Mutagenetix > Incidental Mutations

Incidental Mutation 'R4747:Dgkd'

357147

Institutional Source

Beutler Lab

Gene Symbol

Dgkd

Ensembl Gene

ENSMUSG00000070738

Gene Name

diacylglycerol kinase, delta

Synonyms

dgkd-2, DGKdelta, AI841987, D330025K09

MMRRC Submission

042029-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.762) question?

Stock #

R4747 (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 87934167 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 815 (T815A)

Ref Sequence

ENSEMBL: ENSMUSP00000027517 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000027517
AA Change: T815A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027517
Gene: ENSMUSG00000070738
AA Change: T815A

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: T41A

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: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	A	T	6: 149,326,894	E479D	probably damaging	Het
4933402D24Rik	A	G	1: 63,756,409		probably benign	Het
Acadvl	G	T	11: 70,012,508	N340K	probably damaging	Het
Adgrl4	T	A	3: 151,507,440	N372K	probably benign	Het
Adh1	G	A	3: 138,288,881	G321S	probably damaging	Het
Ankrd26	G	T	6: 118,527,757	N730K	probably benign	Het
Aoc2	A	T	11: 101,328,820		probably null	Het
Arhgef4	A	G	1: 34,723,274	E537G	unknown	Het
Ccdc7b	T	C	8: 129,178,235	V118A	probably benign	Het
Ccdc88b	T	A	19: 6,856,141	R219W	probably damaging	Het
Ccdc97	T	C	7: 25,718,923		probably null	Het
Cnot1	T	C	8: 95,774,682	N86S	probably benign	Het
Comp	T	C	8: 70,376,702	C310R	probably damaging	Het
Crtc2	A	T	3: 90,260,211	N281Y	probably damaging	Het
Cryl1	T	C	14: 57,313,102	K102E	probably damaging	Het
Csf2ra	G	A	19: 61,226,053	R225*	probably null	Het
Dao	A	T	5: 114,012,632	D99V	probably benign	Het
Dhrs7	T	C	12: 72,653,118	T247A	probably benign	Het
Dnah7c	G	C	1: 46,533,168	D934H	probably damaging	Het
Dnajc15	T	C	14: 77,844,456	Y82C	probably benign	Het
Dnajc4	T	C	19: 6,989,504	Q152R	probably damaging	Het
Dsc1	T	C	18: 20,094,558	K541R	probably damaging	Het
Elp4	G	A	2: 105,794,607	R196C	probably damaging	Het
Epha8	GC	G	4: 136,938,695		probably null	Het
Ercc6	T	C	14: 32,569,907	V1076A	probably benign	Het
Fgd4	T	C	16: 16,423,929	Y677C	probably damaging	Het
Fndc3b	C	A	3: 27,428,965	C1028F	probably damaging	Het
Folr1	T	A	7: 101,863,977	D37V	probably damaging	Het
Gabrr3	T	A	16: 59,447,914		probably null	Het
Garem1	C	A	18: 21,129,943	V605L	probably benign	Het
Gbp7	A	T	3: 142,543,017	D347V	probably damaging	Het
Gdpd4	A	G	7: 97,961,633	T87A	possibly damaging	Het
Gm12258	C	A	11: 58,859,596	H532Q	probably damaging	Het
Gm4788	A	T	1: 139,698,184	C792S	probably damaging	Het
Herc2	A	G	7: 56,106,393	E727G	possibly damaging	Het
Hfm1	G	A	5: 106,917,523	H97Y	probably benign	Het
Idua	G	T	5: 108,681,036	R335L	probably damaging	Het
Ifi207	A	G	1: 173,729,067	S702P	probably benign	Het
Kif16b	A	T	2: 142,857,426	V78D	probably damaging	Het
Klra17	T	A	6: 129,872,269	D114V	probably damaging	Het
Krt76	A	G	15: 101,885,745	S481P	probably damaging	Het
