damaging Het
Katnbl1 T C 2: 112,239,524 (GRCm39) I241T probably benign Het
Keap1 G T 9: 21,145,102 (GRCm39) Q299K probably benign Het
Kif1a T C 1: 92,946,753 (GRCm39) I1650V possibly damaging Het
Lrba G A 3: 86,571,808 (GRCm39) G275R probably damaging Het
Map3k9 C A 12: 81,827,564 (GRCm39) E29* probably null Het
Mat1a G A 14: 40,843,394 (GRCm39) V307I probably damaging Het
Mcm2 A T 6: 88,868,785 (GRCm39) M324K possibly damaging Het
Metap1d T C 2: 71,341,871 (GRCm39) V155A probably damaging Het
Mtbp A G 15: 55,428,073 (GRCm39) probably benign Het
Myh14 T C 7: 44,307,349 (GRCm39) T231A probably benign Het
Mylk4 A T 13: 32,908,836 (GRCm39) D90E probably benign Het
Myo15b T A 11: 115,773,080 (GRCm39) I1837K possibly damaging Het
Myo3a T A 2: 22,296,733 (GRCm39) H242Q probably damaging Het
Nxn A G 11: 76,152,498 (GRCm39) probably benign Het
Or6c2 T A 10: 129,362,918 (GRCm39) V274D probably damaging Het
Pak3 C A X: 142,574,298 (GRCm39) A553E possibly damaging Het
Pdia2 T A 17: 26,417,079 (GRCm39) T122S possibly damaging Het
Pira12 C T 7: 3,900,637 (GRCm39) V38M probably damaging Het
Plod2 A G 9: 92,463,310 (GRCm39) T132A probably benign Het
Ptprz1 T A 6: 23,035,039 (GRCm39) probably benign Het
Rad54b A C 4: 11,601,693 (GRCm39) N416T probably damaging Het
Recql4 A T 15: 76,588,037 (GRCm39) Y1142* probably null Het
Rnf216 A G 5: 142,978,561 (GRCm39) V859A probably benign Het
Scnm1 G T 3: 95,037,584 (GRCm39) P161T possibly damaging Het
Serpinb6b A G 13: 33,162,223 (GRCm39) I222V probably benign Het
Serpinf1 A G 11: 75,301,833 (GRCm39) I274T possibly damaging Het
Slc28a1 T C 7: 80,819,334 (GRCm39) F641L probably benign Het
Slc8a2 A G 7: 15,886,845 (GRCm39) I657V probably benign Het
Smchd1 A G 17: 71,714,232 (GRCm39) I877T possibly damaging Het
Spata31 T C 13: 65,068,679 (GRCm39) Y276H possibly damaging Het
Spire2 A G 8: 124,089,810 (GRCm39) D447G probably benign Het
Stk3 G A 15: 35,073,363 (GRCm39) T119I probably damaging Het
Stxbp5 C A 10: 9,688,042 (GRCm39) V420F possibly damaging Het
Sult2a5 T C 7: 13,404,609 (GRCm39) F282S probably damaging Het
Syk A T 13: 52,776,744 (GRCm39) D248V probably damaging Het
Thoc6 C T 17: 23,888,364 (GRCm39) probably benign Het
Timd5 A G 11: 46,419,358 (GRCm39) D58G possibly damaging Het
Tll2 T A 19: 41,116,936 (GRCm39) D293V possibly damaging Het
Umodl1 G A 17: 31,203,017 (GRCm39) V457M probably damaging Het
Usp19 T A 9: 108,376,524 (GRCm39) C689* probably null Het
Usp24 T G 4: 106,267,483 (GRCm39) V1955G probably damaging Het
Vmn1r226 T C 17: 20,907,842 (GRCm39) S25P probably damaging Het
Vmn2r69 C T 7: 85,060,891 (GRCm39) C231Y probably damaging Het
Wdr73 C T 7: 80,543,081 (GRCm39) D176N probably benign Het
Wnt7b T A 15: 85,443,281 (GRCm39) I41F probably damaging Het
Zfhx3 T C 8: 109,682,880 (GRCm39) S3440P unknown Het
Zfp52 T G 17: 21,780,426 (GRCm39) N91K probably benign Het
Zfp930 C A 8: 69,681,357 (GRCm39) Q350K probably benign Het
Zfp949 T C 9: 88,452,115 (GRCm39) S562P probably damaging Het
Other mutations in Gk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00482:Gk APN X 84,804,207 (GRCm39) missense possibly damaging 0.95
IGL02486:Gk APN X 84,759,274 (GRCm39) missense possibly damaging 0.90
IGL02514:Gk APN X 84,756,970 (GRCm39) splice site probably benign
X0026:Gk UTSW X 84,756,277 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGAACGGGAACTGAGAATCTTG -3'
(R):5'- TGAAGTGTGTGAGCCACTGG -3'

Sequencing Primer
(F):5'- ACGGGAACTGAGAATCTTGTTTATTG -3'
(R):5'- TGTGAGCCACTGGTTAATGACC -3'
Posted On 2014-07-14