Mutagenetix > Incidental Mutations

Incidental Mutation 'R0636:Dgkg'

56718

Institutional Source

Beutler Lab

Gene Symbol

Dgkg

Ensembl Gene

ENSMUSG00000022861

Gene Name

diacylglycerol kinase, gamma

Synonyms

E430001K23Rik, 2900055E17Rik, Dagk3

MMRRC Submission

038825-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R0636 (G1)

Quality Score

221

Status

Validated

Chromosome

Chromosomal Location

22468461-22657221 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 22579729 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114441 (fasta)

Gene Model

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

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: 103,231,217	Y264C	probably damaging	Het
8030423J24Rik	T	C	13: 70,884,225	F139L	unknown	Het
Aco1	A	G	4: 40,175,697	E146G	probably damaging	Het
Adam2	T	G	14: 66,034,816	D639A	probably benign	Het
Adh4	G	T	3: 138,428,074	R315L	probably damaging	Het
Adprhl1	T	C	8: 13,248,702	D76G	probably damaging	Het
AF366264	T	C	8: 13,837,870	R74G	probably benign	Het
Akip1	T	C	7: 109,707,519		probably benign	Het
Ap3d1	T	A	10: 80,719,382	K370*	probably null	Het
Arfgef1	C	A	1: 10,199,851	V358L	probably benign	Het
Arpp21	A	T	9: 112,183,498	D85E	probably benign	Het
Azi2	A	T	9: 118,062,057	L383F	probably benign	Het
Bpgm	T	A	6: 34,504,287	D206E	probably benign	Het
Bsn	T	C	9: 108,107,834	D3007G	unknown	Het
Ccdc142	T	G	6: 83,107,198		probably benign	Het
Cep135	T	C	5: 76,615,657	V498A	probably benign	Het
Cntn6	A	T	6: 104,863,148	Q1003L	probably benign	Het
Cntnap2	T	A	6: 47,296,708		probably benign	Het
Csf2rb2	G	A	15: 78,291,960	Q139*	probably null	Het
Cyp3a16	A	G	5: 145,463,085	V101A	probably benign	Het
D630045J12Rik	T	C	6: 38,196,778	T152A	probably benign	Het
Def8	G	A	8: 123,454,357	W176*	probably null	Het
Ear10	T	C	14: 43,922,994		probably null	Het
Fbxw2	A	T	2: 34,822,847	Y67*	probably null	Het
Flii	T	A	11: 60,715,552	Y1104F	probably damaging	Het
Gm973	G	A	1: 59,551,144	R270K	probably benign	Het
Gm9833	T	C	3: 10,088,783	L204P	possibly damaging	Het
Gnl3	T	A	14: 31,017,153	K75N	probably damaging	Het
Gpc6	A	T	14: 117,624,493	M274L	probably benign	Het
Ifi47	A	G	11: 49,096,651	E415G	possibly damaging	Het
Ift57	A	G	16: 49,711,896	T130A	probably benign	Het
Itpr2	T	A	6: 146,171,412	D2373V	probably damaging	Het
Kat6a	T	C	8: 22,939,323	S1565P	possibly damaging	Het
Klhl6	A	T	16: 19,948,073		probably benign	Het
Klra2	T	C	6: 131,220,104		probably benign	Het
Lama5	A	G	2: 180,189,331		probably null	Het
Mapk4	A	G	18: 73,930,454	S566P	probably benign	Het
Mindy4	C	A	6: 55,276,585	R480S	possibly damaging	Het
Mterf3	T	C	13: 66,922,753		probably benign	Het
Mtmr2	A	G	9: 13,801,913		probably null	Het
Naip5	T	C	13: 100,219,688	T1140A	probably benign	Het
Nf1	A	G	11: 79,535,703	T1648A	probably damaging	Het
Nlk	A	T	11: 78,695,844	D141E	probably benign	Het
Noxa1	C	A	2: 25,086,094		probably benign	Het
Olfr1279	A	G	2: 111,306,412	N69S	probably benign	Het
Olfr1480	A	T	19: 13,530,249	Y236F	possibly damaging	Het
Olfr476	T	C	7: 107,967,472	V25A	probably benign	Het
Otog	G	A	7: 46,264,228		probably null	Het
Pebp4	T	C	14: 70,048,347		probably benign	Het
Phgdh	G	T	3: 98,333,291	N100K	possibly damaging	Het
Pnisr	T	A	4: 21,873,800		probably benign	Het
Ptpn6	T	C	6: 124,725,279	H346R	probably benign	Het
Rsf1	T	C	7: 97,662,019	V652A	possibly damaging	Het
Rubcn	G	A	16: 32,828,686	H624Y	probably damaging	Het
Setdb2	T	C	14: 59,406,704	N656D	probably benign	Het
Slc22a23	T	C	13: 34,299,093	T268A	probably benign	Het
Slc3a1	A	T	17: 85,032,794	T215S	possibly damaging	Het
Srsf2	A	G	11: 116,852,078	S206P	probably benign	Het
Susd2	T	A	10: 75,639,350	D542V	probably damaging	Het
Svep1	G	A	4: 58,073,121	Q2063*	probably null	Het
Syne2	G	A	12: 75,930,983	V1401M	possibly damaging	Het
Tenm2	A	G	11: 36,943,976	L64P	probably damaging	Het
Tigd2	A	G	6: 59,211,287	T380A	possibly damaging	Het
Trmt12	G	T	15: 58,873,985	V411F	probably damaging	Het
Ubr4	T	C	4: 139,436,302		probably null	Het
Ush2a	G	A	1: 188,822,738	C3571Y	probably benign	Het
Usp8	A	G	2: 126,720,110	M75V	possibly damaging	Het
Vcan	C	T	13: 89,704,706	D712N	probably damaging	Het
Vcan	C	A	13: 89,712,267	R327L	probably damaging	Het
Vps8	A	G	16: 21,434,933	E8G	probably benign	Het
Washc5	T	C	15: 59,359,409	D335G	probably benign	Het
Zbtb39	A	G	10: 127,742,835	N426S	probably benign	Het
Zfp184	T	A	13: 21,949,749	D55E	probably damaging	Het
Zfp882	T	C	8: 71,914,337	V336A	probably benign	Het

