Mutagenetix > Incidental Mutations

Incidental Mutation 'R5514:Dgkd'

440206

Institutional Source

Beutler Lab

Gene Symbol

Dgkd

Ensembl Gene

ENSMUSG00000070738

Gene Name

diacylglycerol kinase, delta

Synonyms

dgkd-2, DGKdelta, AI841987, D330025K09

MMRRC Submission

043074-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.580) question?

Stock #

R5514 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87853287-87945180 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87934110 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 796 (R796G)

Ref Sequence

ENSEMBL: ENSMUSP00000027517 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027517] [ENSMUST00000189448] [ENSMUST00000190061]

Predicted Effect

probably damaging
Transcript: ENSMUST00000027517
AA Change: R796G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027517
Gene: ENSMUSG00000070738
AA Change: R796G

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

unknown
Transcript: ENSMUST00000185260
AA Change: R22G

Predicted Effect

probably benign
Transcript: ENSMUST00000189448

SMART Domains

Protein: ENSMUSP00000139626
Gene: ENSMUSG00000070738

Domain	Start	End	E-Value	Type
low complexity region	82	93	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189726

Predicted Effect

probably benign
Transcript: ENSMUST00000190061

SMART Domains

Protein: ENSMUSP00000139658
Gene: ENSMUSG00000070738

Domain	Start	End	E-Value	Type
DAGKa	1	95	7.6e-26	SMART
Blast:DAGKa	119	188	1e-23	BLAST
low complexity region	301	312	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam17	T	C	12: 21,340,519	S382G	probably damaging	Het
Agr2	G	A	12: 35,996,091	V74I	probably benign	Het
Aldh3a1	T	C	11: 61,218,041	S423P	probably damaging	Het
Ampd1	C	T	3: 103,079,172	H56Y	possibly damaging	Het
Arhgef2	C	A	3: 88,642,997	P670T	probably benign	Het
Blk	T	G	14: 63,378,481	D333A	probably damaging	Het
Bmi1	T	C	2: 18,681,903	I31T	probably damaging	Het
Cacna1d	G	A	14: 30,350,833	Q62*	probably null	Het
Ccdc88c	A	G	12: 100,913,439	S1801P	probably damaging	Het
Cdkal1	C	T	13: 29,777,287	A100T	probably damaging	Het
Chst4	G	T	8: 110,029,974	S419Y	probably damaging	Het
Cntn4	T	C	6: 106,672,883	I680T	probably damaging	Het
Ddx55	T	C	5: 124,556,812	V101A	probably damaging	Het
Ddx60	A	T	8: 61,958,057	E451V	probably damaging	Het
Dffa	T	A	4: 149,106,315		probably null	Het
Dzank1	T	A	2: 144,481,685	M614L	probably benign	Het
Elf2	G	T	3: 51,308,134	Q52K	probably damaging	Het
Fcamr	T	A	1: 130,814,056	L522Q	probably damaging	Het
Fscn2	T	C	11: 120,368,032	Y468H	probably damaging	Het
Gm12689	T	C	4: 99,296,165	I85T	unknown	Het
Gm4787	A	G	12: 81,378,328	V352A	possibly damaging	Het
Gtsf1	T	C	15: 103,428,375	Q13R	probably benign	Het
Itpkb	G	A	1: 180,413,909	V715M	probably damaging	Het
Jmjd1c	T	A	10: 67,218,149	S263T	probably damaging	Het
Krba1	T	G	6: 48,413,495	L736R	probably damaging	Het
Lrrc8d	C	G	5: 105,812,784	F353L	probably damaging	Het
Lrrc8d	G	A	5: 105,812,785	E354K	probably benign	Het
Mtor	T	A	4: 148,546,444	V2286E	probably damaging	Het
Mybbp1a	T	A	11: 72,450,636	V1100E	possibly damaging	Het
Myo5a	G	A	9: 75,153,766	G518D	probably damaging	Het
Nalcn	A	T	14: 123,283,711	I1594N	probably benign	Het
Nav1	C	G	1: 135,470,561	G761A	probably benign	Het
Ncoa2	A	T	1: 13,181,221	L276H	probably damaging	Het
Ndufaf7	T	C	17: 78,937,622	Y57H	probably damaging	Het
Nfkb2	A	G	19: 46,311,408	Y807C	probably damaging	Het
Nid2	A	T	14: 19,802,467	Q1081L	probably damaging	Het
Nkain2	T	A	10: 31,951,193	I134F	probably damaging	Het
Nmu	A	C	5: 76,350,132	S69A	probably damaging	Het
Olfr1086	T	C	2: 86,676,881	I151V	probably benign	Het
Olfr1229	A	T	2: 89,282,473	I220N	probably damaging	Het
Pard3	A	G	8: 127,426,605	R886G	probably damaging	Het
Pde6b	G	T	5: 108,423,451	Q423H	probably benign	Het
Pip5k1b	A	T	19: 24,350,141	D450E	probably damaging	Het
Plcg1	T	C	2: 160,753,355		probably null	Het
Pnpt1	T	C	11: 29,153,246	S504P	possibly damaging	Het
Pomt2	A	T	12: 87,129,023	D312E	probably damaging	Het
Ppp1r1b	T	C	11: 98,355,402	L70P	probably damaging	Het
Prr5	C	A	15: 84,702,895	P282Q	probably benign	Het
Reln	A	T	5: 21,971,885	W1928R	possibly damaging	Het
Sacm1l	A	T	9: 123,586,354	R465*	probably null	Het
Sema7a	A	G	9: 57,955,763	Y239C	probably damaging	Het
Slc35e2	C	T	4: 155,610,026	P10L	probably benign	Het
Svep1	T	C	4: 58,044,054	T3531A	possibly damaging	Het
Tjp1	A	T	7: 65,354,861	W19R	probably damaging	Het
Tmc2	T	A	2: 130,241,644	M507K	possibly damaging	Het
Unc13a	A	G	8: 71,643,151	Y1241H	probably damaging	Het
Upp1	C	T	11: 9,131,771	P103S	probably damaging	Het
Vldlr	A	G	19: 27,244,224	E663G	probably damaging	Het
Vmn2r68	G	A	7: 85,237,559	T49I	possibly damaging	Het
Wdr66	G	T	5: 123,287,766		probably null	Het
Xirp2	A	T	2: 67,505,121	M95L	probably benign	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
R4864:Dgkd	UTSW	1	87916838	missense	possibly damaging	0.94
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
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
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'- TCTAGAAGTGTGGCAGACAAGC -3'
(R):5'- CCTAGCACCAATTTAATATGCTGG -3'

Sequencing Primer
(F):5'- TGGCAGACAAGCGACTTCTG -3'
(R):5'- GCACCAATTTAATATGCTGGGCCTG -3'

Posted On

2016-11-08