Mutagenetix > Incidental Mutation

Incidental Mutation 'R2001:Dgki'

225925

Institutional Source

Beutler Lab

Gene Symbol

Dgki

Ensembl Gene

ENSMUSG00000038665

Gene Name

diacylglycerol kinase, iota

Synonyms

C130010K08Rik

MMRRC Submission

040011-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2001 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36822957-37277119 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36842736 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 923 (D923G)

Ref Sequence

ENSEMBL: ENSMUSP00000087788 (fasta)

Gene Model

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

AlphaFold

D3YWQ0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042075
AA Change: D772G

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000047858
Gene: ENSMUSG00000038665
AA Change: D772G

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

possibly damaging
Transcript: ENSMUST00000090314
AA Change: D923G

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000087788
Gene: ENSMUSG00000038665
AA Change: D923G

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

possibly damaging
Transcript: ENSMUST00000101532
AA Change: D944G

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099071
Gene: ENSMUSG00000038665
AA Change: D944G

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.6%

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	C	2: 68,571,800 (GRCm39)	S559P	probably benign	Het
A430005L14Rik	T	A	4: 154,044,314 (GRCm39)	C42S	probably damaging	Het
Abca13	A	T	11: 9,223,967 (GRCm39)	T449S	probably benign	Het
Acvr1c	T	A	2: 58,205,987 (GRCm39)	Q41L	probably benign	Het
Adamts13	C	T	2: 26,864,002 (GRCm39)	P60L	probably benign	Het
Adamts20	T	C	15: 94,245,599 (GRCm39)	T568A	possibly damaging	Het
Ago1	T	C	4: 126,348,187 (GRCm39)	I44V	probably null	Het
Agtpbp1	TGAAGATGCATCTTGAGAAGA	TGAAGA	13: 59,623,617 (GRCm39)		probably null	Het
Ankrd28	A	T	14: 31,467,293 (GRCm39)	V39E	possibly damaging	Het
Apaf1	A	G	10: 90,897,676 (GRCm39)	V269A	possibly damaging	Het
Astn1	A	G	1: 158,348,091 (GRCm39)	N506D	probably damaging	Het
BC051019	G	A	7: 109,319,758 (GRCm39)	Q102*	probably null	Het
Bpifb5	A	G	2: 154,075,199 (GRCm39)	T376A	possibly damaging	Het
Ccdc121rt1	G	T	1: 181,338,551 (GRCm39)	Q134K	probably benign	Het
Ccl20	ATT	ATTT	1: 83,095,576 (GRCm39)		probably null	Het
Ccl6	G	T	11: 83,480,163 (GRCm39)	P68T	possibly damaging	Het
Cd300ld	A	T	11: 114,878,156 (GRCm39)	F119I	probably benign	Het
Cdk2ap2	A	G	19: 4,147,903 (GRCm39)	M57V	possibly damaging	Het
Cemip2	A	G	19: 21,779,351 (GRCm39)	D387G	probably benign	Het
Chkb	C	T	15: 89,312,969 (GRCm39)	G36E	probably damaging	Het
Col11a1	A	G	3: 113,958,942 (GRCm39)		probably null	Het
Ctla2b	T	C	13: 61,043,881 (GRCm39)	Y120C	probably damaging	Het
Ctnnd1	T	C	2: 84,450,704 (GRCm39)	N172S	probably benign	Het
Cyp2a22	G	A	7: 26,634,197 (GRCm39)	P319L	probably damaging	Het
Dcaf12	A	C	4: 41,302,804 (GRCm39)	V117G	probably damaging	Het
Ddx6	A	G	9: 44,518,831 (GRCm39)	T48A	probably benign	Het
Dhx37	G	T	5: 125,504,528 (GRCm39)	T345K	probably damaging	Het
Dhx9	A	T	1: 153,331,857 (GRCm39)	Y1370*	probably null	Het
Dnah7b	T	C	1: 46,181,247 (GRCm39)	S1045P	possibly damaging	Het
Dnmbp	G	C	19: 43,838,612 (GRCm39)	T1071S	possibly damaging	Het
Dspp	T	A	5: 104,326,425 (GRCm39)	S929R	unknown	Het
Dst	A	T	1: 34,223,144 (GRCm39)	E1625D	probably damaging	Het
Egflam	T	A	15: 7,272,048 (GRCm39)	H630L	probably benign	Het
Elane	T	C	10: 79,723,593 (GRCm39)	V186A	possibly damaging	Het
Fam209	C	A	2: 172,314,689 (GRCm39)	N59K	probably benign	Het
Gbe1	A	G	16: 70,325,814 (GRCm39)	E617G	probably damaging	Het
Get3	T	C	8: 85,751,789 (GRCm39)	S36G	probably damaging	Het
Gfra1	A	G	19: 58,288,707 (GRCm39)	L246P	probably damaging	Het
Gria2	T	C	3: 80,618,112 (GRCm39)	T308A	probably benign	Het