Lhfpl5	A	G	17: 28,579,976	D153G	probably damaging	Het
Med21	T	A	6: 146,649,202	D70E	possibly damaging	Het
Mroh3	A	T	1: 136,185,499	M739K	probably benign	Het
Myo1a	A	G	10: 127,714,438	E549G	probably damaging	Het
Narfl	A	T	17: 25,780,353	Y247F	probably benign	Het
Neu1	A	G	17: 34,934,383	D294G	possibly damaging	Het
Nmur2	A	T	11: 56,040,279	I202K	probably benign	Het
Nop2	T	A	6: 125,137,094	D174E	probably benign	Het
Ogfr	A	T	2: 180,594,423	H267L	probably damaging	Het
Olfr1031	A	G	2: 85,991,927	T37A	probably damaging	Het
Olfr796	G	T	10: 129,608,184	A99E	possibly damaging	Het
P2ry13	T	A	3: 59,209,887	I157F	probably benign	Het
Pank4	T	C	4: 154,979,532	V660A	probably damaging	Het
Pax6	C	A	2: 105,696,502	P251Q	probably benign	Het
Pcdhb13	T	C	18: 37,444,815	Y749H	probably damaging	Het
Pcdhga3	C	A	18: 37,676,746	Q751K	probably benign	Het
Pcnt	C	T	10: 76,436,465	E186K	possibly damaging	Het
Pecam1	A	T	11: 106,684,246	F613I	probably benign	Het
Pias2	T	C	18: 77,152,792	*615Q	probably null	Het
Plb1	A	T	5: 32,349,659	M1193L	probably benign	Het
Pomgnt1	T	C	4: 116,156,199	L506P	probably damaging	Het
Qrfp	T	C	2: 31,808,840	T27A	probably damaging	Het
Relb	C	A	7: 19,627,922		probably null	Het
Rgl1	G	T	1: 152,524,699	C685*	probably null	Het
Ric8b	A	G	10: 84,917,764	Y8C	probably benign	Het
Rrp36	G	A	17: 46,669,967	A161V	possibly damaging	Het
Samd9l	G	A	6: 3,375,504	Q586*	probably null	Het
Sbf1	C	T	15: 89,302,713	D821N	probably damaging	Het
Sept8	G	C	11: 53,536,718	A255P	probably damaging	Het
Skp2	T	C	15: 9,113,839	T329A	possibly damaging	Het
Slc15a2	C	T	16: 36,772,136	V220M	probably damaging	Het
Slc25a11	T	A	11: 70,645,956	T63S	possibly damaging	Het
Sowahc	T	C	10: 59,223,161	I373T	probably benign	Het
Sptbn2	T	A	19: 4,748,154	M1969K	probably benign	Het
St14	G	A	9: 31,103,757	T315M	possibly damaging	Het
Tagap	G	A	17: 7,932,198	R284H	probably benign	Het
Tdpoz3	T	A	3: 93,826,169	S50R	possibly damaging	Het
Thoc5	A	G	11: 4,904,187	D182G	probably damaging	Het
Tinag	A	G	9: 76,996,956	V395A	probably benign	Het
Tmc8	A	G	11: 117,792,724	S702G	probably benign	Het
Tmem202	A	G	9: 59,519,194	S230P	possibly damaging	Het
Tmem203	T	C	2: 25,255,752	V28A	probably benign	Het
Traf3ip1	A	T	1: 91,527,757	S647C	probably damaging	Het
Tram1	A	T	1: 13,589,646	I26N	probably damaging	Het
Ttc6	A	T	12: 57,674,692	D989V	possibly damaging	Het
Ttll6	A	G	11: 96,145,546	T334A	possibly damaging	Het
Ttn	A	T	2: 76,919,742	D3654E	probably damaging	Het
Ufd1	T	G	16: 18,821,082	V112G	probably damaging	Het
Usp9y	A	T	Y: 1,391,284	Y629N	possibly damaging	Het
Vmn2r1	A	G	3: 64,081,846	I69V	probably benign	Het
Zfp180	A	T	7: 24,105,821	Y555F	probably damaging	Het
Zfp438	T	C	18: 5,214,403	N185S	probably benign	Het
Zfp445	C	T	9: 122,857,150	V15I	possibly damaging	Het
Zfp462	A	G	4: 55,013,476	E1814G	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
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'- CAGACAAGCGACTTCTGTCC -3'
(R):5'- GTATGTGCCAGTTCTTCCTAGCAC -3'

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

Posted On

2015-11-11