Mutagenetix > Incidental Mutation

Incidental Mutation 'R0396:Dgkb'

32072

Institutional Source

Beutler Lab

Gene Symbol

Dgkb

Ensembl Gene

ENSMUSG00000036095

Gene Name

diacylglycerol kinase, beta

Synonyms

C630029D13Rik, DGK-beta

MMRRC Submission

038602-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R0396 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37930169-38684238 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 38240134 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152378 (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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221540

Meta Mutation Damage Score

0.9476

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.5%
20x: 89.8%

Validation Efficiency

92% (96/104)

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	G	A	8: 106,436,412 (GRCm39)	V194I	probably benign	Het
Acsm1	A	T	7: 119,235,678 (GRCm39)	I133F	probably damaging	Het
Adamts9	T	A	6: 92,774,986 (GRCm39)	T1676S	probably benign	Het
Adcy4	T	C	14: 56,009,745 (GRCm39)	D769G	probably benign	Het
Aif1	T	C	17: 35,390,085 (GRCm39)	*148W	probably null	Het
Akna	C	T	4: 63,310,363 (GRCm39)		probably benign	Het
Arhgap32	G	A	9: 32,156,551 (GRCm39)		probably null	Het
Atpaf1	G	A	4: 115,642,449 (GRCm39)	E92K	possibly damaging	Het
Bltp2	T	C	11: 78,159,203 (GRCm39)	V467A	possibly damaging	Het
C1s1	T	C	6: 124,510,313 (GRCm39)	E378G	probably benign	Het
Caprin1	T	A	2: 103,599,914 (GRCm39)	Q108L	probably damaging	Het
Car13	A	T	3: 14,721,299 (GRCm39)	H154L	probably benign	Het
Cdon	C	A	9: 35,381,426 (GRCm39)	N605K	probably damaging	Het
Ceacam10	G	A	7: 24,480,439 (GRCm39)	G70E	probably damaging	Het
Cfap221	G	A	1: 119,881,930 (GRCm39)	T286M	probably benign	Het
Cfap61	T	C	2: 145,791,864 (GRCm39)	F107S	possibly damaging	Het
Coil	C	A	11: 88,872,449 (GRCm39)	T270N	probably benign	Het
Crocc2	T	G	1: 93,151,936 (GRCm39)		probably benign	Het
Crot	T	C	5: 9,019,959 (GRCm39)	E461G	probably damaging	Het
D130052B06Rik	G	T	11: 33,573,391 (GRCm39)	R41L	unknown	Het
D630045J12Rik	T	C	6: 38,173,671 (GRCm39)	S166G	possibly damaging	Het
Dennd4a	T	G	9: 64,769,673 (GRCm39)	V460G	probably damaging	Het
Depdc7	A	T	2: 104,557,668 (GRCm39)		probably benign	Het
Dhx57	T	G	17: 80,582,226 (GRCm39)	S407R	probably benign	Het
Dnase2a	G	T	8: 85,636,392 (GRCm39)		probably benign	Het
Dqx1	T	G	6: 83,035,986 (GRCm39)	M106R	probably benign	Het
Eno1b	T	C	18: 48,180,806 (GRCm39)	I328T	probably benign	Het
Ephx2	T	G	14: 66,345,512 (GRCm39)	I151L	probably benign	Het
Gdf3	C	T	6: 122,584,094 (GRCm39)	G91D	probably damaging	Het
Gpc5	T	A	14: 115,665,620 (GRCm39)	N481K	possibly damaging	Het
Gsdme	T	A	6: 50,198,087 (GRCm39)	H291L	probably benign	Het
H2-T13	A	G	17: 36,394,614 (GRCm39)	I103T	possibly damaging	Het
Hif3a	G	A	7: 16,785,946 (GRCm39)		probably benign	Het
Hmox2	A	T	16: 4,583,627 (GRCm39)	I232L	probably benign	Het
Itgb2	A	G	10: 77,397,023 (GRCm39)	Y686C	probably damaging	Het
Jmjd1c	A	G	10: 67,055,302 (GRCm39)	T528A	possibly damaging	Het
Kdr	T	C	5: 76,121,388 (GRCm39)	I541V	possibly damaging	Het
Khdrbs2	C	A	1: 32,559,054 (GRCm39)	V343L	probably damaging	Het
Kif16b	C	T	2: 142,695,579 (GRCm39)	R175H	probably damaging	Het
Klri2	T	G	6: 129,717,251 (GRCm39)	E44A	possibly damaging	Het
Kmt2b	G	T	7: 30,276,180 (GRCm39)	T1773K	probably damaging	Het
Lair1	A	G	7: 4,013,785 (GRCm39)	L154P	probably damaging	Het
Larp1b	G	A	3: 40,924,996 (GRCm39)	V158M	probably damaging	Het
Lgi3	T	A	14: 70,772,280 (GRCm39)	I275N	probably damaging	Het
