Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02212:Dgkb'

285531

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dgkb

Ensembl Gene

ENSMUSG00000036095

Gene Name

diacylglycerol kinase, beta

Synonyms

C630029D13Rik, DGK-beta

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.209) question?

Stock #

IGL02212

Quality Score

Status

Chromosome

Chromosomal Location

37817726-38634239 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38139414 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 272 (Y272C)

Ref Sequence

ENSEMBL: ENSMUSP00000152378 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040500] [ENSMUST00000220990] [ENSMUST00000221176]

Predicted Effect

probably damaging
Transcript: ENSMUST00000040500
AA Change: Y272C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037900
Gene: ENSMUSG00000036095
AA Change: Y272C

Domain	Start	End	E-Value	Type
Pfam:DAG_kinase_N	6	141	1.4e-49	PFAM
EFh	145	173	1.82e-4	SMART
EFh	190	218	1.18e-3	SMART
C1	235	286	7.11e-16	SMART
C1	302	350	9.25e-6	SMART
DAGKc	429	553	2.58e-68	SMART
DAGKa	573	753	8.02e-106	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220606

Predicted Effect

probably damaging
Transcript: ENSMUST00000220990
AA Change: Y272C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221098

Predicted Effect

probably benign
Transcript: ENSMUST00000221176

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221540

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Diacylglycerol kinases (DGKs) are regulators of the intracellular concentration of the second messenger diacylglycerol (DAG) and thus play a key role in cellular processes. Nine mammalian isotypes have been identified, which are encoded by separate genes. Mammalian DGK isozymes contain a conserved catalytic (kinase) domain and a cysteine-rich domain (CRD). The protein encoded by this gene is a diacylglycerol kinase, beta isotype. Two alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a transposon distruption have defects in long term potentiation, synapase morphology, and in spatial reference and working memory. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	A	2: 69,248,889	D1079V	probably damaging	Het
Adam18	T	C	8: 24,637,179	H467R	probably benign	Het
Ambra1	T	G	2: 91,917,361	D1056E	probably damaging	Het
Aoah	A	C	13: 21,002,901	N456T	probably benign	Het
Batf2	T	A	19: 6,171,961	F267Y	probably damaging	Het
Bbs7	C	T	3: 36,594,409	V397I	probably benign	Het
Bbs9	T	A	9: 22,812,512	D824E	probably benign	Het
Brd8	C	T	18: 34,602,727	S899N	probably damaging	Het
Brip1	A	T	11: 86,139,015	V601E	possibly damaging	Het
Bub1	A	G	2: 127,805,351	F773L	probably damaging	Het
Cadps	A	T	14: 12,522,345	D606E	possibly damaging	Het
Cenps	T	G	4: 149,128,846	D54A	probably damaging	Het
Cep170	T	A	1: 176,735,936	N1504I	probably damaging	Het
Cttnbp2	A	G	6: 18,382,749	V1340A	possibly damaging	Het
