Incidental Mutation 'IGL02486:Gk'
ID 295429
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gk
Ensembl Gene ENSMUSG00000025059
Gene Name glycerol kinase
Synonyms Gyk, D930012N15Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02486
Quality Score
Status
Chromosome X
Chromosomal Location 84745543-84820425 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 84759274 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 373 (I373F)
Ref Sequence ENSEMBL: ENSMUSP00000120754 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026039] [ENSMUST00000113978] [ENSMUST00000142152] [ENSMUST00000156390]
AlphaFold Q64516
Predicted Effect probably benign
Transcript: ENSMUST00000026039
AA Change: I345F

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000026039
Gene: ENSMUSG00000025059
AA Change: I345F

DomainStartEndE-ValueType
Pfam:FGGY_N 12 266 3.1e-90 PFAM
Pfam:FGGY_C 275 467 5.4e-67 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000113978
AA Change: I351F

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000109611
Gene: ENSMUSG00000025059
AA Change: I351F

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: ENSMUST00000121559
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122950
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124386
Predicted Effect possibly damaging
Transcript: ENSMUST00000142152
AA Change: I373F

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000120754
Gene: ENSMUSG00000025059
AA Change: I373F

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 noncoding transcript
Transcript: ENSMUST00000152221
Predicted Effect probably benign
Transcript: ENSMUST00000156390
AA Change: I345F

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000119564
Gene: ENSMUSG00000025059
AA Change: I345F

DomainStartEndE-ValueType
Pfam:FGGY_N 12 266 3.5e-90 PFAM
Pfam:FGGY_C 275 467 6.1e-67 PFAM
Coding Region Coverage
Validation Efficiency
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010106E10Rik T A X: 111,424,955 (GRCm39) N147K probably benign Het
Abtb3 C A 10: 85,476,419 (GRCm39) P900H probably damaging Het
Bcas1 T C 2: 170,248,318 (GRCm39) D201G probably damaging Het
Bmp1 T A 14: 70,742,216 (GRCm39) D333V possibly damaging Het
Capn6 T C X: 142,587,673 (GRCm39) E535G probably benign Het
Cdin1 T C 2: 115,607,487 (GRCm39) V280A possibly damaging Het
Chac2 T C 11: 30,927,625 (GRCm39) D86G probably damaging Het
Col14a1 T A 15: 55,252,092 (GRCm39) probably benign Het
Daam1 T C 12: 71,993,919 (GRCm39) probably benign Het
Elapor2 T A 5: 9,472,323 (GRCm39) V340E probably benign Het
Eno4 A G 19: 58,934,097 (GRCm39) probably null Het
Fat1 T C 8: 45,478,109 (GRCm39) V2385A probably benign Het
Ffar4 T C 19: 38,102,208 (GRCm39) I281T possibly damaging Het
Flcn C T 11: 59,691,869 (GRCm39) W260* probably null Het
Fry T G 5: 150,414,642 (GRCm39) S496A probably damaging Het
Gpr108 T C 17: 57,542,977 (GRCm39) N528S probably damaging Het
Hey1 T A 3: 8,731,579 (GRCm39) R50W probably damaging Het
Hgf A G 5: 16,807,287 (GRCm39) Y393C probably damaging Het
Hmcn2 A T 2: 31,310,107 (GRCm39) E3260D probably damaging Het
Ift172 A G 5: 31,414,927 (GRCm39) I1365T probably damaging Het
Letmd1 A G 15: 100,372,992 (GRCm39) R31G probably damaging Het
Mak16 T C 8: 31,650,614 (GRCm39) probably benign Het
Mapkapk3 C T 9: 107,166,467 (GRCm39) G26D probably damaging Het
Mphosph8 T C 14: 56,925,844 (GRCm39) V603A possibly damaging Het
Myom1 G T 17: 71,406,939 (GRCm39) probably benign Het
Neb T A 2: 52,172,615 (GRCm39) N1564I possibly damaging Het
Nox1 C T X: 132,993,560 (GRCm39) G433D probably damaging Het
Or11h6 T C 14: 50,880,089 (GRCm39) F111S probably damaging Het
Or2n1b T A 17: 38,460,112 (GRCm39) L211Q probably damaging Het
Or51i2 T C 7: 103,689,617 (GRCm39) S205P probably damaging Het
Or52m1 A T 7: 102,289,627 (GRCm39) H58L probably damaging Het
Rcc2 T C 4: 140,437,673 (GRCm39) W135R probably damaging Het
Rgl2 A G 17: 34,154,954 (GRCm39) I205V probably damaging Het
Robo4 G A 9: 37,319,670 (GRCm39) G640E probably damaging Het
Slc26a5 A G 5: 22,051,323 (GRCm39) F64L probably damaging Het
Slc27a2 A G 2: 126,395,270 (GRCm39) T66A probably benign Het
St18 T C 1: 6,890,307 (GRCm39) S580P probably damaging Het
Syt15 G A 14: 33,944,933 (GRCm39) R160K probably damaging Het
Tmem63b A G 17: 45,984,909 (GRCm39) S200P probably damaging Het
Tnks T A 8: 35,318,352 (GRCm39) N841I probably damaging Het
Tnr G A 1: 159,679,664 (GRCm39) probably null Het
Unc13d A G 11: 115,960,632 (GRCm39) probably benign Het
Usp4 T C 9: 108,228,228 (GRCm39) L74P probably damaging Het
Other mutations in Gk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00482:Gk APN X 84,804,207 (GRCm39) missense possibly damaging 0.95
IGL02514:Gk APN X 84,756,970 (GRCm39) splice site probably benign
R1917:Gk UTSW X 84,804,186 (GRCm39) missense probably damaging 0.99
X0026:Gk UTSW X 84,756,277 (GRCm39) nonsense probably null
Posted On 2015-04-16