Mutagenetix > Incidental Mutation

Incidental Mutation 'R1931:Dgkh'

215396

Institutional Source

Beutler Lab

Gene Symbol

Dgkh

Ensembl Gene

ENSMUSG00000034731

Gene Name

diacylglycerol kinase, eta

Synonyms

5930402B05Rik

MMRRC Submission

039949-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1931 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78558750-78732776 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78616505 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 265 (I265V)

Ref Sequence

ENSEMBL: ENSMUSP00000154031 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000074729
AA Change: I398V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000074290
Gene: ENSMUSG00000034731
AA Change: I398V

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 damaging
Transcript: ENSMUST00000226342
AA Change: I398V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000227537
AA Change: I283V

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably damaging
Transcript: ENSMUST00000227767
AA Change: I265V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227820

Predicted Effect

probably damaging
Transcript: ENSMUST00000228362
AA Change: I265V

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.3%
20x: 92.8%

Validation Efficiency

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700015F17Rik	C	A	5: 5,452,019	W144C	probably benign	Het
Aak1	T	G	6: 86,956,336	S430A	unknown	Het
Abhd16a	T	A	17: 35,101,015	F337L	probably benign	Het
Acsl1	C	A	8: 46,530,986	A514E	probably benign	Het
Adam29	T	C	8: 55,873,089	Y110C	probably damaging	Het
Adamts12	C	A	15: 11,270,599	Q647K	probably benign	Het
Adamts20	T	A	15: 94,404,010	H27L	probably benign	Het
Adamtsl1	A	G	4: 86,342,411	E961G	possibly damaging	Het
AU022751	T	C	X: 6,082,763	E66G	probably benign	Het
AW011738	T	C	4: 156,203,540		probably benign	Het
Bcl9	T	C	3: 97,205,144	M1332V	probably damaging	Het
Birc6	T	C	17: 74,565,982	I412T	probably damaging	Het
Cav1	A	T	6: 17,339,332	I139F	probably damaging	Het
Col4a4	A	C	1: 82,466,600		probably null	Het
Coro2a	A	T	4: 46,539,138	*544R	probably null	Het
Cox15	C	T	19: 43,746,785	R181H	probably benign	Het
Ddx23	G	A	15: 98,650,718	R370W	possibly damaging	Het
Dennd2c	A	G	3: 103,133,252	N278D	probably benign	Het
Diexf	T	A	1: 193,118,309	K401I	probably damaging	Het
Dpp3	A	T	19: 4,917,860		probably benign	Het
Drc7	G	A	8: 95,071,253	R433H	possibly damaging	Het
Ece1	A	G	4: 137,938,763	K306R	probably benign	Het
Eif4b	T	C	15: 102,088,976	S309P	unknown	Het
Eml3	G	A	19: 8,937,143	V507M	probably benign	Het
Fat1	C	T	8: 45,044,228	T4250M	possibly damaging	Het
Fezf1	T	G	6: 23,246,907	I309L	probably damaging	Het
Fsip2	T	A	2: 82,986,733	L4270H	probably damaging	Het
Gabra4	T	C	5: 71,638,237	K206E	probably damaging	Het
Gfm1	A	G	3: 67,456,585	K465E	probably benign	Het
Gpld1	A	T	13: 24,943,710	I32L	possibly damaging	Het
Hist1h4k	A	T	13: 21,750,512		probably null	Het
Hoxd12	A	G	2: 74,675,513	T143A	probably benign	Het
Hoxd12	A	G	2: 74,675,531	T149A	probably benign	Het
