Mutagenetix > Incidental Mutation

Incidental Mutation 'R8880:Dgki'

716010

Institutional Source

Beutler Lab

Gene Symbol

Dgki

Ensembl Gene

ENSMUSG00000038665

Gene Name

diacylglycerol kinase, iota

Synonyms

C130010K08Rik

MMRRC Submission

068748-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8880 (G1)

Quality Score

197.009

Status

Validated

Chromosome

Chromosomal Location

36822957-37277119 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

C to T at 37011652 bp (GRCm39)

Zygosity

Heterozygous

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

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (82/82)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	C	T	14: 32,382,837 (GRCm39)	V1043I	probably benign	Het
5031439G07Rik	T	A	15: 84,839,867 (GRCm39)	I176F	possibly damaging	Het
Adam6b	T	A	12: 113,454,764 (GRCm39)	M527K	probably benign	Het
Atp10b	C	T	11: 43,106,811 (GRCm39)	T615I	probably benign	Het
Atxn2	A	G	5: 121,948,973 (GRCm39)	T1117A	probably benign	Het
AU021092	A	T	16: 5,032,585 (GRCm39)		probably benign	Het
Bcam	C	T	7: 19,492,671 (GRCm39)	V505M	probably damaging	Het
Bco2	A	T	9: 50,461,962 (GRCm39)	L14Q	probably damaging	Het
Caps2	T	G	10: 112,030,824 (GRCm39)		probably benign	Het
Cblb	T	C	16: 51,986,368 (GRCm39)	V537A	probably benign	Het
Ccdc141	A	T	2: 76,845,556 (GRCm39)	N1170K	probably benign	Het
Ccdc154	T	G	17: 25,389,129 (GRCm39)	D442E	probably benign	Het
Col24a1	A	G	3: 145,019,798 (GRCm39)	I60V	probably null	Het
Crb1	A	T	1: 139,164,886 (GRCm39)	N1140K	probably benign	Het
Ddhd1	G	A	14: 45,846,430 (GRCm39)	P621S	probably benign	Het
Ddx46	A	T	13: 55,814,033 (GRCm39)	N663I	probably benign	Het
Disp2	T	C	2: 118,621,239 (GRCm39)	F657S	probably damaging	Het
Dnajc2	T	C	5: 21,973,670 (GRCm39)	E262G	probably damaging	Het
Dvl2	T	A	11: 69,898,761 (GRCm39)	L408Q	possibly damaging	Het
Egflam	T	C	15: 7,267,249 (GRCm39)	D712G	probably damaging	Het
Entpd7	A	G	19: 43,692,846 (GRCm39)		probably benign	Het
Epb41	A	T	4: 131,695,104 (GRCm39)	W28R		Het
Fabp9	C	T	3: 10,262,231 (GRCm39)		probably benign	Het
Fkbp15	T	A	4: 62,232,602 (GRCm39)	M657L	probably benign	Het
Gfy	A	C	7: 44,827,784 (GRCm39)	L104R	possibly damaging	Het
Gm4884	A	T	7: 40,693,911 (GRCm39)	I627F	probably damaging	Het
Gm9195	A	T	14: 72,691,320 (GRCm39)	S1643T	unknown	Het
Gpsm2	C	T	3: 108,610,335 (GRCm39)	A42T	possibly damaging	Het
Gvin2	T	C	7: 105,551,120 (GRCm39)	K644R	probably benign	Het
Gys2	T	C	6: 142,402,113 (GRCm39)	Y242C	probably damaging	Het
Hbs1l	A	G	10: 21,185,868 (GRCm39)	N430S	probably damaging	Het
Idh3b	A	T	2: 130,126,004 (GRCm39)		probably benign	Het
Igdcc3	C	T	9: 65,088,550 (GRCm39)	A384V	probably benign	Het
Ighv3-4	C	T	12: 114,217,535 (GRCm39)	D19N	possibly damaging	Het
Igkv19-93	G	T	6: 68,713,494 (GRCm39)	A45E	probably damaging	Het
Il10ra	G	A	9: 45,175,631 (GRCm39)	T230M	probably damaging	Het
Kalrn	A	G	16: 34,038,305 (GRCm39)	V1009A	probably damaging	Het
Kcnma1	G	T	14: 23,417,718 (GRCm39)	A837D	probably damaging	Het
Kif7	T	A	7: 79,348,650 (GRCm39)	R1231S	probably benign	Het
