Mutagenetix > Incidental Mutation

Incidental Mutation 'R1689:Dgkh'

189599

Institutional Source

Beutler Lab

Gene Symbol

Dgkh

Ensembl Gene

ENSMUSG00000034731

Gene Name

diacylglycerol kinase, eta

Synonyms

5930402B05Rik

MMRRC Submission

039722-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1689 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78558750-78732776 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 78618544 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 363 (M363K)

Ref Sequence

ENSEMBL: ENSMUSP00000154036 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074729
AA Change: M363K

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000074290
Gene: ENSMUSG00000034731
AA Change: M363K

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

possibly damaging
Transcript: ENSMUST00000226342
AA Change: M363K

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227537
AA Change: M248K

PolyPhen 2 Score 0.776 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000227767
AA Change: M230K

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227820

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228362
AA Change: M230K

PolyPhen 2 Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 46,120,403	K896R	probably benign	Het
Adcy9	A	T	16: 4,297,562		probably null	Het
Adgre1	T	C	17: 57,449,921	F726S	probably benign	Het
Ahctf1	A	T	1: 179,768,383	S148T	probably damaging	Het
Aif1	G	A	17: 35,172,151	P44L	probably benign	Het
Ammecr1l	C	A	18: 31,780,688	A289D	probably benign	Het
Amotl1	T	C	9: 14,593,222	Y230C	probably damaging	Het
Armc6	A	T	8: 70,229,537	S65R	probably benign	Het
Atad2b	T	A	12: 5,034,575	Y1440*	probably null	Het
Atf6b	T	A	17: 34,650,302	D164E	probably damaging	Het
B020004J07Rik	T	A	4: 101,837,179	K169I	possibly damaging	Het
B4galt6	C	T	18: 20,706,496	S127N	probably benign	Het
Bcl11a	A	T	11: 24,163,167	Y170F	probably damaging	Het
Bcl11a	A	T	11: 24,164,406	D583V	possibly damaging	Het
Btnl1	T	A	17: 34,381,208	Y228*	probably null	Het
C130060K24Rik	A	G	6: 65,381,607	N105S	possibly damaging	Het
Cav2	A	G	6: 17,281,422	H21R	probably benign	Het
Celsr2	T	A	3: 108,407,304	D1135V	possibly damaging	Het
Cntnap1	A	C	11: 101,188,873		probably null	Het
Cysltr2	T	C	14: 73,030,030	D80G	possibly damaging	Het
Dclk2	C	T	3: 86,805,639	R503Q	possibly damaging	Het
Eml5	C	T	12: 98,830,935	V1112M	probably damaging	Het
Entpd7	A	G	19: 43,725,476	T425A	probably damaging	Het
Ephx2	T	A	14: 66,087,026	K373*	probably null	Het
F5	G	C	1: 164,198,917	R1686P	probably damaging	Het
Fbxw10	A	T	11: 62,860,036	I482L	probably damaging	Het
Fbxw8	T	C	5: 118,077,617	S443G	probably damaging	Het
Fdft1	T	C	14: 63,156,689	E191G	probably benign	Het
Fgd2	A	G	17: 29,363,722	E26G	probably benign	Het
Gabra4	T	C	5: 71,633,542		probably null	Het
Gc	A	G	5: 89,441,200		probably null	Het
Heatr1	T	A	13: 12,424,625	D1361E	probably benign	Het
Hid1	A	G	11: 115,360,357	F118L	probably damaging	Het
Igsf8	G	T	1: 172,318,937	G564W	probably damaging	Het
Il12rb2	A	G	6: 67,336,760	V4A	probably benign	Het
Irak3	T	C	10: 120,146,552	E335G	probably damaging	Het
Itgb8	T	G	12: 119,170,820	Q504P	probably benign	Het
Kbtbd12	A	T	6: 88,618,585	Y88N	probably damaging	Het
Klk1b5	T	C	7: 44,220,545	I226T	probably damaging	Het
L3hypdh	A	T	12: 72,084,753	I135N	probably damaging	Het
Lrp2	G	T	2: 69,503,529	T1456K	probably benign	Het
Mrgprd	C	A	7: 145,321,717	Y108*	probably null	Het
Muc6	C	T	7: 141,647,998	G742D	probably damaging	Het
Nalcn	T	A	14: 123,285,254	I1572F	probably damaging	Het
Nceh1	A	G	3: 27,226,082	Y126C	probably damaging	Het
Olfr125	T	C	17: 37,835,604	S202P	possibly damaging	Het
Olfr356	A	G	2: 36,937,977	N286S	probably damaging	Het
Olfr867	A	T	9: 20,055,126	N112K	possibly damaging	Het
Pacs1	G	T	19: 5,272,615		probably benign	Het
Pappa2	A	G	1: 158,957,398	L14P	probably damaging	Het
Pdlim2	C	T	14: 70,171,239	G176D	probably damaging	Het
Ptpra	T	C	2: 130,503,492	F5L	probably benign	Het
Ralgapa1	A	G	12: 55,676,767	L2114P	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Senp2	T	A	16: 22,026,666	Y217N	probably damaging	Het
Sned1	C	T	1: 93,283,372	R1061C	probably damaging	Het
Spag16	C	T	1: 70,461,118	T535I	probably benign	Het
Supt20	T	A	3: 54,712,162	L355*	probably null	Het
Tmem132b	A	G	5: 125,787,614	H928R	possibly damaging	Het
Tpo	A	T	12: 30,098,246	L552H	probably damaging	Het
Tsfm	A	T	10: 127,028,455	N130K	probably damaging	Het
Usp48	T	A	4: 137,656,107		probably null	Het
Vsig10	A	G	5: 117,352,760	D544G	probably benign	Het
Vsig10l	C	T	7: 43,465,368	T433I	possibly damaging	Het
Wdr81	A	G	11: 75,445,596	F1655L	probably damaging	Het
Wfdc3	T	A	2: 164,734,191	D60V	probably 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
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
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'- TCGACAAAGCTCAAATGTAGGGACG -3'
(R):5'- ACGGTGATGCGCCAGCATTAAG -3'

Sequencing Primer
(F):5'- agacagggtttctcagtgtg -3'
(R):5'- AAGGAAGGTTCCTTGCTTTCAC -3'

Posted On

2014-05-14