Mutagenetix > Incidental Mutation

Incidental Mutation 'R4864:Dgkd'

374714

Institutional Source

Beutler Lab

Gene Symbol

Dgkd

Ensembl Gene

ENSMUSG00000070738

Gene Name

diacylglycerol kinase, delta

Synonyms

dgkd-2, DGKdelta

MMRRC Submission

042474-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.845) question?

Stock #

R4864 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87781009-87872902 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87844560 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 242 (N242I)

Ref Sequence

ENSEMBL: ENSMUSP00000027517 (fasta)

Gene Model

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

AlphaFold

E9PUQ8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027517
AA Change: N242I

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000027517
Gene: ENSMUSG00000070738
AA Change: N242I

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

0.9069

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

99% (93/94)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	C	T	14: 64,210,658 (GRCm39)	R190H	probably benign	Het
Acp6	T	C	3: 97,066,683 (GRCm39)		probably null	Het
Adora3	T	A	3: 105,815,131 (GRCm39)	Y148N	probably damaging	Het
Ahnak2	G	A	12: 112,740,040 (GRCm39)	S538L	probably damaging	Het
Aox3	T	G	1: 58,215,646 (GRCm39)	V1026G	probably damaging	Het
Ap3d1	TTCTCTCTCTCTCTCTCT	TTCTCTCTCTCTCTCT	10: 80,548,612 (GRCm39)		probably null	Het
Arhgef37	G	A	18: 61,627,996 (GRCm39)	A649V	probably benign	Het
Atp5f1a	G	A	18: 77,869,015 (GRCm39)	R413H	possibly damaging	Het
Bace1	A	T	9: 45,766,109 (GRCm39)	I179F	probably damaging	Het
Brinp1	A	G	4: 68,717,123 (GRCm39)	F242L	probably damaging	Het
Brk1	T	C	6: 113,592,805 (GRCm39)	Y63H	possibly damaging	Het
Ccdc74a	A	G	16: 17,466,736 (GRCm39)	T148A	probably benign	Het
Cenpc1	T	A	5: 86,193,180 (GRCm39)	L236F	probably damaging	Het
Col13a1	C	T	10: 61,698,439 (GRCm39)	E541K	unknown	Het
Copg1	T	A	6: 87,866,678 (GRCm39)	C44S	probably damaging	Het
D130043K22Rik	A	G	13: 25,047,595 (GRCm39)	E380G	probably damaging	Het
Dchs1	T	C	7: 105,404,460 (GRCm39)	D2694G	probably damaging	Het
Dnah2	C	T	11: 69,313,416 (GRCm39)	V4248I	probably damaging	Het
Dpy19l3	T	A	7: 35,411,607 (GRCm39)	K376*	probably null	Het
Eef1d	A	G	15: 75,775,255 (GRCm39)	S135P	possibly damaging	Het
Epc2	T	A	2: 49,427,177 (GRCm39)	S574T	probably benign	Het
Eps15	G	A	4: 109,223,727 (GRCm39)		probably benign	Het
Eps8	T	C	6: 137,455,967 (GRCm39)		probably benign	Het
Exoc5	A	T	14: 49,289,839 (GRCm39)	V13E	probably benign	Het
Fbn1	A	T	2: 125,214,317 (GRCm39)	C765S	possibly damaging	Het
Fbxo5	A	T	10: 5,752,392 (GRCm39)	C74S	probably benign	Het
Fbxw9	T	C	8: 85,792,530 (GRCm39)	S322P	probably damaging	Het
Fmo5	T	A	3: 97,553,195 (GRCm39)	I381N	probably damaging	Het
Fmo6	T	C	1: 162,751,964 (GRCm39)	D175G	probably benign	Het
Gm7361	A	G	5: 26,467,008 (GRCm39)		probably null	Het
Gm9961	G	A	16: 11,720,899 (GRCm39)		probably benign	Het
Golga7b	T	A	19: 42,255,405 (GRCm39)		probably null	Het
Gorab	T	C	1: 163,213,967 (GRCm39)	E321G	probably benign	Het
Gpx1	T	A	9: 108,216,594 (GRCm39)	V28E	probably benign	Het
