Mutagenetix > Incidental Mutation

Incidental Mutation 'R0636:Dgkg'

56718

Institutional Source

Beutler Lab

Gene Symbol

Dgkg

Ensembl Gene

ENSMUSG00000022861

Gene Name

diacylglycerol kinase, gamma

Synonyms

2900055E17Rik, E430001K23Rik, Dagk3

MMRRC Submission

038825-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R0636 (G1)

Quality Score

221

Status

Validated

Chromosome

Chromosomal Location

22287211-22475971 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 22398479 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114441 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023578] [ENSMUST00000089925] [ENSMUST00000137311]

AlphaFold

Q91WG7

Predicted Effect

probably benign
Transcript: ENSMUST00000023578

SMART Domains

Protein: ENSMUSP00000023578
Gene: ENSMUSG00000022861

Domain	Start	End	E-Value	Type
Pfam:DAG_kinase_N	2	172	9.3e-66	PFAM
EFh	176	204	8.13e-2	SMART
EFh	221	249	1.07e-1	SMART
C1	269	318	1.23e-10	SMART
DAGKc	392	516	5.29e-65	SMART
DAGKa	536	710	1.25e-116	SMART
low complexity region	735	748	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000089925

SMART Domains

Protein: ENSMUSP00000087371
Gene: ENSMUSG00000022861

Domain	Start	End	E-Value	Type
Pfam:DAG_kinase_N	5	172	3.9e-54	PFAM
EFh	176	204	8.13e-2	SMART
EFh	221	249	1.07e-1	SMART
C1	269	318	1.23e-10	SMART
C1	334	380	3.35e-3	SMART
DAGKc	431	555	5.29e-65	SMART
DAGKa	575	749	1.25e-116	SMART
low complexity region	774	787	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000137311

SMART Domains

Protein: ENSMUSP00000114441
Gene: ENSMUSG00000022861

Domain	Start	End	E-Value	Type
Pfam:DAG_kinase_N	2	172	3.8e-67	PFAM
EFh	176	204	8.13e-2	SMART
EFh	221	249	1.07e-1	SMART
C1	269	318	1.23e-10	SMART

