Mutagenetix > Incidental Mutation

Incidental Mutation 'R7709:Dgkz'

594437

Institutional Source

Beutler Lab

Gene Symbol

Dgkz

Ensembl Gene

ENSMUSG00000040479

Gene Name

diacylglycerol kinase zeta

Synonyms

mDGK[z], E130307B02Rik

MMRRC Submission

045768-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7709 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

91763169-91806209 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 91767404 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 863 (E863G)

Ref Sequence

ENSEMBL: ENSMUSP00000106934 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028667] [ENSMUST00000028672] [ENSMUST00000099709] [ENSMUST00000111303] [ENSMUST00000128152] [ENSMUST00000142090] [ENSMUST00000142231]

AlphaFold

Q80UP3

Predicted Effect

probably benign
Transcript: ENSMUST00000028667
AA Change: E669G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000028667
Gene: ENSMUSG00000040479
AA Change: E669G

Domain	Start	End	E-Value	Type
low complexity region	3	30	N/A	INTRINSIC
low complexity region	66	75	N/A	INTRINSIC
C1	96	153	2.67e-1	SMART
C1	173	231	8.18e-7	SMART
low complexity region	257	274	N/A	INTRINSIC
DAGKc	296	420	4.61e-65	SMART
DAGKa	447	604	2.75e-95	SMART
low complexity region	762	780	N/A	INTRINSIC
ANK	823	853	8.52e-4	SMART
ANK	858	887	2.18e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000028672

SMART Domains

Protein: ENSMUSP00000028672
Gene: ENSMUSG00000027239

Domain	Start	End	E-Value	Type
low complexity region	8	30	N/A	INTRINSIC
PTN	34	113	4.2e-53	SMART
low complexity region	120	139	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000099709
AA Change: E686G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000106937
Gene: ENSMUSG00000040479
AA Change: E686G

Domain	Start	End	E-Value	Type
low complexity region	2	38	N/A	INTRINSIC
low complexity region	83	92	N/A	INTRINSIC
C1	113	170	2.67e-1	SMART
C1	190	248	8.18e-7	SMART
low complexity region	274	291	N/A	INTRINSIC
DAGKc	313	437	4.61e-65	SMART
DAGKa	464	621	2.75e-95	SMART
low complexity region	779	797	N/A	INTRINSIC
ANK	840	870	8.52e-4	SMART
ANK	875	904	2.18e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111303
AA Change: E863G

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000106934
Gene: ENSMUSG00000040479
AA Change: E863G

Domain	Start	End	E-Value	Type
low complexity region	39	58	N/A	INTRINSIC
low complexity region	66	81	N/A	INTRINSIC
low complexity region	100	113	N/A	INTRINSIC
low complexity region	118	133	N/A	INTRINSIC
low complexity region	200	214	N/A	INTRINSIC
low complexity region	260	269	N/A	INTRINSIC
C1	290	347	2.67e-1	SMART
C1	367	425	8.18e-7	SMART
low complexity region	451	468	N/A	INTRINSIC
DAGKc	490	614	4.61e-65	SMART
DAGKa	641	798	2.75e-95	SMART
low complexity region	956	974	N/A	INTRINSIC
ANK	1017	1047	8.52e-4	SMART
ANK	1052	1081	2.18e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000128152

SMART Domains

Protein: ENSMUSP00000118684
Gene: ENSMUSG00000040479

Domain	Start	End	E-Value	Type
low complexity region	32	41	N/A	INTRINSIC
Blast:C1	62	114	9e-33	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000142090