H2-T15	T	A	17: 36,369,253 (GRCm39)		probably benign	Het
H3c14	T	C	3: 96,154,575 (GRCm39)	I125T	probably damaging	Het
Hk1	T	C	10: 62,178,318 (GRCm39)	S8G	probably benign	Het
Iqsec1	C	T	6: 90,641,038 (GRCm39)	R1026H	probably damaging	Het
Kdm4b	A	T	17: 56,660,091 (GRCm39)	Y86F	probably benign	Het
Kprp	C	T	3: 92,731,829 (GRCm39)	R407Q	unknown	Het
Lamb1	C	T	12: 31,371,005 (GRCm39)	T1400M	probably benign	Het
Lcor	G	T	19: 41,573,803 (GRCm39)	A853S	probably benign	Het
Lrriq3	T	A	3: 154,893,447 (GRCm39)	Y383N	possibly damaging	Het
Map3k21	T	C	8: 126,654,294 (GRCm39)	I371T	probably benign	Het
Mllt1	A	T	17: 57,212,819 (GRCm39)	F105I	probably damaging	Het
Nfatc2	A	G	2: 168,378,312 (GRCm39)	M451T	probably damaging	Het
Nfkbiz	A	C	16: 55,638,787 (GRCm39)	N224K	probably damaging	Het
Nlrp4d	A	G	7: 10,115,088 (GRCm39)	V531A	noncoding transcript	Het
Noc3l	A	G	19: 38,778,081 (GRCm39)	Y778H	probably benign	Het
Nup98	C	A	7: 101,802,403 (GRCm39)	A734S	possibly damaging	Het
Or2ag18	T	C	7: 106,405,171 (GRCm39)	Y166C	probably damaging	Het
Or4k2	T	A	14: 50,424,039 (GRCm39)	I212F	probably damaging	Het
Or9g20	A	G	2: 85,630,033 (GRCm39)	Y194H	probably damaging	Het
Or9r7	T	A	10: 129,962,756 (GRCm39)	R57*	probably null	Het
Pate4	A	T	9: 35,519,535 (GRCm39)	C52S	probably damaging	Het
Pecr	C	A	1: 72,316,490 (GRCm39)	A72S	probably benign	Het
Pomt1	A	G	2: 32,142,004 (GRCm39)	N578S	probably benign	Het
Ppm1a	T	C	12: 72,830,738 (GRCm39)	S88P	probably benign	Het
Ppm1l	T	A	3: 69,449,844 (GRCm39)		probably benign	Het
Prdm13	A	G	4: 21,685,543 (GRCm39)	S86P	unknown	Het
Prph2	T	C	17: 47,221,848 (GRCm39)	S76P	probably benign	Het
Sarnp	G	A	10: 128,669,212 (GRCm39)	R23H	probably damaging	Het
Septin1	T	C	7: 126,816,064 (GRCm39)		probably benign	Het
Serpini1	T	C	3: 75,520,481 (GRCm39)	I26T	probably benign	Het
Setdb2	A	G	14: 59,646,715 (GRCm39)	I616T	probably benign	Het
Slc2a10	T	C	2: 165,356,541 (GRCm39)	F67S	probably benign	Het
Slc38a6	T	A	12: 73,390,424 (GRCm39)		probably null	Het
Smg6	T	C	11: 74,820,988 (GRCm39)	S420P	possibly damaging	Het
Srp72	T	A	5: 77,132,009 (GRCm39)	H229Q	probably benign	Het
Ston2	A	G	12: 91,615,448 (GRCm39)	V320A	possibly damaging	Het
Stx3	A	T	19: 11,754,515 (GRCm39)	I269N	possibly damaging	Het
Tdg-ps	A	G	15: 82,400,843 (GRCm39)		noncoding transcript	Het
Tecpr1	T	A	5: 144,150,935 (GRCm39)	N291I	probably benign	Het
Tmem177	A	G	1: 119,838,553 (GRCm39)	V42A	probably benign	Het
Trim26	T	A	17: 37,168,886 (GRCm39)		probably benign	Het
Ttc17	A	G	2: 94,196,980 (GRCm39)	S456P	probably benign	Het
Tubgcp6	T	C	15: 88,988,021 (GRCm39)	Y984C	probably benign	Het
Unc5cl	A	G	17: 48,766,872 (GRCm39)	E82G	possibly damaging	Het
Uncx	T	C	5: 139,529,875 (GRCm39)	S43P	probably damaging	Het
Vmn1r1	A	G	1: 181,985,332 (GRCm39)	V111A	probably benign	Het
Vmn1r168	A	G	7: 23,240,907 (GRCm39)	I255V	probably damaging	Het
Vwce	A	G	19: 10,628,000 (GRCm39)	T487A	probably benign	Het
Xaf1	A	G	11: 72,197,682 (GRCm39)		probably benign	Het
Zfp27	G	T	7: 29,594,261 (GRCm39)	P568Q	probably damaging	Het
Zfp382	A	T	7: 29,832,885 (GRCm39)	I179F	possibly damaging	Het