Other mutations in Dgkg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00592:Dgkg	APN	16	22479362	splice site	probably benign
IGL01347:Dgkg	APN	16	22600590	missense	probably benign	0.13
IGL02313:Dgkg	APN	16	22570230	splice site	probably benign
IGL02498:Dgkg	APN	16	22548691	missense	probably damaging	1.00
IGL02954:Dgkg	APN	16	22622253	missense	probably benign	0.00
IGL03103:Dgkg	APN	16	22580525	missense	probably damaging	1.00
R0014:Dgkg	UTSW	16	22565364	splice site	probably null
R0666:Dgkg	UTSW	16	22562730	missense	probably damaging	1.00
R1056:Dgkg	UTSW	16	22600541	missense	probably damaging	1.00
R1495:Dgkg	UTSW	16	22500379	missense	probably damaging	1.00
R1603:Dgkg	UTSW	16	22570159	splice site	probably benign
R1993:Dgkg	UTSW	16	22600594	missense	probably damaging	1.00
R2073:Dgkg	UTSW	16	22565317	missense	probably damaging	0.96
R2192:Dgkg	UTSW	16	22588299	missense	probably damaging	0.98
R2251:Dgkg	UTSW	16	22622260	start codon destroyed	probably null	0.98
R2252:Dgkg	UTSW	16	22622260	start codon destroyed	probably null	0.98
R3104:Dgkg	UTSW	16	22575341	missense	probably damaging	1.00
R3105:Dgkg	UTSW	16	22575341	missense	probably damaging	1.00
R3106:Dgkg	UTSW	16	22575341	missense	probably damaging	1.00
R4804:Dgkg	UTSW	16	22575193	intron	probably benign
R5272:Dgkg	UTSW	16	22588294	splice site	probably null
R5364:Dgkg	UTSW	16	22600461	missense	probably benign	0.03
R5417:Dgkg	UTSW	16	22588331	missense	possibly damaging	0.50
R5677:Dgkg	UTSW	16	22570171	missense	probably benign	0.00
R5839:Dgkg	UTSW	16	22566494	missense	possibly damaging	0.91
R5931:Dgkg	UTSW	16	22558038	nonsense	probably null
R6313:Dgkg	UTSW	16	22519561	missense	probably damaging	0.96
R7017:Dgkg	UTSW	16	22572713	missense	probably benign	0.31
R7135:Dgkg	UTSW	16	22500382	missense	probably damaging	1.00
R7326:Dgkg	UTSW	16	22548690	missense	probably damaging	1.00
R7476:Dgkg	UTSW	16	22622304	start gained	probably benign
R7812:Dgkg	UTSW	16	22566415	missense	probably damaging	1.00
Z1088:Dgkg	UTSW	16	22469328	missense	probably damaging	0.96
Z1088:Dgkg	UTSW	16	22572686	missense	probably benign	0.31

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