Predicted Effect

probably benign
Transcript: ENSMUST00000142231

SMART Domains

Protein: ENSMUSP00000114740
Gene: ENSMUSG00000040479

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the eukaryotic diacylglycerol kinase family. It may attenuate protein kinase C activity by regulating diacylglycerol levels in intracellular signaling cascade and signal transduction. Alternative splicing occurs at this locus and multiple transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Nov 2010]
PHENOTYPE: The T cell response is enhanced in homozygous mutant mice, which showed a robust response to viral infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	G	3: 124,201,334 (GRCm39)	I443T	probably damaging	Het
2310002L09Rik	A	G	4: 73,861,091 (GRCm39)	C170R	possibly damaging	Het
4933415A04Rik	GTGTGTGTGTATGTGTGTGT	GTGTGTGTGT	11: 43,478,237 (GRCm39)		probably null	Het
A2m	A	C	6: 121,637,063 (GRCm39)	T809P	possibly damaging	Het
Abca12	T	C	1: 71,374,887 (GRCm39)	D340G	probably benign	Het
Abcg8	A	T	17: 84,999,919 (GRCm39)	D191V	probably damaging	Het
Acan	G	T	7: 78,739,356 (GRCm39)	V255F	probably damaging	Het
Ace	G	A	11: 105,879,663 (GRCm39)	V1248I	probably benign	Het
Adgre1	A	T	17: 57,709,519 (GRCm39)	Q87L	unknown	Het
Adgrl1	G	A	8: 84,665,617 (GRCm39)	V1435M	probably benign	Het
Ano8	T	C	8: 71,934,933 (GRCm39)	D423G	probably damaging	Het
Aox3	T	C	1: 58,219,810 (GRCm39)	Y1137H	probably damaging	Het
Arl5a	T	C	2: 52,295,068 (GRCm39)	D114G	probably benign	Het
B3galt9	T	G	2: 34,728,437 (GRCm39)	C79G	probably damaging	Het
Baiap2l2	G	T	15: 79,143,911 (GRCm39)	N394K	probably benign	Het
Cap1	A	T	4: 122,756,467 (GRCm39)	C355S	probably damaging	Het
Ccdc25	A	T	14: 66,077,933 (GRCm39)	D22V	probably damaging	Het
Ceacam2	T	C	7: 25,238,076 (GRCm39)	D116G	probably damaging	Het
Clec4b2	A	G	6: 123,149,974 (GRCm39)		probably benign	Het
CN725425	C	A	15: 91,124,930 (GRCm39)	R157S	probably benign	Het
Coq8b	T	C	7: 26,949,962 (GRCm39)	I347T	probably damaging	Het
Ctbp2	C	A	7: 132,591,789 (GRCm39)	V338L	probably benign	Het
Cyp2d22	A	G	15: 82,258,612 (GRCm39)	V83A	possibly damaging	Het
Daam1	G	A	12: 72,024,423 (GRCm39)	R797H	probably benign	Het
Dab1	C	A	4: 104,577,756 (GRCm39)	S275*	probably null	Het
Dhx34	G	A	7: 15,946,789 (GRCm39)	A515V	possibly damaging	Het
Dnah14	T	C	1: 181,530,049 (GRCm39)		probably null	Het
Dnmt3b	C	A	2: 153,514,140 (GRCm39)	N384K	probably benign	Het
Dock5	A	G	14: 68,033,454 (GRCm39)	Y972H	probably benign	Het
Etv5	A	T	16: 22,231,597 (GRCm39)	Y138*	probably null	Het
Fdps	A	G	3: 89,008,397 (GRCm39)	S4P	probably damaging	Het
Gart	A	G	16: 91,419,853 (GRCm39)	F885L	possibly damaging	Het
Gm32687	A	T	10: 81,715,328 (GRCm39)	H240L	probably damaging	Het
Gm4553	C	T	7: 141,719,384 (GRCm39)	G15R	unknown	Het
Gm572	C	T	4: 148,753,408 (GRCm39)	T351M	probably damaging	Het
Gpr3	A	T	4: 132,937,748 (GRCm39)	L308Q	probably damaging	Het
Gpsm2	A	G	3: 108,609,097 (GRCm39)	V174A	probably benign	Het
