Mutagenetix > Incidental Mutation

Incidental Mutation 'R5481:Dgkq'

457929

Institutional Source

Beutler Lab

Gene Symbol

Dgkq

Ensembl Gene

ENSMUSG00000004815

Gene Name

diacylglycerol kinase, theta

Synonyms

110kDa, DAGK7, Dagk4, Dgkd, Dgk theta

MMRRC Submission

043042-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5481 (G1)

Quality Score

212

Status

Not validated

Chromosome

Chromosomal Location

108646693-108669672 bp(-) (GRCm38)

Type of Mutation

splice site (4780 bp from exon)

DNA Base Change (assembly)

A to G at 108648810 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143596 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053913] [ENSMUST00000063272] [ENSMUST00000078323] [ENSMUST00000120327] [ENSMUST00000132179] [ENSMUST00000132708] [ENSMUST00000146207] [ENSMUST00000153238]

AlphaFold

Q6P5E8

Predicted Effect

probably benign
Transcript: ENSMUST00000053913
AA Change: V902A

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000057859
Gene: ENSMUSG00000004815
AA Change: V902A

Domain	Start	End	E-Value	Type
C1	55	102	3.22e-14	SMART
C1	114	162	1.73e-2	SMART
C1	178	228	1.58e-13	SMART
low complexity region	267	275	N/A	INTRINSIC
RA	387	486	2.08e-20	SMART
DAGKc	580	707	4.79e-63	SMART
DAGKa	733	885	7e-88	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000063272

SMART Domains

Protein: ENSMUSP00000068607
Gene: ENSMUSG00000013495

Domain	Start	End	E-Value	Type
Pfam:DUF1211	31	121	7.3e-28	PFAM
transmembrane domain	135	157	N/A	INTRINSIC
transmembrane domain	195	217	N/A	INTRINSIC
Pfam:DUF1211	256	353	4.4e-36	PFAM
transmembrane domain	373	395	N/A	INTRINSIC
transmembrane domain	415	437	N/A	INTRINSIC
transmembrane domain	450	472	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000078323

SMART Domains

Protein: ENSMUSP00000077437
Gene: ENSMUSG00000013495

Domain	Start	End	E-Value	Type
Pfam:DUF1211	31	121	7.3e-28	PFAM
transmembrane domain	135	157	N/A	INTRINSIC
transmembrane domain	195	217	N/A	INTRINSIC
Pfam:DUF1211	256	353	4.4e-36	PFAM
transmembrane domain	373	395	N/A	INTRINSIC
transmembrane domain	415	437	N/A	INTRINSIC
transmembrane domain	450	472	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000120327

SMART Domains

Protein: ENSMUSP00000112780
Gene: ENSMUSG00000013495

Domain	Start	End	E-Value	Type
Pfam:DUF1211	32	121	1.5e-22	PFAM
transmembrane domain	135	157	N/A	INTRINSIC
transmembrane domain	195	217	N/A	INTRINSIC
Pfam:DUF1211	257	353	9.5e-27	PFAM
transmembrane domain	373	395	N/A	INTRINSIC
transmembrane domain	415	437	N/A	INTRINSIC
transmembrane domain	450	472	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123669

Predicted Effect

probably benign
Transcript: ENSMUST00000132179

SMART Domains

Protein: ENSMUSP00000118466
Gene: ENSMUSG00000004815

Domain	Start	End	E-Value	Type
C1	55	102	3.22e-14	SMART
Blast:C1	114	144	1e-12	BLAST
low complexity region	156	169	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000132708

SMART Domains

Protein: ENSMUSP00000122837
Gene: ENSMUSG00000004815

Domain	Start	End	E-Value	Type
Blast:C1	26	56	2e-13	BLAST
low complexity region	68	81	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139169

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144624

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145917

Predicted Effect

probably null
Transcript: ENSMUST00000146207

SMART Domains

Protein: ENSMUSP00000143596
Gene: ENSMUSG00000013495

Domain	Start	End	E-Value	Type
Pfam:DUF1211	32	121	5.4e-23	PFAM
transmembrane domain	137	159	N/A	INTRINSIC
transmembrane domain	185	207	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000153238

