Mutagenetix > Incidental Mutation

Incidental Mutation 'H8477:Dgki'

576

Institutional Source

Beutler Lab

Gene Symbol

Dgki

Ensembl Gene

ENSMUSG00000038665

Gene Name

diacylglycerol kinase, iota

Synonyms

C130010K08Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

H8477 (G3) of strain 600

Quality Score

Status

Validated

Chromosome

Chromosomal Location

36822957-37277119 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 37006786 bp (GRCm39)

Zygosity

Homozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000138457 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042075] [ENSMUST00000090314] [ENSMUST00000101532] [ENSMUST00000138286] [ENSMUST00000150300]

AlphaFold

D3YWQ0

Predicted Effect

probably benign
Transcript: ENSMUST00000042075

SMART Domains

Protein: ENSMUSP00000047858
Gene: ENSMUSG00000038665

Domain	Start	End	E-Value	Type
C1	22	76	3.67e-1	SMART
C1	95	153	5.92e-4	SMART
DAGKc	220	344	6.73e-58	SMART
DAGKa	370	527	2.29e-92	SMART
ANK	792	822	5.53e-3	SMART
ANK	828	857	2.07e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000090314

SMART Domains

Protein: ENSMUSP00000087788
Gene: ENSMUSG00000038665

Domain	Start	End	E-Value	Type
low complexity region	10	34	N/A	INTRINSIC
low complexity region	36	50	N/A	INTRINSIC
low complexity region	54	116	N/A	INTRINSIC
C1	173	227	3.67e-1	SMART
C1	246	304	5.92e-4	SMART
DAGKc	371	495	6.73e-58	SMART
DAGKa	521	678	2.29e-92	SMART
ANK	943	973	5.53e-3	SMART
ANK	979	1008	2.07e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000101532

SMART Domains

Protein: ENSMUSP00000099071
Gene: ENSMUSG00000038665

Domain	Start	End	E-Value	Type
low complexity region	10	34	N/A	INTRINSIC
low complexity region	36	50	N/A	INTRINSIC
low complexity region	54	116	N/A	INTRINSIC
C1	173	227	3.67e-1	SMART
C1	246	304	5.92e-4	SMART
DAGKc	371	495	6.73e-58	SMART
DAGKa	521	678	2.29e-92	SMART
ANK	964	994	5.53e-3	SMART
ANK	1000	1029	2.07e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000138286

SMART Domains

Protein: ENSMUSP00000138628
Gene: ENSMUSG00000038665

Domain	Start	End	E-Value	Type
low complexity region	10	34	N/A	INTRINSIC
low complexity region	36	50	N/A	INTRINSIC
low complexity region	54	116	N/A	INTRINSIC
C1	173	227	1.8e-3	SMART
C1	246	304	2.9e-6	SMART
DAGKc	371	495	3.2e-60	SMART
DAGKa	521	678	1.1e-94	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143046

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146656

Predicted Effect

probably benign
Transcript: ENSMUST00000150300

SMART Domains

Protein: ENSMUSP00000138457
Gene: ENSMUSG00000038665

Domain	Start	End	E-Value	Type
low complexity region	10	34	N/A	INTRINSIC
low complexity region	36	50	N/A	INTRINSIC
low complexity region	54	116	N/A	INTRINSIC
C1	173	227	3.67e-1	SMART
C1	246	304	5.92e-4	SMART
DAGKc	371	495	6.73e-58	SMART
DAGKa	521	591	1.43e-6	SMART

Coding Region Coverage

1x: 82.8%
3x: 56.2%

Het Detection Efficiency

41.2%

Validation Efficiency

100% (6/6)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the type IV diacylglycerol kinase subfamily. Diacylglycerol kinases regulate the intracellular concentration of diacylglycerol through its phosphorylation, producing phosphatidic acid. The specific role of the enzyme encoded by this gene is undetermined, however, it may play a crucial role in the production of phosphatidic acid in the retina or in recessive forms of retinal degeneration. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are grossly normal and do not develop tumors when wounded or when exposed to phorbol ester. [provided by MGI curators]

Allele List at MGI

All alleles(8) : Targeted, knock-out(1) Gene trapped(7)

Other mutations in this stock

Total: 1 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Kcnj6	G	A	16: 94,633,796 (GRCm39)	T87M	probably damaging	Homo

