Mutagenetix > Incidental Mutations

Incidental Mutation 'R2073:Dgkg'

227373

Institutional Source

Beutler Lab

Gene Symbol

Dgkg

Ensembl Gene

ENSMUSG00000022861

Gene Name

diacylglycerol kinase, gamma

Synonyms

E430001K23Rik, 2900055E17Rik, Dagk3

MMRRC Submission

040078-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R2073 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

22468461-22657221 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 22565317 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 462 (F462S)

Ref Sequence

ENSEMBL: ENSMUSP00000087371 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023578
AA Change: F423S

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000023578
Gene: ENSMUSG00000022861
AA Change: F423S

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 damaging
Transcript: ENSMUST00000089925
AA Change: F462S

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000087371
Gene: ENSMUSG00000022861
AA Change: F462S

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110017D15Rik	A	G	4: 41,507,519		probably null	Het
2310057M21Rik	T	C	7: 131,357,513	R153G	probably benign	Het
4930430A15Rik	T	C	2: 111,200,418	E382G	probably damaging	Het
5730596B20Rik	C	A	6: 52,178,982	Y9*	probably null	Het
9130011E15Rik	A	T	19: 45,965,381	I188K	probably damaging	Het
Aco1	G	A	4: 40,183,605	G508S	probably damaging	Het
Acot3	A	G	12: 84,053,456	H2R	possibly damaging	Het
Adamts13	T	A	2: 27,006,314	C1240S	probably damaging	Het
Adra1b	T	C	11: 43,835,871	N73S	probably damaging	Het
Aebp2	G	A	6: 140,633,694	S219N	probably benign	Het
Akap8l	C	T	17: 32,332,483	R511H	probably damaging	Het
Ank	T	C	15: 27,565,022	S270P	probably benign	Het
Ankle1	G	A	8: 71,409,329	R492H	possibly damaging	Het
Ankub1	G	A	3: 57,692,292	H19Y	possibly damaging	Het
Anln	C	A	9: 22,333,168	W1083L	probably benign	Het
Apaf1	G	T	10: 91,031,694	S763*	probably null	Het
Apba3	A	G	10: 81,269,294	T134A	probably benign	Het
Bod1l	C	T	5: 41,819,189	S1594N	probably benign	Het
C7	T	C	15: 4,990,428	M746V	probably benign	Het
Cdkn2a	T	A	4: 89,294,493	I11F	possibly damaging	Het
Cideb	T	C	14: 55,755,160	M100V	possibly damaging	Het
Cntnap5c	T	C	17: 58,305,552	L862P	possibly damaging	Het
Coch	A	T	12: 51,602,689	D261V	probably benign	Het
Cyp2ab1	A	G	16: 20,313,889	F220L	possibly damaging	Het
Ddx10	A	T	9: 53,240,505	D73E	probably benign	Het
Dlgap3	C	T	4: 127,195,366	H252Y	probably damaging	Het
Dmd	G	C	X: 84,312,483	A2257P	probably benign	Het
Dtnb	A	G	12: 3,781,273	T658A	probably benign	Het
Duox2	T	A	2: 122,295,158	S323C	probably damaging	Het
Dync1h1	T	A	12: 110,614,592	I251N	probably damaging	Het
Eml5	A	G	12: 98,802,446	S1457P	probably damaging	Het
Fam114a1	T	A	5: 64,995,904		probably null	Het
Fcho1	A	T	8: 71,710,489	L632Q	probably damaging	Het
Gm12695	T	C	4: 96,723,945	Y527C	possibly damaging	Het
Gm16223	T	C	5: 42,214,599	C111R	unknown	Het
H2-Q4	T	A	17: 35,380,402	S154T	possibly damaging	Het
Hhat	A	G	1: 192,727,379	F125L	possibly damaging	Het