Lrba	A	G	3: 86,202,486 (GRCm39)	N246D	probably damaging	Het
Lrrc45	T	A	11: 120,605,733 (GRCm39)		probably benign	Het
Mdh2	G	T	5: 135,818,533 (GRCm39)	V263L	probably benign	Het
Myom1	T	A	17: 71,341,688 (GRCm39)	V149E	probably damaging	Het
Nanos1	A	T	19: 60,745,479 (GRCm39)	D259V	probably damaging	Het
Nedd4l	T	A	18: 65,294,725 (GRCm39)		probably benign	Het
Npas3	A	G	12: 53,878,528 (GRCm39)	Y150C	probably damaging	Het
Or10ab4	A	T	7: 107,655,170 (GRCm39)	H327L	probably benign	Het
Or10ag59	T	A	2: 87,405,911 (GRCm39)	V161D	possibly damaging	Het
Or2h1b	C	T	17: 37,462,446 (GRCm39)	C139Y	probably damaging	Het
Or2y1f	A	T	11: 49,184,165 (GRCm39)	I6F	probably benign	Het
Or52e15	G	A	7: 104,645,913 (GRCm39)	A66V	probably damaging	Het
Or8k28	T	C	2: 86,286,363 (GRCm39)	N84S	possibly damaging	Het
Pde4c	A	G	8: 71,202,725 (GRCm39)	N637S	probably benign	Het
Pds5b	T	A	5: 150,702,740 (GRCm39)	V824D	possibly damaging	Het
Pole2	A	T	12: 69,269,160 (GRCm39)		probably benign	Het
Ppig	C	T	2: 69,566,320 (GRCm39)		probably benign	Het
Prep	A	G	10: 44,968,772 (GRCm39)	Y90C	probably damaging	Het
Proca1	A	T	11: 78,085,731 (GRCm39)	R11S	probably damaging	Het
Prph	T	A	15: 98,954,872 (GRCm39)	W313R	probably benign	Het
Prune2	C	T	19: 17,100,444 (GRCm39)	P1983S	probably benign	Het
Ptbp2	G	A	3: 119,517,847 (GRCm39)		probably benign	Het
Rsph6a	C	T	7: 18,808,031 (GRCm39)	P398L	probably damaging	Het
Sdk2	T	C	11: 113,720,793 (GRCm39)	I1379V	probably benign	Het
Sf3b1	C	T	1: 55,058,430 (GRCm39)	G53E	probably damaging	Het
Slc9a3	T	C	13: 74,305,903 (GRCm39)		probably null	Het
Smarcal1	A	T	1: 72,665,632 (GRCm39)	H710L	probably benign	Het
Soat2	GAGAAG	GAG	15: 102,059,142 (GRCm39)		probably benign	Het
Sptan1	T	C	2: 29,881,045 (GRCm39)	V438A	probably damaging	Het
Sstr4	T	A	2: 148,238,181 (GRCm39)	V264D	probably damaging	Het
Susd2	A	G	10: 75,475,745 (GRCm39)	L418P	probably damaging	Het
Synj1	A	G	16: 90,735,528 (GRCm39)	V1475A	probably benign	Het
Szt2	G	A	4: 118,233,544 (GRCm39)		probably benign	Het
Tbc1d4	T	C	14: 101,695,499 (GRCm39)		probably null	Het
Tesk1	A	G	4: 43,446,000 (GRCm39)	E311G	probably damaging	Het
Tmed5	A	T	5: 108,273,882 (GRCm39)	V119E	probably damaging	Het
Tmem260	T	C	14: 48,724,324 (GRCm39)	S201P	possibly damaging	Het
Tnxb	A	G	17: 34,890,707 (GRCm39)	Y350C	probably damaging	Het
Tpte	T	C	8: 22,825,624 (GRCm39)		probably benign	Het
Trim37	A	T	11: 87,037,794 (GRCm39)	D161V	probably damaging	Het
Trrap	C	A	5: 144,751,366 (GRCm39)	Q1640K	probably damaging	Het
Tspoap1	T	C	11: 87,667,172 (GRCm39)		probably benign	Het
Ttk	T	A	9: 83,729,313 (GRCm39)		probably benign	Het
Vmn1r172	A	G	7: 23,359,957 (GRCm39)	S281G	probably benign	Het
Vmn1r177	A	G	7: 23,565,022 (GRCm39)	S285P	probably damaging	Het
Vmn1r231	C	T	17: 21,110,661 (GRCm39)	V85I	probably damaging	Het
Vmn2r100	C	A	17: 19,742,382 (GRCm39)	P252Q	possibly damaging	Het
Vmn2r118	T	C	17: 55,915,643 (GRCm39)	I436V	probably benign	Het
Vmn2r12	T	C	5: 109,240,765 (GRCm39)	K116R	probably benign	Het
Vmn2r28	T	A	7: 5,491,513 (GRCm39)	I245L	probably benign	Het
Wdr26	A	T	1: 181,008,216 (GRCm39)		probably benign	Het
Xrcc3	A	T	12: 111,776,391 (GRCm39)	H67Q	probably benign	Het
Zbbx	A	T	3: 74,985,802 (GRCm39)	S417T	possibly damaging	Het
Zc3h13	A	G	14: 75,560,922 (GRCm39)	D504G	unknown	Het
Zfp1005	G	A	2: 150,109,973 (GRCm39)	G221D	probably damaging	Het
Zfp217	C	T	2: 169,957,382 (GRCm39)	A539T	probably benign	Het
Zyg11b	A	T	4: 108,112,505 (GRCm39)	F388I	probably damaging	Het

