Mutagenetix > Incidental Mutations

Incidental Mutation 'R4684:Dgki'

353509

Institutional Source

Beutler Lab

Gene Symbol

Dgki

Ensembl Gene

ENSMUSG00000038665

Gene Name

diacylglycerol kinase, iota

Synonyms

C130010K08Rik

Accession Numbers

Genbank: NM_001081206.1

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4684 (G1)

Quality Score

141

Status

Not validated

Chromosome

Chromosomal Location

36846022-37300184 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 37299846 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000047858 (fasta)

Gene Model

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

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

unknown
Transcript: ENSMUST00000090314
AA Change: C35S

SMART Domains

Protein: ENSMUSP00000087788
Gene: ENSMUSG00000038665
AA Change: C35S

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

unknown
Transcript: ENSMUST00000101532
AA Change: C35S

SMART Domains

Protein: ENSMUSP00000099071
Gene: ENSMUSG00000038665
AA Change: C35S

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

noncoding transcript
Transcript: ENSMUST00000136457

Predicted Effect

unknown
Transcript: ENSMUST00000138286
AA Change: C35S

SMART Domains

Protein: ENSMUSP00000138628
Gene: ENSMUSG00000038665
AA Change: C35S

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

unknown
Transcript: ENSMUST00000150300
AA Change: C35S

SMART Domains

Protein: ENSMUSP00000138457
Gene: ENSMUSG00000038665
AA Change: C35S

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: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.7%

