Mutagenetix > Incidental Mutation

Incidental Mutation 'R1960:Dgkd'

317996

Institutional Source

Beutler Lab

Gene Symbol

Dgkd

Ensembl Gene

ENSMUSG00000070738

Gene Name

diacylglycerol kinase, delta

Synonyms

dgkd-2, DGKdelta

MMRRC Submission

039974-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.845) question?

Stock #

R1960 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87781009-87872902 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 87857549 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 754 (P754T)

Ref Sequence

ENSEMBL: ENSMUSP00000027517 (fasta)

Gene Model

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

AlphaFold

E9PUQ8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027517
AA Change: P754T

PolyPhen 2 Score 0.467 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000027517
Gene: ENSMUSG00000070738
AA Change: P754T

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: 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

Meta Mutation Damage Score

0.0739

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (95/95)

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
2410004B18Rik	C	T	3: 145,643,976 (GRCm39)	P55S	probably damaging	Het
Adgre4	T	C	17: 56,098,497 (GRCm39)	S136P	probably benign	Het
Aoc1l1	C	T	6: 48,952,687 (GRCm39)	T204I	probably damaging	Het
Arap1	C	A	7: 101,022,222 (GRCm39)	A8E	probably damaging	Het
Arid1a	A	T	4: 133,480,401 (GRCm39)	H174Q	possibly damaging	Het
Btbd2	A	G	10: 80,480,539 (GRCm39)	I358T	probably benign	Het
Camkk2	G	A	5: 122,875,575 (GRCm39)	R492*	probably null	Het
Capn3	T	C	2: 120,294,421 (GRCm39)	V23A	probably benign	Het
Carm1	T	G	9: 21,491,606 (GRCm39)	V225G	probably benign	Het
Ccdc113	T	A	8: 96,267,459 (GRCm39)	N141K	probably benign	Het
Ccdc60	C	A	5: 116,284,243 (GRCm39)	M298I	probably benign	Het
Celsr3	C	T	9: 108,723,016 (GRCm39)	P2801L	probably benign	Het
Clec4n	T	A	6: 123,207,505 (GRCm39)	V23E	probably damaging	Het
Cmtr2	T	G	8: 110,948,382 (GRCm39)	L231V	probably damaging	Het
Csrnp3	T	G	2: 65,853,363 (GRCm39)	V585G	probably null	Het
Ctnnd2	T	C	15: 30,647,257 (GRCm39)	S318P	probably damaging	Het
Cubn	A	T	2: 13,344,828 (GRCm39)		probably null	Het
Dnah7a	A	G	1: 53,724,142 (GRCm39)	S108P	probably benign	Het
Dnajc24	A	G	2: 105,832,268 (GRCm39)		probably benign	Het
Dner	A	T	1: 84,423,177 (GRCm39)	S475R	probably damaging	Het
Dtnb	T	C	12: 3,831,190 (GRCm39)	L630P	probably benign	Het
Dysf	T	C	6: 84,050,885 (GRCm39)	F411L	probably benign	Het
Fbh1	G	A	2: 11,762,339 (GRCm39)	A566V	probably damaging	Het
Fbxw19	G	T	9: 109,315,004 (GRCm39)	T186K	probably benign	Het
Flacc1	A	T	1: 58,698,437 (GRCm39)	V327D	possibly damaging	Het
Gm4825	A	G	15: 85,395,245 (GRCm39)		noncoding transcript	Het
Grhl2	T	A	15: 37,336,558 (GRCm39)	V54D	probably damaging	Het
Hmcn1	T	C	1: 150,551,742 (GRCm39)	I2621V	probably benign	Het
Hmcn1	T	A	1: 150,553,127 (GRCm39)	E2521V	possibly damaging	Het
Kcng1	A	G	2: 168,104,904 (GRCm39)	V314A	probably benign	Het
Kif13a	G	A	13: 47,018,314 (GRCm39)		probably benign	Het
Kif21a	G	A	15: 90,855,051 (GRCm39)	A703V	probably damaging	Het
Kifc1	A	G	17: 34,103,561 (GRCm39)		probably null	Het
Klk13	T	A	7: 43,370,431 (GRCm39)	N31K	possibly damaging	Het
Klri1	T	A	6: 129,674,347 (GRCm39)	H221L	probably benign	Het
Ltbp4	G	A	7: 27,028,443 (GRCm39)	P273L	unknown	Het
Med16	T	C	10: 79,742,929 (GRCm39)	H14R	possibly damaging	Het
Mpeg1	G	A	19: 12,440,275 (GRCm39)	V578M	probably damaging	Het
Mrgpra2a	T	A	7: 47,076,983 (GRCm39)	I92F	probably benign	Het
Muc5b	T	C	7: 141,416,374 (GRCm39)	C3107R	possibly damaging	Het