Other mutations in Dgkd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01529:Dgkd	APN	1	87,808,133 (GRCm39)	missense	probably damaging	1.00
IGL01531:Dgkd	APN	1	87,808,133 (GRCm39)	missense	probably damaging	1.00
IGL01627:Dgkd	APN	1	87,808,150 (GRCm39)	missense	probably damaging	1.00
IGL01720:Dgkd	APN	1	87,864,487 (GRCm39)	missense	probably damaging	1.00
IGL01915:Dgkd	APN	1	87,853,780 (GRCm39)	missense	possibly damaging	0.86
IGL01941:Dgkd	APN	1	87,852,281 (GRCm39)	missense	probably damaging	0.99
IGL01951:Dgkd	APN	1	87,844,638 (GRCm39)	missense	probably damaging	1.00
IGL02244:Dgkd	APN	1	87,842,863 (GRCm39)	missense	probably benign	0.27
IGL02581:Dgkd	APN	1	87,845,724 (GRCm39)	splice site	probably benign
IGL02852:Dgkd	APN	1	87,863,135 (GRCm39)	missense	probably damaging	1.00
IGL02893:Dgkd	APN	1	87,842,930 (GRCm39)	splice site	probably benign
IGL03367:Dgkd	APN	1	87,868,030 (GRCm39)	critical splice donor site	probably null
R0014:Dgkd	UTSW	1	87,809,603 (GRCm39)	missense	probably damaging	1.00
R0016:Dgkd	UTSW	1	87,845,674 (GRCm39)	missense	probably benign	0.02
R0219:Dgkd	UTSW	1	87,865,996 (GRCm39)	splice site	probably benign
R0496:Dgkd	UTSW	1	87,864,622 (GRCm39)	missense	probably null	0.83
R0559:Dgkd	UTSW	1	87,842,826 (GRCm39)	missense	probably damaging	1.00
R0591:Dgkd	UTSW	1	87,842,826 (GRCm39)	missense	probably damaging	1.00
R1270:Dgkd	UTSW	1	87,861,847 (GRCm39)	missense	probably damaging	0.96
R1599:Dgkd	UTSW	1	87,809,608 (GRCm39)	missense	possibly damaging	0.58
R1658:Dgkd	UTSW	1	87,853,990 (GRCm39)	missense	probably damaging	1.00
R1745:Dgkd	UTSW	1	87,859,766 (GRCm39)	critical splice donor site	probably null
R1959:Dgkd	UTSW	1	87,857,549 (GRCm39)	missense	possibly damaging	0.47
R1960:Dgkd	UTSW	1	87,857,549 (GRCm39)	missense	possibly damaging	0.47
R2044:Dgkd	UTSW	1	87,855,413 (GRCm39)	missense	probably benign
R2148:Dgkd	UTSW	1	87,809,643 (GRCm39)	missense	probably damaging	1.00
R2232:Dgkd	UTSW	1	87,857,464 (GRCm39)	missense	probably benign	0.05
R2266:Dgkd	UTSW	1	87,855,540 (GRCm39)	unclassified	probably benign
R3774:Dgkd	UTSW	1	87,864,022 (GRCm39)	missense	probably damaging	1.00
R4004:Dgkd	UTSW	1	87,863,145 (GRCm39)	missense	possibly damaging	0.56
R4005:Dgkd	UTSW	1	87,863,145 (GRCm39)	missense	possibly damaging	0.56