Validation Efficiency

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310039H08Rik	T	C	17: 46,772,946	V45A	probably benign	Het
4921509C19Rik	A	G	2: 151,471,871	I629T	unknown	Het
4933402N03Rik	T	C	7: 131,138,684	R268G	probably damaging	Het
Abca13	A	T	11: 9,434,193	R3882*	probably null	Het
Adamts3	T	G	5: 89,703,007	T558P	probably damaging	Het
Ano2	A	G	6: 125,790,341	N214S	probably benign	Het
Arhgef4	A	T	1: 34,811,785		probably null	Het
Boc	C	T	16: 44,500,380	A306T	probably benign	Het
Capn10	T	C	1: 92,943,781	F367S	probably damaging	Het
Ccdc6	T	C	10: 70,189,256		probably benign	Het
Cobll1	G	T	2: 65,099,028	S688R	possibly damaging	Het
Cpxm2	G	T	7: 132,049,038	P631Q	possibly damaging	Het
Cyp2c68	A	G	19: 39,699,335	V406A	possibly damaging	Het
Cyp4a30b	T	A	4: 115,455,003	Y118N	probably damaging	Het
Disp2	A	G	2: 118,792,756	N1323S	probably damaging	Het
Dock1	T	A	7: 134,724,409	Y42*	probably null	Het
Eps8l1	C	A	7: 4,473,945	P471Q	probably damaging	Het
Fam20a	A	C	11: 109,721,687	L10R	unknown	Het
Fpr-rs4	T	A	17: 18,022,184	I151K	probably damaging	Het
Gga1	C	A	15: 78,885,309	P161T	probably damaging	Het
Gm8909	A	T	17: 36,165,858	H241Q	possibly damaging	Het
Gm9923	T	A	10: 72,309,476	Y52*	probably null	Het
Gucy2g	A	G	19: 55,206,256	F910L	probably damaging	Het
Helz	T	C	11: 107,649,145	V315A	probably damaging	Het
Hk2	T	C	6: 82,739,648	Y301C	probably damaging	Het
Htt	C	T	5: 34,852,765	P1521S	probably damaging	Het
Iah1	T	C	12: 21,316,433	M1T	probably null	Het
Ik	T	C	18: 36,752,414	S287P	probably damaging	Het
Itga1	T	A	13: 115,049,370	D32V	probably damaging	Het
Itpr2	A	G	6: 146,373,173	F837S	probably damaging	Het
Klk14	A	G	7: 43,691,968	I15V	probably benign	Het
Kng2	T	C	16: 22,987,641	I603V	possibly damaging	Het
Lama1	T	C	17: 67,773,778	I1267T	possibly damaging	Het
Lrp1b	A	C	2: 40,922,304	L2430V	probably benign	Het
Lrrn3	T	G	12: 41,454,244	K25Q	possibly damaging	Het
Lta4h	T	A	10: 93,468,816	N233K	probably benign	Het
Mapk13	T	C	17: 28,770,049	I53T	probably damaging	Het
Mdn1	T	C	4: 32,666,430	F123L	probably damaging	Het
Mettl7b	G	T	10: 128,960,702	C79*	probably null	Het
Myh4	G	C	11: 67,245,811	D472H	probably damaging	Het
Nipa2	A	T	7: 55,935,826	N121K	probably benign	Het
Nostrin	C	T	2: 69,183,924	T408M	probably benign	Het
Olfr347	A	G	2: 36,734,674	M118V	probably damaging	Het
Olfr725	T	C	14: 50,034,830	D191G	probably damaging	Het
Oosp2	C	T	19: 11,649,653	R102H	probably damaging	Het
Osgin2	T	A	4: 16,001,946	I202L	probably benign	Het
Pbld2	C	A	10: 63,057,697	R271S	probably damaging	Het
Pex6	C	T	17: 46,712,101	T201I	probably benign	Het
Pilra	T	C	5: 137,835,515	I96M	probably damaging	Het
Pllp	T	A	8: 94,677,278	D47V	possibly damaging	Het
Plxna2	A	G	1: 194,762,594	S765G	probably benign	Het
Prkca	A	T	11: 107,961,608	Y100N	probably damaging	Het
Prkg1	T	A	19: 31,664,179	K35*	probably null	Het
Psmc2	A	G	5: 21,803,265	D389G	possibly damaging	Het
Rnf213	A	G	11: 119,441,125	T2387A	probably damaging	Het
Ros1	T	C	10: 52,129,096	N914S	probably damaging	Het
Ruvbl1	C	A	6: 88,491,599	T367K	probably benign	Het
Scube2	C	T	7: 109,810,713	R525H	probably damaging	Het
Sec14l4	T	C	11: 4,035,200		probably null	Het
Secisbp2l	T	C	2: 125,745,942	D751G	probably damaging	Het
Setd3	T	C	12: 108,108,690	D402G	probably benign	Het
Slc15a2	T	A	16: 36,757,849	K359N	probably damaging	Het
Slc25a21	A	G	12: 57,196,936	S2P	probably benign	Het
Slfn8	A	T	11: 83,017,506	H70Q	probably benign	Het
Spef2	T	C	15: 9,647,490	I944V	probably benign	Het
Spg11	A	G	2: 122,065,076	F1887S	probably damaging	Het
Sptbn4	T	C	7: 27,364,419	E879G	probably damaging	Het
Sptbn4	A	T	7: 27,366,735	D649E	possibly damaging	Het
Stx5a	C	A	19: 8,743,361	R121S	probably damaging	Het
Tbcd	T	C	11: 121,493,771	L26P	probably damaging	Het
Tecpr1	T	C	5: 144,207,437	D649G	probably benign	Het
Tfam	A	G	10: 71,237,847	S32P	probably benign	Het
Trmt44	C	T	5: 35,558,043	R642H	probably benign	Het
Trpm3	G	A	19: 22,987,781	A1547T	probably benign	Het
Ttll6	T	C	11: 96,153,177	V519A	probably benign	Het
Umodl1	T	C	17: 30,998,114	F1107L	probably benign	Het
Usp5	A	T	6: 124,817,956	V677E	probably damaging	Het
Utp20	A	T	10: 88,807,445	L605*	probably null	Het
Utrn	T	C	10: 12,745,240	D229G	probably damaging	Het
Uty	A	T	Y: 1,176,502	L178*	probably null	Het
Vmn2r88	A	T	14: 51,413,334	D168V	possibly damaging	Het
Vps13b	T	C	15: 35,646,178	V1476A	probably damaging	Het
Vps13b	C	T	15: 35,841,341	H2506Y	probably benign	Het
Vps13b	C	A	15: 35,879,821	T3014K	probably benign	Het
Vps37c	T	C	19: 10,712,768	V198A	probably benign	Het
Zfc3h1	T	C	10: 115,423,385	Y1621H	probably benign	Het
Zfp251	T	C	15: 76,854,407	D162G	possibly damaging	Het
Zfp292	T	C	4: 34,807,078	T1994A	probably benign	Het
Zfp791	A	G	8: 85,110,930	Y102H	probably benign	Het

