Mutagenetix > Incidental Mutation

Incidental Mutation 'R2044:Dgkd'

221560

Institutional Source

Beutler Lab

Gene Symbol

Dgkd

Ensembl Gene

ENSMUSG00000070738

Gene Name

diacylglycerol kinase, delta

Synonyms

dgkd-2, DGKdelta, AI841987, D330025K09

MMRRC Submission

040051-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.798) question?

Stock #

R2044 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87853287-87945180 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 87927691 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Lysine at position 685 (R685K)

Ref Sequence

ENSEMBL: ENSMUSP00000027517 (fasta)

Gene Model

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

AlphaFold

E9PUQ8

Predicted Effect

probably benign
Transcript: ENSMUST00000027517
AA Change: R685K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000027517
Gene: ENSMUSG00000070738
AA Change: R685K

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.7%

Validation Efficiency

98% (92/94)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410137M14Rik	G	A	17: 36,978,094 (GRCm38)		probably benign	Het
Abhd15	A	G	11: 77,518,338 (GRCm38)	T293A	probably benign	Het
Aldh1l1	C	T	6: 90,562,665 (GRCm38)	P192L	probably benign	Het
Aldoart1	T	G	4: 72,852,542 (GRCm38)	I10L	probably benign	Het
Ankhd1	G	A	18: 36,645,113 (GRCm38)	G1653D	probably benign	Het
Ankk1	A	C	9: 49,419,364 (GRCm38)		probably null	Het
Astn1	A	G	1: 158,600,502 (GRCm38)	T748A	possibly damaging	Het
Bmp7	C	A	2: 172,939,915 (GRCm38)	R52L	possibly damaging	Het
Ccdc33	G	A	9: 58,031,112 (GRCm38)	P859S	possibly damaging	Het
Ccny	A	G	18: 9,449,644 (GRCm38)	S10P	probably damaging	Het
Cdc6	C	A	11: 98,910,461 (GRCm38)	F179L	probably benign	Het
Cdc7	T	A	5: 106,983,132 (GRCm38)	V491E	probably benign	Het
Cdh23	G	T	10: 60,596,730 (GRCm38)	S138R	possibly damaging	Het
Cenpc1	T	C	5: 86,037,755 (GRCm38)	H299R	probably benign	Het
Ciart	A	T	3: 95,878,701 (GRCm38)	M354K	probably benign	Het
Clasrp	G	T	7: 19,586,715 (GRCm38)		probably benign	Het
Col4a3	G	A	1: 82,696,319 (GRCm38)	G1132E	unknown	Het
Crebbp	G	A	16: 4,084,823 (GRCm38)	T2184I	probably benign	Het
Cyp2r1	A	C	7: 114,550,405 (GRCm38)	M458R	probably damaging	Het
Cyp7a1	C	A	4: 6,275,492 (GRCm38)	R27M	probably null	Het
Ddhd2	A	G	8: 25,752,165 (GRCm38)	F116L	probably damaging	Het
Dnah2	A	G	11: 69,524,240 (GRCm38)	S223P	probably benign	Het
Exph5	A	T	9: 53,372,679 (GRCm38)	R353S	possibly damaging	Het
F11	C	A	8: 45,252,118 (GRCm38)	V129F	probably benign	Het
F830045P16Rik	A	T	2: 129,459,397 (GRCm38)	S454T	possibly damaging	Het
Fam124a	T	C	14: 62,587,207 (GRCm38)	I50T	probably damaging	Het
Fam20c	T	C	5: 138,756,227 (GRCm38)		probably null	Het
Fam234b	A	G	6: 135,226,914 (GRCm38)	T405A	probably benign	Het
Fbh1	C	A	2: 11,762,970 (GRCm38)	V356L	possibly damaging	Het
Flywch1	G	A	17: 23,762,313 (GRCm38)	Q132*	probably null	Het
Foxo6	T	C	4: 120,286,969 (GRCm38)	D95G	probably benign	Het
Ggt5	T	C	10: 75,604,087 (GRCm38)	F174S	probably damaging	Het
Gm7104	G	A	12: 88,285,781 (GRCm38)		noncoding transcript	Het
Gpr155	A	G	2: 73,373,633 (GRCm38)	L279P	probably damaging	Het
H2-T23	A	G	17: 36,032,191 (GRCm38)	L98P	probably damaging	Het
Heatr5a	A	G	12: 51,955,403 (GRCm38)	V250A	probably benign	Het
Heyl	A	T	4: 123,241,363 (GRCm38)	I50F	probably damaging	Het
