Mutagenetix > Incidental Mutation

Incidental Mutation 'R7727:Dgkh'

595583

Institutional Source

Beutler Lab

Gene Symbol

Dgkh

Ensembl Gene

ENSMUSG00000034731

Gene Name

diacylglycerol kinase, eta

Synonyms

5930402B05Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7727 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78558750-78732776 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 78595145 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000074290 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074729] [ENSMUST00000226342] [ENSMUST00000227537] [ENSMUST00000227767] [ENSMUST00000228362]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000074729

SMART Domains

Protein: ENSMUSP00000074290
Gene: ENSMUSG00000034731

Domain	Start	End	E-Value	Type
low complexity region	12	32	N/A	INTRINSIC
PH	63	157	1.91e-19	SMART
C1	173	222	1.35e-16	SMART
C1	245	295	1.66e-7	SMART
DAGKc	329	454	3.11e-62	SMART
low complexity region	654	667	N/A	INTRINSIC
low complexity region	715	730	N/A	INTRINSIC
DAGKa	762	919	1.74e-92	SMART
low complexity region	1124	1134	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000226342

Predicted Effect

probably benign
Transcript: ENSMUST00000227537

Predicted Effect

probably null
Transcript: ENSMUST00000227767

Predicted Effect

probably null
Transcript: ENSMUST00000228362

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (69/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the diacylglycerol kinase (DGK) enzyme family. Members of this family are involved in regulating intracellular concentrations of diacylglycerol and phosphatidic acid. Variation in this gene has been associated with bipolar disorder. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Jul 2014]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210010C04Rik	C	A	6: 41,033,193	R69L	probably benign	Het
Adamts5	A	T	16: 85,899,966	L101Q	probably damaging	Het
Arhgap18	A	T	10: 26,870,011	I293F	possibly damaging	Het
Atp8b1	T	A	18: 64,545,275	Q850L	probably damaging	Het
B4galnt3	A	T	6: 120,225,187	F118Y	probably benign	Het
Bcl6	A	G	16: 23,971,413		probably null	Het
Cc2d2b	T	A	19: 40,756,530	L31Q	probably benign	Het
Cd5l	G	T	3: 87,367,855	E234*	probably null	Het
Cfap65	T	C	1: 74,926,625	T409A	probably benign	Het
Chst5	A	T	8: 111,890,925	I21N	probably benign	Het
Cldn20	T	C	17: 3,532,755	Y68H	probably benign	Het
Col4a4	T	C	1: 82,528,793	M269V	unknown	Het
Dpp6	A	G	5: 27,451,244	T166A	probably benign	Het
Drosha	A	G	15: 12,881,645	D754G	probably damaging	Het
Epb41l4a	C	A	18: 33,854,273	K350N	probably damaging	Het
Fsd1	T	G	17: 55,988,150	D46E	probably benign	Het
Gabra1	T	C	11: 42,133,591	D419G	probably damaging	Het
Golga4	T	A	9: 118,548,702	D458E	probably damaging	Het
