Mutagenetix > Incidental Mutations

Incidental Mutation 'R5240:Dgke'

400753

Institutional Source

Beutler Lab

Gene Symbol

Dgke

Ensembl Gene

ENSMUSG00000000276

Gene Name

diacylglycerol kinase, epsilon

Synonyms

DAGK6

MMRRC Submission

042811-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.252) question?

Stock #

R5240 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89035179-89066850 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 89050685 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 288 (D288V)

Ref Sequence

ENSEMBL: ENSMUSP00000116277 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000000285
AA Change: D288V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000000285
Gene: ENSMUSG00000000276
AA Change: D288V

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

probably damaging
Transcript: ENSMUST00000107894
AA Change: D288V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103526
Gene: ENSMUSG00000000276
AA Change: D288V

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

probably damaging
Transcript: ENSMUST00000152772
AA Change: D288V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000116277
Gene: ENSMUSG00000000276
AA Change: D288V

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

0.5436

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

100% (69/69)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cdc42bpg	T	G	19: 6,315,899	L786R	probably damaging	Het
Cfap73	C	T	5: 120,629,707	V260I	probably damaging	Het
Chchd10	A	T	10: 75,937,449	N131I	probably damaging	Het
Chn2	T	C	6: 54,220,695	V190A	probably benign	Het
Clec2l	C	T	6: 38,673,452	T64I	probably damaging	Het
Cpeb3	T	A	19: 37,174,515	T154S	probably damaging	Het
D130043K22Rik	A	G	13: 24,877,977	E643G	probably damaging	Het
Ddx31	A	G	2: 28,846,030	M127V	probably benign	Het
Dennd1b	A	G	1: 139,062,877	Y193C	probably damaging	Het
Dst	T	A	1: 34,208,558	L1683*	probably null	Het
Dupd1	G	A	14: 21,677,023	R186W	probably benign	Het
E130116L18Rik	G	T	5: 25,223,020		probably benign	Het
Eif2b5	G	A	16: 20,501,398	V115I	possibly damaging	Het
Fchsd1	C	T	18: 37,959,873		probably benign	Het
Fgfr3	A	T	5: 33,730,038	T234S	probably damaging	Het
Gipc2	A	T	3: 152,102,662	D251E	possibly damaging	Het
Gm11787	A	C	4: 3,511,810		noncoding transcript	Het
Gm5538	A	C	3: 59,752,028	T301P	probably damaging	Het
Haus6	A	G	4: 86,583,178	Y819H	possibly damaging	Het
Homez	G	A	14: 54,858,074	A59V	probably damaging	Het
Iffo1	T	C	6: 125,152,460	V363A	probably benign	Het
Ifit2	T	A	19: 34,574,396	D445E	probably benign	Het
Ipo9	A	C	1: 135,389,606		probably benign	Het
Kcnv1	C	T	15: 45,113,244	G216R	probably damaging	Het
Kdm6b	A	C	11: 69,401,904		probably benign	Het
Mplkip	T	C	13: 17,695,719	S79P	probably damaging	Het
Nae1	T	C	8: 104,523,144		probably benign	Het
Nfe2l2	A	T	2: 75,676,009	N582K	possibly damaging	Het
Nsmce4a	G	A	7: 130,537,024	R297C	probably damaging	Het
Olfr397	T	C	11: 73,964,806	L66P	probably damaging	Het
Olfr411	T	A	11: 74,347,242	D114V	probably damaging	Het
Olfr495	A	T	7: 108,395,702	D194V	probably damaging	Het
Osbp	T	A	19: 11,978,290	F357I	probably damaging	Het
Pcdhb4	A	G	18: 37,309,926	D763G	possibly damaging	Het
Pcdhgb2	A	C	18: 37,691,050	I365L	possibly damaging	Het
Pde6g	A	G	11: 120,448,086		probably benign	Het
Pigo	C	A	4: 43,020,675	V756L	possibly damaging	Het
Pkhd1	G	T	1: 20,275,641	T2721K	probably benign	Het
Pls1	A	T	9: 95,776,622		probably null	Het
Prim2	A	G	1: 33,480,316		probably benign	Het
Prkd2	T	A	7: 16,855,786	I471N	probably benign	Het
Prrc2b	C	T	2: 32,206,396	T593I	probably benign	Het
Ptch2	C	A	4: 117,106,138		probably benign	Het
Pth	A	T	7: 113,385,844	D107E	probably damaging	Het
Pycr2	A	C	1: 180,907,623	Q315P	probably benign	Het
Rbpj	A	T	5: 53,649,440	Y209F	probably damaging	Het
Ripk4	C	A	16: 97,743,767	R560L	probably damaging	Het
Sdr42e1	T	C	8: 117,663,282	R207G	probably benign	Het
Sipa1l1	A	G	12: 82,341,588	Y196C	possibly damaging	Het
Smarcc2	T	C	10: 128,481,006		probably null	Het
Stom	T	A	2: 35,336,877	I15F	probably benign	Het
Sugp2	G	T	8: 70,243,275	L299F	probably benign	Het
Tbrg4	A	T	11: 6,617,516		probably null	Het
Tkt	G	T	14: 30,565,678	G210C	probably damaging	Het
Tmem163	G	A	1: 127,491,552		probably benign	Het
Trip12	A	G	1: 84,794,133	I98T	probably benign	Het
Unc5b	A	G	10: 60,774,640	I466T	probably damaging	Het
Unc79	T	A	12: 103,070,751	F599L	probably damaging	Het
Vav1	G	A	17: 57,297,122	E151K	probably damaging	Het
Vcan	T	G	13: 89,692,532	D1631A	probably benign	Het
Vmn2r4	A	C	3: 64,406,937	S208A	possibly damaging	Het
Zfp619	A	G	7: 39,537,218	T891A	possibly damaging	Het
Zfp672	A	G	11: 58,329,701		probably benign	Het
Znhit1	T	A	5: 136,982,381		probably null	Het

