Mutagenetix > Incidental Mutations

Incidental Mutation 'R0591:Dgkd'

55953

Institutional Source

Beutler Lab

Gene Symbol

Dgkd

Ensembl Gene

ENSMUSG00000070738

Gene Name

diacylglycerol kinase, delta

Synonyms

dgkd-2, DGKdelta, AI841987, D330025K09

MMRRC Submission

038781-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.701) question?

Stock #

R0591 (G1)

Quality Score

169

Status

Validated

Chromosome

Chromosomal Location

87853287-87945180 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87915104 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 118 (I118N)

Ref Sequence

ENSEMBL: ENSMUSP00000027517 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000027517
AA Change: I118N

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

SMART Domains

Protein: ENSMUSP00000027517
Gene: ENSMUSG00000070738
AA Change: I118N

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

0.6467

Coding Region Coverage

1x: 99.7%
3x: 99.2%
10x: 97.7%
20x: 95.3%

Validation Efficiency

100% (62/62)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	T	3: 138,068,943	E1298*	probably null	Het
Adam19	T	C	11: 46,121,411		probably benign	Het
Agt	A	T	8: 124,556,939	S480R	possibly damaging	Het
Anapc1	G	T	2: 128,619,332	D1769E	probably benign	Het
Aox4	T	C	1: 58,239,102		probably benign	Het
Apol9b	G	A	15: 77,735,630	V209I	possibly damaging	Het
Appl2	A	T	10: 83,624,645	I116K	possibly damaging	Het
B230118H07Rik	A	T	2: 101,576,117	D155E	probably benign	Het
BC051665	A	G	13: 60,784,608		probably benign	Het
Cactin	G	T	10: 81,324,003	E89*	probably null	Het
Carf	G	T	1: 60,125,914		probably benign	Het
Ccdc167	A	G	17: 29,705,261		probably benign	Het
Ceacam3	G	A	7: 17,151,883		probably null	Het
Clca4b	T	A	3: 144,915,592	K574*	probably null	Het
Crabp1	T	A	9: 54,765,603	I64N	probably damaging	Het
Dglucy	T	C	12: 100,859,518		probably benign	Het
Dock10	C	T	1: 80,541,219		probably benign	Het
Ednrb	A	T	14: 103,823,274		probably null	Het
Ercc6	T	C	14: 32,558,016		probably benign	Het
Gm5538	C	A	3: 59,752,129	Y334*	probably null	Het
Golga3	A	C	5: 110,188,743	Q416P	probably damaging	Het
Gpr12	A	G	5: 146,583,635	V159A	probably benign	Het
Heatr5a	A	T	12: 51,910,101		probably benign	Het
Helz2	A	G	2: 181,232,116	I2195T	probably damaging	Het
Hikeshi	A	T	7: 89,920,087	N76K	possibly damaging	Het
Hsd11b1	T	C	1: 193,229,676		probably benign	Het
Inhba	A	T	13: 16,026,820	K322N	probably damaging	Het
Katnal1	A	T	5: 148,892,516	F291L	probably damaging	Het
Kcnj9	T	C	1: 172,323,098	E316G	probably damaging	Het
Lrsam1	A	G	2: 32,933,923		probably benign	Het
Mcf2l	T	G	8: 13,018,751	S1075A	probably benign	Het
Mios	T	C	6: 8,215,470	V222A	possibly damaging	Het
Mycbp2	A	T	14: 103,196,391		probably benign	Het
Nars	A	T	18: 64,500,567	I544N	probably damaging	Het
Olfr993	A	G	2: 85,414,690	L63P	possibly damaging	Het
Pbrm1	A	G	14: 31,046,430		probably benign	Het
Plcb4	A	G	2: 135,955,012		probably benign	Het
Pnliprp1	A	G	19: 58,734,706	D213G	probably damaging	Het
Psap	A	G	10: 60,300,855	N538D	possibly damaging	Het
Ptdss1	A	G	13: 66,972,650		probably benign	Het
Rap1b	G	A	10: 117,818,617		probably benign	Het
Rhcg	T	A	7: 79,594,772		probably benign	Het
Ryr1	G	A	7: 29,104,795	T550I	possibly damaging	Het
Samm50	G	A	15: 84,211,168	G452R	probably benign	Het
Scin	A	G	12: 40,080,930		probably null	Het
Sesn3	T	C	9: 14,308,558	L81S	probably damaging	Het
Skint6	A	C	4: 112,858,169		probably benign	Het
Slc30a4	A	T	2: 122,685,240	L411H	probably damaging	Het
Slc44a5	C	T	3: 154,234,145		probably benign	Het
Slc4a3	C	T	1: 75,549,021	A255V	probably damaging	Het
Slc9b1	A	G	3: 135,382,832	N318S	possibly damaging	Het
Tcp11l2	A	T	10: 84,604,594	H287L	probably benign	Het
Tex10	C	T	4: 48,456,800	R637Q	probably benign	Het
Tnks2	T	A	19: 36,872,562	Y605N	probably damaging	Het
Topbp1	T	A	9: 103,349,838	N1490K	probably benign	Het
Ube4b	T	G	4: 149,357,577		probably benign	Het
Usp4	G	A	9: 108,348,029		probably benign	Het
Vezf1	A	T	11: 88,068,435		probably benign	Het
Vmn1r184	A	T	7: 26,267,075	D82V	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- GTGGATAGCAAATGGAATGCCATTGAC -3'
(R):5'- AAGACAAATGCTGGGGTCCACTGG -3'

Sequencing Primer
(F):5'- ccaaaggcaaacaggagaag -3'
(R):5'- GTCCACTGGGAAGATACTCTG -3'

Posted On

2013-07-11