Other mutations in Dgki

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00923:Dgki	APN	6	36,839,391 (GRCm39)	missense	probably benign	0.00
IGL00951:Dgki	APN	6	36,977,094 (GRCm39)	missense	probably damaging	0.97
IGL01087:Dgki	APN	6	36,989,846 (GRCm39)	missense	probably damaging	1.00
IGL01396:Dgki	APN	6	36,977,025 (GRCm39)	missense	probably damaging	1.00
IGL02113:Dgki	APN	6	36,890,560 (GRCm39)	splice site	probably benign
IGL02174:Dgki	APN	6	37,009,856 (GRCm39)	missense	probably damaging	1.00
IGL02215:Dgki	APN	6	36,993,610 (GRCm39)	missense	probably damaging	1.00
IGL02353:Dgki	APN	6	36,824,324 (GRCm39)	missense	probably damaging	1.00
IGL02360:Dgki	APN	6	36,824,324 (GRCm39)	missense	probably damaging	1.00
IGL02662:Dgki	APN	6	36,839,421 (GRCm39)	splice site	probably benign
IGL02891:Dgki	APN	6	36,890,676 (GRCm39)	missense	probably benign	0.15
IGL03040:Dgki	APN	6	37,126,599 (GRCm39)	splice site	probably benign
IGL03064:Dgki	APN	6	37,126,599 (GRCm39)	splice site	probably benign
IGL03283:Dgki	APN	6	36,914,246 (GRCm39)	splice site	probably benign
IGL03349:Dgki	APN	6	37,074,562 (GRCm39)	critical splice acceptor site	probably null
PIT4151001:Dgki	UTSW	6	37,040,916 (GRCm39)	missense	probably benign	0.00
R0392:Dgki	UTSW	6	36,977,113 (GRCm39)	missense	probably damaging	1.00
R0630:Dgki	UTSW	6	36,977,133 (GRCm39)	missense	probably damaging	1.00
R0718:Dgki	UTSW	6	36,989,831 (GRCm39)	missense	probably damaging	1.00
R1420:Dgki	UTSW	6	37,027,204 (GRCm39)	splice site	probably null
R1546:Dgki	UTSW	6	37,027,138 (GRCm39)	missense	probably damaging	1.00
R1634:Dgki	UTSW	6	36,892,425 (GRCm39)	missense	probably benign
R1639:Dgki	UTSW	6	36,914,299 (GRCm39)	missense	probably damaging	1.00
R1738:Dgki	UTSW	6	37,034,367 (GRCm39)	missense	possibly damaging	0.93
R1750:Dgki	UTSW	6	36,893,369 (GRCm39)	missense	probably damaging	0.96
R1808:Dgki	UTSW	6	37,126,509 (GRCm39)	missense	possibly damaging	0.84
R1834:Dgki	UTSW	6	37,011,636 (GRCm39)	splice site	probably benign
R2001:Dgki	UTSW	6	36,842,736 (GRCm39)	missense	possibly damaging	0.94
R2047:Dgki	UTSW	6	36,890,581 (GRCm39)	missense	possibly damaging	0.69
R2413:Dgki	UTSW	6	36,824,408 (GRCm39)	missense	possibly damaging	0.49
R3034:Dgki	UTSW	6	37,064,605 (GRCm39)	missense	probably damaging	1.00
R4493:Dgki	UTSW	6	36,951,796 (GRCm39)	intron	probably benign
R4684:Dgki	UTSW	6	37,276,781 (GRCm39)	unclassified	probably benign
R4727:Dgki	UTSW	6	37,276,748 (GRCm39)	unclassified	probably benign
R5104:Dgki	UTSW	6	37,126,509 (GRCm39)	missense	possibly damaging	0.84
R5756:Dgki	UTSW	6	36,913,993 (GRCm39)	intron	probably benign
R6946:Dgki	UTSW	6	37,276,571 (GRCm39)	nonsense	probably null
R8357:Dgki	UTSW	6	36,827,891 (GRCm39)	missense	possibly damaging	0.94
R8363:Dgki	UTSW	6	36,993,613 (GRCm39)	missense	probably damaging	1.00
R8424:Dgki	UTSW	6	36,827,850 (GRCm39)	missense	probably benign	0.27
R8457:Dgki	UTSW	6	36,827,891 (GRCm39)	missense	possibly damaging	0.94
R8791:Dgki	UTSW	6	36,996,875 (GRCm39)	missense	probably damaging	1.00
R8880:Dgki	UTSW	6	37,011,652 (GRCm39)	intron	probably benign
R8883:Dgki	UTSW	6	36,993,608 (GRCm39)	missense	probably damaging	1.00
R9000:Dgki	UTSW	6	37,074,643 (GRCm39)	intron	probably benign
R9221:Dgki	UTSW	6	37,273,615 (GRCm39)	missense	probably benign	0.01
R9290:Dgki	UTSW	6	37,276,780 (GRCm39)	missense	unknown
R9320:Dgki	UTSW	6	36,892,422 (GRCm39)	missense	probably damaging	1.00
R9641:Dgki	UTSW	6	37,126,489 (GRCm39)	missense	probably damaging	0.98
R9674:Dgki	UTSW	6	37,027,157 (GRCm39)	missense	probably damaging	0.97
R9726:Dgki	UTSW	6	37,276,858 (GRCm39)	missense	unknown
X0066:Dgki	UTSW	6	37,040,932 (GRCm39)	missense	probably damaging	1.00
Z1177:Dgki	UTSW	6	36,952,160 (GRCm39)	missense	probably damaging	1.00

Nature of Mutation

DNA sequencing using the SOLiD technique identified an A to T transversion at base pair 36979851 in the Genbank genomic region NC_000072 for the Dgki gene on chromosome 6 (ATTCTTGCAG ->TTTCTTGCAG). Multiple transcripts of the Dgki gene are displayed on Ensembl and Vega. The mutation is located within intron 14 from the ATG exon, ten nucleotides to the previous exon. The Dgki gene contains 104 total exons using Genbank record NM_001081206.1. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).

Protein Function and Prediction

The Dgki gene encodes a 1071 amino acid diacylglycerol kinase (DGK). DGKs play a key role in cellular processes by regulating the intracellular concentration of the second messenger diacylglycerol (DAG). Human DGK-iota is predominantly expressed in the brain and retina. According to SMART analysis, the protein contains two DAG-binding C1 domains at residues 173-227, a DGK catalytic and accessory domain at residues 371-678, and two protein-interacting ANK repeats at residues 964-994 and 1006-1029. Mice homozygous for a knock-out allele are grossly normal and do not develop tumors when wounded or when exposed to phorbol ester.

Posted On

2011-03-10