Mutagenetix > Incidental Mutation

Incidental Mutation 'R8804:Gykl1'

671961

Institutional Source

Beutler Lab

Gene Symbol

Gykl1

Ensembl Gene

ENSMUSG00000053624

Gene Name

glycerol kinase-like 1

Synonyms

Gk-rs1

MMRRC Submission

068641-MU

Accession Numbers

Essential gene?

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

Stock #

R8804 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52826762-52828622 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52827608 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 272 (D272G)

Ref Sequence

ENSEMBL: ENSMUSP00000067598 (fasta)

Gene Model

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

AlphaFold

Q8C635

Predicted Effect

probably benign
Transcript: ENSMUST00000066193
AA Change: D272G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000067598
Gene: ENSMUSG00000053624
AA Change: D272G

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (79/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700064H15Rik	T	C	3: 19,682,820 (GRCm39)		probably benign	Het
Adamts1	A	G	16: 85,599,300 (GRCm39)	F100S	probably damaging	Het
Adamts5	A	G	16: 85,666,800 (GRCm39)		probably benign	Het
Adgrb2	T	A	4: 129,899,212 (GRCm39)	W309R	probably damaging	Het
Adgrl2	A	T	3: 148,552,652 (GRCm39)	V617E	probably damaging	Het
Akt1	T	C	12: 112,625,041 (GRCm39)	E169G	probably damaging	Het
Arhgap40	A	G	2: 158,389,626 (GRCm39)	T600A	probably benign	Het
B4galt3	C	T	1: 171,103,947 (GRCm39)	H395Y	probably benign	Het
BC024139	T	G	15: 76,008,284 (GRCm39)	T376P	possibly damaging	Het
Bin3	A	G	14: 70,361,296 (GRCm39)	R22G	probably damaging	Het
Cadps2	A	T	6: 23,496,805 (GRCm39)	I480N	probably damaging	Het
Camsap3	A	G	8: 3,652,624 (GRCm39)	T401A	probably benign	Het
Ccdc168	T	C	1: 44,095,809 (GRCm39)	N1763S	probably benign	Het
Cdhr5	T	C	7: 140,849,320 (GRCm39)	T747A	probably benign	Het
Chn2	A	G	6: 54,250,061 (GRCm39)	I193V	probably benign	Het
Clca3b	T	C	3: 144,544,898 (GRCm39)	N363S	probably benign	Het
Clec7a	T	C	6: 129,442,518 (GRCm39)	T125A	probably benign	Het
Cys1	A	T	12: 24,718,610 (GRCm39)	L81Q	unknown	Het
Dcbld2	G	A	16: 58,281,412 (GRCm39)		probably benign	Het
Ddx60	T	A	8: 62,411,640 (GRCm39)	D497E	probably benign	Het
Dnah2	T	C	11: 69,356,511 (GRCm39)	I2117V	probably benign	Het
Dnah6	G	A	6: 73,042,756 (GRCm39)	S3274F	probably benign	Het
Dock9	A	T	14: 121,842,595 (GRCm39)	I1225N	probably damaging	Het
Egfr	A	G	11: 16,819,339 (GRCm39)	T290A	probably benign	Het
Elmod2	T	A	8: 84,046,150 (GRCm39)	K142N	probably benign	Het
Ephx2	T	C	14: 66,324,469 (GRCm39)	T441A	probably benign	Het
Fam234a	A	G	17: 26,435,531 (GRCm39)		probably benign	Het
Fer1l4	C	A	2: 155,893,914 (GRCm39)	E102D	probably benign	Het
Fermt3	A	G	19: 6,991,694 (GRCm39)		probably benign	Het
Fgd5	C	T	6: 91,964,507 (GRCm39)	R247C	probably benign	Het
Gm14443	G	A	2: 175,011,652 (GRCm39)	H265Y	probably damaging	Het
Hip1r	T	C	5: 124,139,575 (GRCm39)	S952P	possibly damaging	Het
Hmcn2	A	G	2: 31,315,393 (GRCm39)	N3714S	probably benign	Het