R4133:Dgkd	UTSW	1	87,869,223 (GRCm39)	critical splice donor site	probably null
R4235:Dgkd	UTSW	1	87,859,704 (GRCm39)	nonsense	probably null
R4644:Dgkd	UTSW	1	87,864,016 (GRCm39)	missense	probably damaging	1.00
R4747:Dgkd	UTSW	1	87,861,889 (GRCm39)	missense	probably damaging	1.00
R5334:Dgkd	UTSW	1	87,865,989 (GRCm39)	critical splice donor site	probably null
R5365:Dgkd	UTSW	1	87,863,138 (GRCm39)	missense	probably damaging	1.00
R5495:Dgkd	UTSW	1	87,854,594 (GRCm39)	missense	probably damaging	1.00
R5514:Dgkd	UTSW	1	87,861,832 (GRCm39)	missense	probably damaging	1.00
R5729:Dgkd	UTSW	1	87,864,054 (GRCm39)	nonsense	probably null
R5766:Dgkd	UTSW	1	87,808,171 (GRCm39)	nonsense	probably null
R6133:Dgkd	UTSW	1	87,865,962 (GRCm39)	missense	possibly damaging	0.93
R6137:Dgkd	UTSW	1	87,864,103 (GRCm39)	missense	possibly damaging	0.48
R6198:Dgkd	UTSW	1	87,851,930 (GRCm39)	missense	probably damaging	1.00
R6297:Dgkd	UTSW	1	87,853,866 (GRCm39)	missense	possibly damaging	0.94
R6577:Dgkd	UTSW	1	87,867,962 (GRCm39)	missense	probably damaging	1.00
R6846:Dgkd	UTSW	1	87,853,413 (GRCm39)	splice site	probably null
R6905:Dgkd	UTSW	1	87,863,097 (GRCm39)	missense	probably damaging	1.00
R7369:Dgkd	UTSW	1	87,849,344 (GRCm39)	missense	probably damaging	1.00
R7763:Dgkd	UTSW	1	87,854,671 (GRCm39)	missense	probably benign
R7921:Dgkd	UTSW	1	87,851,806 (GRCm39)	missense	probably damaging	0.98
R8087:Dgkd	UTSW	1	87,844,569 (GRCm39)	missense	probably damaging	1.00
R8119:Dgkd	UTSW	1	87,845,689 (GRCm39)	missense	possibly damaging	0.78
R8731:Dgkd	UTSW	1	87,844,535 (GRCm39)	missense	possibly damaging	0.81
R8813:Dgkd	UTSW	1	87,843,266 (GRCm39)	missense	probably damaging	0.99
R8849:Dgkd	UTSW	1	87,846,365 (GRCm39)	missense	probably damaging	0.99
R8906:Dgkd	UTSW	1	87,869,157 (GRCm39)	missense	probably damaging	0.97
R9496:Dgkd	UTSW	1	87,857,464 (GRCm39)	missense	probably benign	0.05
R9743:Dgkd	UTSW	1	87,861,850 (GRCm39)	missense
Z1176:Dgkd	UTSW	1	87,855,532 (GRCm39)	missense	probably benign	0.05
Z1177:Dgkd	UTSW	1	87,844,608 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGTCTCCTTCCCAGTAGGTG -3'
(R):5'- CTCTGGGGTAAACTCAGGAAGG -3'

Sequencing Primer
(F):5'- GTACCTCATAGGCCCTGCATG -3'
(R):5'- GAGAAGAACAGAGCCCCAAGC -3'

Posted On

2016-03-17