Incidental Mutation 'IGL00482:Gk'
ID 3114
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 # IGL00482
Quality Score
Status
Chromosome X
Chromosomal Location 84745543-84820425 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84804207 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 78 (L78P)
Ref Sequence ENSEMBL: ENSMUSP00000120754 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026039] [ENSMUST00000113978] [ENSMUST00000142152] [ENSMUST00000156390]
AlphaFold Q64516
Predicted Effect possibly damaging
Transcript: ENSMUST00000026039
AA Change: L78P

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000026039
Gene: ENSMUSG00000025059
AA Change: L78P

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: L78P

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000109611
Gene: ENSMUSG00000025059
AA Change: L78P

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 possibly damaging
Transcript: ENSMUST00000142152
AA Change: L78P

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000120754
Gene: ENSMUSG00000025059
AA Change: L78P

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 possibly damaging
Transcript: ENSMUST00000156390
AA Change: L78P

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000119564
Gene: ENSMUSG00000025059
AA Change: L78P

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A G 5: 114,338,350 (GRCm39) T722A probably damaging Het
Akr1b10 G T 6: 34,365,837 (GRCm39) probably benign Het
Amy1 G T 3: 113,349,781 (GRCm39) T463K probably damaging Het
Arid4b T C 13: 14,365,719 (GRCm39) probably benign Het
Arl2 A G 19: 6,191,082 (GRCm39) L17P probably damaging Het
C2cd2 T C 16: 97,671,420 (GRCm39) E493G probably damaging Het
Cdk19 A G 10: 40,345,644 (GRCm39) E239G possibly damaging Het
Cit A G 5: 116,076,814 (GRCm39) D719G probably damaging Het
Commd3 T C 2: 18,678,739 (GRCm39) V58A possibly damaging Het
Cyp2c29 A C 19: 39,313,467 (GRCm39) D360A probably damaging Het
Eps8 A G 6: 137,482,477 (GRCm39) Y492H probably benign Het
Gm5884 A T 6: 128,623,166 (GRCm39) noncoding transcript Het
Lat2 A T 5: 134,635,630 (GRCm39) probably null Het
Lrrc4c C A 2: 97,460,730 (GRCm39) S452* probably null Het
Ntsr2 T C 12: 16,709,849 (GRCm39) C377R probably damaging Het
Padi3 A C 4: 140,530,935 (GRCm39) M29R possibly damaging Het
Pcdh9 A G 14: 93,564,130 (GRCm39) S1067P probably damaging Het
Prrc2a T C 17: 35,373,959 (GRCm39) D1462G probably damaging Het
Rassf4 A G 6: 116,622,089 (GRCm39) F168L possibly damaging Het
Serpinb1c T C 13: 33,067,958 (GRCm39) K213E probably damaging Het
Siglec1 C T 2: 130,921,245 (GRCm39) R642Q probably benign Het
Snrnp200 T G 2: 127,072,055 (GRCm39) V1214G possibly damaging Het
Sorcs3 G A 19: 48,592,303 (GRCm39) G323S probably benign Het
Spidr A G 16: 15,932,833 (GRCm39) V149A possibly damaging Het
Stat4 A T 1: 52,113,856 (GRCm39) I189F probably benign Het
Tep1 T C 14: 51,080,641 (GRCm39) Y1387C probably damaging Het
Tmprss9 G A 10: 80,730,262 (GRCm39) probably null Het
Other mutations in Gk
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2012-04-20