Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01627:Dgkd'

92810

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 #

IGL01627

Quality Score

Status

Chromosome

Chromosomal Location

87781009-87872902 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87808150 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 73 (R73G)

Ref Sequence

ENSEMBL: ENSMUSP00000027517 (fasta)

Gene Model

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

AlphaFold

E9PUQ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000027517
AA Change: R73G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027517
Gene: ENSMUSG00000070738
AA Change: R73G

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

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra2	G	A	8: 27,608,761 (GRCm39)	A540T	possibly damaging	Het
Casp9	T	C	4: 141,532,853 (GRCm39)		probably benign	Het
Ccdc186	G	A	19: 56,780,452 (GRCm39)	T864I	probably damaging	Het
Cgas	A	T	9: 78,349,996 (GRCm39)	V57E	possibly damaging	Het
Chek1	T	A	9: 36,635,191 (GRCm39)	H64L	probably damaging	Het
Chsy3	T	C	18: 59,309,367 (GRCm39)	S207P	probably damaging	Het
Clec4n	A	G	6: 123,221,433 (GRCm39)		probably benign	Het
Col9a1	G	A	1: 24,218,689 (GRCm39)		probably null	Het
Dmbt1	A	T	7: 130,682,915 (GRCm39)	T562S	probably benign	Het
Epb42	T	C	2: 120,856,324 (GRCm39)	T407A	probably benign	Het
Eps8l3	A	G	3: 107,788,487 (GRCm39)	D58G	probably damaging	Het
Fuca1	A	T	4: 135,652,862 (GRCm39)	N162I	possibly damaging	Het
Gramd1a	T	C	7: 30,839,221 (GRCm39)	D229G	probably damaging	Het
Grin1	A	G	2: 25,208,709 (GRCm39)	S64P	probably damaging	Het
Hgd	T	G	16: 37,442,287 (GRCm39)	V243G	probably damaging	Het
Il23r	A	T	6: 67,400,412 (GRCm39)	N639K	probably benign	Het
Il33	A	G	19: 29,929,390 (GRCm39)	T38A	possibly damaging	Het
Mycbpap	T	C	11: 94,405,430 (GRCm39)	E33G	probably damaging	Het
Npas1	C	T	7: 16,199,111 (GRCm39)	G148D	probably damaging	Het
Ntan1	C	T	16: 13,652,603 (GRCm39)	T233M	probably benign	Het
Or6c5	A	T	10: 129,074,138 (GRCm39)	N40I	probably damaging	Het
Plscr1l1	A	T	9: 92,229,864 (GRCm39)	I23F	probably damaging	Het
Pou2f1	A	T	1: 165,708,002 (GRCm39)		probably benign	Het
Rims4	T	C	2: 163,706,022 (GRCm39)	Y204C	probably damaging	Het
Selp	A	G	1: 163,971,461 (GRCm39)		probably null	Het
Senp7	A	G	16: 55,992,219 (GRCm39)	E725G	probably damaging	Het
Snx31	A	T	15: 36,517,818 (GRCm39)	F366Y	probably damaging	Het
Spats2l	A	G	1: 57,941,241 (GRCm39)		probably benign	Het
Tssk4	T	C	14: 55,888,010 (GRCm39)	F69L	probably damaging	Het
Ugt3a1	T	C	15: 9,335,806 (GRCm39)	L9P	probably damaging	Het
Vmn2r76	A	T	7: 85,874,871 (GRCm39)	I702N	probably damaging	Het
Vps18	C	A	2: 119,127,672 (GRCm39)	R832S	probably benign	Het
Xpo6	A	G	7: 125,748,506 (GRCm39)	L375P	probably damaging	Het
Zfp462	C	A	4: 55,008,912 (GRCm39)	P293T	possibly damaging	Het
Zyg11b	T	C	4: 108,107,985 (GRCm39)	I474V	probably benign	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
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
IGL02581:Dgkd	APN	1	87,845,724 (GRCm39)	splice site	probably benign
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

2013-12-09