Mutagenetix > Incidental Mutation

Incidental Mutation 'R4601:Dgkb'

345651

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: 0.130) question?

Stock #

R4601 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37930169-38684238 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38652819 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 735 (S735P)

Ref Sequence

ENSEMBL: ENSMUSP00000152378 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000040500
AA Change: S735P

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000037900
Gene: ENSMUSG00000036095
AA Change: S735P

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 damaging
Transcript: ENSMUST00000220990
AA Change: S735P

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222132

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222922

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 94.5%

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	T	A	17: 45,827,847 (GRCm39)	D555E	probably damaging	Het
Abca16	T	G	7: 120,035,920 (GRCm39)	F334L	probably damaging	Het
Abcc4	T	A	14: 118,869,575 (GRCm39)	M186L	probably benign	Het
Agap3	T	C	5: 24,681,406 (GRCm39)	L120P	probably damaging	Het
Ak7	G	A	12: 105,679,834 (GRCm39)	V123M	probably benign	Het
Aldh1a7	A	T	19: 20,693,343 (GRCm39)	V192D	probably damaging	Het
Ankrd36	A	G	11: 5,520,102 (GRCm39)	D59G	probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Cacna1e	A	G	1: 154,347,359 (GRCm39)	V936A	probably benign	Het
Camkv	T	C	9: 107,823,295 (GRCm39)	V107A	probably damaging	Het
Camp	T	C	9: 109,677,730 (GRCm39)	E80G	probably damaging	Het
Cblif	A	C	19: 11,729,554 (GRCm39)	D171A	probably damaging	Het
Ccdc66	T	C	14: 27,222,377 (GRCm39)	N122S	probably damaging	Het
Cd101	G	A	3: 100,901,204 (GRCm39)	T960M	possibly damaging	Het
Cdk18	A	G	1: 132,044,657 (GRCm39)	V323A	possibly damaging	Het
Celf2	G	T	2: 6,590,831 (GRCm39)	N279K	possibly damaging	Het
Cemip	T	C	7: 83,600,826 (GRCm39)	I932V	probably damaging	Het
Cep250	C	A	2: 155,803,973 (GRCm39)	Q28K	probably benign	Het
Ces2f	T	C	8: 105,676,596 (GRCm39)	C97R	probably damaging	Het
Cfap126	G	T	1: 170,941,627 (GRCm39)	G41C	possibly damaging	Het
Cfap96	A	T	8: 46,423,505 (GRCm39)	I69N	probably damaging	Het
Chat	T	C	14: 32,146,112 (GRCm39)	M354V	probably benign	Het
Clca4b	A	T	3: 144,632,945 (GRCm39)	D168E	possibly damaging	Het
Cpxm1	T	A	2: 130,235,496 (GRCm39)	M499L	possibly damaging	Het
Dennd3	T	A	15: 73,439,009 (GRCm39)	W1126R	probably damaging	Het
Dlec1	T	C	9: 118,976,202 (GRCm39)		probably null	Het
Dnajc6	T	C	4: 101,468,461 (GRCm39)	F166L	probably damaging	Het
Dph5	A	G	3: 115,693,426 (GRCm39)	N115D	possibly damaging	Het
Ercc3	G	A	18: 32,378,624 (GRCm39)	A202T	probably benign	Het
Erich3	A	T	3: 154,470,375 (GRCm39)	D136V	unknown	Het
Exoc2	T	C	13: 31,066,251 (GRCm39)	N475S	probably benign	Het
Fam217a	T	C	13: 35,095,285 (GRCm39)	D310G	probably damaging	Het
Fam53a	C	T	5: 33,758,007 (GRCm39)	S372N	probably benign	Het
Fbn2	C	G	18: 58,186,805 (GRCm39)	G1699R	probably damaging	Het
Fbxo46	T	C	7: 18,869,489 (GRCm39)	V36A	probably benign	Het
Fhip1a	T	C	3: 85,648,487 (GRCm39)	M26V	probably damaging	Het
G6pc1	A	G	11: 101,263,567 (GRCm39)	Y127C	probably damaging	Het
Gba2	A	G	4: 43,573,810 (GRCm39)	F161L	probably damaging	Het
Gja1	T	C	10: 56,264,325 (GRCm39)	L228P	probably damaging	Het
Gm20834	A	G	Y: 10,323,178 (GRCm39)	V86A	probably benign	Het
Hmcn1	A	T	1: 150,614,396 (GRCm39)	C1337S	probably damaging	Het
