Mutagenetix > Incidental Mutations

Incidental Mutation 'R2252:Dgkg'

241777

Institutional Source

Beutler Lab

Gene Symbol

Dgkg

Ensembl Gene

ENSMUSG00000022861

Gene Name

diacylglycerol kinase, gamma

Synonyms

E430001K23Rik, 2900055E17Rik, Dagk3

MMRRC Submission

040252-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R2252 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

22468461-22657221 bp(-) (GRCm38)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to T at 22622260 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1 (M1K)

Ref Sequence

ENSEMBL: ENSMUSP00000114441 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000023578
AA Change: M1K

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000023578
Gene: ENSMUSG00000022861
AA Change: M1K

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 null
Transcript: ENSMUST00000089925
AA Change: M1K

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000087371
Gene: ENSMUSG00000022861
AA Change: M1K

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 null
Transcript: ENSMUST00000137311
AA Change: M1K

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114441
Gene: ENSMUSG00000022861
AA Change: M1K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150553

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	G	A	14: 59,142,612	S79F	probably damaging	Het
Acaca	G	T	11: 84,371,532	V1987L	probably damaging	Het
B3gnt3	A	T	8: 71,692,818	M302K	probably damaging	Het
BC048507	T	C	13: 67,863,507	M1T	probably null	Het
Bckdk	C	A	7: 127,905,418	R105S	probably damaging	Het
Casp3	G	T	8: 46,637,955	W214L	probably damaging	Het
Cd180	A	T	13: 102,706,398	K651*	probably null	Het
Cdh15	T	A	8: 122,857,422	D87E	probably damaging	Het
Cldn24	G	T	8: 47,822,328	R62S	probably benign	Het
Cnot1	A	G	8: 95,763,186	V463A	probably benign	Het
Cspg4	C	T	9: 56,898,046	T2047I	probably damaging	Het
Cul2	A	T	18: 3,399,876	L3F	probably damaging	Het
Cwc27	A	T	13: 104,631,729	H419Q	probably damaging	Het
Dock5	A	T	14: 67,784,812	L1171H	probably damaging	Het
Drc1	G	T	5: 30,342,731	V103F	probably benign	Het
Ep400	A	T	5: 110,719,091	N1062K	unknown	Het
Faap20	A	C	4: 155,250,553	E37A	possibly damaging	Het
Foxa2	A	G	2: 148,044,166	F243S	probably damaging	Het
Gzf1	T	C	2: 148,683,936	M109T	probably damaging	Het
Itch	T	A	2: 155,212,339	M701K	probably benign	Het
Kpna1	T	C	16: 36,021,569	Y280H	possibly damaging	Het
L1td1	A	G	4: 98,737,637		probably null	Het
Lrrc37a	T	C	11: 103,501,467	Q1044R	probably benign	Het
Lrrc52	A	T	1: 167,466,368	I116N	probably damaging	Het
Mbd5	A	G	2: 49,257,686	E636G	probably damaging	Het
Mrpl40	T	C	16: 18,875,375	H29R	probably benign	Het
Nrip1	T	C	16: 76,291,285	Y1128C	probably damaging	Het
Olfr1279	A	G	2: 111,306,310	Y35C	probably damaging	Het
Olfr143	A	G	9: 38,253,830	I135V	probably benign	Het
Olfr958	G	T	9: 39,549,977	A298D	probably damaging	Het
Olfr988	A	G	2: 85,353,858	S23P	possibly damaging	Het
Pard3	A	T	8: 127,610,599	E1232V	probably damaging	Het
Pcif1	A	G	2: 164,890,879	E628G	probably benign	Het
Pcsk1	C	A	13: 75,126,726	A478D	probably benign	Het
Pkd1l2	T	C	8: 117,057,438	Y700C	probably damaging	Het
Pknox2	T	C	9: 36,910,520	N270D	probably benign	Het
Plcb2	T	C	2: 118,723,765	N69S	probably benign	Het
Reep1	T	A	6: 71,756,442		probably null	Het
Sash1	A	T	10: 8,729,977	M883K	probably benign	Het
Secisbp2l	C	T	2: 125,740,737	G933D	possibly damaging	Het
Sept4	A	G	11: 87,589,811	N405D	possibly damaging	Het
Serpinb3b	T	C	1: 107,155,478	I231M	possibly damaging	Het
Serping1	A	G	2: 84,769,851	S322P	probably damaging	Het
Slc7a2	T	C	8: 40,905,621	Y334H	probably benign	Het
Spink5	G	T	18: 44,020,824	E1013*	probably null	Het
Thoc3	A	T	13: 54,467,833	N139K	probably benign	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Tubb2b	T	A	13: 34,130,215	I7F	possibly damaging	Het
Upf2	A	G	2: 5,961,460	D297G	unknown	Het
Vmn2r18	T	C	5: 151,584,976	I228V	possibly damaging	Het
Vmn2r98	A	C	17: 19,080,436	S567R	probably benign	Het
Vwa5a	T	C	9: 38,728,080	I369T	probably damaging	Het
Yjefn3	A	C	8: 69,889,445	F42V	probably damaging	Het
Zfp472	A	T	17: 32,976,283	R69*	probably null	Het
Zfp536	T	C	7: 37,479,389	S200G	probably benign	Het
Zfp970	T	A	2: 177,474,821		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
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
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'- TCGAGCATAAGAGTGGTTGC -3'
(R):5'- CAGCATTTCAGGATTGGCTG -3'

Sequencing Primer
(F):5'- TGGATGCAAACACTAATTCTGTG -3'
(R):5'- AGTAGCGGAAGTCCTTC -3'

Posted On

2014-10-16