Incidental Mutation 'R0908:Gykl1'
ID 83409
Institutional Source Beutler Lab
Gene Symbol Gykl1
Ensembl Gene ENSMUSG00000053624
Gene Name glycerol kinase-like 1
Synonyms Gk-rs1
MMRRC Submission 039066-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.359) question?
Stock # R0908 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 52826762-52828622 bp(+) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to A at 52828441 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Lysine at position 550 (*550K)
Ref Sequence ENSEMBL: ENSMUSP00000067598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066193]
AlphaFold Q8C635
Predicted Effect probably null
Transcript: ENSMUST00000066193
AA Change: *550K
SMART Domains Protein: ENSMUSP00000067598
Gene: ENSMUSG00000053624
AA Change: *550K

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.4%
  • 20x: 95.1%
Validation Efficiency
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T A 3: 137,775,838 (GRCm39) F1676I probably damaging Het
Afg2a T A 3: 37,485,772 (GRCm39) probably null Het
Atp8a2 T C 14: 60,097,719 (GRCm39) K770E probably benign Het
Atp8b3 T C 10: 80,355,918 (GRCm39) T1265A probably benign Het
Cep112 T C 11: 108,555,323 (GRCm39) V679A possibly damaging Het
Cts8 A T 13: 61,398,730 (GRCm39) Y259N probably damaging Het
Depdc7 A G 2: 104,558,437 (GRCm39) S195P probably benign Het
Dio2 A T 12: 90,696,422 (GRCm39) C189S probably damaging Het
Dmc1 A G 15: 79,469,890 (GRCm39) L189P probably damaging Het
Ehmt1 A G 2: 24,694,900 (GRCm39) Y1016H probably damaging Het
Gle1 T C 2: 29,826,133 (GRCm39) S71P probably benign Het
Klhl32 T C 4: 24,682,092 (GRCm39) D197G probably damaging Het
Krt78 G A 15: 101,859,336 (GRCm39) T287M probably damaging Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Mrpl1 A T 5: 96,409,942 (GRCm39) I272L probably benign Het
Naip2 T C 13: 100,298,362 (GRCm39) E558G probably benign Het
Naip2 C T 13: 100,298,368 (GRCm39) G556D probably benign Het
Or52e19 T C 7: 102,959,780 (GRCm39) V284A possibly damaging Het
Or8g23 T C 9: 38,971,243 (GRCm39) T240A probably damaging Het
Pak3 TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC X: 142,526,889 (GRCm39) probably benign Het
Pde5a A T 3: 122,572,650 (GRCm39) I344L probably benign Het
Prl7c1 A G 13: 27,957,717 (GRCm39) I241T possibly damaging Het
Rp1 T C 1: 4,414,878 (GRCm39) E2078G probably benign Het
Scamp3 T C 3: 89,086,746 (GRCm39) probably null Het
Septin8 A G 11: 53,428,697 (GRCm39) H414R probably benign Het
Spef2 T A 15: 9,614,281 (GRCm39) probably null Het
Txlnb A G 10: 17,674,925 (GRCm39) N26S probably damaging Het
Vmn1r11 G T 6: 57,115,049 (GRCm39) V201L probably damaging 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
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
(F):5'- GGTCGTTACGCCACATGGAAGAAAG -3'
(R):5'- ACTTGGTCACCACCAGCGAAAATG -3'

Sequencing Primer
(F):5'- AGCTGTGCTGAAGTCAATGG -3'
(R):5'- CCAGCGAAAATGGTCAATATTTAAAG -3'
Posted On 2013-11-08