Hist4h4	G	C	6: 136,804,103 (GRCm38)	R93G	possibly damaging	Het
Ifitm10	A	T	7: 142,356,034 (GRCm38)	S179R	probably damaging	Het
Isg15	A	T	4: 156,199,792 (GRCm38)	I93N	probably benign	Het
Itga10	G	A	3: 96,657,690 (GRCm38)	V985I	probably benign	Het
Itga10	C	T	3: 96,651,738 (GRCm38)		probably benign	Het
Kcnt2	T	C	1: 140,375,154 (GRCm38)	I144T	probably benign	Het
Klk1	A	C	7: 44,229,034 (GRCm38)	K104T	possibly damaging	Het
Lemd3	C	A	10: 120,933,442 (GRCm38)	R654L	probably damaging	Het
Lmod1	A	T	1: 135,364,387 (GRCm38)	M327L	probably benign	Het
Lonrf2	T	C	1: 38,807,050 (GRCm38)	E347G	probably benign	Het
Ltbp1	A	G	17: 75,276,432 (GRCm38)	Y409C	probably damaging	Het
Mecom	A	T	3: 29,980,592 (GRCm38)	Y312N	probably damaging	Het
Mmut	A	G	17: 40,941,451 (GRCm38)	T295A	probably benign	Het
Mrgprb3	C	T	7: 48,643,734 (GRCm38)	C23Y	possibly damaging	Het
Nadk	C	A	4: 155,585,441 (GRCm38)	L194I	probably damaging	Het
Naxd	A	G	8: 11,509,510 (GRCm38)	I182V	probably benign	Het
Nbeal1	T	A	1: 60,319,687 (GRCm38)	I1176K	probably damaging	Het
Nol4l	C	A	2: 153,529,521 (GRCm38)	R81L	possibly damaging	Het
Odad3	T	G	9: 21,991,858 (GRCm38)	T419P	possibly damaging	Het
Or4k47	T	A	2: 111,621,814 (GRCm38)	R87W	probably benign	Het
Or8g36	A	T	9: 39,511,378 (GRCm38)	M114K	probably damaging	Het
Or9s15	G	T	1: 92,596,969 (GRCm38)	R150L	probably benign	Het
Pcdh18	A	G	3: 49,754,940 (GRCm38)	V642A	probably benign	Het
Pdzk1	G	A	3: 96,855,848 (GRCm38)		probably benign	Het
Per3	C	T	4: 151,033,938 (GRCm38)	V233I	probably benign	Het
Pisd	G	A	5: 32,764,796 (GRCm38)	P267S	possibly damaging	Het
Prm1	T	A	16: 10,796,493 (GRCm38)		probably benign	Het
Ptprj	A	G	2: 90,463,095 (GRCm38)	V548A	probably damaging	Het
Ranbp3	G	A	17: 56,673,367 (GRCm38)		probably benign	Het
Raver2	T	A	4: 101,102,812 (GRCm38)	V163D	probably damaging	Het
Rbm14	A	T	19: 4,803,877 (GRCm38)	I159N	possibly damaging	Het
Rfx6	G	A	10: 51,718,126 (GRCm38)	V381I	probably benign	Het
Rhobtb1	T	C	10: 69,272,863 (GRCm38)		probably benign	Het
Rpl28-ps4	T	A	6: 117,213,895 (GRCm38)		noncoding transcript	Het
Rsph10b	A	G	5: 143,967,250 (GRCm38)		probably null	Het
Rspo4	A	G	2: 151,873,093 (GRCm38)	K217E	unknown	Het
Scgb2b27	G	A	7: 34,013,285 (GRCm38)	A44V	possibly damaging	Het
Sec14l2	G	A	11: 4,111,435 (GRCm38)		probably benign	Het
Sec31b	T	C	19: 44,536,156 (GRCm38)	N101D	probably benign	Het
Sema6a	A	T	18: 47,306,429 (GRCm38)	C9*	probably null	Het
Septin5	A	C	16: 18,623,012 (GRCm38)	L331R	probably benign	Het
Slc16a11	C	A	11: 70,215,651 (GRCm38)	Y238*	probably null	Het
Slc25a12	T	C	2: 71,312,548 (GRCm38)	T210A	probably benign	Het
Slc35f1	A	T	10: 53,089,347 (GRCm38)	Y286F	probably damaging	Het
Szt2	A	T	4: 118,376,448 (GRCm38)	L2225*	probably null	Het
Thap12	T	C	7: 98,716,620 (GRCm38)	L665P	probably damaging	Het
Tpsb2	T	A	17: 25,367,724 (GRCm38)	W237R	probably damaging	Het
Tyk2	T	C	9: 21,120,341 (GRCm38)	D451G	probably damaging	Het
Ube2j1	T	A	4: 33,049,696 (GRCm38)	N231K	probably benign	Het
Vmn1r225	A	T	17: 20,502,590 (GRCm38)	T98S	possibly damaging	Het
Vmn1r87	A	T	7: 13,131,821 (GRCm38)	S180T	probably benign	Het
Vmn2r6	A	G	3: 64,537,841 (GRCm38)	V821A	probably damaging	Het
Zfp689	C	A	7: 127,444,826 (GRCm38)	G211C	probably damaging	Het
Zfp827	A	G	8: 79,076,236 (GRCm38)	D479G	probably benign	Het
Zfp995	A	C	17: 21,880,594 (GRCm38)	F220V	probably damaging	Het

