Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00503:Dgke'

332496

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dgke

Ensembl Gene

ENSMUSG00000000276

Gene Name

diacylglycerol kinase, epsilon

Synonyms

DAGK6

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.246) question?

Stock #

IGL00503

Quality Score

Status

Chromosome

Chromosomal Location

89035179-89066850 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89041501 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 488 (I488V)

Ref Sequence

ENSEMBL: ENSMUSP00000103526 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000000285
AA Change: I488V

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000000285
Gene: ENSMUSG00000000276
AA Change: I488V

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 benign
Transcript: ENSMUST00000107894
AA Change: I488V

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000103526
Gene: ENSMUSG00000000276
AA Change: I488V

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 benign
Transcript: ENSMUST00000152772

SMART Domains

Protein: ENSMUSP00000116277
Gene: ENSMUSG00000000276

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

Coding Region Coverage

Validation Efficiency

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930546C10Rik	T	A	18: 68,950,102	R14*	probably null	Het
Abcb5	A	G	12: 118,907,601	S688P	probably benign	Het
Adgb	T	A	10: 10,406,099	Q597L	possibly damaging	Het
Aga	G	A	8: 53,518,921	V210I	probably benign	Het
Akap17b	A	G	X: 36,612,310	S515P	probably damaging	Het
Brinp3	A	T	1: 146,901,167	T451S	probably benign	Het
Cabcoco1	G	T	10: 68,541,805	T18N	possibly damaging	Het
Ccar2	C	T	14: 70,142,531	W402*	probably null	Het
Ccdc15	G	A	9: 37,320,473	A185V	probably damaging	Het
Ccdc50	G	A	16: 27,409,352	E90K	probably damaging	Het
Cckbr	G	A	7: 105,434,242	M217I	probably benign	Het
Clec16a	A	G	16: 10,694,649	T398A	possibly damaging	Het
Col4a1	A	G	8: 11,240,076		probably benign	Het
Cyp4v3	T	A	8: 45,307,021	E498V	probably damaging	Het
Dip2c	A	G	13: 9,567,898	D443G	probably damaging	Het
Edem3	T	G	1: 151,818,513	S852A	probably benign	Het
Fbxo8	T	A	8: 56,588,023	M158K	probably benign	Het
Galnt15	C	T	14: 32,052,356	T359M	possibly damaging	Het
Herc6	A	G	6: 57,607,145	N330D	probably benign	Het
Kdf1	T	C	4: 133,528,157	S62P	probably damaging	Het
Larp4	T	A	15: 99,987,421	I51N	probably damaging	Het
Mfsd6l	T	A	11: 68,556,473	I50N	probably damaging	Het
Mroh2b	A	G	15: 4,899,197	Y4C	probably benign	Het
Muc3	G	T	5: 137,137,123	Y343*	probably null	Het
Myom2	A	C	8: 15,114,289		probably null	Het
Npat	A	T	9: 53,572,649		probably benign	Het
Pamr1	A	T	2: 102,642,272	I639F	possibly damaging	Het
Pcsk2	A	G	2: 143,793,239	S345G	probably damaging	Het
Pcyt1a	A	G	16: 32,467,101	T197A	probably damaging	Het
Pkd1	A	G	17: 24,565,427	M316V	probably benign	Het
Plekhs1	T	C	19: 56,464,599		probably null	Het
Sema3e	G	T	5: 14,240,572	R557M	probably damaging	Het
Sgsm1	T	C	5: 113,276,142	N154S	probably benign	Het
Smg1	A	T	7: 118,185,483		probably benign	Het
Sp110	A	C	1: 85,577,329	F434C	probably benign	Het
Spats1	A	T	17: 45,454,085		probably null	Het
Tnfaip6	T	G	2: 52,055,847	V235G	probably damaging	Het
Trim34a	A	T	7: 104,261,331	T447S	probably damaging	Het
Tut1	G	A	19: 8,959,096	A95T	probably damaging	Het
Urgcp	C	T	11: 5,716,448	R630Q	possibly damaging	Het
Vmn1r125	G	T	7: 21,272,181	M1I	probably null	Het
Vmn2r99	A	G	17: 19,378,854	T267A	probably benign	Het
Wdr5	A	G	2: 27,520,867	K162E	probably benign	Het
Zscan26	T	G	13: 21,445,101	K285Q	probably damaging	Het

Other mutations in Dgke

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R5240:Dgke	UTSW	11	89050685	missense	probably damaging	1.00
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

Posted On

2015-08-05