Mutagenetix > Incidental Mutations

Incidental Mutation 'R4864:Dgkd'

374714

Institutional Source

Beutler Lab

Gene Symbol

Dgkd

Ensembl Gene

ENSMUSG00000070738

Gene Name

diacylglycerol kinase, delta

Synonyms

dgkd-2, DGKdelta, AI841987, D330025K09

MMRRC Submission

042474-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.762) question?

Stock #

R4864 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87853287-87945180 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87916838 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 242 (N242I)

Ref Sequence

ENSEMBL: ENSMUSP00000027517 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027517]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027517
AA Change: N242I

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000027517
Gene: ENSMUSG00000070738
AA Change: N242I

Domain	Start	End	E-Value	Type
low complexity region	2	36	N/A	INTRINSIC
PH	54	148	1.7e-16	SMART
C1	164	213	2.48e-15	SMART
low complexity region	221	232	N/A	INTRINSIC
C1	236	286	8.56e-10	SMART
DAGKc	321	446	9.44e-62	SMART
low complexity region	691	710	N/A	INTRINSIC
DAGKa	765	922	1.25e-98	SMART
low complexity region	1128	1139	N/A	INTRINSIC
SAM	1148	1214	2.16e-22	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190243

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191589

Meta Mutation Damage Score

0.9069

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

99% (93/94)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytoplasmic enzyme that phosphorylates diacylglycerol to produce phosphatidic acid. Diacylglycerol and phosphatidic acid are two lipids that act as second messengers in signaling cascades. Their cellular concentrations are regulated by the encoded protein, and so it is thought to play an important role in cellular signal transduction. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele are born with open eyelids and reduced body size, develop respiratory distress and die within 24 hrs of birth. Half of mice homozygous for a hypomorphic gene trap allele exhibit abnormal epileptic discharges and seizureswhile 9% of aging homozygotes develop tumors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	C	T	14: 63,973,209	R190H	probably benign	Het
Acp6	T	C	3: 97,159,367		probably null	Het
Adora3	T	A	3: 105,907,815	Y148N	probably damaging	Het
Ahnak2	G	A	12: 112,773,606	S538L	probably damaging	Het
Aox3	T	G	1: 58,176,487	V1026G	probably damaging	Het
Ap3d1	TTCTCTCTCTCTCTCTCT	TTCTCTCTCTCTCTCT	10: 80,712,778		probably null	Het
Arhgef37	G	A	18: 61,494,925	A649V	probably benign	Het
Atp5a1	G	A	18: 77,781,315	R413H	possibly damaging	Het
Bace1	A	T	9: 45,854,811	I179F	probably damaging	Het
Brinp1	A	G	4: 68,798,886	F242L	probably damaging	Het
Brk1	T	C	6: 113,615,844	Y63H	possibly damaging	Het
Ccdc74a	A	G	16: 17,648,872	T148A	probably benign	Het
Cenpc1	T	A	5: 86,045,321	L236F	probably damaging	Het
Col13a1	C	T	10: 61,862,660	E541K	unknown	Het
Copg1	T	A	6: 87,889,696	C44S	probably damaging	Het
D130043K22Rik	A	G	13: 24,863,612	E380G	probably damaging	Het
Dchs1	T	C	7: 105,755,253	D2694G	probably damaging	Het
Dnah2	C	T	11: 69,422,590	V4248I	probably damaging	Het
Dpy19l3	T	A	7: 35,712,182	K376*	probably null	Het
Eef1d	A	G	15: 75,903,406	S135P	possibly damaging	Het
