Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02581:Dgkd'

299360

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dgkd

Ensembl Gene

ENSMUSG00000070738

Gene Name

diacylglycerol kinase, delta

Synonyms

dgkd-2, DGKdelta

Accession Numbers

Essential gene?

Probably essential (E-score: 0.845) question?

Stock #

IGL02581

Quality Score

Status

Chromosome

Chromosomal Location

87781009-87872902 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 87845724 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000027517 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027517]

AlphaFold

E9PUQ8

Predicted Effect

probably benign
Transcript: ENSMUST00000027517

SMART Domains

Protein: ENSMUSP00000027517
Gene: ENSMUSG00000070738

Domain	Start	End	E-Value	Type
low complexity region	2	36	N/A	INTRINSIC
PH	54	148	1.7e-16	SMART
C1	164	213	2.48e-15	SMART
low complexity region	221	232	N/A	INTRINSIC
C1	236	286	8.56e-10	SMART
DAGKc	321	446	9.44e-62	SMART
low complexity region	691	710	N/A	INTRINSIC
DAGKa	765	922	1.25e-98	SMART
low complexity region	1128	1139	N/A	INTRINSIC
SAM	1148	1214	2.16e-22	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190243

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191589

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytoplasmic enzyme that phosphorylates diacylglycerol to produce phosphatidic acid. Diacylglycerol and phosphatidic acid are two lipids that act as second messengers in signaling cascades. Their cellular concentrations are regulated by the encoded protein, and so it is thought to play an important role in cellular signal transduction. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele are born with open eyelids and reduced body size, develop respiratory distress and die within 24 hrs of birth. Half of mice homozygous for a hypomorphic gene trap allele exhibit abnormal epileptic discharges and seizureswhile 9% of aging homozygotes develop tumors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034H15Rik	A	G	1: 191,635,652 (GRCm39)		probably benign	Het
Abca13	C	T	11: 9,349,132 (GRCm39)		probably benign	Het
Aga	T	C	8: 53,974,079 (GRCm39)		probably benign	Het
Atp2a3	C	A	11: 72,866,165 (GRCm39)	H262N	probably benign	Het
C1rl	T	C	6: 124,470,113 (GRCm39)	S2P	possibly damaging	Het
Cstdc5	T	C	16: 36,179,860 (GRCm39)	T86A	probably damaging	Het
Dnajb11	A	G	16: 22,689,768 (GRCm39)	N311D	probably benign	Het
Flg2	A	C	3: 93,127,199 (GRCm39)	Q2037P	unknown	Het
Glyctk	T	C	9: 106,034,980 (GRCm39)	T29A	probably benign	Het
Gtf3c1	C	A	7: 125,245,687 (GRCm39)	R1672L	possibly damaging	Het
Hps3	A	T	3: 20,057,385 (GRCm39)		probably benign	Het
Kcnh3	G	T	15: 99,136,052 (GRCm39)	C683F	possibly damaging	Het
Lmtk2	T	G	5: 144,085,166 (GRCm39)	F213V	probably damaging	Het
Malrd1	C	A	2: 16,147,123 (GRCm39)	C1988*	probably null	Het
Map3k11	T	A	19: 5,750,834 (GRCm39)	M684K	probably benign	Het
Oga	T	A	19: 45,740,630 (GRCm39)	M902L	possibly damaging	Het
Pip5k1c	C	A	10: 81,153,155 (GRCm39)		probably null	Het
Plekhh1	T	C	12: 79,125,882 (GRCm39)		probably null	Het
Rev3l	C	A	10: 39,697,277 (GRCm39)	N591K	probably benign	Het
Rrp9	T	A	9: 106,360,827 (GRCm39)	N269K	probably damaging	Het
Sec14l4	T	C	11: 3,989,941 (GRCm39)	I80T	possibly damaging	Het
Srpra	G	A	9: 35,126,328 (GRCm39)		probably null	Het
Tmc8	G	A	11: 117,674,714 (GRCm39)	R143H	probably benign	Het
Trank1	T	C	9: 111,212,193 (GRCm39)	I1777T	probably benign	Het
Trim17	C	A	11: 58,861,902 (GRCm39)	Y311*	probably null	Het
Vps13a	C	T	19: 16,632,686 (GRCm39)	A2557T	probably benign	Het
Vps53	T	G	11: 75,992,883 (GRCm39)	N106T	probably damaging	Het