SMART Domains

Protein: ENSMUSP00000118065
Gene: ENSMUSG00000004815

Domain	Start	End	E-Value	Type
C1	55	102	3.22e-14	SMART
Blast:C1	114	144	1e-12	BLAST
low complexity region	156	169	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153365

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156964

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198346

Coding Region Coverage

1x: 99.1%
3x: 97.6%
10x: 95.1%
20x: 90.0%

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 contains three cysteine-rich domains, a proline-rich region, and a pleckstrin homology domain with an overlapping Ras-associating domain. It is localized in the speckle domains of the nucleus, and mediates the regeneration of phosphatidylinositol (PI) from diacylglycerol in the PI-cycle during cell signal transduction. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522H14Rik	A	G	4: 109,505,562	S187P	probably damaging	Het
Aass	C	A	6: 23,113,476	V282L	probably benign	Het
Adh6a	G	T	3: 138,325,958	V204F	probably damaging	Het
Aspm	A	G	1: 139,457,061	K148E	possibly damaging	Het
Atp12a	A	T	14: 56,373,389	D330V	possibly damaging	Het
Barhl1	A	G	2: 28,915,340	Y114H	probably damaging	Het
BC106179	T	A	16: 23,224,168		probably benign	Het
Cabin1	A	G	10: 75,735,066	L792P	probably benign	Het
Calcoco2	A	G	11: 96,107,543	V18A	probably damaging	Het
Chpf2	A	T	5: 24,589,342	H170L	probably damaging	Het
Chrna1	T	A	2: 73,566,926	I340F	possibly damaging	Het
Ckap5	A	T	2: 91,572,447	I690F	possibly damaging	Het
Col10a1	A	G	10: 34,395,664	H544R	probably benign	Het
Cyp2b19	A	C	7: 26,766,821	T350P	probably damaging	Het
Dnah1	A	G	14: 31,308,871	V443A	possibly damaging	Het
Erbb3	T	C	10: 128,572,480	D855G	probably damaging	Het
Fam3c	T	C	6: 22,321,358	D138G	probably benign	Het
Fen1	A	G	19: 10,200,658	C141R	probably damaging	Het
Flnc	G	A	6: 29,441,217	G390D	probably damaging	Het
Fnip1	C	A	11: 54,502,644	D635E	probably benign	Het
Fry	A	T	5: 150,260,319	L17F	probably benign	Het
Fsip2	T	C	2: 82,979,886	I2183T	probably benign	Het
Gfpt1	T	A	6: 87,050,969	I19N	probably damaging	Het
Gm9774	A	G	3: 92,429,351	S15P	possibly damaging	Het
Hus1b	T	C	13: 30,946,959	D239G	probably benign	Het
Kif1a	T	C	1: 93,060,244	K546R	probably benign	Het
Kmt2d	A	G	15: 98,862,005	V1124A	unknown	Het
Krtap16-1	A	G	11: 99,985,327	I417T	probably damaging	Het
Manba	A	T	3: 135,524,556	N297Y	possibly damaging	Het
Mblac1	A	G	5: 138,194,816	D140G	probably damaging	Het
Mlh1	T	C	9: 111,229,837		probably null	Het
Morc1	T	A	16: 48,561,485		probably null	Het
Morc3	C	A	16: 93,862,655	P449Q	probably damaging	Het
Mtr	T	C	13: 12,188,155		probably null	Het
Mylk	T	A	16: 34,921,604	C829S	probably benign	Het
Myo1d	A	G	11: 80,663,095	I520T	possibly damaging	Het
Ncam2	C	T	16: 81,434,878	R77*	probably null	Het
Nos1	A	T	5: 117,867,754	I180F	probably benign	Het
Ntsr1	C	T	2: 180,541,520	T341M	possibly damaging	Het
Olfr916	A	T	9: 38,657,620	F257L	probably benign	Het
P2rx7	A	G	5: 122,680,820	D435G	possibly damaging	Het
Peli2	C	A	14: 48,252,633	N136K	probably damaging	Het
Pigt	C	A	2: 164,506,422	P429H	probably damaging	Het
Pik3r2	T	C	8: 70,769,764	I515V	probably benign	Het
Pkhd1l1	A	G	15: 44,558,646	Y3104C	probably damaging	Het
Ppp1r16a	A	C	15: 76,691,021	E43A	probably damaging	Het
Ptpn18	T	C	1: 34,471,663	L260P	possibly damaging	Het
Scaf11	A	T	15: 96,420,617	S355R	probably damaging	Het
Sema4a	A	T	3: 88,453,040	Y77*	probably null	Het
Serpinb9b	T	C	13: 33,038,093	V230A	possibly damaging	Het
Sfswap	T	A	5: 129,514,818	S300T	probably damaging	Het
Slc22a30	T	C	19: 8,336,837	N495S	probably benign	Het
Srcap	G	A	7: 127,532,197	G836D	probably damaging	Het
Stard4	A	C	18: 33,205,245	C137W	probably benign	Het
Stat6	A	G	10: 127,647,826		probably null	Het
Steap3	T	C	1: 120,241,724	D243G	probably benign	Het
Taf1c	A	G	8: 119,599,240	S628P	probably damaging	Het
Unkl	C	T	17: 25,201,172	Q13*	probably null	Het
Usp38	A	G	8: 80,993,323	S426P	possibly damaging	Het
Vmn2r8	T	C	5: 108,801,770	T404A	probably benign	Het
Washc1	T	C	17: 66,118,865	V425A	probably benign	Het
Zfyve9	A	G	4: 108,644,349	I590T	probably damaging	Het

