Mutagenetix > Incidental Mutation

Incidental Mutation 'R5222:Dgke'

402377

Institutional Source

Beutler Lab

Gene Symbol

Dgke

Ensembl Gene

ENSMUSG00000000276

Gene Name

diacylglycerol kinase, epsilon

Synonyms

DAGK6

MMRRC Submission

042795-MU

Accession Numbers

Essential gene?

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

Stock #

R5222 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88926005-88951644 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 88941220 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 321 (T321K)

Ref Sequence

ENSEMBL: ENSMUSP00000116277 (fasta)

Gene Model

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

AlphaFold

Q9R1C6

Predicted Effect

probably benign
Transcript: ENSMUST00000000285
AA Change: T321K

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

SMART Domains

Protein: ENSMUSP00000000285
Gene: ENSMUSG00000000276
AA Change: T321K

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: T321K

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

SMART Domains

Protein: ENSMUSP00000103526
Gene: ENSMUSG00000000276
AA Change: T321K

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
AA Change: T321K

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

SMART Domains

Protein: ENSMUSP00000116277
Gene: ENSMUSG00000000276
AA Change: T321K

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

0.0815

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

98% (52/53)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	C	A	1: 159,872,178 (GRCm39)		noncoding transcript	Het
Acad11	G	A	9: 103,974,576 (GRCm39)	A515T	probably damaging	Het
Angpt1	T	C	15: 42,539,730 (GRCm39)	Y43C	probably damaging	Het
Arhgef33	A	G	17: 80,644,743 (GRCm39)	Y24C	probably damaging	Het
Cd40	G	C	2: 164,908,464 (GRCm39)	S180T	probably benign	Het
Cenpc1	A	T	5: 86,185,606 (GRCm39)	S302T	possibly damaging	Het
Cit	C	A	5: 116,090,602 (GRCm39)	T932K	probably benign	Het
Col19a1	A	C	1: 24,598,721 (GRCm39)		probably null	Het
Dapk3	A	G	10: 81,028,294 (GRCm39)	E288G	probably damaging	Het
Ddx60	T	C	8: 62,437,192 (GRCm39)	F1002S	probably damaging	Het
Ebf2	T	G	14: 67,551,043 (GRCm39)		probably benign	Het
Enpp7	A	G	11: 118,881,788 (GRCm39)	D311G	probably benign	Het
Epm2a	A	G	10: 11,324,493 (GRCm39)	E194G	probably damaging	Het
Esf1	A	G	2: 140,000,503 (GRCm39)	Y428H	possibly damaging	Het
Esyt2	T	C	12: 116,282,446 (GRCm39)	F132S	probably damaging	Het
Gm5455	T	C	13: 110,441,494 (GRCm39)		noncoding transcript	Het
Gria1	T	A	11: 57,080,623 (GRCm39)	V202E	probably benign	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Mark1	A	T	1: 184,660,288 (GRCm39)	F123I	probably damaging	Het
Nectin4	T	A	1: 171,212,825 (GRCm39)		probably null	Het
Obscn	T	A	11: 58,934,971 (GRCm39)	T5220S	possibly damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or2l13	A	C	16: 19,305,680 (GRCm39)	I31L	probably benign	Het
Or2p2	T	A	13: 21,256,739 (GRCm39)	H244L	probably damaging	Het
Pdcd1	A	T	1: 93,980,175 (GRCm39)	V14E	probably damaging	Het
Pmel	A	G	10: 128,554,853 (GRCm39)		probably null	Het
Pramel28	T	A	4: 143,691,362 (GRCm39)	I454F	possibly damaging	Het
Prrx1	C	T	1: 163,089,542 (GRCm39)	R95Q	probably damaging	Het
Pstpip2	T	A	18: 77,962,032 (GRCm39)	Y267*	probably null	Het
Ptprq	A	G	10: 107,498,425 (GRCm39)	I884T	probably damaging	Het
Rad17	G	A	13: 100,770,399 (GRCm39)	T216I	possibly damaging	Het
Rif1	T	C	2: 51,967,032 (GRCm39)	I107T	probably benign	Het
Rpp14	T	C	14: 8,087,513 (GRCm38)	L69P	probably damaging	Het
Rtel1	G	T	2: 180,988,776 (GRCm39)		probably benign	Het
Sap130	C	T	18: 31,799,756 (GRCm39)	T362M	probably damaging	Het
Scn11a	A	G	9: 119,644,268 (GRCm39)		probably null	Het
Sec31a	G	T	5: 100,530,754 (GRCm39)	T243N	probably benign	Het
Slc5a9	T	A	4: 111,755,808 (GRCm39)	H30L	possibly damaging	Het
Slco6b1	T	A	1: 96,925,216 (GRCm39)		noncoding transcript	Het
Smarca4	A	G	9: 21,567,002 (GRCm39)	D694G	probably benign	Het
Spaca6	A	G	17: 18,058,367 (GRCm39)	T213A	probably benign	Het
Tagap	C	A	17: 8,152,473 (GRCm39)	Q553K	possibly damaging	Het
Tagap	A	T	17: 8,152,474 (GRCm39)	Q553L	possibly damaging	Het
Tcf7l2	A	G	19: 55,887,044 (GRCm39)	Q19R	probably benign	Het
Ttn	A	G	2: 76,709,197 (GRCm39)		probably benign	Het
Ubr7	A	T	12: 102,741,964 (GRCm39)	R399S	probably benign	Het
Uspl1	C	A	5: 149,150,911 (GRCm39)	Q690K	possibly damaging	Het
Vps8	T	A	16: 21,400,298 (GRCm39)	Y853*	probably null	Het
Vrk3	A	T	7: 44,409,220 (GRCm39)	Q129L	possibly damaging	Het
Wapl	T	A	14: 34,458,642 (GRCm39)	C901*	probably null	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
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
R9030:Dgke	UTSW	11	88,941,237 (GRCm39)	missense	possibly damaging	0.91
R9566:Dgke	UTSW	11	88,932,273 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGCAAGTGCACAAATTTTGGC -3'
(R):5'- TGACGCTGATTAAGTAGTTAGCAC -3'

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

Posted On

2016-07-22