Other mutations in Dgke

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00503:Dgke	APN	11	89041501	missense	probably benign	0.02
IGL00548:Dgke	APN	11	89055371	missense	probably benign
IGL01366:Dgke	APN	11	89055386	missense	probably benign	0.25
IGL01682:Dgke	APN	11	89052441	missense	probably damaging	1.00
IGL02942:Dgke	APN	11	89055369	missense	probably benign
R0479:Dgke	UTSW	11	89052470	missense	probably benign	0.01
R0653:Dgke	UTSW	11	89060169	missense	probably benign	0.01
R0735:Dgke	UTSW	11	89060075	missense	probably benign	0.18
R1471:Dgke	UTSW	11	89055494	missense	possibly damaging	0.76
R2267:Dgke	UTSW	11	89052469	missense	probably benign	0.00
R4297:Dgke	UTSW	11	89050730	missense	probably damaging	1.00
R4963:Dgke	UTSW	11	89050802	missense	possibly damaging	0.78
R5222:Dgke	UTSW	11	89050394	missense	probably benign	0.00
R5864:Dgke	UTSW	11	89050462	nonsense	probably null
R6267:Dgke	UTSW	11	89040749	missense	probably benign
R6296:Dgke	UTSW	11	89040749	missense	probably benign
R6851:Dgke	UTSW	11	89052483	missense	probably benign	0.15
R7204:Dgke	UTSW	11	89041480	missense	probably damaging	1.00
R7216:Dgke	UTSW	11	89050337	missense	probably benign	0.01
R7895:Dgke	UTSW	11	89040856	missense	probably damaging	1.00
R8203:Dgke	UTSW	11	89050367	missense	probably benign	0.00
R8461:Dgke	UTSW	11	89048993	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- AGACACGCTGCAGACTTTG -3'
(R):5'- TGTCTCTGAGAACTGCAAAAGG -3'

Sequencing Primer
(F):5'- GTGTGCTAACTACTTAATCAGC -3'
(R):5'- CCTGTAAGGTGAAAGACGATATTG -3'

Posted On

2016-07-06