Mutagenetix > Incidental Mutation

Incidental Mutation 'R0618:Dgka'

68113

Institutional Source

Beutler Lab

Gene Symbol

Dgka

Ensembl Gene

ENSMUSG00000025357

Gene Name

diacylglycerol kinase, alpha

Synonyms

Dagk1

MMRRC Submission

038807-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.366) question?

Stock #

R0618 (G1)

Quality Score

188

Status

Not validated

Chromosome

Chromosomal Location

128556003-128580724 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to C at 128556952 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152021 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026414] [ENSMUST00000054125] [ENSMUST00000219834]

AlphaFold

O88673

Predicted Effect

probably benign
Transcript: ENSMUST00000026414

SMART Domains

Protein: ENSMUSP00000026414
Gene: ENSMUSG00000025357

Domain	Start	End	E-Value	Type
Pfam:DAG_kinase_N	4	93	6.9e-31	PFAM
EFh	115	143	3.82e0	SMART
EFh	160	188	1.29e-4	SMART
C1	207	254	2.29e-10	SMART
C1	269	320	6.91e-5	SMART
DAGKc	372	495	3.11e-62	SMART
DAGKa	515	696	4.1e-103	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000054125

SMART Domains

Protein: ENSMUSP00000051869
Gene: ENSMUSG00000025359

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
low complexity region	132	144	N/A	INTRINSIC
PKD	228	310	3.17e-7	SMART
low complexity region	326	348	N/A	INTRINSIC
low complexity region	377	396	N/A	INTRINSIC
transmembrane domain	559	581	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000219834

Coding Region Coverage

1x: 99.6%
3x: 99.0%
10x: 97.5%
20x: 95.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the eukaryotic diacylglycerol kinase family. It acts as a modulator that competes with protein kinase C for the second messenger diacylglycerol in intracellular signaling pathways. It also plays an important role in the resynthesis of phosphatidylinositols and phosphorylating diacylglycerol to phosphatidic acid. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in impaired induction of T cell anergy. T cells stimulated in anergy producing conditions show increased proliferation and interleukin 2 production. Mice homozygous for a transgenic gene disruption exhibit male infertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 1 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Prag1	G	A	8: 36,566,987 (GRCm39)	R46H	probably damaging	Het

Other mutations in Dgka

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Dgka	APN	10	128,568,955 (GRCm39)	missense	probably damaging	1.00
IGL02479:Dgka	APN	10	128,566,115 (GRCm39)	missense	probably benign	0.01
IGL02727:Dgka	APN	10	128,558,317 (GRCm39)	splice site	probably benign
IGL02817:Dgka	APN	10	128,566,097 (GRCm39)	missense	probably benign
IGL02882:Dgka	APN	10	128,569,253 (GRCm39)	missense	possibly damaging	0.77
IGL03239:Dgka	APN	10	128,557,254 (GRCm39)	splice site	probably benign
Caps	UTSW	10	128,566,071 (GRCm39)	nonsense	probably null
Greenie	UTSW	10	128,568,962 (GRCm39)	missense	probably benign	0.03
Hangup	UTSW	10	128,556,356 (GRCm39)	missense	probably damaging	1.00
Stickem	UTSW	10	128,559,548 (GRCm39)	missense	probably damaging	1.00
R0321:Dgka	UTSW	10	128,556,952 (GRCm39)	splice site	probably benign
R0374:Dgka	UTSW	10	128,556,952 (GRCm39)	splice site	probably benign
R0482:Dgka	UTSW	10	128,569,990 (GRCm39)	nonsense	probably null
R0494:Dgka	UTSW	10	128,556,952 (GRCm39)	splice site	probably benign
R0573:Dgka	UTSW	10	128,572,876 (GRCm39)	critical splice donor site	probably null
R0594:Dgka	UTSW	10	128,568,979 (GRCm39)	splice site	probably benign
R0607:Dgka	UTSW	10	128,556,338 (GRCm39)	splice site	probably null
R0691:Dgka	UTSW	10	128,559,129 (GRCm39)	splice site	probably benign
R1378:Dgka	UTSW	10	128,571,696 (GRCm39)	splice site	probably null
R1424:Dgka	UTSW	10	128,569,202 (GRCm39)	missense	possibly damaging	0.57
R1955:Dgka	UTSW	10	128,566,058 (GRCm39)	critical splice donor site	probably null
R1972:Dgka	UTSW	10	128,556,335 (GRCm39)	missense	probably damaging	0.99
R1998:Dgka	UTSW	10	128,565,808 (GRCm39)	missense	probably benign	0.00
R2046:Dgka	UTSW	10	128,559,404 (GRCm39)	missense	probably damaging	1.00
R4206:Dgka	UTSW	10	128,557,064 (GRCm39)	missense	probably damaging	1.00
R4418:Dgka	UTSW	10	128,563,963 (GRCm39)	missense	probably damaging	1.00
R4752:Dgka	UTSW	10	128,572,528 (GRCm39)	missense	probably benign	0.03
R5092:Dgka	UTSW	10	128,571,702 (GRCm39)	missense	probably damaging	0.99
R5479:Dgka	UTSW	10	128,565,541 (GRCm39)	critical splice acceptor site	probably null
R6009:Dgka	UTSW	10	128,559,548 (GRCm39)	missense	probably damaging	1.00
R6273:Dgka	UTSW	10	128,559,515 (GRCm39)	missense	probably benign	0.03
R6852:Dgka	UTSW	10	128,558,408 (GRCm39)	missense	probably damaging	1.00
R6947:Dgka	UTSW	10	128,568,884 (GRCm39)	missense	probably damaging	1.00
R6973:Dgka	UTSW	10	128,565,463 (GRCm39)	splice site	probably null
R7024:Dgka	UTSW	10	128,556,356 (GRCm39)	missense	probably damaging	1.00
R7076:Dgka	UTSW	10	128,569,452 (GRCm39)	missense	probably damaging	0.99
R7290:Dgka	UTSW	10	128,569,468 (GRCm39)	missense	probably damaging	0.99
R7397:Dgka	UTSW	10	128,556,594 (GRCm39)	missense	possibly damaging	0.95
R7823:Dgka	UTSW	10	128,572,135 (GRCm39)	missense	probably benign	0.00
R7856:Dgka	UTSW	10	128,572,533 (GRCm39)	missense	probably benign
R8118:Dgka	UTSW	10	128,558,318 (GRCm39)	splice site	probably null
R8360:Dgka	UTSW	10	128,563,997 (GRCm39)	missense	probably damaging	0.99
R8374:Dgka	UTSW	10	128,557,112 (GRCm39)	missense	probably benign	0.01
R8547:Dgka	UTSW	10	128,556,881 (GRCm39)	missense	probably damaging	1.00
R8686:Dgka	UTSW	10	128,568,962 (GRCm39)	missense	probably benign	0.03
R9013:Dgka	UTSW	10	128,566,071 (GRCm39)	nonsense	probably null
R9307:Dgka	UTSW	10	128,567,046 (GRCm39)	missense	probably damaging	1.00
R9336:Dgka	UTSW	10	128,566,935 (GRCm39)	critical splice donor site	probably null
R9423:Dgka	UTSW	10	128,557,055 (GRCm39)	missense	probably damaging	0.96
X0020:Dgka	UTSW	10	128,557,186 (GRCm39)	missense	probably damaging	1.00
Z1177:Dgka	UTSW	10	128,556,337 (GRCm39)	missense	probably benign	0.00
Z1177:Dgka	UTSW	10	128,567,034 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

Posted On

2013-09-03