Other mutations in Dgkb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00754:Dgkb	APN	12	38,488,567 (GRCm39)	missense	probably benign	0.05
IGL00768:Dgkb	APN	12	38,477,478 (GRCm39)	missense	probably benign	0.00
IGL00792:Dgkb	APN	12	38,264,388 (GRCm39)	critical splice donor site	probably null
IGL00934:Dgkb	APN	12	38,477,455 (GRCm39)	missense	probably damaging	0.98
IGL00970:Dgkb	APN	12	38,240,082 (GRCm39)	missense	probably damaging	1.00
IGL01152:Dgkb	APN	12	38,134,233 (GRCm39)	missense	probably damaging	1.00
IGL01489:Dgkb	APN	12	38,177,384 (GRCm39)	critical splice donor site	probably null
IGL01993:Dgkb	APN	12	38,032,009 (GRCm39)	missense	probably benign	0.19
IGL02212:Dgkb	APN	12	38,189,413 (GRCm39)	missense	probably damaging	1.00
IGL02687:Dgkb	APN	12	38,680,628 (GRCm39)	missense	possibly damaging	0.94
IGL02986:Dgkb	APN	12	38,150,399 (GRCm39)	missense	possibly damaging	0.88
IGL03155:Dgkb	APN	12	38,189,458 (GRCm39)	missense	probably damaging	1.00
IGL03174:Dgkb	APN	12	38,266,053 (GRCm39)	missense	possibly damaging	0.93
IGL03198:Dgkb	APN	12	38,186,615 (GRCm39)	missense	probably damaging	0.97
R0063:Dgkb	UTSW	12	38,654,112 (GRCm39)	missense	probably benign
R0063:Dgkb	UTSW	12	38,654,112 (GRCm39)	missense	probably benign
R0078:Dgkb	UTSW	12	38,186,540 (GRCm39)	missense	probably benign	0.35
R0271:Dgkb	UTSW	12	38,278,025 (GRCm39)	missense	probably damaging	1.00
R0359:Dgkb	UTSW	12	38,266,030 (GRCm39)	missense	probably benign	0.17
R0547:Dgkb	UTSW	12	38,654,157 (GRCm39)	missense	probably benign	0.39
R0554:Dgkb	UTSW	12	38,266,030 (GRCm39)	missense	probably benign	0.17
R1903:Dgkb	UTSW	12	38,216,776 (GRCm39)	critical splice donor site	probably null
R2004:Dgkb	UTSW	12	38,134,228 (GRCm39)	missense	probably damaging	1.00
R2265:Dgkb	UTSW	12	38,240,107 (GRCm39)	missense	possibly damaging	0.61
R2941:Dgkb	UTSW	12	38,654,122 (GRCm39)	missense	possibly damaging	0.96
R3177:Dgkb	UTSW	12	38,134,216 (GRCm39)	missense	probably damaging	0.98
R3277:Dgkb	UTSW	12	38,134,216 (GRCm39)	missense	probably damaging	0.98
R4319:Dgkb	UTSW	12	38,488,598 (GRCm39)	missense	probably damaging	1.00
R4446:Dgkb	UTSW	12	38,234,952 (GRCm39)	missense	probably damaging	0.99
R4578:Dgkb	UTSW	12	38,477,492 (GRCm39)	missense	possibly damaging	0.87
R4601:Dgkb	UTSW	12	38,652,819 (GRCm39)	missense	probably damaging	0.96
R4799:Dgkb	UTSW	12	38,164,567 (GRCm39)	missense	possibly damaging	0.89
R4937:Dgkb	UTSW	12	38,164,657 (GRCm39)	nonsense	probably null
R5380:Dgkb	UTSW	12	38,177,299 (GRCm39)	missense	possibly damaging	0.89
R5485:Dgkb	UTSW	12	38,177,363 (GRCm39)	missense	probably damaging	1.00