Epc2	T	A	2: 49,537,165	S574T	probably benign	Het
Eps15	G	A	4: 109,366,530		probably benign	Het
Eps8	T	C	6: 137,478,969		probably benign	Het
Exoc5	A	T	14: 49,052,382	V13E	probably benign	Het
Fbn1	A	T	2: 125,372,397	C765S	possibly damaging	Het
Fbxo5	A	T	10: 5,802,392	C74S	probably benign	Het
Fbxw9	T	C	8: 85,065,901	S322P	probably damaging	Het
Fmo5	T	A	3: 97,645,879	I381N	probably damaging	Het
Fmo6	T	C	1: 162,924,395	D175G	probably benign	Het
Gm11127	T	A	17: 36,058,361		probably benign	Het
Gm340	G	T	19: 41,585,364	A853S	probably benign	Het
Gm7361	A	G	5: 26,262,010		probably null	Het
Gm9961	G	A	16: 11,903,035		probably benign	Het
Golga7b	T	A	19: 42,266,966		probably null	Het
Gorab	T	C	1: 163,386,398	E321G	probably benign	Het
Gpx1	T	A	9: 108,339,395	V28E	probably benign	Het
Hist2h3c1	T	C	3: 96,247,259	I125T	probably damaging	Het
Hk1	T	C	10: 62,342,539	S8G	probably benign	Het
Iqsec1	C	T	6: 90,664,056	R1026H	probably damaging	Het
Kdm4b	A	T	17: 56,353,091	Y86F	probably benign	Het
Kprp	C	T	3: 92,824,522	R407Q	unknown	Het
Lamb1	C	T	12: 31,321,006	T1400M	probably benign	Het
Lrriq3	T	A	3: 155,187,810	Y383N	possibly damaging	Het
Map3k21	T	C	8: 125,927,555	I371T	probably benign	Het
Mllt1	A	T	17: 56,905,819	F105I	probably damaging	Het
Nfatc2	A	G	2: 168,536,392	M451T	probably damaging	Het
Nfkbiz	A	C	16: 55,818,424	N224K	probably damaging	Het
Nlrp4d	A	G	7: 10,381,161	V531A	noncoding transcript	Het
Noc3l	A	G	19: 38,789,637	Y778H	probably benign	Het
Nup98	C	A	7: 102,153,196	A734S	possibly damaging	Het
Olfr1016	A	G	2: 85,799,689	Y194H	probably damaging	Het
Olfr700	T	C	7: 106,805,964	Y166C	probably damaging	Het
Olfr730	T	A	14: 50,186,582	I212F	probably damaging	Het
Olfr824	T	A	10: 130,126,887	R57*	probably null	Het
Pate4	A	T	9: 35,608,239	C52S	probably damaging	Het
Pecr	C	A	1: 72,277,331	A72S	probably benign	Het
Pomt1	A	G	2: 32,251,992	N578S	probably benign	Het
Ppm1a	T	C	12: 72,783,964	S88P	probably benign	Het
Ppm1l	T	A	3: 69,542,511		probably benign	Het
Prdm13	A	G	4: 21,685,543	S86P	unknown	Het
Prph2	T	C	17: 46,910,922	S76P	probably benign	Het
Sarnp	G	A	10: 128,833,343	R23H	probably damaging	Het
Sept1	T	C	7: 127,216,892		probably benign	Het
Serpini1	T	C	3: 75,613,174	I26T	probably benign	Het
Setdb2	A	G	14: 59,409,266	I616T	probably benign	Het
Slc2a10	T	C	2: 165,514,621	F67S	probably benign	Het
Slc38a6	T	A	12: 73,343,650		probably null	Het
Smg6	T	C	11: 74,930,162	S420P	possibly damaging	Het
Srp72	T	A	5: 76,984,162	H229Q	probably benign	Het
Ston2	A	G	12: 91,648,674	V320A	possibly damaging	Het
Stx3	A	T	19: 11,777,151	I269N	possibly damaging	Het
Tdg-ps	A	G	15: 82,516,642		noncoding transcript	Het
Tecpr1	T	A	5: 144,214,117	N291I	probably benign	Het
Tmem177	A	G	1: 119,910,823	V42A	probably benign	Het
Trim26	T	A	17: 36,857,994		probably benign	Het
Ttc17	A	G	2: 94,366,635	S456P	probably benign	Het
Tubgcp6	T	C	15: 89,103,818	Y984C	probably benign	Het
Unc5cl	A	G	17: 48,459,844	E82G	possibly damaging	Het
Uncx	T	C	5: 139,544,120	S43P	probably damaging	Het
Vmn1r1	A	G	1: 182,157,767	V111A	probably benign	Het
Vmn1r168	A	G	7: 23,541,482	I255V	probably damaging	Het
Vwce	A	G	19: 10,650,636	T487A	probably benign	Het
Xaf1	A	G	11: 72,306,856		probably benign	Het
Zfp27	G	T	7: 29,894,836	P568Q	probably damaging	Het
Zfp382	A	T	7: 30,133,460	I179F	possibly damaging	Het