Other mutations in Dgkq

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00491:Dgkq	APN	5	108654582	missense	possibly damaging	0.72
IGL02364:Dgkq	APN	5	108656444	missense	probably benign	0.05
IGL02966:Dgkq	APN	5	108656421	splice site	probably null
IGL03297:Dgkq	APN	5	108650274	missense	probably damaging	1.00
R0179:Dgkq	UTSW	5	108658200	splice site	probably benign
R0194:Dgkq	UTSW	5	108654644	intron	probably benign
R0332:Dgkq	UTSW	5	108655099	splice site	probably benign
R0513:Dgkq	UTSW	5	108656495	missense	probably benign	0.02
R0525:Dgkq	UTSW	5	108654615	missense	probably damaging	1.00
R0673:Dgkq	UTSW	5	108655589	missense	probably damaging	0.97
R0801:Dgkq	UTSW	5	108660720	splice site	probably null
R0850:Dgkq	UTSW	5	108654578	missense	possibly damaging	0.82
R0944:Dgkq	UTSW	5	108656465	missense	probably damaging	1.00
R1069:Dgkq	UTSW	5	108656037	splice site	probably benign
R1411:Dgkq	UTSW	5	108650362	missense	probably damaging	1.00
R1488:Dgkq	UTSW	5	108650877	missense	probably damaging	1.00
R1858:Dgkq	UTSW	5	108653731	missense	probably benign	0.00
R1874:Dgkq	UTSW	5	108660595	missense	probably benign	0.07
R2210:Dgkq	UTSW	5	108660523	missense	probably damaging	1.00
R4499:Dgkq	UTSW	5	108649661	missense	possibly damaging	0.54
R5061:Dgkq	UTSW	5	108654123	missense	probably benign	0.02
R5474:Dgkq	UTSW	5	108649143	critical splice donor site	probably null
R5951:Dgkq	UTSW	5	108654370	missense	probably damaging	1.00
R6193:Dgkq	UTSW	5	108655500	nonsense	probably null
R6429:Dgkq	UTSW	5	108653708	missense	probably damaging	1.00
R6458:Dgkq	UTSW	5	108654376	missense	possibly damaging	0.93
R7388:Dgkq	UTSW	5	108658246	missense	probably damaging	0.99
R7398:Dgkq	UTSW	5	108655190	missense	possibly damaging	0.90
R8098:Dgkq	UTSW	5	108652468	missense	probably damaging	1.00
R8244:Dgkq	UTSW	5	108648712	makesense	probably null
R8956:Dgkq	UTSW	5	108650229	missense	probably benign	0.22
R9043:Dgkq	UTSW	5	108653195	missense	probably damaging	1.00
R9360:Dgkq	UTSW	5	108650603	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAAGTCCATCTGCTGGCCAG -3'
(R):5'- AACGTTTGACTTTCTGGGACTC -3'

Sequencing Primer
(F):5'- AGCCAGTGTGTGACCAAC -3'
(R):5'- CCTGGTGAGAGCCTCAGAGAG -3'

Posted On

2017-02-16