Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00767:Dgkh'

10138

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dgkh

Ensembl Gene

ENSMUSG00000034731

Gene Name

diacylglycerol kinase, eta

Synonyms

5930402B05Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00767

Quality Score

Status

Chromosome

Chromosomal Location

78558750-78732776 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 78587261 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000154554 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
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 benign
Transcript: ENSMUST00000226342

Predicted Effect

probably benign
Transcript: ENSMUST00000227537

Predicted Effect

probably benign
Transcript: ENSMUST00000227767

Predicted Effect

probably benign
Transcript: ENSMUST00000228362

Coding Region Coverage

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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	T	C	6: 149,334,750		probably benign	Het
Anpep	A	C	7: 79,840,890	S293A	probably benign	Het
Dlg5	T	A	14: 24,165,285	T657S	probably damaging	Het
Hpf1	A	G	8: 60,896,802	I155V	probably benign	Het
Il12rb2	T	C	6: 67,303,562	I554V	possibly damaging	Het
Mindy2	A	G	9: 70,634,003		probably null	Het
Nostrin	A	G	2: 69,175,775	T268A	probably benign	Het
Npy6r	A	G	18: 44,276,318	T269A	probably benign	Het
Nt5dc3	T	A	10: 86,820,273		probably benign	Het
Osgin2	G	A	4: 16,006,377	H106Y	probably damaging	Het
Pdlim3	G	A	8: 45,896,790	G46R	probably damaging	Het
Pdpk1	T	G	17: 24,106,861	K147N	possibly damaging	Het
Pfkfb3	T	C	2: 11,488,754	D137G	probably damaging	Het
Polg	G	A	7: 79,451,925	P1048S	probably damaging	Het
Ptcd3	A	T	6: 71,903,448	I97K	probably damaging	Het
Serpinb10	G	T	1: 107,536,077	V30F	possibly damaging	Het
Stk17b	A	G	1: 53,764,023		probably benign	Het
Tll1	G	A	8: 64,071,321	R444C	probably damaging	Het
Ttbk2	A	G	2: 120,745,745	V848A	probably benign	Het
Ttn	T	C	2: 76,885,673		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
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
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

Posted On

2012-12-06