Mutagenetix > Incidental Mutations

Incidental Mutation 'R0219:Dgkd'

33698

Institutional Source

Beutler Lab

Gene Symbol

Dgkd

Ensembl Gene

ENSMUSG00000070738

Gene Name

diacylglycerol kinase, delta

Synonyms

dgkd-2, DGKdelta, AI841987, D330025K09

MMRRC Submission

038468-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.762) question?

Stock #

R0219 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87853287-87945180 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 87938274 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139658 (fasta)

Gene Model

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

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

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: 98.6%
10x: 97.1%
20x: 95.3%

Validation Efficiency

98% (65/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	T	12: 118,886,150		probably benign	Het
Acacb	T	A	5: 114,232,944	M1749K	possibly damaging	Het
Aff1	GCTCTCTCTC	GCTCTCTCTCTC	5: 103,811,040		probably benign	Het
Ankle2	C	T	5: 110,251,645	R624*	probably null	Het
Bcl2	G	A	1: 106,712,562	R107C	probably damaging	Het
Brca2	A	G	5: 150,523,175		probably benign	Het
Ccdc116	T	A	16: 17,141,612	R404S	possibly damaging	Het
Ccdc171	A	G	4: 83,696,441		probably benign	Het
Ccdc80	A	G	16: 45,096,483	K534R	probably damaging	Het
Ccna1	T	C	3: 55,050,927	I112V	probably benign	Het
Cdhr1	A	C	14: 37,079,601	L795R	possibly damaging	Het
Cilp	C	A	9: 65,269,590	L43I	possibly damaging	Het
Dclk2	T	C	3: 86,813,669		probably benign	Het
Ddx59	C	A	1: 136,432,309		probably benign	Het
Dicer1	A	G	12: 104,692,125		probably null	Het
Dst	T	G	1: 34,303,478	S5030A	probably damaging	Het
Dysf	G	A	6: 84,129,461		probably benign	Het
Farp1	C	A	14: 121,243,600	P471Q	possibly damaging	Het
Fbp2	A	T	13: 62,854,048	F118I	probably damaging	Het
Fcer1g	A	G	1: 171,231,226	V31A	possibly damaging	Het
Glb1l2	A	G	9: 26,806,322	V21A	probably benign	Het
Gm9912	T	C	3: 149,185,495	I1V	unknown	Het
Guf1	G	A	5: 69,559,586	A164T	probably damaging	Het
Hbb-bs	T	C	7: 103,826,669	H147R	possibly damaging	Het
Hnrnpr	T	A	4: 136,339,163		probably benign	Het
Iglon5	A	T	7: 43,476,837	V214E	probably damaging	Het
Isx	C	A	8: 74,889,961		probably null	Het
Kank4	T	C	4: 98,778,465	N582D	probably benign	Het
Kcp	T	A	6: 29,495,785	R773W	probably damaging	Het
Kdm4c	T	C	4: 74,373,620	C825R	probably damaging	Het
Krt25	G	A	11: 99,318,059	T315M	probably benign	Het
Lrp5	A	T	19: 3,597,349	S1298T	probably damaging	Het
Map3k10	T	C	7: 27,656,731	D921G	probably damaging	Het
Mrgprx1	C	A	7: 48,021,546	W151L	probably damaging	Het
Mylk3	T	A	8: 85,355,244	D375V	probably damaging	Het
Nav3	C	T	10: 109,866,930		probably null	Het
Ncan	A	G	8: 70,115,334	S43P	probably benign	Het
Necab3	G	T	2: 154,546,093	Q292K	probably benign	Het
Nptx2	T	C	5: 144,548,140	S148P	probably damaging	Het
Olfr414	G	A	1: 174,430,466	V13I	probably benign	Het
Olfr520	A	T	7: 99,735,928	I262L	probably benign	Het
Pde6a	A	G	18: 61,285,935	E794G	possibly damaging	Het
Pus7	T	C	5: 23,775,966	Y133C	possibly damaging	Het
Rad21l	A	G	2: 151,654,588		probably benign	Het
Rptor	A	T	11: 119,821,777		probably benign	Het
Sart1	C	A	19: 5,388,396	A78S	probably benign	Het
Shkbp1	T	C	7: 27,352,061	E191G	probably benign	Het
Slc6a18	A	T	13: 73,674,632		probably null	Het
Stxbp5	T	C	10: 9,770,528	T147A	probably benign	Het
Sv2b	A	G	7: 75,157,267		probably null	Het
Syne2	A	T	12: 76,042,004	K5045N	probably damaging	Het
Tmem174	A	C	13: 98,636,839	M161R	possibly damaging	Het
Tmprss7	A	G	16: 45,656,457	V814A	probably damaging	Het
Togaram2	T	C	17: 71,714,230		probably benign	Het
Tpr	T	C	1: 150,443,258		probably null	Het
Ttn	T	C	2: 76,900,228		probably benign	Het
Ubr4	T	A	4: 139,430,257	L2375Q	possibly damaging	Het
Utp20	T	C	10: 88,764,675	E1987G	probably damaging	Het
Utrn	T	C	10: 12,684,451	T1365A	probably damaging	Het
Vmn2r116	T	A	17: 23,386,098	Y128*	probably null	Het
Vmn2r5	A	G	3: 64,504,313	V278A	probably damaging	Het
Vps13d	C	T	4: 145,105,909	S2809N	probably benign	Het
Zfp212	G	A	6: 47,926,685	R68H	probably damaging	Het
Zfp442	A	T	2: 150,411,240	L33Q	probably damaging	Het
Zfp629	T	C	7: 127,612,083	S185G	probably damaging	Het
Zfp738	A	G	13: 67,683,389		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
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
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'- ACTGAGAGGTCATCATTGGCAAAGC -3'
(R):5'- GGTTATCAACTCACCAGGGCCATC -3'

Sequencing Primer
(F):5'- ATTGGCAAAGCTACTATCTCCACTG -3'
(R):5'- AGGGCCATCTTCCCAGC -3'

Posted On

2013-05-09