Mutagenetix > Incidental Mutation

Incidental Mutation 'RF042:Gykl1'

604888

Institutional Source

Beutler Lab

Gene Symbol

Gykl1

Ensembl Gene

ENSMUSG00000053624

Gene Name

glycerol kinase-like 1

Synonyms

Gk-rs1

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.389) question?

Stock #

RF042 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

52826762-52828622 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 52827488 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 232 (R232Q)

Ref Sequence

ENSEMBL: ENSMUSP00000067598 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066193]

AlphaFold

Q8C635

Predicted Effect

probably benign
Transcript: ENSMUST00000066193
AA Change: R232Q

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000067598
Gene: ENSMUSG00000053624
AA Change: R232Q

Domain	Start	End	E-Value	Type
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: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.8%

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: 46 list
Gene	Ref	Var	Chr/Loc	Predicted Effect	Zygosity
5430401F13Rik	AAAGGAAAAGGTGGCCAG	AAAGGAAAAGGTGGCCAGCAAAAACAGGAAGGAAAAGGTGGCCAG	6: 131,529,849 (GRCm39)	probably benign	Het
A030005L19Rik	GCTGCTG	GCTGCTGTGACTGCTG	1: 82,891,305 (GRCm39)	probably benign	Het
AI837181	GGC	GGCTGC	19: 5,475,245 (GRCm39)	probably benign	Het
AI837181	CG	CGGTG	19: 5,475,265 (GRCm39)	probably benign	Het
Anapc2	GCGGCGGCGGCGAC	GC	2: 25,162,573 (GRCm39)	probably benign	Het
Cgnl1	AGCG	AGCGGCG	9: 71,631,997 (GRCm39)	probably benign	Het
Cntnap1	TTT	TTTTGTT	11: 101,071,131 (GRCm39)	probably benign	Het
Cul9	TTCTC	TTC	17: 46,851,541 (GRCm39)	probably null	Het
Dnmt1	GGGGCGGAGCACAGTTCCTACCTCGTT	GGGGCGGAGCACAGTTCCTACCTCGTTTTGTGGGCGGAGCACAGTTCCTACCTCGTT	9: 20,821,415 (GRCm39)	probably null	Het
Frem3	GATC	GATCATC	8: 81,341,867 (GRCm39)	probably benign	Het
Gab3	TCT	TCTACT	X: 74,043,611 (GRCm39)	probably benign	Het
Gab3	TTC	TTCGTC	X: 74,043,628 (GRCm39)	probably benign	Het
Gabre	GGCTCC	GGCTCCTGCTCC	X: 71,313,653 (GRCm39)	probably benign	Het
Gm8369	TGTG	TGTGAGTG	19: 11,489,137 (GRCm39)	probably null	Het
Gm8369	GTGTGT	GTGTGTTTGTGT	19: 11,489,142 (GRCm39)	probably benign	Het
Igkv12-89	G	GCAACGCCAT	6: 68,812,270 (GRCm39)	probably benign	Het
Iqcf4	TCCTTTTCCTTTTCCTTTT	TCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTGCCTTTTCCTTTTCCTTTT	9: 106,447,804 (GRCm39)	probably benign	Het
Kmt2e	TTT	TTTTCTT	5: 23,683,507 (GRCm39)	probably benign	Het
Krtap28-10	CCACAG	CCACAGACACAG	1: 83,019,846 (GRCm39)	probably benign	Het
Las1l	CTTCCT	CTTCCTTTTCCT	X: 94,984,226 (GRCm39)	probably benign	Het
Lca5l	GCCCTGGCCCTGGCCCC	GCCC	16: 95,960,497 (GRCm39)	probably null	Het
Lce1m	CACTGCTGCTGC	CACTGCTGCTGCAACTGCTGCTGC	3: 92,925,446 (GRCm39)	probably benign	Het
Lypd8	CA	CAGTTCCCTCGCCTCTGTTACCCCACAAATCACCAATA	11: 58,281,069 (GRCm39)	probably benign	Het
Mamld1	GCAACA	GCAACAACA	X: 70,162,418 (GRCm39)	probably benign	Het
Mamld1	A	AGCC	X: 70,162,459 (GRCm39)	probably benign	Het
Map1a	T	TTGCTCCACCTCCAGCTCCAGCTCCAGCTCC	2: 121,136,768 (GRCm39)	probably benign	Het
Med12l	CAG	CAGAAG	3: 59,183,402 (GRCm39)	probably benign	Het
Med12l	GC	GCATC	3: 59,183,416 (GRCm39)	probably benign	Het
Med12l	GCAACA	GCAACAACA	3: 59,183,377 (GRCm39)	probably benign	Het
Med12l	AGC	AGCGGC	3: 59,183,388 (GRCm39)	probably benign	Het
Morn4	GCAGTGAG	GCAGTGAGTCAGTCAGTGAG	19: 42,064,550 (GRCm39)	probably null	Het
Nusap1	GAGA	GAGATACACGTTAGCAGTGAGGAGCAAGCTTAGA	2: 119,458,088 (GRCm39)	probably null	Het
Opa3	GCGGGC	GCGGGCGGAGCTGCGGGCGGAGCTGCGGGCGGAGCTACGGGC	7: 18,989,594 (GRCm39)	probably benign	Het
Pdia4	CTCTTCCTCCT	C	6: 47,785,240 (GRCm39)	probably null	Het
Reep1	CGCCA	CGCCAGCCA	6: 71,684,950 (GRCm39)	probably null	Het
Sbp	AAGA	AAGACGCTGACAACAGAGA	17: 24,164,358 (GRCm39)	probably benign	Het
Sfswap	CTCGGCCCA	CTCGGCCCAGTCGGCCCA	5: 129,646,807 (GRCm39)	probably benign	Het
Slc39a4	TC	TCATCATGATCACCATGGTCACCATGATCACTGTGGCC	15: 76,499,071 (GRCm39)	probably benign	Het
Srpk2	ATCCT	AT	5: 23,730,573 (GRCm39)	probably benign	Het
Tfeb	GCA	GCACCA	17: 48,097,022 (GRCm39)	probably benign	Het
Tgoln1	T	TCACCTCCCGTGGGCTTGCCAGAAG	6: 72,593,057 (GRCm39)	probably benign	Het
Tob1	CACA	CACAACA	11: 94,105,277 (GRCm39)	probably benign	Het
Trappc9	A	AGCTGCTGCTGCTGCT	15: 72,673,132 (GRCm39)	probably benign	Het
Tsen2	GGA	GGATGA	6: 115,537,028 (GRCm39)	probably benign	Het
Zfhx3	GC	GCCACAGCAAC	8: 109,682,720 (GRCm39)	probably benign	Het
Zfhx3	CAGCAGCA	CAGCAGCAAAAGCAGCA	8: 109,682,730 (GRCm39)	probably benign	Het

Other mutations in Gykl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- AGACAGGCCTTCCAATCAGC -3'
(R):5'- ACACACTTCTGGCCTGTGTTAC -3'

Sequencing Primer
(F):5'- CACTGGCTCATTGAAAATGTGAG -3'
(R):5'- CTGGCCTGTGTTACATAGTAAGAAAC -3'

Posted On

2019-12-04