Grip2	A	T	6: 91,756,831 (GRCm39)	V540D	probably benign	Het
Hhipl1	A	T	12: 108,288,118 (GRCm39)	I575F	possibly damaging	Het
Hmcn1	T	A	1: 150,614,364 (GRCm39)	E1347D	possibly damaging	Het
Itga2b	C	A	11: 102,358,165 (GRCm39)	A187S	probably benign	Het
Kalrn	C	A	16: 33,848,415 (GRCm39)	R469M	probably damaging	Het
Kif23	A	T	9: 61,834,666 (GRCm39)	C426*	probably null	Het
Lck	T	C	4: 129,442,730 (GRCm39)	N475S	probably benign	Het
Leng8	A	G	7: 4,148,073 (GRCm39)	N642S	probably damaging	Het
Lingo4	T	A	3: 94,310,382 (GRCm39)	I440N	probably damaging	Het
Lrrc4	A	G	6: 28,830,904 (GRCm39)	F237S	probably damaging	Het
Magel2	G	A	7: 62,028,844 (GRCm39)	V583I	unknown	Het
Naip2	A	T	13: 100,281,096 (GRCm39)	I1316N	probably damaging	Het
Naip6	C	T	13: 100,437,237 (GRCm39)	G429S	probably benign	Het
Noct	C	T	3: 51,155,465 (GRCm39)	R78C	probably damaging	Het
Npbwr1	A	G	1: 5,987,394 (GRCm39)	V40A	possibly damaging	Het
Nsd2	A	G	5: 34,000,746 (GRCm39)	N88D	probably damaging	Het
Or1e29	T	A	11: 73,667,539 (GRCm39)	I205F	probably benign	Het
Or5ap2	T	A	2: 85,680,744 (GRCm39)	V316E	probably benign	Het
Or6c210	T	A	10: 129,496,290 (GRCm39)	I205N	probably benign	Het
Or8k28	T	C	2: 86,285,817 (GRCm39)	H266R	probably benign	Het
Pak5	T	A	2: 135,958,557 (GRCm39)	H177L	probably benign	Het
Pard3	C	T	8: 127,791,097 (GRCm39)		probably null	Het
Pde4c	A	G	8: 71,200,007 (GRCm39)		probably null	Het
Pde6h	T	A	6: 136,940,203 (GRCm39)	I63N	probably damaging	Het
Phldb2	T	C	16: 45,594,558 (GRCm39)	K916E	possibly damaging	Het
Ppig	T	C	2: 69,571,988 (GRCm39)	S236P	unknown	Het
Ptprd	T	C	4: 75,872,359 (GRCm39)	Y1370C	probably damaging	Het
Pzp	T	C	6: 128,493,083 (GRCm39)	T352A	probably benign	Het
Rab3gap1	A	G	1: 127,831,456 (GRCm39)	Y177C	possibly damaging	Het
Rasgef1a	G	A	6: 118,066,157 (GRCm39)	V457M	probably benign	Het
Scel	A	T	14: 103,848,226 (GRCm39)	T616S	possibly damaging	Het
Sel1l	A	T	12: 91,793,324 (GRCm39)	Y228*	probably null	Het
Sgms1	A	G	19: 32,137,083 (GRCm39)	V161A	possibly damaging	Het
Slfnl1	T	C	4: 120,390,424 (GRCm39)	L25P	probably benign	Het
Smad5	A	G	13: 56,885,187 (GRCm39)	T432A	probably damaging	Het
Sohlh2	T	C	3: 55,099,762 (GRCm39)		probably null	Het
Sphkap	A	T	1: 83,254,383 (GRCm39)	M835K	probably damaging	Het
Sqor	A	C	2: 122,640,018 (GRCm39)	T174P	probably damaging	Het
Stkld1	T	C	2: 26,842,759 (GRCm39)	V577A	probably damaging	Het
Sulf2	T	A	2: 165,922,773 (GRCm39)	E652D	probably benign	Het
Sycp2	T	A	2: 178,019,848 (GRCm39)	Q556L	probably benign	Het
Syk	A	G	13: 52,765,274 (GRCm39)	T134A	probably benign	Het
Tas2r122	T	A	6: 132,688,585 (GRCm39)	I103F	possibly damaging	Het
Tex10	A	G	4: 48,451,940 (GRCm39)	W729R	probably damaging	Het
Tex261	G	T	6: 83,750,713 (GRCm39)	P95T	probably damaging	Het
Tm2d2	T	C	8: 25,507,523 (GRCm39)	S47P	probably benign	Het
Tmem95	A	G	11: 69,767,817 (GRCm39)	S128P	probably damaging	Het
Tnxb	G	A	17: 34,911,553 (GRCm39)	A1619T	possibly damaging	Het
Trappc9	A	G	15: 72,929,885 (GRCm39)	I157T	probably damaging	Het
Unc13c	T	A	9: 73,390,897 (GRCm39)		probably null	Het
Upb1	A	T	10: 75,265,803 (GRCm39)	Y210F	probably damaging	Het
Urb1	T	C	16: 90,559,232 (GRCm39)	M1684V	probably benign	Het
Wnk2	G	A	13: 49,232,158 (GRCm39)	P727S	possibly damaging	Het
Zfp1004	T	A	2: 150,034,867 (GRCm39)	M396K	probably benign	Het
Zfp551	A	T	7: 12,150,276 (GRCm39)	S378T	probably damaging	Het
Zfp598	T	C	17: 24,888,898 (GRCm39)	V56A	possibly damaging	Het
Zfp945	C	T	17: 23,076,223 (GRCm39)		probably null	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
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

Predicted Primers

PCR Primer
(F):5'- TCCAGGGAATCTACCATACTCC -3'
(R):5'- GCCAGTGCTTGTAATAAGGAAG -3'

Sequencing Primer
(F):5'- AGGGAATCTACCATACTCCTTTGCTG -3'
(R):5'- CAGTGCTTGTAATAAGGAAGGGCTTG -3'

Posted On

2014-08-25