Il1rl1	T	A	1: 40,480,460 (GRCm39)	S30T	possibly damaging	Het
Itgb4	A	G	11: 115,896,548 (GRCm39)	T1436A	probably damaging	Het
Itk	T	A	11: 46,227,342 (GRCm39)	Q427L	probably benign	Het
Klhdc4	T	C	8: 122,526,266 (GRCm39)	E291G	probably damaging	Het
Map4	T	A	9: 109,881,887 (GRCm39)	S250R	possibly damaging	Het
Mnt	T	A	11: 74,727,285 (GRCm39)	V57E	possibly damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Mtcl2	T	C	2: 156,881,844 (GRCm39)	K736R	probably benign	Het
Musk	A	T	4: 58,301,625 (GRCm39)	I128F	probably damaging	Het
Myh4	G	A	11: 67,141,136 (GRCm39)	A733T	possibly damaging	Het
Myo5a	T	A	9: 75,043,670 (GRCm39)	F220I	probably damaging	Het
Npas3	A	G	12: 54,091,361 (GRCm39)	H305R	probably damaging	Het
Nrcam	A	T	12: 44,637,839 (GRCm39)	Y1132F	probably damaging	Het
Nt5c3b	A	C	11: 100,323,744 (GRCm39)	D189E	probably benign	Het
Nuf2	A	G	1: 169,333,683 (GRCm39)	L331P	probably damaging	Het
Nup214	C	T	2: 31,887,977 (GRCm39)	T646I	probably benign	Het
Or14j9	T	C	17: 37,875,076 (GRCm39)	N42S	probably damaging	Het
Pcdh18	T	C	3: 49,699,174 (GRCm39)	E1096G	probably damaging	Het
Pgm2	T	A	5: 64,265,070 (GRCm39)	F364I	probably benign	Het
Pikfyve	A	G	1: 65,273,421 (GRCm39)	N612S	probably damaging	Het
Pla2g4e	T	G	2: 120,016,863 (GRCm39)	H226P	possibly damaging	Het
Ppp3cb	T	C	14: 20,570,714 (GRCm39)	N339S	possibly damaging	Het
Prkd2	G	T	7: 16,577,573 (GRCm39)		probably benign	Het
Rnf133	T	C	6: 23,649,041 (GRCm39)	E296G	possibly damaging	Het
Sav1	A	T	12: 70,031,095 (GRCm39)	D142E	probably benign	Het
Scn3b	C	A	9: 40,199,719 (GRCm39)	P212T	probably damaging	Het
Sel1l	A	T	12: 91,799,827 (GRCm39)		probably null	Het
Septin9	A	G	11: 117,251,310 (GRCm39)	K543E	probably damaging	Het
Serpinb12	T	A	1: 106,876,883 (GRCm39)	D66E	probably benign	Het
Slc35e2	T	C	4: 155,702,106 (GRCm39)	F290S	probably benign	Het
Snrpa	A	G	7: 26,894,958 (GRCm39)	M1T	probably null	Het
Sptlc3	G	A	2: 139,478,600 (GRCm39)	V520I	probably benign	Het
Srpk3	A	G	X: 72,818,547 (GRCm39)	H79R	possibly damaging	Het
Stox2	A	G	8: 47,645,970 (GRCm39)	S497P	probably damaging	Het
Stradb	G	A	1: 59,032,731 (GRCm39)	S361N	probably damaging	Het
Sult3a2	T	C	10: 33,658,083 (GRCm39)	K10R	probably benign	Het
Susd4	A	G	1: 182,686,025 (GRCm39)	N192D	probably damaging	Het
Tcp10a	T	A	17: 7,593,374 (GRCm39)	D32E	probably benign	Het
Tdpoz4	T	A	3: 93,704,339 (GRCm39)	V212D	probably damaging	Het
Tdrd5	T	A	1: 156,111,944 (GRCm39)	T479S	probably benign	Het
Tex10	T	C	4: 48,452,946 (GRCm39)	D671G	probably benign	Het
Tex55	A	G	16: 38,648,380 (GRCm39)	V243A	probably benign	Het
Traj37	T	C	14: 54,418,996 (GRCm39)		probably benign	Het
Ttc7b	G	A	12: 100,466,376 (GRCm39)	R79C	probably damaging	Het
Vmn2r115	T	A	17: 23,565,373 (GRCm39)	L420Q	probably benign	Het
Wdr24	T	A	17: 26,047,181 (GRCm39)		probably null	Het
Wdr81	T	A	11: 75,336,484 (GRCm39)	Q516L	probably damaging	Het
Zfp516	A	G	18: 82,974,164 (GRCm39)	T121A	probably benign	Het
Zmat1	A	T	X: 133,873,694 (GRCm39)	S566T	probably damaging	Homo

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
R0396:Dgkb	UTSW	12	38,240,134 (GRCm39)	critical splice donor site	probably null
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
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'- GACAGACACTTTGTGATATGGC -3'
(R):5'- CCTGATAGGAAGTAGCTGTTAAGAC -3'

Sequencing Primer
(F):5'- GCACTGTAATTGACCACC -3'
(R):5'- GCTGTTAAGACTGTAAAATGAACTA -3'

Posted On

2015-09-25