Grm6	C	A	11: 50,851,542	A134E	probably benign	Het
Ikzf1	T	A	11: 11,748,339	S63R	probably damaging	Het
Ilvbl	G	A	10: 78,576,666	V74I	probably benign	Het
Kcng2	C	T	18: 80,296,090	V328M	probably benign	Het
Kpna7	T	C	5: 145,005,045	E145G	probably benign	Het
Krt81	A	G	15: 101,459,567	V428A	probably damaging	Het
Lalba	T	C	15: 98,482,668	M2V	probably benign	Het
Lrpprc	T	C	17: 84,776,947	S113G	probably benign	Het
Mboat1	A	C	13: 30,226,306	M249L	probably benign	Het
Meltf	T	C	16: 31,883,794	V113A	probably damaging	Het
Muc16	T	A	9: 18,660,242	H327L	unknown	Het
Myh1	A	G	11: 67,215,922	I1277V	probably benign	Het
Naf1	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	8: 66,860,548		probably benign	Het
Naga	C	A	15: 82,330,147	V388L	probably benign	Het
Nfkb1	A	C	3: 135,585,401	M957R	possibly damaging	Het
Nol12	C	A	15: 78,940,593	S157*	probably null	Het
Olfr1000	A	G	2: 85,608,407	F168L	possibly damaging	Het
Olfr1038-ps	A	T	2: 86,122,496	D191V	possibly damaging	Het
Olfr272	A	G	4: 52,911,368	V142A	possibly damaging	Het
Pcdhga5	T	C	18: 37,695,045	V182A	probably benign	Het
Pik3r4	A	G	9: 105,669,882	E953G	probably damaging	Het
Piwil2	C	T	14: 70,394,057	R646Q	probably damaging	Het
Plxnc1	T	C	10: 94,944,109	H157R	probably damaging	Het
Prrg4	A	T	2: 104,839,378	F131L	probably benign	Het
Rab28	A	G	5: 41,707,970	S4P	probably damaging	Het
Ranbp2	C	A	10: 58,455,438	Q209K	probably benign	Het
Schip1	G	A	3: 68,064,984	D15N	probably benign	Het
Serpina3f	T	G	12: 104,218,218	M207R	probably benign	Het
Sgsm1	A	T	5: 113,274,327	M487K	possibly damaging	Het
Sh3tc2	A	T	18: 61,989,580	I471F	probably benign	Het
Slamf1	G	A	1: 171,774,899	V65I	possibly damaging	Het
Slit3	T	C	11: 35,684,044	C1062R	probably damaging	Het
Snapc4	T	G	2: 26,373,434	K344N	probably damaging	Het
Sorl1	A	G	9: 41,984,526	Y1778H	probably damaging	Het
Spon2	G	A	5: 33,215,675	R228C	probably damaging	Het
Sv2c	A	G	13: 95,976,695	I582T	possibly damaging	Het
Tamm41	C	T	6: 115,016,178	V205M	probably damaging	Het
Tmem2	C	T	19: 21,829,957	L917F	probably benign	Het
Trpm2	T	C	10: 77,925,789	D1009G	probably benign	Het
Trpm6	T	C	19: 18,854,249	S1493P	probably damaging	Het
Ttc34	G	A	4: 154,839,274	V147I	possibly damaging	Het
Uba2	C	T	7: 34,150,850	A393T	probably damaging	Het
Ubn2	T	A	6: 38,463,938	N416K	probably benign	Het
Uevld	T	C	7: 46,943,805	N233S	probably benign	Het
Upp2	G	A	2: 58,774,148	M142I	possibly damaging	Het
Vps52	T	A	17: 33,962,134	V450D	probably benign	Het
Wdr31	A	T	4: 62,460,636	F118Y	probably damaging	Het
Zcchc6	A	G	13: 59,799,682	F942L	probably benign	Het
Zfp110	T	A	7: 12,848,995	D523E	possibly damaging	Het
Zfp367	A	T	13: 64,145,643	V143D	probably damaging	Het
Zfp950	T	C	19: 61,119,941	I235V	probably benign	Het

