Mutagenetix > Incidental Mutation

Incidental Mutation 'R0666:Dgkg'

62044

Institutional Source

Beutler Lab

Gene Symbol

Dgkg

Ensembl Gene

ENSMUSG00000022861

Gene Name

diacylglycerol kinase, gamma

Synonyms

2900055E17Rik, E430001K23Rik, Dagk3

MMRRC Submission

038851-MU

Accession Numbers

Essential gene?

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

Stock #

R0666 (G1)

Quality Score

104

Status

Validated

Chromosome

Chromosomal Location

22287211-22475971 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 22381480 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 490 (D490V)

Ref Sequence

ENSEMBL: ENSMUSP00000087371 (fasta)

Gene Model

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

AlphaFold

Q91WG7

Predicted Effect

probably damaging
Transcript: ENSMUST00000023578
AA Change: D451V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023578
Gene: ENSMUSG00000022861
AA Change: D451V

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: D490V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000087371
Gene: ENSMUSG00000022861
AA Change: D490V

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

Meta Mutation Damage Score

0.9616

Coding Region Coverage

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

Validation Efficiency

100% (89/89)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap6	T	A	12: 52,958,591 (GRCm39)	V782E	probably damaging	Het
Atg9a	A	G	1: 75,161,734 (GRCm39)	L604P	probably damaging	Het
Atp1a3	T	C	7: 24,689,974 (GRCm39)	I482V	probably benign	Het
Bltp2	T	G	11: 78,178,813 (GRCm39)	M2026R	probably damaging	Het
Bltp2	T	A	11: 78,168,038 (GRCm39)	L1491*	probably null	Het
Ccdc18	T	G	5: 108,311,530 (GRCm39)	V412G	probably benign	Het
Ccn6	T	C	10: 39,027,285 (GRCm39)	R316G	probably benign	Het
Cct6a	A	G	5: 129,871,449 (GRCm39)		noncoding transcript	Het
Clpx	A	G	9: 65,217,507 (GRCm39)	N25S	probably damaging	Het
Cnpy2	T	A	10: 128,162,894 (GRCm39)	C171*	probably null	Het
Cntnap3	C	T	13: 64,905,211 (GRCm39)	D857N	probably damaging	Het
Col5a1	A	G	2: 27,922,697 (GRCm39)	Y255C	probably damaging	Het
Coro7	A	T	16: 4,449,775 (GRCm39)	F638Y	possibly damaging	Het
Cpd	A	G	11: 76,673,153 (GRCm39)	F1331L	probably damaging	Het
Csmd1	A	T	8: 16,119,063 (GRCm39)	I1842N	possibly damaging	Het
Dnah9	A	T	11: 65,976,284 (GRCm39)	M1255K	probably benign	Het
E2f1	A	G	2: 154,402,849 (GRCm39)	V306A	probably benign	Het
Entpd1	A	G	19: 40,648,350 (GRCm39)		probably benign	Het
Esrrb	T	A	12: 86,552,676 (GRCm39)	I222N	probably benign	Het
Flt4	G	T	11: 49,516,274 (GRCm39)	A126S	possibly damaging	Het
Galnt11	C	T	5: 25,457,145 (GRCm39)	T237I	possibly damaging	Het
Galnt2l	A	T	8: 122,997,727 (GRCm39)		probably benign	Het
Gbf1	A	G	19: 46,250,983 (GRCm39)		probably benign	Het
H2-T9	T	C	17: 36,438,726 (GRCm39)	T222A	possibly damaging	Het
Herc1	T	A	9: 66,392,170 (GRCm39)		probably benign	Het
Hsph1	T	C	5: 149,554,967 (GRCm39)	Y105C	probably damaging	Het
Il23r	T	C	6: 67,411,664 (GRCm39)	T358A	probably benign	Het
Il2ra	C	T	2: 11,647,884 (GRCm39)		probably benign	Het
Kbtbd4	G	T	2: 90,744,459 (GRCm39)		probably benign	Het
Kcnt1	A	G	2: 25,781,255 (GRCm39)		probably benign	Het
Kng2	A	G	16: 22,815,872 (GRCm39)		probably benign	Het
