Mutagenetix > Incidental Mutation

Incidental Mutation 'R9043:Dgkq'

687825

Institutional Source

Beutler Lab

Gene Symbol

Dgkq

Ensembl Gene

ENSMUSG00000004815

Gene Name

diacylglycerol kinase, theta

Synonyms

Dagk4, Dgk theta, 110kDa, DAGK7, Dgkd

MMRRC Submission

068870-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9043 (G1)

Quality Score

177.009

Status

Validated

Chromosome

Chromosomal Location

108794910-108808696 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 108801061 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 527 (V527D)

Ref Sequence

ENSEMBL: ENSMUSP00000057859 (fasta)

Gene Model

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

AlphaFold

Q6P5E8

Predicted Effect

probably damaging
Transcript: ENSMUST00000053913
AA Change: V527D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000057859
Gene: ENSMUSG00000004815
AA Change: V527D

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 benign
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 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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.0%

Validation Efficiency

99% (87/88)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	T	A	8: 88,309,238 (GRCm39)	S134T	possibly damaging	Het
Aadacl4	T	A	4: 144,349,790 (GRCm39)	L349Q	probably damaging	Het
Ankrd29	T	C	18: 12,428,970 (GRCm39)	N33S	probably damaging	Het
Arid3b	T	C	9: 57,699,900 (GRCm39)	S536G	possibly damaging	Het
Art5	A	C	7: 101,748,699 (GRCm39)	M1R	probably null	Het
Arvcf	T	A	16: 18,218,452 (GRCm39)	C545S	probably damaging	Het
Atpsckmt	A	G	15: 31,617,101 (GRCm39)	T189A	probably benign	Het
Axin2	T	A	11: 108,833,794 (GRCm39)	N580K	probably benign	Het
Cdh23	T	G	10: 60,151,478 (GRCm39)	D2469A	probably benign	Het
Cep350	T	A	1: 155,773,228 (GRCm39)	T1781S	probably damaging	Het
Cfap65	T	A	1: 74,943,847 (GRCm39)	T1555S	possibly damaging	Het
Chga	G	A	12: 102,529,054 (GRCm39)	E344K	possibly damaging	Het
Ckap2l	A	T	2: 129,126,892 (GRCm39)	L429M	probably damaging	Het
Cpne7	C	T	8: 123,856,951 (GRCm39)	P402L	probably damaging	Het
Cyp2g1	A	G	7: 26,509,256 (GRCm39)	N110S	probably benign	Het
Cyp3a11	T	C	5: 145,805,995 (GRCm39)	D124G	probably benign	Het
Dnah3	T	C	7: 119,551,272 (GRCm39)	I37V	probably benign	Het
Dnah9	T	A	11: 65,845,680 (GRCm39)	E3068V		Het
Dusp23	T	C	1: 172,460,184 (GRCm39)	E89G	probably null	Het
Fam187a	A	G	11: 102,776,685 (GRCm39)	Y163C	possibly damaging	Het
Gabrg2	T	A	11: 41,865,662 (GRCm39)	I106F	probably damaging	Het
Gpc2	A	G	5: 138,277,193 (GRCm39)	I78T	probably benign	Het
Gpr149	A	C	3: 62,511,360 (GRCm39)	L213R	probably damaging	Het
Grm1	A	T	10: 10,565,056 (GRCm39)	L1084*	probably null	Het
Gypa	A	G	8: 81,222,946 (GRCm39)	T17A	unknown	Het
Gys2	A	T	6: 142,376,059 (GRCm39)	F534L	probably damaging	Het
Iqce	A	T	5: 140,651,810 (GRCm39)	M721K	probably benign	Het
Klrc2	T	A	6: 129,635,741 (GRCm39)	Y129F	probably damaging	Het
Krt14	T	C	11: 100,095,464 (GRCm39)	S314G	possibly damaging	Het
L3mbtl3	T	C	10: 26,156,152 (GRCm39)	Q685R	unknown	Het
Lamb3	A	T	1: 193,007,919 (GRCm39)	K206*	probably null	Het
Lgr5	A	G	10: 115,314,343 (GRCm39)	I198T	probably damaging	Het
