Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03174:Dgkb'

411952

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 #

IGL03174

Quality Score

Status

Chromosome

Chromosomal Location

37930169-38684238 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 38266053 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 511 (I511F)

Ref Sequence

ENSEMBL: ENSMUSP00000152378 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040500
AA Change: I511F

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000037900
Gene: ENSMUSG00000036095
AA Change: I511F

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

possibly damaging
Transcript: ENSMUST00000220990
AA Change: I511F

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	C	5: 8,877,752 (GRCm39)	L703P	probably benign	Het
Abi3bp	A	G	16: 56,435,110 (GRCm39)	K602R	possibly damaging	Het
Ank2	T	C	3: 126,733,744 (GRCm39)	D622G	probably damaging	Het
Bpifb1	T	A	2: 154,054,969 (GRCm39)	L287Q	probably damaging	Het
Brd8	T	C	18: 34,737,962 (GRCm39)	E774G	probably damaging	Het
Cnot1	A	G	8: 96,487,983 (GRCm39)	S558P	probably damaging	Het
Col15a1	T	C	4: 47,282,666 (GRCm39)	I781T	probably damaging	Het
Cyp2j7	T	A	4: 96,083,607 (GRCm39)	R448*	probably null	Het
Fam221b	T	C	4: 43,666,542 (GRCm39)	E23G	probably benign	Het
Gm17067	C	A	7: 42,360,100 (GRCm39)		probably null	Het
Grin3a	T	A	4: 49,771,107 (GRCm39)	D555V	probably damaging	Het
Hid1	T	C	11: 115,251,215 (GRCm39)	Y107C	probably damaging	Het
Kcnd2	A	G	6: 21,216,515 (GRCm39)	D73G	possibly damaging	Het
Kit	A	G	5: 75,767,773 (GRCm39)	D52G	probably benign	Het
Llgl1	G	T	11: 60,597,036 (GRCm39)	R189L	probably benign	Het
Lrp2	T	A	2: 69,296,609 (GRCm39)	D3315V	probably damaging	Het
Map3k8	A	G	18: 4,349,247 (GRCm39)	S24P	probably damaging	Het
Nckap5	A	G	1: 125,909,383 (GRCm39)	L1616P	probably damaging	Het
Nrcam	A	G	12: 44,622,789 (GRCm39)		probably benign	Het
Or2d2b	A	T	7: 106,705,477 (GRCm39)	M197K	probably benign	Het
Or5b119	A	G	19: 13,457,433 (GRCm39)	M43T	probably benign	Het
Polr1a	G	A	6: 71,954,331 (GRCm39)	R1595H	possibly damaging	Het
Pramel29	C	T	4: 143,935,000 (GRCm39)	S247N	probably benign	Het
Rusc1	T	C	3: 88,999,077 (GRCm39)	D235G	probably damaging	Het
Serpinb6e	A	T	13: 34,020,463 (GRCm39)	I215N	probably damaging	Het
Sfrp4	A	T	13: 19,816,377 (GRCm39)	Q137L	probably benign	Het
Spata31g1	T	C	4: 42,970,975 (GRCm39)	Y67H	probably benign	Het
Vmn2r2	C	T	3: 64,024,544 (GRCm39)	W679*	probably null	Het
Vps8	T	A	16: 21,285,213 (GRCm39)	L398H	probably damaging	Het
Zfp709	A	T	8: 72,642,870 (GRCm39)	T99S	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
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
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

2016-08-02