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.7%

Validation Efficiency

96% (74/77)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that is a member of the type I subfamily of diacylglycerol kinases, which are involved in lipid metabolism. These enzymes generate phosphatidic acid by catalyzing the phosphorylation of diacylglycerol, a fundamental lipid second messenger that activates numerous proteins, including protein kinase C isoforms, Ras guanyl nucleotide-releasing proteins and some transient receptor potential channels. Diacylglycerol kinase gamma has been implicated in cell cycle regulation and in the negative regulation of macrophage differentiation in leukemia cells. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	T	C	4: 103,088,414 (GRCm39)	Y264C	probably damaging	Het
8030423J24Rik	T	C	13: 71,032,344 (GRCm39)	F139L	unknown	Het
Aco1	A	G	4: 40,175,697 (GRCm39)	E146G	probably damaging	Het
Adam2	T	G	14: 66,272,265 (GRCm39)	D639A	probably benign	Het
Adh4	G	T	3: 138,133,835 (GRCm39)	R315L	probably damaging	Het
Adprhl1	T	C	8: 13,298,702 (GRCm39)	D76G	probably damaging	Het
Akip1	T	C	7: 109,306,726 (GRCm39)		probably benign	Het
Ap3d1	T	A	10: 80,555,216 (GRCm39)	K370*	probably null	Het
Arfgef1	C	A	1: 10,270,076 (GRCm39)	V358L	probably benign	Het
Arpp21	A	T	9: 112,012,566 (GRCm39)	D85E	probably benign	Het
Azi2	A	T	9: 117,891,125 (GRCm39)	L383F	probably benign	Het
Bpgm	T	A	6: 34,481,222 (GRCm39)	D206E	probably benign	Het
Bsn	T	C	9: 107,985,033 (GRCm39)	D3007G	unknown	Het
Ccdc142	T	G	6: 83,084,179 (GRCm39)		probably benign	Het
Cep135	T	C	5: 76,763,504 (GRCm39)	V498A	probably benign	Het
Cntn6	A	T	6: 104,840,109 (GRCm39)	Q1003L	probably benign	Het
Cntnap2	T	A	6: 47,273,642 (GRCm39)		probably benign	Het
Csf2rb2	G	A	15: 78,176,160 (GRCm39)	Q139*	probably null	Het
Cyp3a16	A	G	5: 145,399,895 (GRCm39)	V101A	probably benign	Het
D630045J12Rik	T	C	6: 38,173,713 (GRCm39)	T152A	probably benign	Het
Def8	G	A	8: 124,181,096 (GRCm39)	W176*	probably null	Het
Ear10	T	C	14: 44,160,451 (GRCm39)		probably null	Het
Fbxw2	A	T	2: 34,712,859 (GRCm39)	Y67*	probably null	Het
Flii	T	A	11: 60,606,378 (GRCm39)	Y1104F	probably damaging	Het
Gm973	G	A	1: 59,590,303 (GRCm39)	R270K	probably benign	Het
Gnl3	T	A	14: 30,739,110 (GRCm39)	K75N	probably damaging	Het
Gpc6	A	T	14: 117,861,905 (GRCm39)	M274L	probably benign	Het
Ifi47	A	G	11: 48,987,478 (GRCm39)	E415G	possibly damaging	Het
Ift57	A	G	16: 49,532,259 (GRCm39)	T130A	probably benign	Het
Itpr2	T	A	6: 146,072,910 (GRCm39)	D2373V	probably damaging	Het
Kat6a	T	C	8: 23,429,339 (GRCm39)	S1565P	possibly damaging	Het