Gucy1a1	T	C	3: 82,002,096 (GRCm39)	H661R	unknown	Het
Heatr4	A	T	12: 84,004,499 (GRCm39)	M774K	probably damaging	Het
Hmgcr	A	G	13: 96,799,605 (GRCm39)	I163T	possibly damaging	Het
Ift81	C	T	5: 122,747,394 (GRCm39)	V91M	probably damaging	Het
Igsf10	G	T	3: 59,238,964 (GRCm39)	Q406K	probably damaging	Het
Il10ra	A	G	9: 45,171,697 (GRCm39)	V257A	probably benign	Het
Ina	A	T	19: 47,012,082 (GRCm39)	K500I		Het
Lce1i	A	T	3: 92,685,066 (GRCm39)	C37S	unknown	Het
Lrrc59	A	T	11: 94,525,811 (GRCm39)	D133V	probably damaging	Het
Magi3	A	G	3: 103,941,354 (GRCm39)	I867T	probably damaging	Het
Mmaa	T	A	8: 79,995,830 (GRCm39)	R298W	probably damaging	Het
Mon1a	G	T	9: 107,777,327 (GRCm39)	V77F	probably benign	Het
Mrc2	A	G	11: 105,237,285 (GRCm39)	T1030A	probably benign	Het
Mrps27	T	A	13: 99,541,504 (GRCm39)	S162T	probably benign	Het
Mtmr12	T	A	15: 12,245,097 (GRCm39)	M204K	probably damaging	Het
Mtus1	A	G	8: 41,507,687 (GRCm39)	I21T	possibly damaging	Het
Myh2	T	C	11: 67,085,690 (GRCm39)	V1844A	probably benign	Het
Myh7	C	G	14: 55,226,258 (GRCm39)	D461H	probably damaging	Het
Nbr1	T	G	11: 101,447,067 (GRCm39)	F18V	probably damaging	Het
Npy2r	T	C	3: 82,447,689 (GRCm39)	N362S	probably benign	Het
Ocln	T	A	13: 100,676,106 (GRCm39)	Y129F	probably damaging	Het
Or2t1	T	C	14: 14,328,384 (GRCm38)	I91T	probably damaging	Het
Or4c10	T	C	2: 89,760,225 (GRCm39)	I24T	probably benign	Het
Or8c20	A	G	9: 38,260,573 (GRCm39)	M59V	probably benign	Het
Pik3c2b	T	G	1: 133,007,579 (GRCm39)		probably null	Het
Prss39	A	G	1: 34,541,709 (GRCm39)	D262G	probably damaging	Het
Ptk7	T	A	17: 46,882,569 (GRCm39)	D886V	possibly damaging	Het
Ptprg	T	A	14: 12,226,452 (GRCm38)	D1348E	probably damaging	Het
Rabgap1	T	C	2: 37,427,339 (GRCm39)	I640T	possibly damaging	Het
Rogdi	A	G	16: 4,827,098 (GRCm39)	Y303H	probably damaging	Het
Rps6kb1	A	T	11: 86,404,148 (GRCm39)	M283K	probably damaging	Het
Sardh	T	A	2: 27,131,529 (GRCm39)	T188S	possibly damaging	Het
Sebox	A	G	11: 78,394,919 (GRCm39)	E87G	probably damaging	Het
Smchd1	A	T	17: 71,665,193 (GRCm39)	M1830K	probably damaging	Het
Spata31h1	A	C	10: 82,126,366 (GRCm39)	S2215A	possibly damaging	Het
Spink8	G	A	9: 109,645,848 (GRCm39)	V7I	probably benign	Het
Src	G	A	2: 157,299,164 (GRCm39)	V54M	probably benign	Het
Taar2	A	G	10: 23,816,621 (GRCm39)	I54V	probably benign	Het
Tpo	A	T	12: 30,181,859 (GRCm39)	V12E	possibly damaging	Het
Txk	T	C	5: 72,864,918 (GRCm39)	D373G	probably damaging	Het
Ubr5	G	A	15: 37,980,076 (GRCm39)	A2434V	probably null	Het
Vil1	C	T	1: 74,465,754 (GRCm39)	T515M	probably benign	Het
Wdr47	G	T	3: 108,525,837 (GRCm39)	C120F	probably damaging	Het
Ylpm1	C	T	12: 85,059,799 (GRCm39)	P335L	unknown	Het
Zfp148	T	A	16: 33,288,545 (GRCm39)	I220N	probably damaging	Het
Zfp992	A	T	4: 146,551,622 (GRCm39)	K448*	probably null	Het
Zfp994	T	C	17: 22,419,406 (GRCm39)	I514M	probably benign	Het
Zp2	A	T	7: 119,734,998 (GRCm39)	I429N	probably damaging	Het

