Mutagenetix > Incidental Mutations

Incidental Mutation 'R6198:Dgkb'

503055

Institutional Source

Beutler Lab

Gene Symbol

Dgkb

Ensembl Gene

ENSMUSG00000036095

Gene Name

diacylglycerol kinase, beta

Synonyms

C630029D13Rik, DGK-beta

MMRRC Submission

044338-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.218) question?

Stock #

R6198 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37817726-38634239 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 38173823 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 414 (M414L)

Ref Sequence

ENSEMBL: ENSMUSP00000152378 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000040500
AA Change: M414L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000037900
Gene: ENSMUSG00000036095
AA Change: M414L

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 benign
Transcript: ENSMUST00000220990
AA Change: M414L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221098

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221540

Coding Region Coverage

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

Validation Efficiency

99% (68/69)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	T	3: 124,416,850		probably null	Het
1700061G19Rik	A	G	17: 56,882,679	S265G	probably damaging	Het
2610318N02Rik	A	G	16: 17,118,369	S164P	probably damaging	Het
Acyp2	C	T	11: 30,506,354	E98K	possibly damaging	Het
Adam19	A	C	11: 46,121,502	N275T	probably damaging	Het
Adgrg7	T	A	16: 56,777,193	T84S	possibly damaging	Het
Asl	C	T	5: 130,018,916	V70I	probably benign	Het
Atp2c1	A	G	9: 105,521,072	S26P	probably benign	Het
Bcas3	A	T	11: 85,509,435	D410V	probably damaging	Het
Cc2d1b	C	T	4: 108,633,225	R825W	probably damaging	Het
Ccdc15	A	C	9: 37,314,285		probably null	Het
Cfh	A	G	1: 140,105,440	S789P	probably damaging	Het
Cltc	T	C	11: 86,720,362	N561S	probably benign	Het
Cnst	A	G	1: 179,592,865	Q187R	probably damaging	Het
Csmd3	T	C	15: 48,313,877	T422A	probably benign	Het
Cyp2c55	A	T	19: 39,007,121	R26*	probably null	Het
Dgkd	A	G	1: 87,924,208	D444G	probably damaging	Het
Dnmt3c	T	C	2: 153,720,009	V544A	noncoding transcript	Het
Dus3l	A	T	17: 56,767,858	T327S	possibly damaging	Het
Elf2	A	T	3: 51,277,249	L5Q	probably damaging	Het
Fam69b	A	G	2: 26,635,698	K215E	probably damaging	Het
Fxyd6	A	G	9: 45,390,670	Y30C	probably damaging	Het
Gcc2	A	T	10: 58,292,590	T1375S	probably benign	Het
Git2	A	T	5: 114,745,495	Y393*	probably null	Het
Gm14403	AAACCCTA	AA	2: 177,509,655		probably benign	Het
Gm9573	T	A	17: 35,620,916		probably benign	Het
Golgb1	T	C	16: 36,893,395	L246P	probably damaging	Het
Grp	G	T	18: 65,879,986	Q74H	possibly damaging	Het
Ifi203	A	T	1: 173,924,082	M391K	probably damaging	Het
Itih2	A	G	2: 10,098,541	Y712H	probably benign	Het
Kdm5a	T	A	6: 120,438,997	V1626E	probably benign	Het
Klhl40	A	G	9: 121,778,767	Y331C	probably damaging	Het
Kprp	T	A	3: 92,824,687	Y352F	probably damaging	Het
Lama2	G	T	10: 27,188,022	H1286Q	probably damaging	Het
Lgi4	T	A	7: 31,069,122		probably null	Het
Lrrc47	A	T	4: 154,015,672	N235I	probably damaging	Het
Lrrc74b	T	A	16: 17,548,786	I308F	probably damaging	Het
Map7d1	T	A	4: 126,241,843	K135M	probably damaging	Het
March5	A	G	19: 37,210,741	R36G	probably damaging	Het
Mtx3	C	A	13: 92,852,851	P299Q	probably benign	Het
Ncapd2	C	A	6: 125,179,323	E500*	probably null	Het
Nckap5l	T	C	15: 99,425,988	K878R	probably damaging	Het
Nphs1	T	C	7: 30,467,915	I756T	probably damaging	Het
Olfm4	T	G	14: 80,000,373	S17A	probably benign	Het
Olfr1270	A	T	2: 90,149,438	D189E	probably damaging	Het
Olfr344	A	G	2: 36,568,951	M118V	probably damaging	Het
Pak1ip1	G	T	13: 41,001,410	Q27H	probably benign	Het
Piezo2	A	T	18: 63,157,210	C159*	probably null	Het
Pkn2	G	T	3: 142,810,404	T538K	probably benign	Het
Ppp3cc	A	T	14: 70,247,611	M198K	probably benign	Het
Rrm1	T	G	7: 102,446,729		probably null	Het
Setd3	T	C	12: 108,165,168	K7E	possibly damaging	Het
Shc1	A	G	3: 89,422,107	K86R	probably benign	Het
Slc16a7	T	C	10: 125,228,215	T418A	probably benign	Het
Spocd1	C	T	4: 129,955,415	P676S	probably damaging	Het
Spp1	A	G	5: 104,439,508		probably null	Het
Syne1	A	G	10: 5,302,269	Y2462H	probably damaging	Het
Tiam2	T	C	17: 3,414,121	S42P	probably benign	Het
Tmem63b	C	T	17: 45,661,516	V722I	probably benign	Het
Ubqln1	A	G	13: 58,196,590	S130P	probably benign	Het
Usp34	G	T	11: 23,484,127	L3215F	probably damaging	Het
Uvssa	A	G	5: 33,409,510	Y517C	probably damaging	Het
Vps13d	A	T	4: 145,148,990	F1649Y	probably benign	Het
Zfp236	A	G	18: 82,657,153	S405P	probably damaging	Het
Zfp9	T	C	6: 118,477,321	M1V	probably null	Het
Zfp946	A	T	17: 22,454,915	S217C	probably damaging	Het
Zfp970	T	A	2: 177,475,460	C276S	probably damaging	Het
Zswim5	T	A	4: 116,878,007	F183Y	probably benign	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
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
R7968: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
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'- TGGGCCTCAGTTTATAATCTTAGAG -3'
(R):5'- GACCCATACAAAGTTTGTGCATG -3'

Sequencing Primer
(F):5'- AAGACTTCCTCTAACAACCATTTCTG -3'
(R):5'- AGTTTGTGCATGTATGTAAGTGAAC -3'

Posted On

2018-02-27