Klhl6	A	T	16: 19,766,823 (GRCm39)		probably benign	Het
Klra2	T	C	6: 131,197,067 (GRCm39)		probably benign	Het
Lama5	A	G	2: 179,831,124 (GRCm39)		probably null	Het
Mapk4	A	G	18: 74,063,525 (GRCm39)	S566P	probably benign	Het
Mindy4	C	A	6: 55,253,570 (GRCm39)	R480S	possibly damaging	Het
Mterf3	T	C	13: 67,070,817 (GRCm39)		probably benign	Het
Mtmr2	A	G	9: 13,713,209 (GRCm39)		probably null	Het
Myef2l	T	C	3: 10,153,843 (GRCm39)	L204P	possibly damaging	Het
Naip5	T	C	13: 100,356,196 (GRCm39)	T1140A	probably benign	Het
Nf1	A	G	11: 79,426,529 (GRCm39)	T1648A	probably damaging	Het
Nlk	A	T	11: 78,586,670 (GRCm39)	D141E	probably benign	Het
Noxa1	C	A	2: 24,976,106 (GRCm39)		probably benign	Het
Or4g16	A	G	2: 111,136,757 (GRCm39)	N69S	probably benign	Het
Or5b121	A	T	19: 13,507,613 (GRCm39)	Y236F	possibly damaging	Het
Or5p55	T	C	7: 107,566,679 (GRCm39)	V25A	probably benign	Het
Otog	G	A	7: 45,913,652 (GRCm39)		probably null	Het
Pebp4	T	C	14: 70,285,796 (GRCm39)		probably benign	Het
Phgdh	G	T	3: 98,240,607 (GRCm39)	N100K	possibly damaging	Het
Pnisr	T	A	4: 21,873,800 (GRCm39)		probably benign	Het
Ptpn6	T	C	6: 124,702,242 (GRCm39)	H346R	probably benign	Het
Rsf1	T	C	7: 97,311,226 (GRCm39)	V652A	possibly damaging	Het
Rubcn	G	A	16: 32,649,056 (GRCm39)	H624Y	probably damaging	Het
Semp2l2a	T	C	8: 13,887,870 (GRCm39)	R74G	probably benign	Het
Setdb2	T	C	14: 59,644,153 (GRCm39)	N656D	probably benign	Het
Slc22a23	T	C	13: 34,483,076 (GRCm39)	T268A	probably benign	Het
Slc3a1	A	T	17: 85,340,222 (GRCm39)	T215S	possibly damaging	Het
Srsf2	A	G	11: 116,742,904 (GRCm39)	S206P	probably benign	Het
Susd2	T	A	10: 75,475,184 (GRCm39)	D542V	probably damaging	Het
Svep1	G	A	4: 58,073,121 (GRCm39)	Q2063*	probably null	Het
Syne2	G	A	12: 75,977,757 (GRCm39)	V1401M	possibly damaging	Het
Tenm2	A	G	11: 36,834,803 (GRCm39)	L64P	probably damaging	Het
Tigd2	A	G	6: 59,188,272 (GRCm39)	T380A	possibly damaging	Het
Trmt12	G	T	15: 58,745,834 (GRCm39)	V411F	probably damaging	Het
Ubr4	T	C	4: 139,163,613 (GRCm39)		probably null	Het
Ush2a	G	A	1: 188,554,935 (GRCm39)	C3571Y	probably benign	Het
Usp8	A	G	2: 126,562,030 (GRCm39)	M75V	possibly damaging	Het
Vcan	C	T	13: 89,852,825 (GRCm39)	D712N	probably damaging	Het
Vcan	C	A	13: 89,860,386 (GRCm39)	R327L	probably damaging	Het
Vps8	A	G	16: 21,253,683 (GRCm39)	E8G	probably benign	Het
Washc5	T	C	15: 59,231,258 (GRCm39)	D335G	probably benign	Het
Zbtb39	A	G	10: 127,578,704 (GRCm39)	N426S	probably benign	Het
Zfp184	T	A	13: 22,133,919 (GRCm39)	D55E	probably damaging	Het
Zfp882	T	C	8: 72,668,181 (GRCm39)	V336A	probably benign	Het