Lap3	C	T	5: 45,669,270 (GRCm39)	T473I	possibly damaging	Het
Lrrk2	T	C	15: 91,641,273 (GRCm39)		probably null	Het
Map1s	A	G	8: 71,366,696 (GRCm39)	N534D	possibly damaging	Het
Mtg1	G	A	7: 139,724,257 (GRCm39)	V122I	probably benign	Het
Myadm	T	A	7: 3,345,865 (GRCm39)	I209K	probably damaging	Het
Ntsr2	G	A	12: 16,703,981 (GRCm39)	V75I	probably benign	Het
Or4b1b	A	T	2: 90,112,212 (GRCm39)	S236T	probably damaging	Het
Or8u10	G	A	2: 85,915,557 (GRCm39)	A188V	probably benign	Het
Pfn1	T	C	11: 70,545,192 (GRCm39)	T39A	probably benign	Het
Pipox	T	A	11: 77,774,651 (GRCm39)	K144M	probably benign	Het
Plekhh1	G	A	12: 79,115,889 (GRCm39)	E811K	probably damaging	Het
Pnpla3	T	A	15: 84,063,506 (GRCm39)	W295R	probably benign	Het
Prkacb	T	A	3: 146,457,273 (GRCm39)	T136S	probably damaging	Het
Ralbp1	T	A	17: 66,161,124 (GRCm39)	N473I	probably benign	Het
Rbp4	G	A	19: 38,106,908 (GRCm39)	T127M	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rps3a1	G	A	3: 86,045,424 (GRCm39)		probably benign	Het
Scg3	G	T	9: 75,551,222 (GRCm39)	Y429*	probably null	Het
Shisal2b	G	T	13: 104,994,862 (GRCm39)	T95K	possibly damaging	Het
Spag5	T	C	11: 78,204,222 (GRCm39)	S492P	probably damaging	Het
St7	T	A	6: 17,934,238 (GRCm39)	M540K	probably damaging	Het
Stxbp3	C	A	3: 108,712,618 (GRCm39)	V281F	possibly damaging	Het
Sun5	A	G	2: 153,700,968 (GRCm39)	V242A	possibly damaging	Het
Susd5	G	T	9: 113,924,852 (GRCm39)	R245L	possibly damaging	Het
Syne2	A	G	12: 75,969,787 (GRCm39)	E954G	probably damaging	Het
Synpo2	A	T	3: 122,907,708 (GRCm39)	V536E	probably damaging	Het
Tas2r140	T	C	6: 133,032,405 (GRCm39)	I118V	probably benign	Het
Tbx18	C	A	9: 87,606,462 (GRCm39)	V228L	probably benign	Het
Tdrd9	T	A	12: 111,974,014 (GRCm39)		probably benign	Het
Tektl1	C	A	10: 78,586,381 (GRCm39)	L223F	probably benign	Het
Tg	T	C	15: 66,609,370 (GRCm39)	M310T	probably benign	Het
Ticam2	T	A	18: 46,693,718 (GRCm39)	D123V	probably damaging	Het
Timm23	A	G	14: 31,920,993 (GRCm39)		probably benign	Het
Tinag	C	T	9: 76,912,969 (GRCm39)	R280H	probably benign	Het
Topbp1	G	A	9: 103,186,011 (GRCm39)	R51K	probably benign	Het
Tor1b	A	G	2: 30,843,925 (GRCm39)	I121V	probably damaging	Het
Tpmt	C	A	13: 47,185,930 (GRCm39)	G148V	probably damaging	Het
Tubb1	A	G	2: 174,299,548 (GRCm39)	E410G	probably damaging	Het
Ubash3b	C	A	9: 40,958,360 (GRCm39)	V7L	possibly damaging	Het
Ube2o	C	T	11: 116,433,661 (GRCm39)	E686K	probably damaging	Het
Unc13d	T	A	11: 115,960,318 (GRCm39)		probably benign	Het
Vmn1r183	A	T	7: 23,754,601 (GRCm39)	M135L	probably benign	Het
Xkr8	T	C	4: 132,459,649 (GRCm39)	Y43C	probably damaging	Het
Zc3h4	T	A	7: 16,168,697 (GRCm39)	N935K	unknown	Het
Zc3h7a	G	A	16: 10,974,167 (GRCm39)		probably benign	Het
Zfp84	C	T	7: 29,476,276 (GRCm39)	H323Y	probably damaging	Het
Zfp873	G	T	10: 81,896,595 (GRCm39)	S442I	possibly damaging	Het
Zfp938	A	G	10: 82,061,606 (GRCm39)	L338P	probably damaging	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
R0636:Dgkg	UTSW	16	22,398,479 (GRCm39)	splice site	probably benign
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'- TCAAGCAGCAGTCCAAGCAAGG -3'
(R):5'- TCTCCATAGCTGGGAGCACTACAC -3'

Sequencing Primer
(F):5'- TCCAAGCAAGGGTAGGCAC -3'
(R):5'- cacacacacacacacacac -3'

Posted On

2013-07-30