Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03198:Dgkb'

412892

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 #

IGL03198

Quality Score

Status

Chromosome

Chromosomal Location

37930169-38684238 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38186615 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 262 (N262D)

Ref Sequence

ENSEMBL: ENSMUSP00000152446 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040500] [ENSMUST00000220990] [ENSMUST00000221176]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040500
AA Change: N255D

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000037900
Gene: ENSMUSG00000036095
AA Change: N255D

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

possibly damaging
Transcript: ENSMUST00000220990
AA Change: N255D

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221098

Predicted Effect

probably damaging
Transcript: ENSMUST00000221176
AA Change: N262D

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adhfe1	A	T	1: 9,620,177 (GRCm39)		probably benign	Het
Atp6v0a2	T	C	5: 124,789,425 (GRCm39)		probably null	Het
Brca1	G	T	11: 101,403,537 (GRCm39)		probably benign	Het
Cd55	A	T	1: 130,368,108 (GRCm39)	C372S	probably benign	Het
Clip2	A	T	5: 134,526,936 (GRCm39)		probably benign	Het
Fam227b	C	T	2: 125,966,499 (GRCm39)		probably null	Het
Foxj2	G	A	6: 122,809,966 (GRCm39)		probably null	Het
Gm4297	T	A	X: 24,418,810 (GRCm39)		probably benign	Het
Grik3	A	G	4: 125,553,555 (GRCm39)	D429G	probably benign	Het
Hcfc1	T	C	X: 72,994,935 (GRCm39)	I924V	possibly damaging	Het
Lrrk1	A	G	7: 65,956,642 (GRCm39)	V411A	probably damaging	Het
Mdh1	A	T	11: 21,514,168 (GRCm39)	V83E	probably damaging	Het
Pa2g4	A	G	10: 128,401,647 (GRCm39)	V17A	probably damaging	Het
Podnl1	G	A	8: 84,858,818 (GRCm39)	V548I	probably benign	Het
Polg	A	G	7: 79,101,470 (GRCm39)	V1079A	probably damaging	Het
Polr2a	G	T	11: 69,638,107 (GRCm39)		probably null	Het
Ptk2	C	T	15: 73,108,065 (GRCm39)	S722N	probably damaging	Het
Rock2	A	G	12: 17,025,508 (GRCm39)	D1243G	probably benign	Het
Sirt4	T	C	5: 115,621,061 (GRCm39)	D37G	probably benign	Het
Slc35d1	T	C	4: 103,042,085 (GRCm39)	Y249C	probably damaging	Het
Snrnp27	A	T	6: 86,659,968 (GRCm39)		probably null	Het
Srek1	T	C	13: 103,881,443 (GRCm39)		probably null	Het
Sspo	A	T	6: 48,454,516 (GRCm39)	I2951F	probably benign	Het
Stxbp3	A	G	3: 108,734,405 (GRCm39)	F40L	probably damaging	Het
Sympk	T	C	7: 18,778,921 (GRCm39)	V604A	possibly damaging	Het
Tbc1d2b	T	C	9: 90,104,510 (GRCm39)	Y544C	probably damaging	Het
Tnpo2	C	T	8: 85,778,347 (GRCm39)	T592I	possibly damaging	Het
Txndc16	T	C	14: 45,388,941 (GRCm39)		probably benign	Het
Ubr5	A	T	15: 38,045,964 (GRCm39)	L120Q	probably damaging	Het
Wdfy4	A	T	14: 32,847,844 (GRCm39)	M836K	probably damaging	Het
Wdr48	A	G	9: 119,741,479 (GRCm39)	N141S	probably benign	Het
Zc3h7a	A	T	16: 10,980,528 (GRCm39)	Y28*	probably null	Het
Zfp423	T	C	8: 88,508,304 (GRCm39)	D659G	possibly 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
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

2016-08-02