Other mutations in Dgkd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01529:Dgkd	APN	1	87,880,411 (GRCm38)	missense	probably damaging	1.00
IGL01531:Dgkd	APN	1	87,880,411 (GRCm38)	missense	probably damaging	1.00
IGL01627:Dgkd	APN	1	87,880,428 (GRCm38)	missense	probably damaging	1.00
IGL01720:Dgkd	APN	1	87,936,765 (GRCm38)	missense	probably damaging	1.00
IGL01915:Dgkd	APN	1	87,926,058 (GRCm38)	missense	possibly damaging	0.86
IGL01941:Dgkd	APN	1	87,924,559 (GRCm38)	missense	probably damaging	0.99
IGL01951:Dgkd	APN	1	87,916,916 (GRCm38)	missense	probably damaging	1.00
IGL02244:Dgkd	APN	1	87,915,141 (GRCm38)	missense	probably benign	0.27
IGL02581:Dgkd	APN	1	87,918,002 (GRCm38)	splice site	probably benign
IGL02852:Dgkd	APN	1	87,935,413 (GRCm38)	missense	probably damaging	1.00
IGL02893:Dgkd	APN	1	87,915,208 (GRCm38)	splice site	probably benign
IGL03367:Dgkd	APN	1	87,940,308 (GRCm38)	critical splice donor site	probably null
R0014:Dgkd	UTSW	1	87,881,881 (GRCm38)	missense	probably damaging	1.00
R0016:Dgkd	UTSW	1	87,917,952 (GRCm38)	missense	probably benign	0.02
R0219:Dgkd	UTSW	1	87,938,274 (GRCm38)	splice site	probably benign
R0496:Dgkd	UTSW	1	87,936,900 (GRCm38)	missense	probably null	0.83
R0559:Dgkd	UTSW	1	87,915,104 (GRCm38)	missense	probably damaging	1.00
R0591:Dgkd	UTSW	1	87,915,104 (GRCm38)	missense	probably damaging	1.00
R1270:Dgkd	UTSW	1	87,934,125 (GRCm38)	missense	probably damaging	0.96
R1599:Dgkd	UTSW	1	87,881,886 (GRCm38)	missense	possibly damaging	0.58
R1658:Dgkd	UTSW	1	87,926,268 (GRCm38)	missense	probably damaging	1.00
R1745:Dgkd	UTSW	1	87,932,044 (GRCm38)	critical splice donor site	probably null
R1959:Dgkd	UTSW	1	87,929,827 (GRCm38)	missense	possibly damaging	0.47
R1960:Dgkd	UTSW	1	87,929,827 (GRCm38)	missense	possibly damaging	0.47
R2148:Dgkd	UTSW	1	87,881,921 (GRCm38)	missense	probably damaging	1.00
R2232:Dgkd	UTSW	1	87,929,742 (GRCm38)	missense	probably benign	0.05
R2266:Dgkd	UTSW	1	87,927,818 (GRCm38)	unclassified	probably benign
R3774:Dgkd	UTSW	1	87,936,300 (GRCm38)	missense	probably damaging	1.00
R4004:Dgkd	UTSW	1	87,935,423 (GRCm38)	missense	possibly damaging	0.56
R4005:Dgkd	UTSW	1	87,935,423 (GRCm38)	missense	possibly damaging	0.56
R4133:Dgkd	UTSW	1	87,941,501 (GRCm38)	critical splice donor site	probably null
