Mutagenetix > Incidental Mutation

Incidental Mutation 'R3277:Dgkb'

258281

Institutional Source

Beutler Lab

Gene Symbol

Dgkb

Ensembl Gene

ENSMUSG00000036095

Gene Name

diacylglycerol kinase, beta

Synonyms

C630029D13Rik, DGK-beta

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R3277 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37817726-38634239 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 38084217 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 41 (V41M)

Ref Sequence

ENSEMBL: ENSMUSP00000152446 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040500
AA Change: V41M

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000037900
Gene: ENSMUSG00000036095
AA Change: V41M

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

possibly damaging
Transcript: ENSMUST00000220990
AA Change: V41M

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221098

Predicted Effect

probably damaging
Transcript: ENSMUST00000221176
AA Change: V41M

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221540

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.6%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,472,100	R553G	possibly damaging	Het
Adarb2	A	G	13: 8,752,627	N646S	probably damaging	Het
Adcy8	C	T	15: 64,699,159	G1242S	probably benign	Het
Ano9	T	A	7: 141,104,124	T543S	probably damaging	Het
Btnl10	A	G	11: 58,922,390	K282E	probably benign	Het
Btnl9	T	C	11: 49,169,676	D330G	probably damaging	Het
Ccdc178	G	T	18: 22,067,652	A416E	possibly damaging	Het
Cdx2	A	T	5: 147,303,192	S225T	probably benign	Het
Clca4b	T	C	3: 144,911,359	I843M	probably benign	Het
Cntn4	G	A	6: 106,437,964		probably null	Het
Cyp4f18	T	C	8: 71,993,200	D317G	possibly damaging	Het
Dennd4a	G	T	9: 64,888,993	R767L	probably damaging	Het
Duox1	T	C	2: 122,340,116	Y1206H	probably damaging	Het
Dync1i1	T	C	6: 5,972,211		probably null	Het
Fbxw2	T	C	2: 34,822,750	T100A	probably benign	Het
Fcgbp	C	A	7: 28,091,661	H782Q	probably damaging	Het
Flg2	A	T	3: 93,214,888	Q1455L	unknown	Het
Frrs1	T	C	3: 116,899,224	F49S	probably damaging	Het
Gli3	A	T	13: 15,725,982	Q1318L	probably benign	Het
Gm5592	A	G	7: 41,288,380	E362G	probably benign	Het
Gm7104	A	T	12: 88,285,728		noncoding transcript	Het
Gpatch2l	A	G	12: 86,244,315	T91A	possibly damaging	Het
Hacd4	T	C	4: 88,437,510	H46R	probably damaging	Het
Herc2	T	C	7: 56,153,428	V2175A	probably benign	Het
Hey1	T	C	3: 8,664,891	S169G	probably benign	Het
Hivep2	C	A	10: 14,128,969	T437K	probably benign	Het
Hlf	T	C	11: 90,345,835	K199E	probably damaging	Het
Hpgd	C	A	8: 56,298,413	A92E	probably damaging	Het
Hsp90aa1	T	A	12: 110,695,680	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,695,681		probably null	Het
Itgad	C	A	7: 128,190,981	H651N	possibly damaging	Het
Itgav	A	G	2: 83,776,542	D409G	probably damaging	Het
Kif2a	A	G	13: 106,976,756	I455T	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lamc3	G	T	2: 31,908,625	G448C	probably damaging	Het
Ltbp1	G	A	17: 75,276,480	G425D	possibly damaging	Het
Ltbp1	T	A	17: 75,359,278		probably null	Het
Mag	C	T	7: 30,901,648		probably null	Het
Mdh1b	G	A	1: 63,711,531	T426M	possibly damaging	Het
Nr1h4	G	A	10: 89,478,788	T282I	possibly damaging	Het
Nsf	C	T	11: 103,930,752	E26K	possibly damaging	Het
Olfr1231	C	T	2: 89,303,218	V125M	possibly damaging	Het
Olfr1412	A	G	1: 92,588,813	N161S	probably benign	Het
Olfr552	T	C	7: 102,604,576	V74A	possibly damaging	Het
Padi6	A	G	4: 140,735,389	L307P	probably damaging	Het
Parp9	T	C	16: 35,948,208	S20P	probably damaging	Het
Pdcd11	T	C	19: 47,113,264	F963L	probably damaging	Het
Pwp1	C	T	10: 85,882,079	L294F	probably benign	Het
Radil	A	G	5: 142,506,856	L339P	probably damaging	Het
Raver1	G	A	9: 21,079,277	P316S	possibly damaging	Het
Rell1	A	G	5: 63,926,987		probably null	Het
Rxrg	A	G	1: 167,635,700	D257G	possibly damaging	Het
Sema4c	C	T	1: 36,549,879	R722H	possibly damaging	Het
Sgk1	C	T	10: 21,996,601	R171W	probably damaging	Het
Spata7	A	G	12: 98,637,598	N75D	possibly damaging	Het
Ttc23l	A	G	15: 10,547,232	F99L	possibly damaging	Het
Unc13a	A	C	8: 71,629,695	C1642G	probably benign	Het
Usp36	C	T	11: 118,276,759		probably null	Het
Wrn	A	G	8: 33,317,554	M292T	probably damaging	Het
Zfp423	A	G	8: 87,782,331	Y462H	probably damaging	Het
Zscan5b	T	A	7: 6,231,346	Y124N	possibly damaging	Het
Zswim9	T	C	7: 13,277,270	T51A	possibly 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
IGL02212:Dgkb	APN	12	38139414	missense	probably damaging	1.00
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
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
R8739:Dgkb	UTSW	12	38228324	intron	probably benign
R8744:Dgkb	UTSW	12	38438612	missense	probably damaging	0.98
R8943:Dgkb	UTSW	12	38602778	missense	probably damaging	0.97
R8962:Dgkb	UTSW	12	38139495	critical splice donor site	probably null
R9182:Dgkb	UTSW	12	38166777	critical splice donor site	probably null
R9398:Dgkb	UTSW	12	38139658	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- GAGAGACTGTGACCTGAATCC -3'
(R):5'- AATATACTGTATTTAGTGGCCTTCCAC -3'

Sequencing Primer
(F):5'- GAACTTGGGTTTACTCATCAGC -3'
(R):5'- TGCTAAATGGTTTATGGTATGTGAG -3'

Posted On

2015-01-23