Other mutations in Dgkd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01529:Dgkd	APN	1	87,808,133 (GRCm39)	missense	probably damaging	1.00
IGL01531:Dgkd	APN	1	87,808,133 (GRCm39)	missense	probably damaging	1.00
IGL01627:Dgkd	APN	1	87,808,150 (GRCm39)	missense	probably damaging	1.00
IGL01720:Dgkd	APN	1	87,864,487 (GRCm39)	missense	probably damaging	1.00
IGL01915:Dgkd	APN	1	87,853,780 (GRCm39)	missense	possibly damaging	0.86
IGL01941:Dgkd	APN	1	87,852,281 (GRCm39)	missense	probably damaging	0.99
IGL01951:Dgkd	APN	1	87,844,638 (GRCm39)	missense	probably damaging	1.00
IGL02244:Dgkd	APN	1	87,842,863 (GRCm39)	missense	probably benign	0.27
IGL02852:Dgkd	APN	1	87,863,135 (GRCm39)	missense	probably damaging	1.00
IGL02893:Dgkd	APN	1	87,842,930 (GRCm39)	splice site	probably benign
IGL03367:Dgkd	APN	1	87,868,030 (GRCm39)	critical splice donor site	probably null
R0014:Dgkd	UTSW	1	87,809,603 (GRCm39)	missense	probably damaging	1.00
R0016:Dgkd	UTSW	1	87,845,674 (GRCm39)	missense	probably benign	0.02
R0219:Dgkd	UTSW	1	87,865,996 (GRCm39)	splice site	probably benign
R0496:Dgkd	UTSW	1	87,864,622 (GRCm39)	missense	probably null	0.83
R0559:Dgkd	UTSW	1	87,842,826 (GRCm39)	missense	probably damaging	1.00
R0591:Dgkd	UTSW	1	87,842,826 (GRCm39)	missense	probably damaging	1.00
R1270:Dgkd	UTSW	1	87,861,847 (GRCm39)	missense	probably damaging	0.96
R1599:Dgkd	UTSW	1	87,809,608 (GRCm39)	missense	possibly damaging	0.58
R1658:Dgkd	UTSW	1	87,853,990 (GRCm39)	missense	probably damaging	1.00
R1745:Dgkd	UTSW	1	87,859,766 (GRCm39)	critical splice donor site	probably null
R1959:Dgkd	UTSW	1	87,857,549 (GRCm39)	missense	possibly damaging	0.47
R1960:Dgkd	UTSW	1	87,857,549 (GRCm39)	missense	possibly damaging	0.47
R2044:Dgkd	UTSW	1	87,855,413 (GRCm39)	missense	probably benign
R2148:Dgkd	UTSW	1	87,809,643 (GRCm39)	missense	probably damaging	1.00
R2232:Dgkd	UTSW	1	87,857,464 (GRCm39)	missense	probably benign	0.05
R2266:Dgkd	UTSW	1	87,855,540 (GRCm39)	unclassified	probably benign
R3774:Dgkd	UTSW	1	87,864,022 (GRCm39)	missense	probably damaging	1.00
R4004:Dgkd	UTSW	1	87,863,145 (GRCm39)	missense	possibly damaging	0.56
R4005:Dgkd	UTSW	1	87,863,145 (GRCm39)	missense	possibly damaging	0.56
R4133:Dgkd	UTSW	1	87,869,223 (GRCm39)	critical splice donor site	probably null
R4235:Dgkd	UTSW	1	87,859,704 (GRCm39)	nonsense	probably null
R4644:Dgkd	UTSW	1	87,864,016 (GRCm39)	missense	probably damaging	1.00
R4747:Dgkd	UTSW	1	87,861,889 (GRCm39)	missense	probably damaging	1.00
R4864:Dgkd	UTSW	1	87,844,560 (GRCm39)	missense	possibly damaging	0.94
R5334:Dgkd	UTSW	1	87,865,989 (GRCm39)	critical splice donor site	probably null
R5365:Dgkd	UTSW	1	87,863,138 (GRCm39)	missense	probably damaging	1.00
R5495:Dgkd	UTSW	1	87,854,594 (GRCm39)	missense	probably damaging	1.00
R5514:Dgkd	UTSW	1	87,861,832 (GRCm39)	missense	probably damaging	1.00
R5729:Dgkd	UTSW	1	87,864,054 (GRCm39)	nonsense	probably null
R5766:Dgkd	UTSW	1	87,808,171 (GRCm39)	nonsense	probably null
R6133:Dgkd	UTSW	1	87,865,962 (GRCm39)	missense	possibly damaging	0.93
R6137:Dgkd	UTSW	1	87,864,103 (GRCm39)	missense	possibly damaging	0.48
R6198:Dgkd	UTSW	1	87,851,930 (GRCm39)	missense	probably damaging	1.00
R6297:Dgkd	UTSW	1	87,853,866 (GRCm39)	missense	possibly damaging	0.94
R6577:Dgkd	UTSW	1	87,867,962 (GRCm39)	missense	probably damaging	1.00
R6846:Dgkd	UTSW	1	87,853,413 (GRCm39)	splice site	probably null
R6905:Dgkd	UTSW	1	87,863,097 (GRCm39)	missense	probably damaging	1.00
R7369:Dgkd	UTSW	1	87,849,344 (GRCm39)	missense	probably damaging	1.00
R7763:Dgkd	UTSW	1	87,854,671 (GRCm39)	missense	probably benign
R7921:Dgkd	UTSW	1	87,851,806 (GRCm39)	missense	probably damaging	0.98
R8087:Dgkd	UTSW	1	87,844,569 (GRCm39)	missense	probably damaging	1.00
R8119:Dgkd	UTSW	1	87,845,689 (GRCm39)	missense	possibly damaging	0.78
R8731:Dgkd	UTSW	1	87,844,535 (GRCm39)	missense	possibly damaging	0.81
R8813:Dgkd	UTSW	1	87,843,266 (GRCm39)	missense	probably damaging	0.99
R8849:Dgkd	UTSW	1	87,846,365 (GRCm39)	missense	probably damaging	0.99
R8906:Dgkd	UTSW	1	87,869,157 (GRCm39)	missense	probably damaging	0.97
R9496:Dgkd	UTSW	1	87,857,464 (GRCm39)	missense	probably benign	0.05
R9743:Dgkd	UTSW	1	87,861,850 (GRCm39)	missense
Z1176:Dgkd	UTSW	1	87,855,532 (GRCm39)	missense	probably benign	0.05
Z1177:Dgkd	UTSW	1	87,844,608 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16