Mapk10	A	T	5: 103,074,025 (GRCm39)		probably benign	Het
Mcm6	C	T	1: 128,271,231 (GRCm39)	D463N	probably damaging	Het
Med15	A	T	16: 17,470,582 (GRCm39)	W742R	probably benign	Het
Meis1	T	A	11: 18,831,916 (GRCm39)	Q374L	possibly damaging	Het
Nrxn3	T	C	12: 89,227,252 (GRCm39)	C296R	probably damaging	Het
Ntaq1	A	G	15: 58,014,004 (GRCm39)	Y67C	possibly damaging	Het
Oaf	C	T	9: 43,135,308 (GRCm39)	A157T	probably damaging	Het
Oca2	T	A	7: 55,927,189 (GRCm39)		probably null	Het
Or5b110-ps1	A	T	19: 13,260,074 (GRCm39)	M116K	probably damaging	Het
Or5b12	T	A	19: 12,897,667 (GRCm39)	E2V	probably benign	Het
Or5d36	T	A	2: 87,900,983 (GRCm39)	T248S	possibly damaging	Het
Or9k2b	A	T	10: 130,016,154 (GRCm39)	H198Q	probably benign	Het
Pacs1	A	G	19: 5,188,964 (GRCm39)	I806T	probably benign	Het
Pax2	T	A	19: 44,804,499 (GRCm39)	S257T	probably benign	Het
Pbxip1	A	T	3: 89,350,794 (GRCm39)	T72S	probably benign	Het
Pcdhb14	T	C	18: 37,581,851 (GRCm39)	I319T	probably damaging	Het
Pcdhga2	C	A	18: 37,802,963 (GRCm39)	A269E	possibly damaging	Het
Pdzph1	A	C	17: 59,280,535 (GRCm39)	N582K	probably benign	Het
Plk2	A	T	13: 110,533,194 (GRCm39)	I186F	probably damaging	Het
Pzp	A	T	6: 128,471,742 (GRCm39)	C895S	probably damaging	Het
Rasa2	A	T	9: 96,484,770 (GRCm39)	V148D	probably damaging	Het
Rgsl1	A	T	1: 153,717,567 (GRCm39)	I14N	possibly damaging	Het
Rhox3c	C	T	X: 36,651,303 (GRCm39)		probably benign	Het
Rnf213	A	G	11: 119,349,739 (GRCm39)	R3867G		Het
Rpap3	A	G	15: 97,584,443 (GRCm39)	Y334H	possibly damaging	Het
Scara3	A	C	14: 66,169,070 (GRCm39)	N182K	probably damaging	Het
Sh3bp1	A	G	15: 78,791,449 (GRCm39)	E412G	possibly damaging	Het
Sh3tc2	T	A	18: 62,122,961 (GRCm39)	I574N	possibly damaging	Het
Slc16a11	T	C	11: 70,106,520 (GRCm39)	Y253H	probably damaging	Het
Slc38a4	A	T	15: 96,906,805 (GRCm39)	V311E	possibly damaging	Het
Slc4a7	T	C	14: 14,775,048 (GRCm38)	L826P	probably damaging	Het
Spag9	T	G	11: 93,951,085 (GRCm39)	V83G		Het
Sspo	T	G	6: 48,470,214 (GRCm39)	V4560G	probably benign	Het
Stxbp2	T	A	8: 3,684,478 (GRCm39)	F144I		Het
Tafa2	T	C	10: 123,540,294 (GRCm39)	V50A	probably damaging	Het
Tdh	T	C	14: 63,730,278 (GRCm39)	I334V	probably benign	Het
Tesk2	C	A	4: 116,660,148 (GRCm39)	S451Y	probably benign	Het
Tjp1	A	T	7: 64,962,679 (GRCm39)	V1166E	probably benign	Het
Tmeff2	G	A	1: 51,018,779 (GRCm39)	V254M	unknown	Het
Tmem126a	A	G	7: 90,100,749 (GRCm39)		probably null	Het
Togaram2	C	G	17: 71,993,699 (GRCm39)	P2A	probably benign	Het
Trappc14	G	A	5: 138,259,889 (GRCm39)	T389I	possibly damaging	Het
Tssk4	C	T	14: 55,889,211 (GRCm39)	R246W	probably damaging	Het
Tubal3	C	T	13: 3,982,708 (GRCm39)	R163*	probably null	Het
Usp48	G	A	4: 137,340,996 (GRCm39)	G332E	probably benign	Het
Vezt	T	C	10: 93,820,027 (GRCm39)	N446S	probably damaging	Het
Vim	A	T	2: 13,579,249 (GRCm39)	T3S	unknown	Het
Vmn2r45	A	G	7: 8,474,904 (GRCm39)	L708P	possibly damaging	Het
Yes1	A	G	5: 32,810,312 (GRCm39)	Y157C	probably damaging	Het
Zfp358	A	G	8: 3,545,810 (GRCm39)	T131A	probably benign	Het
Zfp426	C	T	9: 20,386,308 (GRCm39)	V58M	probably damaging	Het
Zfp692	T	C	11: 58,198,550 (GRCm39)	S47P	probably damaging	Het
Zfp719	A	T	7: 43,239,605 (GRCm39)	T398S	possibly damaging	Het