Other mutations in Dgki

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00923:Dgki	APN	6	36862456	missense	probably benign	0.00
IGL00951:Dgki	APN	6	37000159	missense	probably damaging	0.97
IGL01087:Dgki	APN	6	37012911	missense	probably damaging	1.00
IGL01396:Dgki	APN	6	37000090	missense	probably damaging	1.00
IGL02113:Dgki	APN	6	36913625	splice site	probably benign
IGL02174:Dgki	APN	6	37032921	missense	probably damaging	1.00
IGL02215:Dgki	APN	6	37016675	missense	probably damaging	1.00
IGL02353:Dgki	APN	6	36847389	missense	probably damaging	1.00
IGL02360:Dgki	APN	6	36847389	missense	probably damaging	1.00
IGL02662:Dgki	APN	6	36862486	splice site	probably benign
IGL02891:Dgki	APN	6	36913741	missense	probably benign	0.15
IGL03040:Dgki	APN	6	37149664	splice site	probably benign
IGL03064:Dgki	APN	6	37149664	splice site	probably benign
IGL03283:Dgki	APN	6	36937311	splice site	probably benign
IGL03349:Dgki	APN	6	37097627	critical splice acceptor site	probably null
H8477:Dgki	UTSW	6	37029851	splice site	probably benign
PIT4151001:Dgki	UTSW	6	37063981	missense	probably benign	0.00
R0392:Dgki	UTSW	6	37000178	missense	probably damaging	1.00
R0630:Dgki	UTSW	6	37000198	missense	probably damaging	1.00
R0718:Dgki	UTSW	6	37012896	missense	probably damaging	1.00
R1420:Dgki	UTSW	6	37050269	intron	probably null
R1546:Dgki	UTSW	6	37050203	missense	probably damaging	1.00
R1634:Dgki	UTSW	6	36915490	missense	probably benign
R1639:Dgki	UTSW	6	36937364	missense	probably damaging	1.00
R1738:Dgki	UTSW	6	37057432	missense	possibly damaging	0.93
R1750:Dgki	UTSW	6	36916434	missense	probably damaging	0.96
R1808:Dgki	UTSW	6	37149574	missense	possibly damaging	0.84
R1834:Dgki	UTSW	6	37034701	splice site	probably benign
R2001:Dgki	UTSW	6	36865801	missense	possibly damaging	0.94
R2047:Dgki	UTSW	6	36913646	missense	possibly damaging	0.69
R2413:Dgki	UTSW	6	36847473	missense	possibly damaging	0.49
R3034:Dgki	UTSW	6	37087670	missense	probably damaging	1.00
R4493:Dgki	UTSW	6	36974861	intron	probably benign
R4727:Dgki	UTSW	6	37299813	unclassified	probably benign
R5104:Dgki	UTSW	6	37149574	missense	possibly damaging	0.84
R5756:Dgki	UTSW	6	36937058	intron	probably benign
R6946:Dgki	UTSW	6	37299636	nonsense	probably null
X0066:Dgki	UTSW	6	37063997	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAGACCTGCTTCCGGAAAG -3'
(R):5'- AGTTCAGTCCCGGCTTTTGC -3'

Sequencing Primer
(F):5'- GACCTGCTTCCGGAAAGTTAAGTC -3'
(R):5'- GGCTTTTGCTCTGGATTTAGAAAAAG -3'

Posted On

2015-10-21