D630003M21Rik	A	T	2: 158,210,171	S667T	probably benign	Het
Dlx3	A	G	11: 95,120,641	D107G	probably benign	Het
Drd3	A	T	16: 43,762,312	N56I	probably benign	Het
Elavl4	T	A	4: 110,206,412	I331F	probably damaging	Het
Fam167a	T	G	14: 63,462,629	S213A	probably damaging	Het
Fasn	A	T	11: 120,807,903	I2489N	probably damaging	Het
Fbxo43	T	C	15: 36,151,811	K587E	probably damaging	Het
Fscn2	A	G	11: 120,362,055	D116G	probably damaging	Het
Galm	T	C	17: 80,150,117	V194A	probably benign	Het
Gm14851	C	T	8: 21,095,260		probably benign	Het
Gpr180	T	A	14: 118,160,176	F361I	probably damaging	Het
Gpx2	A	T	12: 76,792,908	C105*	probably null	Het
Gsdmc2	A	T	15: 63,828,062		probably benign	Het
Hes2	T	G	4: 152,160,525	S150R	probably damaging	Het
Ighv1-56	C	T	12: 115,242,797		probably benign	Het
Inhbb	A	T	1: 119,417,983	V192D	probably benign	Het
Itgal	A	T	7: 127,300,980	M137L	probably benign	Het
Jak2	A	G	19: 29,287,982	N470D	probably benign	Het
Jph1	T	C	1: 17,091,757	E227G	probably damaging	Het
Kcnj6	A	T	16: 94,832,487	I237N	probably damaging	Het
Kctd8	G	T	5: 69,340,688	P205Q	probably benign	Het
Klhdc1	A	T	12: 69,250,766	N37I	probably damaging	Het
Lrp2	T	A	2: 69,451,264	H3921L	probably benign	Het
Lrp8os2	T	C	4: 107,807,048		probably benign	Het
Man2a2	A	C	7: 80,362,308	D700E	probably benign	Het
Mast1	A	T	8: 84,921,397	L485Q	probably damaging	Het
Mmp3	A	G	9: 7,450,165	D299G	probably damaging	Het
Mptx2	T	A	1: 173,274,681	D147V	possibly damaging	Het
Mrpl9	T	A	3: 94,443,817		probably null	Het
Mup21	T	G	4: 62,148,592	E137A	probably damaging	Het
Mutyh	T	A	4: 116,815,606	V52D	probably damaging	Het
Nalcn	T	A	14: 123,515,330	S340C	probably damaging	Het
Neb	A	G	2: 52,308,311	Y474H	probably damaging	Het
Nol8	A	G	13: 49,662,150	E560G	possibly damaging	Het
Ntn4	A	G	10: 93,644,849	D145G	possibly damaging	Het
Nup93	G	A	8: 94,311,662		probably null	Het
Olfr133	C	A	17: 38,148,855	T89K	probably benign	Het
Olfr1384	A	T	11: 49,513,910	I91F	probably damaging	Het
Olfr346	A	G	2: 36,688,182	Y60C	probably damaging	Het
Olfr691	C	T	7: 105,337,143	C191Y	probably damaging	Het
Pcdhb8	T	A	18: 37,356,412	V40E	possibly damaging	Het
Peg3	C	T	7: 6,711,416	R269H	probably benign	Het
Piwil1	T	A	5: 128,750,270	F648I	possibly damaging	Het
Psd4	A	T	2: 24,405,314	K827*	probably null	Het
Retsat	T	A	6: 72,601,710	L135*	probably null	Het
Rtp3	A	G	9: 110,987,321		probably benign	Het
Samd14	A	G	11: 95,023,350	Y305C	probably damaging	Het
Satb1	T	A	17: 51,775,291	Q445L	possibly damaging	Het
Shbg	A	G	11: 69,617,209	L110P	probably damaging	Het
Slc17a6	T	A	7: 51,667,470	I413N	possibly damaging	Het
Slu7	A	T	11: 43,440,642	Q201L	probably benign	Het
Spg11	T	C	2: 122,108,157	T439A	probably benign	Het
Sstr5	A	T	17: 25,491,673	L194Q	possibly damaging	Het
Tjp2	A	T	19: 24,138,786	L13Q	probably damaging	Het
Tnk2	G	A	16: 32,680,142	V758I	probably damaging	Het
Ttll8	C	A	15: 88,917,247	V413L	probably benign	Het
Wiz	T	C	17: 32,368,135	D67G	probably damaging	Het