Other mutations in Dgkq

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00491:Dgkq	APN	5	108,802,448 (GRCm39)	missense	possibly damaging	0.72
IGL02364:Dgkq	APN	5	108,804,310 (GRCm39)	missense	probably benign	0.05
IGL02966:Dgkq	APN	5	108,804,287 (GRCm39)	splice site	probably null
IGL03297:Dgkq	APN	5	108,798,140 (GRCm39)	missense	probably damaging	1.00
R0179:Dgkq	UTSW	5	108,806,066 (GRCm39)	splice site	probably benign
R0194:Dgkq	UTSW	5	108,802,510 (GRCm39)	intron	probably benign
R0332:Dgkq	UTSW	5	108,802,965 (GRCm39)	splice site	probably benign
R0513:Dgkq	UTSW	5	108,804,361 (GRCm39)	missense	probably benign	0.02
R0525:Dgkq	UTSW	5	108,802,481 (GRCm39)	missense	probably damaging	1.00
R0673:Dgkq	UTSW	5	108,803,455 (GRCm39)	missense	probably damaging	0.97
R0801:Dgkq	UTSW	5	108,808,586 (GRCm39)	splice site	probably null
R0850:Dgkq	UTSW	5	108,802,444 (GRCm39)	missense	possibly damaging	0.82
R0944:Dgkq	UTSW	5	108,804,331 (GRCm39)	missense	probably damaging	1.00
R1069:Dgkq	UTSW	5	108,803,903 (GRCm39)	splice site	probably benign
R1411:Dgkq	UTSW	5	108,798,228 (GRCm39)	missense	probably damaging	1.00
R1488:Dgkq	UTSW	5	108,798,743 (GRCm39)	missense	probably damaging	1.00
R1858:Dgkq	UTSW	5	108,801,597 (GRCm39)	missense	probably benign	0.00
R1874:Dgkq	UTSW	5	108,808,461 (GRCm39)	missense	probably benign	0.07
R2210:Dgkq	UTSW	5	108,808,389 (GRCm39)	missense	probably damaging	1.00
R4499:Dgkq	UTSW	5	108,797,527 (GRCm39)	missense	possibly damaging	0.54
R5061:Dgkq	UTSW	5	108,801,989 (GRCm39)	missense	probably benign	0.02
R5474:Dgkq	UTSW	5	108,797,009 (GRCm39)	critical splice donor site	probably null
R5481:Dgkq	UTSW	5	108,796,676 (GRCm39)	splice site	probably null
R5951:Dgkq	UTSW	5	108,802,236 (GRCm39)	missense	probably damaging	1.00
R6193:Dgkq	UTSW	5	108,803,366 (GRCm39)	nonsense	probably null
R6429:Dgkq	UTSW	5	108,801,574 (GRCm39)	missense	probably damaging	1.00
R6458:Dgkq	UTSW	5	108,802,242 (GRCm39)	missense	possibly damaging	0.93
R7388:Dgkq	UTSW	5	108,806,112 (GRCm39)	missense	probably damaging	0.99
R7398:Dgkq	UTSW	5	108,803,056 (GRCm39)	missense	possibly damaging	0.90
R8098:Dgkq	UTSW	5	108,800,334 (GRCm39)	missense	probably damaging	1.00
R8244:Dgkq	UTSW	5	108,796,578 (GRCm39)	makesense	probably null
R8956:Dgkq	UTSW	5	108,798,095 (GRCm39)	missense	probably benign	0.22
R9360:Dgkq	UTSW	5	108,798,469 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAAAAGATGCAGGCCCACAG -3'
(R):5'- GGTAACAGGGTGTAGACAGTTCC -3'

Sequencing Primer
(F):5'- TGCAGGCCCACAGAAAGGAC -3'
(R):5'- TAGACAGTTCCCAGGAGGCTG -3'

Posted On

2021-11-19