Mutagenetix > Incidental Mutation

Incidental Mutation 'R9433:Dgkg'

713142

Institutional Source

Beutler Lab

Gene Symbol

Dgkg

Ensembl Gene

ENSMUSG00000022861

Gene Name

diacylglycerol kinase, gamma

Synonyms

2900055E17Rik, E430001K23Rik, Dagk3

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9433 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

22287211-22475971 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 22384065 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 463 (N463Y)

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: N424Y

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000023578
Gene: ENSMUSG00000022861
AA Change: N424Y

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: N463Y

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

SMART Domains

Protein: ENSMUSP00000087371
Gene: ENSMUSG00000022861
AA Change: N463Y

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	T	C	12: 81,466,723 (GRCm39)	T633A	possibly damaging	Het
Adgrv1	A	T	13: 81,714,471 (GRCm39)	F937L	probably benign	Het
Adipor2	A	T	6: 119,336,486 (GRCm39)	F159Y	probably damaging	Het
Ahcyl1	A	G	3: 107,575,645 (GRCm39)	V380A	probably damaging	Het
Akp3	A	G	1: 87,053,517 (GRCm39)	K157E	probably benign	Het
Arpc1a	T	A	5: 145,045,203 (GRCm39)	I364N	possibly damaging	Het
Bach1	C	G	16: 87,516,603 (GRCm39)	S381R	probably benign	Het
Brms1l	G	A	12: 55,912,863 (GRCm39)		probably null	Het
Camk1d	A	G	2: 5,680,777 (GRCm39)	S6P	unknown	Het
Ccdc112	C	A	18: 46,424,040 (GRCm39)	V233L	probably benign	Het
Ccdc113	A	T	8: 96,272,613 (GRCm39)	N240I	possibly damaging	Het
Ccdc168	A	T	1: 44,095,668 (GRCm39)	V1810E	possibly damaging	Het
Ccdc6	T	C	10: 70,004,951 (GRCm39)	V232A	possibly damaging	Het
Cct5	A	G	15: 31,592,883 (GRCm39)	I409T	possibly damaging	Het
Cd96	A	G	16: 45,856,298 (GRCm39)	Y583H	probably damaging	Het
Cdh22	C	T	2: 164,954,329 (GRCm39)	V731M	probably benign	Het
Clcn1	C	T	6: 42,282,494 (GRCm39)	P521S	probably damaging	Het
Clec18a	C	T	8: 111,808,322 (GRCm39)	A27T	probably benign	Het
Cnnm2	C	T	19: 46,750,807 (GRCm39)	A199V	probably benign	Het
Copg1	G	A	6: 87,880,478 (GRCm39)	A494T	possibly damaging	Het
Cpsf2	A	G	12: 101,948,252 (GRCm39)	E16G	probably damaging	Het
Cyp2j5	T	A	4: 96,552,244 (GRCm39)	I2F	probably benign	Het
Dnah11	T	C	12: 117,976,007 (GRCm39)	D2804G	probably damaging	Het
Efcab12	T	C	6: 115,792,995 (GRCm39)	N488D	probably benign	Het
Etv5	G	A	16: 22,254,668 (GRCm39)	P64L	probably damaging	Het
Fbrs	A	G	7: 127,084,272 (GRCm39)	E468G	probably benign	Het
Fcho1	A	T	8: 72,169,468 (GRCm39)	M146K	probably benign	Het
Gad1	A	T	2: 70,423,807 (GRCm39)	M405L		Het
Gcc2	T	A	10: 58,106,592 (GRCm39)	H609Q	probably benign	Het
Gm11983	A	T	11: 6,786,902 (GRCm39)	M75K	unknown	Het
Gm4353	T	A	7: 115,682,871 (GRCm39)	I237F	probably damaging	Het
H1f0	C	T	15: 78,912,947 (GRCm39)	P9L	probably damaging	Het
Hcn4	A	G	9: 58,731,222 (GRCm39)	D143G	unknown	Het
Id1	T	A	2: 152,578,430 (GRCm39)	V57D	probably damaging	Het