Other mutations in Dgkh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00654:Dgkh	APN	14	78609593	missense	possibly damaging	0.92
IGL00767:Dgkh	APN	14	78587261	splice site	probably benign
IGL00787:Dgkh	APN	14	78618514	splice site	probably benign
IGL01503:Dgkh	APN	14	78616270	missense	possibly damaging	0.96
IGL02308:Dgkh	APN	14	78587576	missense	probably benign	0.01
IGL02707:Dgkh	APN	14	78585651	missense	possibly damaging	0.75
IGL02987:Dgkh	APN	14	78589872	critical splice donor site	probably null
IGL03058:Dgkh	APN	14	78627797	missense	probably benign	0.23
IGL03341:Dgkh	APN	14	78595491	splice site	probably benign
PIT1430001:Dgkh	UTSW	14	78581513	missense	probably damaging	1.00
PIT4445001:Dgkh	UTSW	14	78575942	missense	possibly damaging	0.91
R0153:Dgkh	UTSW	14	78570129	nonsense	probably null
R0730:Dgkh	UTSW	14	78584479	missense	probably damaging	0.99
R1136:Dgkh	UTSW	14	78624889	missense	probably damaging	1.00
R1162:Dgkh	UTSW	14	78624451	missense	probably damaging	1.00
R1689:Dgkh	UTSW	14	78618544	missense	possibly damaging	0.86
R1771:Dgkh	UTSW	14	78609527	missense	probably damaging	1.00
R1861:Dgkh	UTSW	14	78578792	missense	probably benign	0.04
R1916:Dgkh	UTSW	14	78595223	missense	probably damaging	0.97
R1930:Dgkh	UTSW	14	78616505	missense	probably damaging	1.00
R1931:Dgkh	UTSW	14	78616505	missense	probably damaging	1.00
R1956:Dgkh	UTSW	14	78618541	missense	probably damaging	1.00
R2007:Dgkh	UTSW	14	78603049	missense	probably benign	0.09
R3747:Dgkh	UTSW	14	78584445	missense	probably damaging	1.00
R4446:Dgkh	UTSW	14	78628083	missense	probably damaging	1.00
R4475:Dgkh	UTSW	14	78589878	missense	possibly damaging	0.80
R4965:Dgkh	UTSW	14	78624421	missense	probably damaging	1.00
R4970:Dgkh	UTSW	14	78618637	missense	probably damaging	1.00
R5071:Dgkh	UTSW	14	78604532	missense	probably damaging	1.00
R5652:Dgkh	UTSW	14	78627761	missense	probably damaging	1.00
R5726:Dgkh	UTSW	14	78624902	missense	probably benign	0.16
R5773:Dgkh	UTSW	14	78595455	missense	probably damaging	1.00
R5855:Dgkh	UTSW	14	78624504	critical splice acceptor site	probably null
R6041:Dgkh	UTSW	14	78587627	missense	probably damaging	1.00
R6192:Dgkh	UTSW	14	78628064	nonsense	probably null
R6868:Dgkh	UTSW	14	78624853	missense	probably damaging	0.99
R6981:Dgkh	UTSW	14	78627742	nonsense	probably null
R7095:Dgkh	UTSW	14	78627784	missense	probably benign	0.07
R7473:Dgkh	UTSW	14	78599043	missense	probably benign	0.00
R7495:Dgkh	UTSW	14	78578799	missense	probably benign
R7711:Dgkh	UTSW	14	78725019	missense	probably benign
R7823:Dgkh	UTSW	14	78604481	missense	probably benign
R7846:Dgkh	UTSW	14	78618586	missense	probably damaging	0.99
R7967:Dgkh	UTSW	14	78619816	missense	probably benign	0.10
R8085:Dgkh	UTSW	14	78587118	critical splice donor site	probably null
R8285:Dgkh	UTSW	14	78628126	missense	probably benign	0.18
R8669:Dgkh	UTSW	14	78725019	missense	probably benign
R9069:Dgkh	UTSW	14	78616517	missense	probably damaging	1.00
R9187:Dgkh	UTSW	14	78595161	missense	probably damaging	0.97
R9225:Dgkh	UTSW	14	78725067	missense	probably damaging	0.98
R9410:Dgkh	UTSW	14	78624853	missense	probably damaging	0.99
R9615:Dgkh	UTSW	14	78575930	missense	possibly damaging	0.85
R9761:Dgkh	UTSW	14	78651723	missense	probably damaging	1.00
X0022:Dgkh	UTSW	14	78595461	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTATTTGCATGGCTCCACCC -3'
(R):5'- CAACTACTTTGGGATTGGATTAGATGC -3'

Sequencing Primer
(F):5'- ATGGCTCCACCCTGGTG -3'
(R):5'- GGAGCACCCTGAAAAATGC -3'

Posted On

2019-11-12