Incidental Mutation 'R1428:Gykl1'
ID 161421
Institutional Source Beutler Lab
Gene Symbol Gykl1
Ensembl Gene ENSMUSG00000053624
Gene Name glycerol kinase-like 1
Synonyms Gk-rs1
MMRRC Submission 039484-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.359) question?
Stock # R1428 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 52826762-52828622 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 52827833 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Isoleucine at position 347 (K347I)
Ref Sequence ENSEMBL: ENSMUSP00000067598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066193]
AlphaFold Q8C635
Predicted Effect probably benign
Transcript: ENSMUST00000066193
AA Change: K347I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000067598
Gene: ENSMUSG00000053624
AA Change: K347I

Pfam:FGGY_N 12 266 6.8e-90 PFAM
Pfam:FGGY_C 275 467 4.2e-66 PFAM
transmembrane domain 524 546 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 90.2%
Validation Efficiency 98% (56/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the FGGY kinase family. This protein is a key enzyme in the regulation of glycerol uptake and metabolism. It catalyzes the phosphorylation of glycerol by ATP, yielding ADP and glycerol-3-phosphate. Mutations in this gene are associated with glycerol kinase deficiency (GKD). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T C 6: 146,853,909 (GRCm39) I249M possibly damaging Het
Abl1 G T 2: 31,691,822 (GRCm39) A1114S probably damaging Het
Acbd5 T C 2: 22,989,733 (GRCm39) V452A probably damaging Het
Armc12 A G 17: 28,756,910 (GRCm39) D225G probably damaging Het
Atad3a T A 4: 155,840,139 (GRCm39) Q121H probably damaging Het
Atosa A T 9: 74,913,603 (GRCm39) T79S probably benign Het
Bptf T A 11: 106,963,873 (GRCm39) I1711F probably damaging Het
C2cd4c A T 10: 79,448,064 (GRCm39) I361N probably damaging Het
Canx A G 11: 50,199,221 (GRCm39) probably benign Het
Ccdc127 C T 13: 74,505,034 (GRCm39) T194I probably benign Het
Cdc42ep3 T C 17: 79,642,465 (GRCm39) K152E probably benign Het
Cdh15 G C 8: 123,584,234 (GRCm39) E112Q probably damaging Het
Cnbd2 T C 2: 156,181,204 (GRCm39) probably null Het
Cplane1 T A 15: 8,248,853 (GRCm39) Y1801N possibly damaging Het
Crybg1 T C 10: 43,851,074 (GRCm39) N1599S probably benign Het
Cyc1 T C 15: 76,228,548 (GRCm39) V59A probably benign Het
Cyp2j11 T C 4: 96,183,117 (GRCm39) K484E probably benign Het
Ddx60 T C 8: 62,411,193 (GRCm39) probably benign Het
Epg5 T C 18: 78,005,642 (GRCm39) S711P probably damaging Het
Espl1 A T 15: 102,214,120 (GRCm39) Q649L probably benign Het
Eya1 G A 1: 14,374,638 (GRCm39) probably benign Het
Fat2 T A 11: 55,186,913 (GRCm39) Y1311F probably damaging Het
Garin5b T A 7: 4,760,687 (GRCm39) H675L possibly damaging Het
Gins4 T C 8: 23,717,144 (GRCm39) Y208C probably damaging Het
Gsk3b T C 16: 37,910,937 (GRCm39) V17A probably benign Het
Helz T A 11: 107,483,666 (GRCm39) probably benign Het
Hivep3 C T 4: 119,953,772 (GRCm39) T696I possibly damaging Het
Ifi27l2a G T 12: 103,409,093 (GRCm39) probably benign Het
Kif13a A G 13: 46,944,987 (GRCm39) probably benign Het
Kpna3 C T 14: 61,620,669 (GRCm39) probably benign Het
Mmp15 C G 8: 96,096,190 (GRCm39) P327R probably benign Het
Mrc1 A T 2: 14,320,074 (GRCm39) T1003S probably benign Het
Mtss1 T C 15: 58,819,239 (GRCm39) D393G probably benign Het
Olfm4 T A 14: 80,258,843 (GRCm39) Y331N probably damaging Het
Or10a49 T A 7: 108,468,167 (GRCm39) N65Y probably damaging Het
Or4c12b G C 2: 89,646,725 (GRCm39) L12F probably damaging Het
P2rx3 G C 2: 84,855,294 (GRCm39) T54R possibly damaging Het
Pacsin1 C T 17: 27,924,937 (GRCm39) T217I probably damaging Het
Phlpp1 A G 1: 106,308,155 (GRCm39) probably null Het
Pknox1 T C 17: 31,811,066 (GRCm39) probably benign Het
Plb1 A G 5: 32,422,256 (GRCm39) R70G possibly damaging Het
Rab3gap2 G A 1: 184,980,101 (GRCm39) A340T probably damaging Het
Rnf103 T A 6: 71,485,983 (GRCm39) W205R probably damaging Het
Rps6kc1 G A 1: 190,530,923 (GRCm39) T936M probably damaging Het
Spef2 T C 15: 9,596,793 (GRCm39) probably benign Het
Sstr4 A G 2: 148,238,279 (GRCm39) S297G probably benign Het
Timm8a1 C T X: 133,438,872 (GRCm39) E93K probably benign Het
Uck1 A C 2: 32,148,367 (GRCm39) Y150D probably damaging Het
Yipf4 A G 17: 74,805,300 (GRCm39) probably benign Het
Other mutations in Gykl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01348:Gykl1 APN 18 52,827,808 (GRCm39) missense possibly damaging 0.94
IGL02694:Gykl1 APN 18 52,827,257 (GRCm39) missense probably benign 0.00
R0689:Gykl1 UTSW 18 52,827,123 (GRCm39) missense possibly damaging 0.90
R0856:Gykl1 UTSW 18 52,828,441 (GRCm39) makesense probably null
R0908:Gykl1 UTSW 18 52,828,441 (GRCm39) makesense probably null
R2229:Gykl1 UTSW 18 52,828,339 (GRCm39) missense probably benign 0.00
R5307:Gykl1 UTSW 18 52,827,723 (GRCm39) missense possibly damaging 0.67
R5696:Gykl1 UTSW 18 52,827,267 (GRCm39) missense probably benign 0.02
R6278:Gykl1 UTSW 18 52,828,280 (GRCm39) missense probably benign 0.06
R8804:Gykl1 UTSW 18 52,827,608 (GRCm39) missense probably benign 0.00
RF040:Gykl1 UTSW 18 52,827,488 (GRCm39) missense probably benign 0.06
RF041:Gykl1 UTSW 18 52,827,488 (GRCm39) missense probably benign 0.06
RF042:Gykl1 UTSW 18 52,827,488 (GRCm39) missense probably benign 0.06
RF044:Gykl1 UTSW 18 52,827,488 (GRCm39) missense probably benign 0.06
Z1088:Gykl1 UTSW 18 52,827,237 (GRCm39) nonsense probably null
Z1176:Gykl1 UTSW 18 52,827,619 (GRCm39) missense probably damaging 1.00
Z1177:Gykl1 UTSW 18 52,828,204 (GRCm39) missense possibly damaging 0.81
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-03-14