R4235:Dgkd	UTSW	1	87,931,982 (GRCm38)	nonsense	probably null
R4644:Dgkd	UTSW	1	87,936,294 (GRCm38)	missense	probably damaging	1.00
R4747:Dgkd	UTSW	1	87,934,167 (GRCm38)	missense	probably damaging	1.00
R4864:Dgkd	UTSW	1	87,916,838 (GRCm38)	missense	possibly damaging	0.94
R5334:Dgkd	UTSW	1	87,938,267 (GRCm38)	critical splice donor site	probably null
R5365:Dgkd	UTSW	1	87,935,416 (GRCm38)	missense	probably damaging	1.00
R5495:Dgkd	UTSW	1	87,926,872 (GRCm38)	missense	probably damaging	1.00
R5514:Dgkd	UTSW	1	87,934,110 (GRCm38)	missense	probably damaging	1.00
R5729:Dgkd	UTSW	1	87,936,332 (GRCm38)	nonsense	probably null
R5766:Dgkd	UTSW	1	87,880,449 (GRCm38)	nonsense	probably null
R6133:Dgkd	UTSW	1	87,938,240 (GRCm38)	missense	possibly damaging	0.93
R6137:Dgkd	UTSW	1	87,936,381 (GRCm38)	missense	possibly damaging	0.48
R6198:Dgkd	UTSW	1	87,924,208 (GRCm38)	missense	probably damaging	1.00
R6297:Dgkd	UTSW	1	87,926,144 (GRCm38)	missense	possibly damaging	0.94
R6577:Dgkd	UTSW	1	87,940,240 (GRCm38)	missense	probably damaging	1.00
R6846:Dgkd	UTSW	1	87,925,691 (GRCm38)	splice site	probably null
R6905:Dgkd	UTSW	1	87,935,375 (GRCm38)	missense	probably damaging	1.00
R7369:Dgkd	UTSW	1	87,921,622 (GRCm38)	missense	probably damaging	1.00
R7763:Dgkd	UTSW	1	87,926,949 (GRCm38)	missense	probably benign
R7921:Dgkd	UTSW	1	87,924,084 (GRCm38)	missense	probably damaging	0.98
R8087:Dgkd	UTSW	1	87,916,847 (GRCm38)	missense	probably damaging	1.00
R8119:Dgkd	UTSW	1	87,917,967 (GRCm38)	missense	possibly damaging	0.78
R8731:Dgkd	UTSW	1	87,916,813 (GRCm38)	missense	possibly damaging	0.81
R8813:Dgkd	UTSW	1	87,915,544 (GRCm38)	missense	probably damaging	0.99
R8849:Dgkd	UTSW	1	87,918,643 (GRCm38)	missense	probably damaging	0.99
R8906:Dgkd	UTSW	1	87,941,435 (GRCm38)	missense	probably damaging	0.97
R9496:Dgkd	UTSW	1	87,929,742 (GRCm38)	missense	probably benign	0.05
R9743:Dgkd	UTSW	1	87,934,128 (GRCm38)	missense
Z1176:Dgkd	UTSW	1	87,927,810 (GRCm38)	missense	probably benign	0.05
Z1177:Dgkd	UTSW	1	87,916,886 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CCCACAGTGGACATGTGCATAC -3'
(R):5'- AAGACCCACGGTGCCATAAG -3'

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

Posted On

2014-08-25