Mutagenetix > Incidental Mutations

Incidental Mutation 'R2266:Dgkd'

242000

Institutional Source

Beutler Lab

Gene Symbol

Dgkd

Ensembl Gene

ENSMUSG00000070738

Gene Name

diacylglycerol kinase, delta

Synonyms

dgkd-2, DGKdelta, AI841987, D330025K09

MMRRC Submission

040266-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.762) question?

Stock #

R2266 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87853287-87945180 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 87927818 bp

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000027517

SMART Domains

Protein: ENSMUSP00000027517
Gene: ENSMUSG00000070738

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

probably benign
Transcript: ENSMUST00000185260

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.3%

Validation Efficiency

100% (68/68)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578C19Rik	A	G	X: 18,423,687	S179P	possibly damaging	Het
Aadac	T	A	3: 60,037,316	D136E	probably damaging	Het
Agrn	C	T	4: 156,179,218	G173R	probably damaging	Het
AI314180	A	T	4: 58,830,332		probably null	Het
Apob	T	C	12: 8,015,475	F4115S	possibly damaging	Het
Bsn	T	A	9: 108,115,124	D1143V	probably damaging	Het
Cacna2d2	T	C	9: 107,513,280	V317A	probably damaging	Het
Cdh1	G	A	8: 106,662,003	V564I	probably benign	Het
Cep250	T	C	2: 155,976,170	V814A	probably benign	Het
Ces2a	A	T	8: 104,740,190	I65F	probably benign	Het
Commd8	A	G	5: 72,165,422	W51R	probably damaging	Het
Cyb561d1	A	T	3: 108,199,404	H166Q	probably damaging	Het
Dcun1d4	T	A	5: 73,481,275		probably benign	Het
Dnajc28	T	C	16: 91,616,312	N372S	probably benign	Het
Eid1	A	G	2: 125,673,424	D78G	possibly damaging	Het
Emid1	T	A	11: 5,144,331	Q60L	probably damaging	Het
Fam135a	A	T	1: 24,028,797	V801E	probably benign	Het
Foxh1	A	G	15: 76,668,620	V298A	probably benign	Het
Foxn4	T	C	5: 114,255,601	T486A	probably damaging	Het
Gpc6	A	T	14: 117,888,520		probably null	Het
Grid2ip	C	T	5: 143,386,092	P690L	probably benign	Het
Hdhd2	C	T	18: 76,965,170	T172M	probably benign	Het
Hist1h2bh	T	C	13: 23,542,992	K121E	possibly damaging	Het
Hr	A	T	14: 70,558,107	D393V	probably benign	Het
Ido2	T	C	8: 24,535,252	Y253C	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 52,725,906		probably benign	Het
Klra10	A	G	6: 130,269,301	V237A	probably benign	Het
Klre1	A	G	6: 129,585,630	K206R	probably benign	Het
Lama2	T	C	10: 26,986,797	D2990G	probably benign	Het
Magi3	G	A	3: 104,021,066		probably benign	Het
Mamdc2	A	T	19: 23,303,903		probably benign	Het
Med23	T	G	10: 24,874,601	S109A	probably benign	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Mtss1l	A	G	8: 110,728,730	K92E	possibly damaging	Het
Mybphl	A	G	3: 108,365,001	E2G	probably damaging	Het
Naip6	A	G	13: 100,283,559	V1401A	possibly damaging	Het
Ncapg2	A	G	12: 116,429,676	E500G	probably damaging	Het
Nlrp12	T	C	7: 3,233,945	I775V	probably benign	Het
Nr4a2	T	A	2: 57,112,006	D145V	possibly damaging	Het
Ntmt1	C	A	2: 30,820,460	N58K	probably benign	Het
P2ry13	T	C	3: 59,210,028	M110V	probably damaging	Het
P2ry14	T	C	3: 59,115,571	N165S	probably damaging	Het
Plch2	T	C	4: 154,993,004	E423G	probably benign	Het
Polq	C	A	16: 37,062,153	Q1560K	possibly damaging	Het
Prrc1	G	T	18: 57,381,646	D312Y	probably damaging	Het
Ptprm	A	T	17: 66,725,851		probably null	Het
Ripk2	A	T	4: 16,152,011	S183T	possibly damaging	Het
Robo1	T	A	16: 72,978,772	F728L	probably benign	Het
Rttn	A	G	18: 89,064,171	N1407S	probably benign	Het
Sec14l1	A	T	11: 117,156,488	H664L	probably damaging	Het
Slc10a7	G	A	8: 78,509,635	G21S	probably benign	Het
Slc35a3	T	C	3: 116,673,636	K325E	possibly damaging	Het
Spag17	C	A	3: 100,061,866		probably null	Het
Spesp1	A	T	9: 62,273,552	L25M	probably damaging	Het
St6galnac1	G	A	11: 116,767,847	Q264*	probably null	Het
Tbc1d14	A	G	5: 36,543,217	L269P	possibly damaging	Het
Tgfbr3l	A	G	8: 4,250,506	E228G	probably benign	Het
Tlr5	T	A	1: 182,975,035	S635T	possibly damaging	Het
Tmem233	G	C	5: 116,051,458		probably benign	Het
Tnfsf13b	A	T	8: 10,007,306	R125S	probably benign	Het
Tymp	A	T	15: 89,373,808	V378D	probably damaging	Het
Vmn1r38	G	T	6: 66,776,449	Q228K	probably benign	Het
Vmn2r18	T	C	5: 151,586,662	E82G	probably damaging	Het
Vps13c	T	C	9: 67,920,947	V1461A	possibly damaging	Het
Xrn1	A	G	9: 96,006,712	D948G	possibly damaging	Het
Zfp280d	C	A	9: 72,301,770		probably benign	Het
Zfp418	G	A	7: 7,182,808	R590K	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
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
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'- GCTCTGCTTTGGACAGTGTC -3'
(R):5'- CTATTCCTTCCAAGACCCACGG -3'

Sequencing Primer
(F):5'- ACAGTGTCAAGTGTGTTGTCC -3'
(R):5'- ACGGTGCCATAAGCTCAG -3'

Posted On

2014-10-16