R5556:Dgkb	UTSW	12	38,177,363 (GRCm39)	missense	probably damaging	1.00
R6198:Dgkb	UTSW	12	38,223,822 (GRCm39)	missense	probably benign
R6467:Dgkb	UTSW	12	38,654,104 (GRCm39)	missense	probably damaging	1.00
R6467:Dgkb	UTSW	12	38,134,223 (GRCm39)	missense	possibly damaging	0.65
R6792:Dgkb	UTSW	12	38,150,424 (GRCm39)	missense	possibly damaging	0.48
R7056:Dgkb	UTSW	12	38,150,492 (GRCm39)	missense	probably benign
R7116:Dgkb	UTSW	12	38,031,989 (GRCm39)	missense	probably benign	0.00
R7251:Dgkb	UTSW	12	38,031,985 (GRCm39)	missense	possibly damaging	0.77
R7265:Dgkb	UTSW	12	38,234,931 (GRCm39)	missense	possibly damaging	0.91
R7268:Dgkb	UTSW	12	38,197,554 (GRCm39)	nonsense	probably null
R7342:Dgkb	UTSW	12	38,150,432 (GRCm39)	missense	probably benign	0.00
R7535:Dgkb	UTSW	12	38,186,646 (GRCm39)	missense	probably damaging	1.00
R7540:Dgkb	UTSW	12	38,031,789 (GRCm39)	start gained	probably benign
R7584:Dgkb	UTSW	12	38,189,391 (GRCm39)	splice site	probably null
R7714:Dgkb	UTSW	12	38,680,592 (GRCm39)	missense	probably damaging	0.99
R7885:Dgkb	UTSW	12	38,189,425 (GRCm39)	missense	probably damaging	1.00
R8012:Dgkb	UTSW	12	38,189,485 (GRCm39)	missense	probably benign	0.31
R8050:Dgkb	UTSW	12	38,174,216 (GRCm39)	missense	probably benign	0.38
R8089:Dgkb	UTSW	12	38,234,949 (GRCm39)	missense	probably damaging	1.00
R8103:Dgkb	UTSW	12	38,186,580 (GRCm39)	missense	probably damaging	1.00
R8400:Dgkb	UTSW	12	38,652,837 (GRCm39)	critical splice donor site	probably null
R8418:Dgkb	UTSW	12	38,380,016 (GRCm39)	missense	probably damaging	1.00
R8473:Dgkb	UTSW	12	38,234,939 (GRCm39)	missense	probably damaging	0.99
R8739:Dgkb	UTSW	12	38,278,323 (GRCm39)	intron	probably benign
R8744:Dgkb	UTSW	12	38,488,611 (GRCm39)	missense	probably damaging	0.98
R8943:Dgkb	UTSW	12	38,652,777 (GRCm39)	missense	probably damaging	0.97
R8962:Dgkb	UTSW	12	38,189,494 (GRCm39)	critical splice donor site	probably null
R9182:Dgkb	UTSW	12	38,216,776 (GRCm39)	critical splice donor site	probably null
R9398:Dgkb	UTSW	12	38,189,657 (GRCm39)	missense	probably damaging	1.00
X0023:Dgkb	UTSW	12	38,277,988 (GRCm39)	missense	probably benign	0.00
X0027:Dgkb	UTSW	12	38,278,124 (GRCm39)	critical splice donor site	probably null
Z1176:Dgkb	UTSW	12	38,186,612 (GRCm39)	missense	probably damaging	0.99
Z1176:Dgkb	UTSW	12	38,031,995 (GRCm39)	missense	possibly damaging	0.77

Predicted Primers

PCR Primer
(F):5'- CAGTTGCTGCATTATGGCCCTGT -3'
(R):5'- GCTGTTCTGAAGAACATCTGCCCC -3'

Sequencing Primer
(F):5'- AAGGGCCACTAGTTCTTTGAC -3'
(R):5'- TTTCTGGACACAGCACCCTT -3'

Posted On

2013-04-24