Incidental Mutation 'R0689:Gykl1'
ID 61305
Institutional Source Beutler Lab
Gene Symbol Gykl1
Ensembl Gene ENSMUSG00000053624
Gene Name glycerol kinase-like 1
Synonyms Gk-rs1
MMRRC Submission 038874-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.359) question?
Stock # R0689 (G1)
Quality Score 87
Status Validated
Chromosome 18
Chromosomal Location 52826762-52828622 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 52827123 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 110 (N110K)
Ref Sequence ENSEMBL: ENSMUSP00000067598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066193]
AlphaFold Q8C635
Predicted Effect possibly damaging
Transcript: ENSMUST00000066193
AA Change: N110K

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000067598
Gene: ENSMUSG00000053624
AA Change: N110K

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 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.4%
  • 20x: 91.1%
Validation Efficiency 99% (80/81)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn4 C A 7: 28,596,474 (GRCm39) G674W probably damaging Het
Adcy9 A G 16: 4,130,668 (GRCm39) probably benign Het
Adgrv1 C T 13: 81,623,224 (GRCm39) V3800I possibly damaging Het
Agl A G 3: 116,587,277 (GRCm39) Y93H probably damaging Het
Aldh1a3 T A 7: 66,051,753 (GRCm39) D400V probably benign Het
Bpifc A G 10: 85,796,411 (GRCm39) probably benign Het
Cachd1 G T 4: 100,832,073 (GRCm39) R745L probably damaging Het
Cadm3 T A 1: 173,172,019 (GRCm39) T185S possibly damaging Het
Cep85l G T 10: 53,224,943 (GRCm39) D215E probably damaging Het
Ces1g A G 8: 94,055,035 (GRCm39) S221P probably damaging Het
Cfap206 C T 4: 34,722,668 (GRCm39) V138M probably benign Het
Csmd3 A T 15: 47,619,421 (GRCm39) F1714I probably benign Het
Cyp4f18 A G 8: 72,749,812 (GRCm39) L279P probably benign Het
Dnah7a G A 1: 53,659,840 (GRCm39) Q723* probably null Het
Dnaja2 A G 8: 86,273,347 (GRCm39) probably benign Het
Dnajc6 T C 4: 101,468,450 (GRCm39) V162A possibly damaging Het
Dok4 T C 8: 95,597,547 (GRCm39) T3A probably benign Het
Efcab7 T C 4: 99,761,981 (GRCm39) W424R probably damaging Het
Fah A T 7: 84,242,392 (GRCm39) probably null Het
Fam120a T C 13: 49,121,114 (GRCm39) D64G probably damaging Het
G3bp1 T C 11: 55,389,452 (GRCm39) F383L probably damaging Het
Gas8 T G 8: 124,250,845 (GRCm39) L106R probably damaging Het
Hsd3b3 G T 3: 98,649,295 (GRCm39) L343I possibly damaging Het
Itch T A 2: 155,024,098 (GRCm39) S234T possibly damaging Het
Itgbl1 A T 14: 124,065,259 (GRCm39) I61F possibly damaging Het
Klf6 T A 13: 5,915,115 (GRCm39) S185T probably damaging Het
Klk1b1 A C 7: 43,620,143 (GRCm39) K202T probably benign Het
Liph T C 16: 21,786,818 (GRCm39) Y268C probably damaging Het
Mroh2a C T 1: 88,158,402 (GRCm39) R150* probably null Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Myo9b G A 8: 71,783,400 (GRCm39) D574N probably damaging Het
Nfyb G A 10: 82,590,836 (GRCm39) A65V possibly damaging Het
Nipbl A G 15: 8,322,562 (GRCm39) probably null Het
Olfm3 T A 3: 114,916,194 (GRCm39) N355K probably benign Het
Or4k15c A T 14: 50,321,689 (GRCm39) F150I probably benign Het
Pcdhb21 A G 18: 37,648,370 (GRCm39) T500A probably benign Het
Pclo A G 5: 14,764,033 (GRCm39) I4169V unknown Het
Pde4d T C 13: 109,877,078 (GRCm39) S144P possibly damaging Het
Pgghg T C 7: 140,523,191 (GRCm39) Y157H probably benign Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Pla2g12a T C 3: 129,674,947 (GRCm39) probably null Het
Ppp1r14d T C 2: 119,060,093 (GRCm39) D63G probably damaging Het
Sema6a G A 18: 47,423,112 (GRCm39) probably null Het
Sgip1 A T 4: 102,823,449 (GRCm39) D690V probably damaging Het
Skp1 T C 11: 52,134,592 (GRCm39) probably benign Het
Slc25a12 T C 2: 71,141,837 (GRCm39) Y272C possibly damaging Het
Slc37a2 A G 9: 37,146,846 (GRCm39) probably benign Het
Snx6 A T 12: 54,810,441 (GRCm39) S112T probably benign Het
Sox6 A G 7: 115,085,786 (GRCm39) V685A probably damaging Het
Taf2 A T 15: 54,926,461 (GRCm39) V163E possibly damaging Het
Tg A T 15: 66,711,253 (GRCm39) probably benign Het
Tmem30c A G 16: 57,090,536 (GRCm39) Y224H probably damaging Het
Tmem45b T C 9: 31,339,879 (GRCm39) N173D probably benign Het
Traf5 T C 1: 191,729,837 (GRCm39) T405A probably benign Het
Trerf1 C T 17: 47,630,300 (GRCm39) noncoding transcript Het
Triobp A T 15: 78,844,188 (GRCm39) K135* probably null Het
Ttll9 T A 2: 152,825,047 (GRCm39) D75E probably benign Het
Vmn1r63 T C 7: 5,806,609 (GRCm39) I8V probably benign Het
Vmn2r77 A T 7: 86,460,872 (GRCm39) I733F probably damaging Het
Vmn2r98 T C 17: 19,300,782 (GRCm39) S595P possibly damaging Het
Zcchc2 C T 1: 105,958,234 (GRCm39) Q504* probably null Het
Zfp2 T C 11: 50,791,734 (GRCm39) D103G probably benign Het
Zfp59 A G 7: 27,553,142 (GRCm39) K198R probably benign Het
Zfp64 C A 2: 168,777,121 (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
R0856:Gykl1 UTSW 18 52,828,441 (GRCm39) makesense probably null
R0908:Gykl1 UTSW 18 52,828,441 (GRCm39) makesense probably null
R1428:Gykl1 UTSW 18 52,827,833 (GRCm39) missense probably benign 0.00
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 2013-07-30