Ifna13	T	C	4: 88,562,540 (GRCm39)	Q28R	probably benign	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Lonrf2	G	A	1: 38,875,538 (GRCm39)		probably benign	Het
Magi3	C	T	3: 103,922,473 (GRCm39)	A1415T	probably benign	Het
Mia2	A	G	12: 59,148,371 (GRCm39)	E77G	probably damaging	Het
Muc16	T	A	9: 18,483,937 (GRCm39)	Q6945L	probably benign	Het
Nos2	G	A	11: 78,850,490 (GRCm39)	R1116H	probably damaging	Het
Or2w4	C	T	13: 21,795,224 (GRCm39)	C305Y	probably benign	Het
Parpbp	A	C	10: 87,975,858 (GRCm39)	V85G	probably benign	Het
Pcmtd2	C	T	2: 181,496,837 (GRCm39)	H273Y	possibly damaging	Het
Pcp4l1	C	T	1: 171,001,998 (GRCm39)	G54D	probably damaging	Het
Pkdrej	T	C	15: 85,704,070 (GRCm39)	H622R	probably benign	Het
Plxnd1	G	T	6: 115,945,754 (GRCm39)	D906E	probably benign	Het
Pnpla8	T	C	12: 44,330,305 (GRCm39)	S286P	probably damaging	Het
Prss36	C	T	7: 127,533,339 (GRCm39)	V631I	probably benign	Het
Ptpn9	A	T	9: 56,964,010 (GRCm39)	N381I	possibly damaging	Het
Ranbp9	A	T	13: 43,576,041 (GRCm39)	I222N	probably damaging	Het
Rev1	T	C	1: 38,092,173 (GRCm39)	T1249A	probably damaging	Het
Ripply2	G	T	9: 86,901,715 (GRCm39)	W80C	probably damaging	Het
Rnaseh2b	C	A	14: 62,602,722 (GRCm39)	P235Q	probably benign	Het
Sacs	T	A	14: 61,443,997 (GRCm39)	F2014L	probably damaging	Het
Serpinb9f	A	G	13: 33,518,238 (GRCm39)	N246S	probably benign	Het
Sh3pxd2a	A	T	19: 47,255,539 (GRCm39)	S1088T	probably damaging	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Skint3	A	G	4: 112,137,432 (GRCm39)	I367V	probably benign	Het
Slc20a2	G	T	8: 23,051,211 (GRCm39)	E415*	probably null	Het
Slc5a1	T	A	5: 33,310,025 (GRCm39)	S418T	probably benign	Het
Spats2	G	T	15: 99,076,446 (GRCm39)	G175*	probably null	Het
Srebf1	A	T	11: 60,095,015 (GRCm39)	F485L	possibly damaging	Het
St8sia4	A	G	1: 95,555,364 (GRCm39)	V222A		Het
Stab1	C	T	14: 30,865,531 (GRCm39)	E1786K	probably benign	Het
Stat2	A	G	10: 128,112,657 (GRCm39)	M58V	probably benign	Het
Stat5a	A	G	11: 100,765,870 (GRCm39)	T319A	probably benign	Het
Sufu	A	G	19: 46,385,532 (GRCm39)		probably benign	Het
Tle6	T	A	10: 81,426,880 (GRCm39)	I579F	probably damaging	Het
Tmem131l	A	T	3: 83,845,459 (GRCm39)	D390E	probably benign	Het
Trim33	T	A	3: 103,228,979 (GRCm39)		probably null	Het
Usp54	A	G	14: 20,611,678 (GRCm39)	V1046A	probably benign	Het
Vit	G	A	17: 78,932,413 (GRCm39)	G507R	probably damaging	Het
Vmn2r59	A	G	7: 41,695,590 (GRCm39)	I274T	probably damaging	Het
Vmn2r67	T	A	7: 84,804,917 (GRCm39)	K65M	possibly damaging	Het
Vmn2r86	C	T	10: 130,282,567 (GRCm39)	G683E	possibly damaging	Het
Vwa8	T	C	14: 79,335,871 (GRCm39)		probably null	Het
Zdhhc14	A	G	17: 5,781,779 (GRCm39)	D333G	probably benign	Het
Zup1	G	A	10: 33,795,355 (GRCm39)	S568L	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
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
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'- CCTTCAGAGACAAGGTAGACAG -3'
(R):5'- AGCTTTTGGCCAGAGGGAAG -3'

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

Posted On

2022-05-16