Other mutations in Dgkz

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01680:Dgkz	APN	2	91,766,210 (GRCm39)	missense	probably benign	0.00
IGL01995:Dgkz	APN	2	91,764,395 (GRCm39)	splice site	probably benign
IGL02247:Dgkz	APN	2	91,767,805 (GRCm39)	missense	probably benign	0.00
IGL02573:Dgkz	APN	2	91,764,542 (GRCm39)	missense	probably damaging	0.98
IGL02627:Dgkz	APN	2	91,769,055 (GRCm39)	splice site	probably benign
IGL02903:Dgkz	APN	2	91,770,307 (GRCm39)	missense	possibly damaging	0.45
IGL03106:Dgkz	APN	2	91,771,204 (GRCm39)	missense	probably damaging	0.99
R0103:Dgkz	UTSW	2	91,764,550 (GRCm39)	missense	probably benign
R0312:Dgkz	UTSW	2	91,768,684 (GRCm39)	missense	probably damaging	1.00
R0761:Dgkz	UTSW	2	91,775,696 (GRCm39)	missense	probably benign	0.00
R0839:Dgkz	UTSW	2	91,765,456 (GRCm39)	missense	probably benign	0.00
R1162:Dgkz	UTSW	2	91,774,789 (GRCm39)	missense	probably damaging	1.00
R1223:Dgkz	UTSW	2	91,769,660 (GRCm39)	splice site	probably benign
R1539:Dgkz	UTSW	2	91,768,405 (GRCm39)	missense	probably damaging	1.00
R1934:Dgkz	UTSW	2	91,767,449 (GRCm39)	missense	possibly damaging	0.92
R1936:Dgkz	UTSW	2	91,768,323 (GRCm39)	missense	possibly damaging	0.94
R3438:Dgkz	UTSW	2	91,764,395 (GRCm39)	splice site	probably benign
R3804:Dgkz	UTSW	2	91,769,975 (GRCm39)	missense	probably benign	0.06
R4675:Dgkz	UTSW	2	91,768,691 (GRCm39)	nonsense	probably null
R4731:Dgkz	UTSW	2	91,768,684 (GRCm39)	missense	probably damaging	1.00
R4732:Dgkz	UTSW	2	91,768,684 (GRCm39)	missense	probably damaging	1.00
R4733:Dgkz	UTSW	2	91,768,684 (GRCm39)	missense	probably damaging	1.00
R4901:Dgkz	UTSW	2	91,767,076 (GRCm39)	missense	probably benign
R4972:Dgkz	UTSW	2	91,776,047 (GRCm39)	missense	probably benign	0.00
R5027:Dgkz	UTSW	2	91,775,888 (GRCm39)	missense	probably benign	0.02
R5128:Dgkz	UTSW	2	91,773,028 (GRCm39)	missense	probably damaging	1.00
R5408:Dgkz	UTSW	2	91,766,168 (GRCm39)	missense	possibly damaging	0.91
R5494:Dgkz	UTSW	2	91,771,394 (GRCm39)	splice site	probably null
R5728:Dgkz	UTSW	2	91,776,132 (GRCm39)	missense	possibly damaging	0.93
R5813:Dgkz	UTSW	2	91,769,733 (GRCm39)	missense	possibly damaging	0.50
R6025:Dgkz	UTSW	2	91,776,255 (GRCm39)	missense	possibly damaging	0.75
R6043:Dgkz	UTSW	2	91,766,234 (GRCm39)	missense	probably benign	0.03
R6328:Dgkz	UTSW	2	91,772,980 (GRCm39)	missense	probably benign	0.04
R6335:Dgkz	UTSW	2	91,774,724 (GRCm39)	missense	probably benign	0.16
R7381:Dgkz	UTSW	2	91,775,180 (GRCm39)	missense	probably benign	0.02
R7541:Dgkz	UTSW	2	91,773,020 (GRCm39)	missense	probably damaging	1.00
R7560:Dgkz	UTSW	2	91,773,160 (GRCm39)	unclassified	probably benign
R7608:Dgkz	UTSW	2	91,764,399 (GRCm39)	critical splice donor site	probably null
R7624:Dgkz	UTSW	2	91,773,019 (GRCm39)	missense	probably damaging	1.00
R7938:Dgkz	UTSW	2	91,795,817 (GRCm39)	missense	probably damaging	0.96
R8183:Dgkz	UTSW	2	91,769,937 (GRCm39)	missense	probably damaging	1.00
R8233:Dgkz	UTSW	2	91,769,994 (GRCm39)	missense	probably damaging	1.00
R8415:Dgkz	UTSW	2	91,770,649 (GRCm39)	missense	possibly damaging	0.80
R8416:Dgkz	UTSW	2	91,770,649 (GRCm39)	missense	possibly damaging	0.80
R8757:Dgkz	UTSW	2	91,775,922 (GRCm39)	missense	probably benign
R8759:Dgkz	UTSW	2	91,775,922 (GRCm39)	missense	probably benign
R8930:Dgkz	UTSW	2	91,769,915 (GRCm39)	missense	probably damaging	0.99
R8932:Dgkz	UTSW	2	91,769,915 (GRCm39)	missense	probably damaging	0.99
R9005:Dgkz	UTSW	2	91,769,090 (GRCm39)	missense	probably benign	0.34
R9120:Dgkz	UTSW	2	91,768,545 (GRCm39)	missense	probably benign	0.00
R9205:Dgkz	UTSW	2	91,764,144 (GRCm39)	missense	probably benign	0.31
R9719:Dgkz	UTSW	2	91,768,911 (GRCm39)	critical splice acceptor site	probably null
RF001:Dgkz	UTSW	2	91,770,286 (GRCm39)	missense	possibly damaging	0.83
X0002:Dgkz	UTSW	2	91,766,907 (GRCm39)	missense	probably damaging	0.97
X0021:Dgkz	UTSW	2	91,767,464 (GRCm39)	missense	possibly damaging	0.91
Z1177:Dgkz	UTSW	2	91,772,679 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCAGTCTCTCAATGTGGG -3'
(R):5'- TCTGGCATCCTAAGTGAGGG -3'

Sequencing Primer
(F):5'- TCTCTCAATGTGGGCGCGG -3'
(R):5'- TCTTAGGACCTGGCCCAGTAC -3'

Posted On

2019-11-12