Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00792:Dgkb'

13410

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dgkb

Ensembl Gene

ENSMUSG00000036095

Gene Name

diacylglycerol kinase, beta

Synonyms

C630029D13Rik, DGK-beta

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

IGL00792

Quality Score

Status

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 38264388 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

Coding Region Coverage

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	A	G	16: 14,228,790 (GRCm39)	I346V	probably benign	Het
Actl7a	A	T	4: 56,743,944 (GRCm39)	Y157F	possibly damaging	Het
Adcy9	A	G	16: 4,106,403 (GRCm39)	F904L	probably damaging	Het
Ap1m1	A	G	8: 73,009,599 (GRCm39)	D369G	possibly damaging	Het
Atp23	A	T	10: 126,736,969 (GRCm39)		probably null	Het
Atp5pd	A	G	11: 115,308,675 (GRCm39)		probably null	Het
Btf3l4	G	A	4: 108,674,056 (GRCm39)	S153L	probably benign	Het
Carf	G	T	1: 60,165,168 (GRCm39)	V117L	possibly damaging	Het
Cntnap1	C	A	11: 101,069,792 (GRCm39)	N290K	probably benign	Het
Dmbt1	T	A	7: 130,699,337 (GRCm39)	C989S	possibly damaging	Het
Epb41l1	C	T	2: 156,366,939 (GRCm39)	R591C	probably damaging	Het
Fam219a	A	G	4: 41,521,684 (GRCm39)	V74A	probably benign	Het
Frrs1	T	A	3: 116,678,944 (GRCm39)		probably null	Het
Gm13547	A	T	2: 29,653,417 (GRCm39)	D85V	probably damaging	Het
Hipk1	G	T	3: 103,685,476 (GRCm39)	S46R	possibly damaging	Het
Ifih1	T	A	2: 62,476,214 (GRCm39)	R21W	probably damaging	Het
Ift43	A	T	12: 86,186,840 (GRCm39)	Q87L	probably null	Het
Itprid2	C	T	2: 79,487,807 (GRCm39)	A630V	probably benign	Het
Kcnn1	G	A	8: 71,307,360 (GRCm39)	L178F	probably benign	Het
Kel	G	T	6: 41,678,946 (GRCm39)	N172K	probably damaging	Het
Krtap3-2	A	T	11: 99,447,372 (GRCm39)	Y85*	probably null	Het
Lrrc49	A	G	9: 60,595,121 (GRCm39)	S8P	probably damaging	Het
Med23	T	C	10: 24,752,902 (GRCm39)	I20T	possibly damaging	Het
Pde4d	A	G	13: 110,071,929 (GRCm39)	K364E	possibly damaging	Het
Ppp2r3d	T	C	9: 101,088,500 (GRCm39)	K608E	possibly damaging	Het
Robo4	C	T	9: 37,319,507 (GRCm39)	L586F	probably damaging	Het
Rprd2	A	G	3: 95,692,416 (GRCm39)	S191P	probably benign	Het
Samhd1	A	T	2: 156,962,468 (GRCm39)	H242Q	probably damaging	Het
Slc30a9	T	A	5: 67,499,452 (GRCm39)	N283K	probably damaging	Het
Slc4a9	T	C	18: 36,672,649 (GRCm39)		probably benign	Het
Stk36	G	T	1: 74,650,276 (GRCm39)	L269F	probably benign	Het
Thop1	T	A	10: 80,914,433 (GRCm39)	L240*	probably null	Het
Tmem52b	T	A	6: 129,493,704 (GRCm39)	S106T	probably damaging	Het
Ttn	T	A	2: 76,555,970 (GRCm39)	D30345V	probably damaging	Het
Vtcn1	T	C	3: 100,795,663 (GRCm39)	V210A	probably damaging	Het
Zfp568	A	G	7: 29,714,497 (GRCm39)	R124G	probably benign	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
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
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

Posted On

2012-12-06