Ier5l	T	A	2: 30,473,056	D319V	probably damaging	Het
Kif5a	T	C	10: 127,245,369	D232G	probably damaging	Het
M1ap	A	G	6: 82,981,882	I165V	probably benign	Het
Map2k4	A	C	11: 65,693,456	F334V	probably damaging	Het
Mmp19	G	A	10: 128,794,979	R156H	probably damaging	Het
Mpped2	T	A	2: 106,744,802	Y77*	probably null	Het
Nhs	T	A	X: 161,842,721	H544L	probably damaging	Het
Nr4a1	C	A	15: 101,274,067	H541N	probably damaging	Het
Olfr1247	A	G	2: 89,609,478	V208A	probably benign	Het
Olfr1484	A	T	19: 13,585,601	Q99L	probably damaging	Het
Pak6	A	C	2: 118,688,851	N17T	probably damaging	Het
Pcnt	T	A	10: 76,380,380	T2225S	possibly damaging	Het
Pdzd2	A	G	15: 12,385,819	L955P	probably damaging	Het
Phf21a	A	G	2: 92,348,036	D357G	probably damaging	Het
Pih1d3	A	G	1: 31,222,996	S20G	probably benign	Het
Pkhd1l1	G	T	15: 44,558,639	A3102S	probably damaging	Het
Plch2	A	T	4: 154,989,909	L754Q	probably damaging	Het
Plekhd1	A	G	12: 80,721,292	N335D	probably benign	Het
Pole	C	A	5: 110,325,551	T1737N	probably damaging	Het
Pramel6	G	A	2: 87,508,744	S96N	probably damaging	Het
Prdm14	A	C	1: 13,125,730	Y36D	possibly damaging	Het
Psg27	T	C	7: 18,560,417	D355G	probably damaging	Het
Rfc1	A	T	5: 65,301,939	D225E	probably damaging	Het
Sec16a	A	G	2: 26,440,239	I588T	probably damaging	Het
Setd6	G	A	8: 95,716,788	V60M	probably damaging	Het
Sgk3	A	G	1: 9,891,424	I432V	probably benign	Het
Six2	A	G	17: 85,687,505	S150P	probably damaging	Het
Slc1a6	T	C	10: 78,800,130	V343A	possibly damaging	Het
Slc43a3	T	C	2: 84,944,612		probably null	Het
Smc3	A	G	19: 53,631,533	D620G	probably benign	Het
Smg6	C	G	11: 74,930,294	P464A	probably damaging	Het
Sox11	T	C	12: 27,342,279	T44A	possibly damaging	Het
Spata22	A	G	11: 73,336,226	R89G	possibly damaging	Het
Stk3	T	C	15: 34,959,049	M256V	possibly damaging	Het
Syne2	A	G	12: 76,015,579	D4226G	possibly damaging	Het
Tecpr2	T	C	12: 110,968,429	S1370P	possibly damaging	Het
Tek	A	G	4: 94,827,729	I463V	probably benign	Het
Trib1	T	A	15: 59,654,340	I253N	probably damaging	Het
Triobp	G	T	15: 78,973,895	G1232V	probably damaging	Het
Trpm6	G	A	19: 18,876,042	V1809M	probably damaging	Het
Tsc22d4	A	G	5: 137,762,487	K57E	possibly damaging	Het
Vmn2r109	T	A	17: 20,564,712	K15N	probably benign	Het
Wdr78	G	A	4: 103,050,193	T632M	probably damaging	Het
Wnt9a	A	G	11: 59,331,229	N318D	probably damaging	Het
Wwp1	A	G	4: 19,662,181	V138A	possibly damaging	Het
Zfp37	A	T	4: 62,191,708	M411K	probably damaging	Het
Zfp715	T	A	7: 43,311,120	T16S	probably benign	Het
Zfp932	A	G	5: 110,009,818	T461A	possibly damaging	Het
Zscan29	A	T	2: 121,160,855	C817*	probably null	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
R0636:Dgkg	UTSW	16	22579729	splice site	probably benign
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
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'- TCCTTCAGAGACAAGGTAGACAGG -3'
(R):5'- AGCTTTTGGCCAGAGGGAAG -3'

Sequencing Primer
(F):5'- GGTAGACAGGGCAACTTCC -3'
(R):5'- CTTTTGGCCAGAGGGAAGGATATG -3'

Posted On

2014-09-17