Mutagenetix > Incidental Mutation

Incidental Mutation 'R8400:Dgkb'

647829

Institutional Source

Beutler Lab

Gene Symbol

Dgkb

Ensembl Gene

ENSMUSG00000036095

Gene Name

diacylglycerol kinase, beta

Synonyms

C630029D13Rik, DGK-beta

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R8400 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37817726-38634239 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 38602838 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000037900 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000040500

SMART Domains

Protein: ENSMUSP00000037900
Gene: ENSMUSG00000036095

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

probably null
Transcript: ENSMUST00000220990

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	A	11: 9,293,925	M1929I	probably benign	Het
Abca13	T	C	11: 9,298,218	I2655T	probably damaging	Het
Acad10	A	G	5: 121,626,205	V887A	possibly damaging	Het
Acot10	T	C	15: 20,666,172	E161G	possibly damaging	Het
Astn1	C	T	1: 158,657,100	P919L	probably benign	Het
Atp1a4	T	A	1: 172,234,494	D688V	probably damaging	Het
C4bp	C	A	1: 130,636,747	C400F	probably damaging	Het
Col6a6	A	C	9: 105,774,796	D1005E	probably damaging	Het
Csnk1g3	C	T	18: 53,953,288	R422C	probably benign	Het
Cutc	T	C	19: 43,753,205	S15P	probably benign	Het
Disc1	T	C	8: 125,232,993	V748A	probably benign	Het
Dmbt1	C	G	7: 131,082,587	D778E	unknown	Het
Dmxl2	T	C	9: 54,383,753	Y2471C	probably benign	Het
Fam185a	T	A	5: 21,438,816	N243K	probably benign	Het
Fchsd2	A	T	7: 101,253,573	Q386L	possibly damaging	Het
Gm904	C	A	13: 50,643,417	P49Q	probably damaging	Het
H2-Q10	C	T	17: 35,470,477	R59C	probably damaging	Het
Ier5l	A	G	2: 30,473,093	Y307H	possibly damaging	Het
Kmt2e	C	A	5: 23,497,092	T906K	probably benign	Het
Kndc1	C	T	7: 139,913,518	R467W	probably damaging	Het
Muc5ac	C	A	7: 141,810,476	T2508K	probably damaging	Het
Nlrp9a	A	T	7: 26,565,006	M784L	probably benign	Het
Nlrp9b	T	A	7: 20,024,012	C391*	probably null	Het
Nubp2	A	C	17: 24,884,465	M146R	probably damaging	Het
Olfr1295	A	T	2: 111,565,402	L14H	probably damaging	Het
Olfr1359	G	A	13: 21,703,915	V305M	probably benign	Het
Olfr1419	T	A	19: 11,871,214	M1L	probably damaging	Het
Olfr43	C	T	11: 74,206,395	V274M	possibly damaging	Het
Olfr694	T	A	7: 106,689,669	S21C	probably benign	Het
Olfr857	A	T	9: 19,713,093	N89Y	probably benign	Het
Otud1	T	C	2: 19,658,378	V106A	possibly damaging	Het
Pcdhac1	T	A	18: 37,092,400	Y755*	probably null	Het
Pkd1l3	C	T	8: 109,623,888	P455L	possibly damaging	Het
Ptprb	GAGACCCTCGGGAGCACTGCAGAGACCCTCAGGAACACTGCAAAGACCCTCGGGAGCACTGCAGAGACCCTCAGGAACACTGCAAAGACCCTCGGGAGCACTGCAGAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	GAGACCCTCGGGAGCACTGCAGAGACCCTCAGGAACACTGCAAAGACCCTCGGGAGCACTGCAGAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	10: 116,283,572		probably benign	Het
Samhd1	T	C	2: 157,099,433	E648G	probably benign	Het
Smarca5	T	C	8: 80,709,127	T794A	probably benign	Het
Spc24	A	T	9: 21,757,730	L87H	probably damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,866,069		probably null	Het
Stra6l	G	A	4: 45,864,905	R77Q	probably damaging	Het
Tdrd1	G	A	19: 56,848,649	V472M	probably benign	Het
Tsc2	A	T	17: 24,604,987	I948K	possibly damaging	Het
Ttc39d	T	C	17: 80,216,005	V31A	probably benign	Het
Vmn1r158	A	T	7: 22,789,880	C301*	probably null	Het
Vmn2r22	A	T	6: 123,637,527	L368*	probably null	Het
Vmn2r79	A	G	7: 87,002,100	T236A	probably benign	Het
Vwa1	T	C	4: 155,772,768	H191R	probably benign	Het
Zdbf2	T	A	1: 63,304,976	V838E	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
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
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'- TGGACATGTGCATGCACTG -3'
(R):5'- CTCATCTACCCTGAGCAAAGG -3'

Sequencing Primer
(F):5'- GTGCATGCACTGTAATTGACCAC -3'
(R):5'- CCTGATAGGAAGTAGCTGTTAAGAC -3'

Posted On

2020-09-02