Myo5a	T	A	9: 75,055,139 (GRCm39)	F441I	probably damaging	Het
Ndst4	T	A	3: 125,232,331 (GRCm39)	L300*	probably null	Het
Nlgn2	G	T	11: 69,718,136 (GRCm39)	D356E	probably damaging	Het
Nlrp2	T	C	7: 5,330,737 (GRCm39)	E553G	probably damaging	Het
Oas1f	G	A	5: 120,994,502 (GRCm39)	C341Y	possibly damaging	Het
Olfm5	A	T	7: 103,809,619 (GRCm39)	C111S	possibly damaging	Het
Oplah	G	A	15: 76,181,664 (GRCm39)	T1119I	probably damaging	Het
Or2ag15	T	C	7: 106,340,601 (GRCm39)	E180G	probably damaging	Het
Or5d46	T	C	2: 88,170,545 (GRCm39)	L212P	probably damaging	Het
Or6c74	C	T	10: 129,870,187 (GRCm39)	Q231*	probably null	Het
Or6f2	A	T	7: 139,756,596 (GRCm39)	I188L	probably benign	Het
Or8b12c	A	G	9: 37,715,242 (GRCm39)	I12V	probably benign	Het
Or8g51	T	A	9: 38,609,500 (GRCm39)	H58L	probably benign	Het
Pde10a	T	C	17: 9,161,750 (GRCm39)	I477T	possibly damaging	Het
Pde4b	A	G	4: 102,454,657 (GRCm39)	E108G	probably damaging	Het
Pdgfrb	A	T	18: 61,198,855 (GRCm39)	T338S	probably benign	Het
Pgghg	A	G	7: 140,523,260 (GRCm39)	M180V	probably benign	Het
Phactr4	G	A	4: 132,104,559 (GRCm39)	T256I	probably benign	Het
Pot1b	A	T	17: 55,969,531 (GRCm39)	Y546N	probably damaging	Het
Rangap1	T	C	15: 81,590,704 (GRCm39)	T463A	probably benign	Het
Rap1gds1	T	C	3: 138,756,317 (GRCm39)	I13V	probably null	Het
Rbak	A	T	5: 143,160,437 (GRCm39)	Y205*	probably null	Het
Reg3b	A	T	6: 78,348,797 (GRCm39)	K31M	probably damaging	Het
Rfpl4	A	T	7: 5,118,533 (GRCm39)	Y12*	probably null	Het
Rnase6	A	G	14: 51,367,889 (GRCm39)	N94D	possibly damaging	Het
Rtn4	T	C	11: 29,686,464 (GRCm39)	L273P	probably damaging	Het
Ryr3	A	C	2: 112,624,812 (GRCm39)	F2203V	probably damaging	Het
Sae1	A	T	7: 16,102,490 (GRCm39)	D161E	possibly damaging	Het
Sema5a	T	C	15: 32,562,877 (GRCm39)	F296S	possibly damaging	Het
Sh3rf1	C	A	8: 61,837,897 (GRCm39)	P814Q	probably damaging	Het
Slc22a29	C	A	19: 8,146,557 (GRCm39)	R415M	probably benign	Het
Slc25a25	C	T	2: 32,310,663 (GRCm39)		probably null	Het
Slco4c1	T	A	1: 96,795,654 (GRCm39)	M135L	probably benign	Het
Slfn1	A	G	11: 83,012,579 (GRCm39)	I232V	possibly damaging	Het
Slitrk1	T	A	14: 109,149,622 (GRCm39)	N363I	probably damaging	Het
Srr	A	G	11: 74,799,542 (GRCm39)	V311A	probably damaging	Het
Tasor	T	C	14: 27,160,621 (GRCm39)	S128P	probably damaging	Het
Tasor	C	T	14: 27,201,746 (GRCm39)	H1419Y	possibly damaging	Het
Tenm1	T	C	X: 41,916,078 (GRCm39)	D402G	probably benign	Het
Topors	T	C	4: 40,261,044 (GRCm39)	R747G	unknown	Het
Trank1	A	T	9: 111,220,696 (GRCm39)	I2478F	probably damaging	Het
Trim69	A	G	2: 121,998,165 (GRCm39)	N46D	probably benign	Het
Trpm1	T	A	7: 63,879,978 (GRCm39)	L661Q	probably damaging	Het
Ttbk1	A	C	17: 46,791,150 (GRCm39)	F45V	probably damaging	Het
Ttn	T	C	2: 76,644,649 (GRCm39)	K4708R	probably damaging	Het
Unkl	A	G	17: 25,428,619 (GRCm39)		probably benign	Het
Uros	A	T	7: 133,288,735 (GRCm39)	N257K	probably benign	Het
Usp25	A	G	16: 76,873,259 (GRCm39)	Y439C	probably damaging	Het
Vgf	A	G	5: 137,061,029 (GRCm39)		probably benign	Het
Vmn2r8	A	T	5: 108,947,152 (GRCm39)	D533E	probably damaging	Het
Vps13a	A	T	19: 16,702,995 (GRCm39)	Y653N	probably damaging	Het
Zfp358	T	C	8: 3,545,742 (GRCm39)	V135A	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
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
R4864:Dgkd	UTSW	1	87,844,560 (GRCm39)	missense	possibly damaging	0.94
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'- TGTAGGATATGTGGCACCAACC -3'
(R):5'- GTCACTACTGATCTGGCCTG -3'

Sequencing Primer
(F):5'- TGTGGCACCAACCTTAGAGATCTG -3'
(R):5'- CTGTTTCAGAGCCTGGACAG -3'

Posted On

2015-05-19