Other mutations in Dgkd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01529:Dgkd	APN	1	87880411	missense	probably damaging	1.00
IGL01531:Dgkd	APN	1	87880411	missense	probably damaging	1.00
IGL01627:Dgkd	APN	1	87880428	missense	probably damaging	1.00
IGL01720:Dgkd	APN	1	87936765	missense	probably damaging	1.00
IGL01915:Dgkd	APN	1	87926058	missense	possibly damaging	0.86
IGL01941:Dgkd	APN	1	87924559	missense	probably damaging	0.99
IGL01951:Dgkd	APN	1	87916916	missense	probably damaging	1.00
IGL02244:Dgkd	APN	1	87915141	missense	probably benign	0.27
IGL02581:Dgkd	APN	1	87918002	splice site	probably benign
IGL02852:Dgkd	APN	1	87935413	missense	probably damaging	1.00
IGL02893:Dgkd	APN	1	87915208	splice site	probably benign
IGL03367:Dgkd	APN	1	87940308	critical splice donor site	probably null
R0014:Dgkd	UTSW	1	87881881	missense	probably damaging	1.00
R0016:Dgkd	UTSW	1	87917952	missense	probably benign	0.02
R0219:Dgkd	UTSW	1	87938274	splice site	probably benign
R0496:Dgkd	UTSW	1	87936900	missense	probably null	0.83
R0559:Dgkd	UTSW	1	87915104	missense	probably damaging	1.00
R0591:Dgkd	UTSW	1	87915104	missense	probably damaging	1.00
R1270:Dgkd	UTSW	1	87934125	missense	probably damaging	0.96
R1599:Dgkd	UTSW	1	87881886	missense	possibly damaging	0.58
R1658:Dgkd	UTSW	1	87926268	missense	probably damaging	1.00
R1745:Dgkd	UTSW	1	87932044	critical splice donor site	probably null
R1959:Dgkd	UTSW	1	87929827	missense	possibly damaging	0.47
R1960:Dgkd	UTSW	1	87929827	missense	possibly damaging	0.47
R2044:Dgkd	UTSW	1	87927691	missense	probably benign
R2148:Dgkd	UTSW	1	87881921	missense	probably damaging	1.00
R2232:Dgkd	UTSW	1	87929742	missense	probably benign	0.05
R2266:Dgkd	UTSW	1	87927818	unclassified	probably benign
R3774:Dgkd	UTSW	1	87936300	missense	probably damaging	1.00
R4004:Dgkd	UTSW	1	87935423	missense	possibly damaging	0.56
R4005:Dgkd	UTSW	1	87935423	missense	possibly damaging	0.56
R4133:Dgkd	UTSW	1	87941501	critical splice donor site	probably null
R4235:Dgkd	UTSW	1	87931982	nonsense	probably null
R4644:Dgkd	UTSW	1	87936294	missense	probably damaging	1.00
R4747:Dgkd	UTSW	1	87934167	missense	probably damaging	1.00
R5334:Dgkd	UTSW	1	87938267	critical splice donor site	probably null
R5365:Dgkd	UTSW	1	87935416	missense	probably damaging	1.00
R5495:Dgkd	UTSW	1	87926872	missense	probably damaging	1.00
R5514:Dgkd	UTSW	1	87934110	missense	probably damaging	1.00
R5729:Dgkd	UTSW	1	87936332	nonsense	probably null
R5766:Dgkd	UTSW	1	87880449	nonsense	probably null
R6133:Dgkd	UTSW	1	87938240	missense	possibly damaging	0.93
R6137:Dgkd	UTSW	1	87936381	missense	possibly damaging	0.48
R6198:Dgkd	UTSW	1	87924208	missense	probably damaging	1.00
R6297:Dgkd	UTSW	1	87926144	missense	possibly damaging	0.94
R6577:Dgkd	UTSW	1	87940240	missense	probably damaging	1.00
R6846:Dgkd	UTSW	1	87925691	splice site	probably null
R6905:Dgkd	UTSW	1	87935375	missense	probably damaging	1.00
R7369:Dgkd	UTSW	1	87921622	missense	probably damaging	1.00
R7763:Dgkd	UTSW	1	87926949	missense	probably benign
R7921:Dgkd	UTSW	1	87924084	missense	probably damaging	0.98
R8087:Dgkd	UTSW	1	87916847	missense	probably damaging	1.00
R8119:Dgkd	UTSW	1	87917967	missense	possibly damaging	0.78
Z1176:Dgkd	UTSW	1	87927810	missense	probably benign	0.05
Z1177:Dgkd	UTSW	1	87916886	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGTCTCCTTCCCAGTAGGTG -3'
(R):5'- CTCTGGGGTAAACTCAGGAAGG -3'

Sequencing Primer
(F):5'- GTACCTCATAGGCCCTGCATG -3'
(R):5'- GAGAAGAACAGAGCCCCAAGC -3'

Posted On

2016-03-17