Other mutations in Dgkg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00592:Dgkg	APN	16	22,298,112 (GRCm39)	splice site	probably benign
IGL01347:Dgkg	APN	16	22,419,340 (GRCm39)	missense	probably benign	0.13
IGL02313:Dgkg	APN	16	22,388,980 (GRCm39)	splice site	probably benign
IGL02498:Dgkg	APN	16	22,367,441 (GRCm39)	missense	probably damaging	1.00
IGL02954:Dgkg	APN	16	22,441,003 (GRCm39)	missense	probably benign	0.00
IGL03103:Dgkg	APN	16	22,399,275 (GRCm39)	missense	probably damaging	1.00
R0014:Dgkg	UTSW	16	22,384,114 (GRCm39)	splice site	probably null
R0666:Dgkg	UTSW	16	22,381,480 (GRCm39)	missense	probably damaging	1.00
R1056:Dgkg	UTSW	16	22,419,291 (GRCm39)	missense	probably damaging	1.00
R1495:Dgkg	UTSW	16	22,319,129 (GRCm39)	missense	probably damaging	1.00
R1603:Dgkg	UTSW	16	22,388,909 (GRCm39)	splice site	probably benign
R1993:Dgkg	UTSW	16	22,419,344 (GRCm39)	missense	probably damaging	1.00
R2073:Dgkg	UTSW	16	22,384,067 (GRCm39)	missense	probably damaging	0.96
R2192:Dgkg	UTSW	16	22,407,049 (GRCm39)	missense	probably damaging	0.98
R2251:Dgkg	UTSW	16	22,441,010 (GRCm39)	start codon destroyed	probably null	0.98
R2252:Dgkg	UTSW	16	22,441,010 (GRCm39)	start codon destroyed	probably null	0.98
R3104:Dgkg	UTSW	16	22,394,091 (GRCm39)	missense	probably damaging	1.00
R3105:Dgkg	UTSW	16	22,394,091 (GRCm39)	missense	probably damaging	1.00
R3106:Dgkg	UTSW	16	22,394,091 (GRCm39)	missense	probably damaging	1.00
R4804:Dgkg	UTSW	16	22,393,943 (GRCm39)	intron	probably benign
R5272:Dgkg	UTSW	16	22,407,044 (GRCm39)	splice site	probably null
R5364:Dgkg	UTSW	16	22,419,211 (GRCm39)	missense	probably benign	0.03
R5417:Dgkg	UTSW	16	22,407,081 (GRCm39)	missense	possibly damaging	0.50
R5677:Dgkg	UTSW	16	22,388,921 (GRCm39)	missense	probably benign	0.00
R5839:Dgkg	UTSW	16	22,385,244 (GRCm39)	missense	possibly damaging	0.91
R5931:Dgkg	UTSW	16	22,376,788 (GRCm39)	nonsense	probably null
R6313:Dgkg	UTSW	16	22,338,311 (GRCm39)	missense	probably damaging	0.96
R7017:Dgkg	UTSW	16	22,391,463 (GRCm39)	missense	probably benign	0.31
R7135:Dgkg	UTSW	16	22,319,132 (GRCm39)	missense	probably damaging	1.00
R7326:Dgkg	UTSW	16	22,367,440 (GRCm39)	missense	probably damaging	1.00
R7476:Dgkg	UTSW	16	22,441,054 (GRCm39)	start gained	probably benign
R7812:Dgkg	UTSW	16	22,385,165 (GRCm39)	missense	probably damaging	1.00
R7971:Dgkg	UTSW	16	22,388,966 (GRCm39)	nonsense	probably null
R8064:Dgkg	UTSW	16	22,399,344 (GRCm39)	frame shift	probably null
R8122:Dgkg	UTSW	16	22,385,295 (GRCm39)	splice site	probably null
R8825:Dgkg	UTSW	16	22,381,519 (GRCm39)	missense	probably benign	0.13
R9049:Dgkg	UTSW	16	22,419,338 (GRCm39)	missense	probably benign	0.01
R9308:Dgkg	UTSW	16	22,429,528 (GRCm39)	critical splice donor site	probably null
R9352:Dgkg	UTSW	16	22,398,581 (GRCm39)	missense	probably damaging	0.99
R9433:Dgkg	UTSW	16	22,384,065 (GRCm39)	missense	probably damaging	1.00
R9545:Dgkg	UTSW	16	22,385,168 (GRCm39)	missense	possibly damaging	0.48
R9606:Dgkg	UTSW	16	22,441,011 (GRCm39)	start codon destroyed	probably null	0.51
R9623:Dgkg	UTSW	16	22,385,194 (GRCm39)	missense
R9634:Dgkg	UTSW	16	22,338,387 (GRCm39)	critical splice acceptor site	probably null
R9765:Dgkg	UTSW	16	22,298,157 (GRCm39)	missense	possibly damaging	0.70
Z1088:Dgkg	UTSW	16	22,391,436 (GRCm39)	missense	probably benign	0.31
Z1088:Dgkg	UTSW	16	22,288,078 (GRCm39)	missense	probably damaging	0.96
Z1176:Dgkg	UTSW	16	22,407,148 (GRCm39)	missense	probably benign	0.00
Z1177:Dgkg	UTSW	16	22,376,834 (GRCm39)	missense	probably benign	0.22

Predicted Primers

PCR Primer
(F):5'- TCTGTTGCCTCACAGTGAGCAC -3'
(R):5'- GCAGAGTCATCCAGAAACAGATGCC -3'

Sequencing Primer
(F):5'- AAATTTCCCTTCACAACAGAGCAG -3'
(R):5'- AGATGCCAACGGACCCTTTG -3'

Posted On

2013-07-11