Mutagenetix > Incidental Mutation

Incidental Mutation 'R9030:Dgke'

687008

Institutional Source

Beutler Lab

Gene Symbol

Dgke

Ensembl Gene

ENSMUSG00000000276

Gene Name

diacylglycerol kinase, epsilon

Synonyms

DAGK6

MMRRC Submission

068859-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.238) question?

Stock #

R9030 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88926005-88951644 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88941237 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 315 (N315K)

Ref Sequence

ENSEMBL: ENSMUSP00000000285 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000285] [ENSMUST00000107894] [ENSMUST00000152772]

AlphaFold

Q9R1C6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000000285
AA Change: N315K

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000000285
Gene: ENSMUSG00000000276
AA Change: N315K

Domain	Start	End	E-Value	Type
transmembrane domain	20	40	N/A	INTRINSIC
C1	56	106	1.82e-4	SMART
C1	122	174	1.78e-7	SMART
DAGKc	216	347	3.69e-55	SMART
DAGKa	366	521	4.8e-95	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107894
AA Change: N315K

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103526
Gene: ENSMUSG00000000276
AA Change: N315K

Domain	Start	End	E-Value	Type
transmembrane domain	20	40	N/A	INTRINSIC
C1	56	106	1.82e-4	SMART
C1	122	174	1.78e-7	SMART
DAGKc	216	347	3.69e-55	SMART
DAGKa	366	521	4.8e-95	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000152772
AA Change: N315K

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000116277
Gene: ENSMUSG00000000276
AA Change: N315K

Domain	Start	End	E-Value	Type
transmembrane domain	20	40	N/A	INTRINSIC
C1	56	106	1.82e-4	SMART
C1	122	174	1.78e-7	SMART
DAGKc	216	347	3.69e-55	SMART
Pfam:DAGK_acc	366	406	9.7e-15	PFAM

Meta Mutation Damage Score

0.5761

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (57/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Diacylglycerol kinases are thought to be involved mainly in the regeneration of phosphatidylinositol (PI) from diacylglycerol in the PI-cycle during cell signal transduction. When expressed in mammalian cells, DGK-epsilon shows specificity for arachidonyl-containing diacylglycerol. DGK-epsilon is expressed predominantly in testis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null allele exhibit reductions in susceptibility to electroconvulsive shock and arachidonoyldiacylglycerol accumulation in cerebral cortex, and attenuated long-term potentiation in dentate granular cell synapses. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr5	A	C	2: 158,474,321 (GRCm39)	I375L	probably benign	Het
Adgrl2	G	T	3: 148,544,761 (GRCm39)	T778K	possibly damaging	Het
Ccn3	A	T	15: 54,615,687 (GRCm39)	Y284F	probably damaging	Het
Cdc73	A	T	1: 143,485,234 (GRCm39)	L478H	probably damaging	Het
Cdh20	C	A	1: 110,027,843 (GRCm39)	H529Q	probably benign	Het
Cep55	T	C	19: 38,059,592 (GRCm39)		probably null	Het
Chd9	G	A	8: 91,683,198 (GRCm39)	R546Q	unknown	Het
Ddit4	A	T	10: 59,786,515 (GRCm39)	L178Q	probably damaging	Het
Dsg1a	A	G	18: 20,473,549 (GRCm39)	D874G	probably damaging	Het
Dsp	T	A	13: 38,352,673 (GRCm39)	Y184N	probably damaging	Het
Dynlt1c	A	G	17: 6,870,916 (GRCm39)	I20V	probably benign	Het
Ephx4	A	G	5: 107,577,549 (GRCm39)	H291R	possibly damaging	Het
Epx	A	T	11: 87,763,470 (GRCm39)	M250K	probably benign	Het
Fan1	T	C	7: 64,022,761 (GRCm39)	Y164C	probably benign	Het
Fer1l6	A	T	15: 58,502,594 (GRCm39)	Y1365F	probably damaging	Het
Fndc8	A	G	11: 82,789,522 (GRCm39)	T227A	probably benign	Het
Gbp7	T	C	3: 142,243,798 (GRCm39)	I115T	probably damaging	Het
Gm5145	A	G	17: 20,791,270 (GRCm39)	E216G	probably benign	Het
Gm94	A	T	18: 43,914,326 (GRCm39)	F77L	possibly damaging	Het
Grik3	C	A	4: 125,526,185 (GRCm39)	H139Q	probably benign	Het
Gucy2e	T	C	11: 69,115,827 (GRCm39)	T852A	probably damaging	Het
Hif1a	T	C	12: 73,983,010 (GRCm39)	S274P	probably damaging	Het
Hmcn1	T	A	1: 150,692,870 (GRCm39)	I268L	probably benign	Het
Klk15	C	T	7: 43,587,790 (GRCm39)	H73Y	possibly damaging	Het
Lin52	T	A	12: 84,592,681 (GRCm39)	S87T		Het
Lrrc74b	A	G	16: 17,367,640 (GRCm39)		probably null	Het
Mapk10	T	C	5: 103,144,499 (GRCm39)	K136R	probably damaging	Het
Nlrp2	A	T	7: 5,325,457 (GRCm39)	N738K	probably null	Het
Nlrp5	A	T	7: 23,129,573 (GRCm39)	Q880L	possibly damaging	Het
Or2y11	T	A	11: 49,442,808 (GRCm39)	V78E	probably damaging	Het
Or5d39	A	T	2: 87,979,718 (GRCm39)	I215N	possibly damaging	Het
Or6c215	G	T	10: 129,637,926 (GRCm39)	P156Q	probably damaging	Het
P4htm	G	A	9: 108,474,627 (GRCm39)	P46L	probably benign	Het
Pcsk4	A	T	10: 80,164,858 (GRCm39)	H69Q	probably damaging	Het
Pdzd2	A	G	15: 12,374,385 (GRCm39)	S1917P	probably benign	Het
Pnpla5	A	G	15: 83,998,087 (GRCm39)	V385A	possibly damaging	Het
Prorp	T	C	12: 55,426,192 (GRCm39)	F514S	probably damaging	Het
Rims2	C	T	15: 39,339,873 (GRCm39)	R856C	probably damaging	Het
Rprd2	A	G	3: 95,691,622 (GRCm39)	Y218H	probably benign	Het
Sat2	T	A	11: 69,513,069 (GRCm39)		probably benign	Het
Sf1	C	T	19: 6,426,336 (GRCm39)	R186C		Het
Snrnp200	A	G	2: 127,053,466 (GRCm39)		probably benign	Het
Sqor	A	T	2: 122,629,514 (GRCm39)	D124V	probably benign	Het
Ssh2	A	G	11: 77,312,062 (GRCm39)	H191R	possibly damaging	Het
Stac	C	A	9: 111,519,320 (GRCm39)		probably benign	Het
Svs4	T	C	2: 164,119,058 (GRCm39)	M93V	unknown	Het
Tbc1d32	A	T	10: 56,037,241 (GRCm39)	S668T	possibly damaging	Het
Tex10	A	G	4: 48,452,056 (GRCm39)	F690S	probably damaging	Het
Tex30	A	G	1: 44,130,356 (GRCm39)	M88T		Het
Tgfbrap1	T	C	1: 43,095,837 (GRCm39)	T534A	probably benign	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tnrc18	T	C	5: 142,711,818 (GRCm39)	E2647G	probably damaging	Het
Trim43a	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	9: 88,465,042 (GRCm39)		probably benign	Het
Tubb3	A	T	8: 124,145,696 (GRCm39)	R62W	probably damaging	Het
Vmn2r108	A	G	17: 20,690,312 (GRCm39)	S507P	probably benign	Het
Vmn2r116	A	G	17: 23,603,864 (GRCm39)	K30E	possibly damaging	Het
Vmn2r14	G	A	5: 109,368,054 (GRCm39)	H313Y	probably damaging	Het
Wdr37	C	T	13: 8,885,424 (GRCm39)	V340M	probably damaging	Het
Zfp799	A	G	17: 33,039,565 (GRCm39)	F234L	possibly damaging	Het