Ighv1-36	G	T	12: 114,843,581 (GRCm39)	T93K	probably benign	Het
Igsf10	T	G	3: 59,243,876 (GRCm39)	T153P	probably damaging	Het
Kif13b	T	C	14: 64,987,791 (GRCm39)	C773R	probably damaging	Het
Lipf	T	A	19: 33,942,198 (GRCm39)	Y43N	probably damaging	Het
Mlh1	T	C	9: 111,093,972 (GRCm39)	D90G	probably damaging	Het
Msh5	A	T	17: 35,251,830 (GRCm39)	I410K	probably benign	Het
Mylk3	T	C	8: 86,085,874 (GRCm39)	D220G	probably benign	Het
Ncdn	G	A	4: 126,643,898 (GRCm39)	A308V	probably benign	Het
Nfu1	T	A	6: 86,993,414 (GRCm39)		probably benign	Het
Nup153	A	G	13: 46,840,635 (GRCm39)	V991A	probably benign	Het
Nup188	T	A	2: 30,220,891 (GRCm39)	H960Q	probably benign	Het
Parp4	G	T	14: 56,853,900 (GRCm39)	E839*	probably null	Het
Pfas	T	C	11: 68,881,908 (GRCm39)	N30D		Het
Pitpnc1	T	A	11: 107,103,431 (GRCm39)	N223Y	probably damaging	Het
Plaat1	T	A	16: 29,039,205 (GRCm39)	V95E	probably benign	Het
Plod1	C	T	4: 147,997,778 (GRCm39)	V644I	probably damaging	Het
Pou2f1	T	C	1: 165,708,039 (GRCm39)	T548A	unknown	Het
Psg20	A	T	7: 18,416,584 (GRCm39)	N177K	possibly damaging	Het
Psmb8	T	A	17: 34,419,225 (GRCm39)	I173N	probably damaging	Het
Rimkla	G	A	4: 119,325,273 (GRCm39)	Q379*	probably null	Het
Rnasel	G	T	1: 153,629,661 (GRCm39)	G59V	probably damaging	Het
Rptn	A	T	3: 93,303,150 (GRCm39)	D161V	probably damaging	Het
Scrt1	C	A	15: 76,403,411 (GRCm39)	C193F	unknown	Het
Sdk2	G	T	11: 113,763,978 (GRCm39)	Y269*	probably null	Het
Sfxn2	G	C	19: 46,574,243 (GRCm39)		probably benign	Het
Slc17a4	G	T	13: 24,087,245 (GRCm39)	T264K	probably benign	Het
Slfn8	T	A	11: 82,907,639 (GRCm39)	Q301H	possibly damaging	Het
Sntb1	G	A	15: 55,655,523 (GRCm39)	S231F	probably benign	Het
Spag17	T	A	3: 99,874,506 (GRCm39)	S137T	probably benign	Het
Srd5a2	A	T	17: 74,354,629 (GRCm39)	V65E	possibly damaging	Het
Stk11ip	A	G	1: 75,511,900 (GRCm39)	H967R	probably benign	Het
Sun1	A	G	5: 139,216,920 (GRCm39)	T320A	probably benign	Het
Svep1	A	G	4: 58,206,043 (GRCm39)	S112P	possibly damaging	Het
Tacc2	T	C	7: 130,294,693 (GRCm39)	L15P	probably benign	Het
Tas2r140	T	A	6: 133,032,326 (GRCm39)	N144I	probably damaging	Het
Thpo	T	A	16: 20,544,707 (GRCm39)	R174S	probably damaging	Het
Tnik	A	T	3: 28,648,202 (GRCm39)	Q418L	unknown	Het
Tnr	A	T	1: 159,685,882 (GRCm39)	Q371L	probably benign	Het
Tulp2	G	A	7: 45,170,398 (GRCm39)	R439Q	probably damaging	Het
Uchl4	G	T	9: 64,142,606 (GRCm39)	W29L	probably damaging	Het
Vrk3	T	A	7: 44,407,270 (GRCm39)	C80*	probably null	Het
Washc4	T	C	10: 83,408,015 (GRCm39)	L540P	probably damaging	Het
Wscd1	T	C	11: 71,675,161 (GRCm39)	F356S	probably damaging	Het
Wwc1	A	T	11: 35,774,144 (GRCm39)	M372K	probably benign	Het
Zfhx2	A	G	14: 55,312,191 (GRCm39)	F168L	probably benign	Het
Zfp28	A	G	7: 6,393,399 (GRCm39)	D175G	probably damaging	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
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'- ATGGGATGAAGAGCTCTGCG -3'
(R):5'- CCAATATGGAGCGTATAAGCCTG -3'

Sequencing Primer
(F):5'- CCTAGTGAAAAGTGGCGT -3'
(R):5'- TTTTTATCCAGCTAACAACAGCACCG -3'

Posted On

2021-04-30