Klhdc1	A	G	12: 69,298,817 (GRCm39)	D134G	possibly damaging	Het
Klk14	T	C	7: 43,343,459 (GRCm39)	V97A	probably damaging	Het
Lamb3	G	A	1: 193,003,363 (GRCm39)	V101M	possibly damaging	Het
Lrrc7	C	T	3: 157,867,381 (GRCm39)	E787K	probably damaging	Het
Mep1a	A	G	17: 43,808,808 (GRCm39)	I94T	possibly damaging	Het
Mtrex	T	A	13: 113,051,034 (GRCm39)	K180N	probably benign	Het
Ncr1	C	T	7: 4,341,336 (GRCm39)	S109L	probably benign	Het
Nell2	A	T	15: 95,129,329 (GRCm39)	M678K	probably damaging	Het
Or12j5	C	A	7: 140,084,172 (GRCm39)	A67S	probably benign	Het
Or14c42-ps1	G	A	7: 86,211,549 (GRCm39)	C203Y	unknown	Het
Or2m13	A	T	16: 19,226,396 (GRCm39)	Y123*	probably null	Het
Or8g19	T	A	9: 39,055,899 (GRCm39)	F168I	probably damaging	Het
Pnpla1	A	C	17: 29,098,438 (GRCm39)	Y248S	probably damaging	Het
Pramel27	T	C	4: 143,573,140 (GRCm39)		probably null	Het
Prdm10	T	C	9: 31,264,742 (GRCm39)	F726L	probably damaging	Het
Prdm16	T	C	4: 154,613,370 (GRCm39)	N19S	probably damaging	Het
Prss44	A	G	9: 110,643,263 (GRCm39)	R53G	probably benign	Het
Rasgrp1	C	T	2: 117,115,425 (GRCm39)	R721Q	probably benign	Het
Rassf1	A	T	9: 107,434,740 (GRCm39)	N149I	probably damaging	Het
Rbp3	A	C	14: 33,678,796 (GRCm39)	T915P	probably benign	Het
Reg3g	A	T	6: 78,444,788 (GRCm39)	D63E	probably benign	Het
Relch	T	C	1: 105,592,220 (GRCm39)	Y130H	probably damaging	Het
Rgs3	C	A	4: 62,543,373 (GRCm39)	T236K	probably damaging	Het
Rin2	T	C	2: 145,690,772 (GRCm39)	F147L	probably damaging	Het
Slc17a1	T	C	13: 24,062,732 (GRCm39)	I266T	probably benign	Het
Slc34a3	A	T	2: 25,119,267 (GRCm39)	N534K	probably benign	Het
Smc2	A	T	4: 52,462,856 (GRCm39)	E615D	probably benign	Het
Snx16	A	C	3: 10,484,193 (GRCm39)	D343E	probably benign	Het
St18	T	A	1: 6,865,619 (GRCm39)	Y32*	probably null	Het
Svep1	C	T	4: 58,064,204 (GRCm39)	V3260I	possibly damaging	Het
Synm	C	T	7: 67,386,456 (GRCm39)	R402H	possibly damaging	Het
Tacc2	A	T	7: 130,318,564 (GRCm39)	E67V	possibly damaging	Het
Tarbp1	G	T	8: 127,198,044 (GRCm39)	N302K	probably damaging	Het
Tenm2	A	G	11: 35,942,788 (GRCm39)	S1294P	probably damaging	Het
Ttk	T	C	9: 83,751,304 (GRCm39)	S794P	probably damaging	Het
Ulk1	G	A	5: 110,934,288 (GRCm39)	A999V	probably damaging	Het
Upf2	A	G	2: 6,030,983 (GRCm39)	I808V	unknown	Het
Ush2a	A	G	1: 188,460,733 (GRCm39)	T2665A	probably benign	Het
Usp8	A	G	2: 126,590,229 (GRCm39)	K672E	probably damaging	Het
Vmn2r105	T	A	17: 20,429,229 (GRCm39)	I616F	probably damaging	Het
Vps33a	T	C	5: 123,707,506 (GRCm39)	M154V	probably damaging	Het
Wdfy4	A	C	14: 32,795,492 (GRCm39)	Y2083*	probably null	Het
Zc3hav1	A	G	6: 38,288,212 (GRCm39)	F875L	probably benign	Het
Zfp979	T	C	4: 147,697,836 (GRCm39)	N291S	probably benign	Het
Zp2	T	A	7: 119,742,835 (GRCm39)	Y99F	possibly damaging	Het

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
H8477:Dgki	UTSW	6	37,006,786 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- ACAGAGTGATCTGCAGGTCTG -3'
(R):5'- GCAGATTTATGAGTCCCCATTTG -3'

Sequencing Primer
(F):5'- GGCTTGCTCCTCTATGCTAAGG -3'
(R):5'- CTGTTGTCTGACCACTGTA -3'

Posted On

2022-06-22