Hspg2	T	A	4: 137,540,230	S2050T	probably damaging	Het
Il31ra	T	A	13: 112,541,222	N287I	probably damaging	Het
Itga4	G	A	2: 79,313,844		probably null	Het
Itpr2	A	G	6: 146,240,354	V1730A	probably benign	Het
Klkb1	T	A	8: 45,275,477	Q415L	probably benign	Het
Lcn10	A	G	2: 25,684,335	Y118C	probably damaging	Het
Lgi3	T	C	14: 70,536,268	V294A	probably damaging	Het
Lrp5	C	T	19: 3,610,131	V978I	probably benign	Het
Naaa	A	G	5: 92,278,035	V33A	probably benign	Het
Nckap5l	A	G	15: 99,427,261	F454L	probably damaging	Het
Nol10	A	G	12: 17,348,554	M1V	probably null	Het
Olfm1	G	A	2: 28,222,662		probably null	Het
Olfr520	G	T	7: 99,735,860	R239L	possibly damaging	Het
Olfr784	T	A	10: 129,387,876	M81K	probably benign	Het
Olfr849	T	C	9: 19,441,351	L146P	possibly damaging	Het
Osbp2	T	C	11: 3,726,333		probably null	Het
Osbpl1a	T	A	18: 12,905,194	Q269L	probably benign	Het
Papss2	T	A	19: 32,638,968	C191*	probably null	Het
Pbxip1	A	T	3: 89,447,677		probably null	Het
Pdp1	A	G	4: 11,962,074	I79T	probably benign	Het
Peg10	A	G	6: 4,755,778	Y118C	probably damaging	Het
Pnisr	A	G	4: 21,873,612	T452A	probably benign	Het
Polr2a	A	T	11: 69,735,375	Y1612N	unknown	Het
Polr3c	A	T	3: 96,719,298	L270H	probably damaging	Het
Prr11	A	T	11: 87,106,042	L32*	probably null	Het
Ptgfr	T	A	3: 151,835,194	T226S	probably benign	Het
Ptprz1	T	A	6: 23,007,355	V1639E	probably damaging	Het
Rps6kb1	A	G	11: 86,532,821	V111A	possibly damaging	Het
Sfxn1	A	T	13: 54,093,933	I226F	probably damaging	Het
Sh3pxd2a	A	G	19: 47,267,508	S924P	probably benign	Het
Slc16a5	A	T	11: 115,469,368	I126F	probably damaging	Het
Slc8a3	G	T	12: 81,314,446	T533N	probably damaging	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Spata3	A	C	1: 86,022,061		probably benign	Het
St8sia6	A	G	2: 13,792,812	S48P	probably benign	Het
Stra6l	A	T	4: 45,882,698	R470*	probably null	Het
Stradb	A	C	1: 58,991,105	N173H	probably benign	Het
Sugp1	T	A	8: 70,071,540	D598E	probably benign	Het
Tekt2	T	C	4: 126,322,817		probably null	Het
Tiam2	C	T	17: 3,514,725	R1413C	possibly damaging	Het
Tmprss2	T	C	16: 97,569,062	S301G	probably benign	Het
Tnrc18	A	T	5: 142,776,324	N515K	unknown	Het
Togaram1	A	G	12: 64,966,935	Y320C	probably damaging	Het
Trim41	A	G	11: 48,807,492	V549A	probably damaging	Het
Ugt2b1	T	A	5: 86,917,841	L446F	probably damaging	Het
Unc5b	T	C	10: 60,772,569	T621A	probably benign	Het
Vmn1r214	C	A	13: 23,035,324	H329Q	possibly damaging	Het
Vmn2r109	T	A	17: 20,553,810	K428*	probably null	Het
Vmn2r81	A	C	10: 79,293,494	I740L	probably damaging	Het
Wdfy3	A	G	5: 101,941,492	L612P	probably damaging	Het
Zfp109	G	A	7: 24,228,736	T424M	probably damaging	Het
Zfp735	A	T	11: 73,711,851	K540N	possibly damaging	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
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
R7727:Dgkh	UTSW	14	78595145	critical splice donor site	probably null
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'- AGAACTCGAGCAAGGTCATTG -3'
(R):5'- CTTGAGTTAACTATGGCACTCAAG -3'

Sequencing Primer
(F):5'- AAGGTCATTGCCGGTACCCAAG -3'
(R):5'- GGCACTCAAGTCAATTTTTACATAGG -3'

Posted On

2014-07-14