Other mutations in Dgkb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00754:Dgkb	APN	12	38438568	missense	probably benign	0.05
IGL00768:Dgkb	APN	12	38427479	missense	probably benign	0.00
IGL00792:Dgkb	APN	12	38214389	critical splice donor site	probably null
IGL00934:Dgkb	APN	12	38427456	missense	probably damaging	0.98
IGL00970:Dgkb	APN	12	38190083	missense	probably damaging	1.00
IGL01152:Dgkb	APN	12	38084234	missense	probably damaging	1.00
IGL01489:Dgkb	APN	12	38127385	critical splice donor site	probably null
IGL01993:Dgkb	APN	12	37982010	missense	probably benign	0.19
IGL02687:Dgkb	APN	12	38630629	missense	possibly damaging	0.94
IGL02986:Dgkb	APN	12	38100400	missense	possibly damaging	0.88
IGL03155:Dgkb	APN	12	38139459	missense	probably damaging	1.00
IGL03174:Dgkb	APN	12	38216054	missense	possibly damaging	0.93
IGL03198:Dgkb	APN	12	38136616	missense	probably damaging	0.97
R0063:Dgkb	UTSW	12	38604113	missense	probably benign
R0063:Dgkb	UTSW	12	38604113	missense	probably benign
R0078:Dgkb	UTSW	12	38136541	missense	probably benign	0.35
R0271:Dgkb	UTSW	12	38228026	missense	probably damaging	1.00
R0359:Dgkb	UTSW	12	38216031	missense	probably benign	0.17
R0396:Dgkb	UTSW	12	38190135	critical splice donor site	probably null
R0547:Dgkb	UTSW	12	38604158	missense	probably benign	0.39
R0554:Dgkb	UTSW	12	38216031	missense	probably benign	0.17
R1903:Dgkb	UTSW	12	38166777	critical splice donor site	probably null
R2004:Dgkb	UTSW	12	38084229	missense	probably damaging	1.00
R2265:Dgkb	UTSW	12	38190108	missense	possibly damaging	0.61
R2941:Dgkb	UTSW	12	38604123	missense	possibly damaging	0.96
R3177:Dgkb	UTSW	12	38084217	missense	probably damaging	0.98
R3277:Dgkb	UTSW	12	38084217	missense	probably damaging	0.98
R4319:Dgkb	UTSW	12	38438599	missense	probably damaging	1.00
R4446:Dgkb	UTSW	12	38184953	missense	probably damaging	0.99
R4578:Dgkb	UTSW	12	38427493	missense	possibly damaging	0.87
R4601:Dgkb	UTSW	12	38602820	missense	probably damaging	0.96
R4799:Dgkb	UTSW	12	38114568	missense	possibly damaging	0.89
R4937:Dgkb	UTSW	12	38114658	nonsense	probably null
R5380:Dgkb	UTSW	12	38127300	missense	possibly damaging	0.89
R5485:Dgkb	UTSW	12	38127364	missense	probably damaging	1.00
R5556:Dgkb	UTSW	12	38127364	missense	probably damaging	1.00
R6198:Dgkb	UTSW	12	38173823	missense	probably benign
R6467:Dgkb	UTSW	12	38084224	missense	possibly damaging	0.65
R6467:Dgkb	UTSW	12	38604105	missense	probably damaging	1.00
R6792:Dgkb	UTSW	12	38100425	missense	possibly damaging	0.48
R7056:Dgkb	UTSW	12	38100493	missense	probably benign
R7116:Dgkb	UTSW	12	37981990	missense	probably benign	0.00
R7251:Dgkb	UTSW	12	37981986	missense	possibly damaging	0.77
R7265:Dgkb	UTSW	12	38184932	missense	possibly damaging	0.91
R7268:Dgkb	UTSW	12	38147555	nonsense	probably null
R7342:Dgkb	UTSW	12	38100433	missense	probably benign	0.00
R7535:Dgkb	UTSW	12	38136647	missense	probably damaging	1.00
R7540:Dgkb	UTSW	12	37981790	start gained	probably benign
R7584:Dgkb	UTSW	12	38139392	splice site	probably null
R7714:Dgkb	UTSW	12	38630593	missense	probably damaging	0.99
R7885:Dgkb	UTSW	12	38139426	missense	probably damaging	1.00
R8012:Dgkb	UTSW	12	38139486	missense	probably benign	0.31
R8050:Dgkb	UTSW	12	38124217	missense	probably benign	0.38
R8089:Dgkb	UTSW	12	38184950	missense	probably damaging	1.00
R8103:Dgkb	UTSW	12	38136581	missense	probably damaging	1.00
R8400:Dgkb	UTSW	12	38602838	critical splice donor site	probably null
R8418:Dgkb	UTSW	12	38330017	missense	probably damaging	1.00
R8473:Dgkb	UTSW	12	38184940	missense	probably damaging	0.99
X0023:Dgkb	UTSW	12	38227989	missense	probably benign	0.00
X0027:Dgkb	UTSW	12	38228125	critical splice donor site	probably null
Z1176:Dgkb	UTSW	12	37981996	missense	possibly damaging	0.77
Z1176:Dgkb	UTSW	12	38136613	missense	probably damaging	0.99

Posted On

2015-04-16