Other mutations in Dgke

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00503:Dgke	APN	11	88,932,327 (GRCm39)	missense	probably benign	0.02
IGL00548:Dgke	APN	11	88,946,197 (GRCm39)	missense	probably benign
IGL01366:Dgke	APN	11	88,946,212 (GRCm39)	missense	probably benign	0.25
IGL01682:Dgke	APN	11	88,943,267 (GRCm39)	missense	probably damaging	1.00
IGL02942:Dgke	APN	11	88,946,195 (GRCm39)	missense	probably benign
R0479:Dgke	UTSW	11	88,943,296 (GRCm39)	missense	probably benign	0.01
R0653:Dgke	UTSW	11	88,950,995 (GRCm39)	missense	probably benign	0.01
R0735:Dgke	UTSW	11	88,950,901 (GRCm39)	missense	probably benign	0.18
R1471:Dgke	UTSW	11	88,946,320 (GRCm39)	missense	possibly damaging	0.76
R2267:Dgke	UTSW	11	88,943,295 (GRCm39)	missense	probably benign	0.00
R4297:Dgke	UTSW	11	88,941,556 (GRCm39)	missense	probably damaging	1.00
R4963:Dgke	UTSW	11	88,941,628 (GRCm39)	missense	possibly damaging	0.78
R5222:Dgke	UTSW	11	88,941,220 (GRCm39)	missense	probably benign	0.00
R5240:Dgke	UTSW	11	88,941,511 (GRCm39)	missense	probably damaging	1.00
R5864:Dgke	UTSW	11	88,941,288 (GRCm39)	nonsense	probably null
R6267:Dgke	UTSW	11	88,931,575 (GRCm39)	missense	probably benign
R6296:Dgke	UTSW	11	88,931,575 (GRCm39)	missense	probably benign
R6851:Dgke	UTSW	11	88,943,309 (GRCm39)	missense	probably benign	0.15
R7204:Dgke	UTSW	11	88,932,306 (GRCm39)	missense	probably damaging	1.00
R7216:Dgke	UTSW	11	88,941,163 (GRCm39)	missense	probably benign	0.01
R7895:Dgke	UTSW	11	88,931,682 (GRCm39)	missense	probably damaging	1.00
R8203:Dgke	UTSW	11	88,941,193 (GRCm39)	missense	probably benign	0.00
R8461:Dgke	UTSW	11	88,939,819 (GRCm39)	missense	possibly damaging	0.89
R9566:Dgke	UTSW	11	88,932,273 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AAGCAAGTGCACAAATTTTGGC -3'
(R):5'- ACGCTGATTAAGTAGTTAGCACAC -3'

Sequencing Primer
(F):5'- TCAATGTCCCAAGTGCTGG -3'
(R):5'- GCACACTTACAGTTGTATTTGTGTC -3'

Posted On

2021-11-19