Mutagenetix > Incidental Mutation

Incidental Mutation 'R9205:Dgkz'

698422

Institutional Source

Beutler Lab

Gene Symbol

Dgkz

Ensembl Gene

ENSMUSG00000040479

Gene Name

diacylglycerol kinase zeta

Synonyms

E130307B02Rik, mDGK[z]

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9205 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

91932824-91975864 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 91933799 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 1067 (T1067S)

Ref Sequence

ENSEMBL: ENSMUSP00000106934 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028667] [ENSMUST00000028672] [ENSMUST00000069423] [ENSMUST00000090602] [ENSMUST00000099709] [ENSMUST00000111303] [ENSMUST00000111309] [ENSMUST00000128152] [ENSMUST00000142231]

AlphaFold

Q80UP3

Predicted Effect

probably benign
Transcript: ENSMUST00000028667
AA Change: T873S

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000028667
Gene: ENSMUSG00000040479
AA Change: T873S

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: ENSMUST00000069423

SMART Domains

Protein: ENSMUSP00000068413
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: ENSMUST00000090602

SMART Domains

Protein: ENSMUSP00000088090
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: T890S

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000106937
Gene: ENSMUSG00000040479
AA Change: T890S

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: T1067S

PolyPhen 2 Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000106934
Gene: ENSMUSG00000040479
AA Change: T1067S

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: ENSMUST00000111309

SMART Domains

Protein: ENSMUSP00000106941
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: 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: 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: 99.6%
20x: 98.3%

Validation Efficiency

95% (76/80)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp2	T	A	6: 140,642,228	H341Q	probably damaging	Het
Apob	G	A	12: 7,980,635	A125T	probably damaging	Het
Bace2	G	T	16: 97,356,859	A20S	unknown	Het
Bcar1	T	C	8: 111,715,709	Y238C	probably damaging	Het
Brinp3	A	T	1: 146,902,089	D758V	possibly damaging	Het
Btnl10	T	C	11: 58,920,519	S223P	probably damaging	Het
Cckar	C	T	5: 53,707,245		probably null	Het
Cdhr2	A	G	13: 54,713,988	N66S	probably benign	Het
Chd9	A	G	8: 91,030,642	M1890V	probably benign	Het
Col6a5	C	T	9: 105,878,638	G2196R	probably damaging	Het
Col9a1	T	G	1: 24,185,094	M119R	unknown	Het
Cryaa	A	G	17: 31,679,668	H123R	probably damaging	Het
Cux1	A	T	5: 136,370,135	D171E	probably damaging	Het
Dnah11	C	T	12: 118,027,516	E2372K	probably damaging	Het
Dnah5	T	C	15: 28,448,334	M4181T	possibly damaging	Het
Dnajb14	A	G	3: 137,908,384	E352G	possibly damaging	Het
Dnmt3l	T	A	10: 78,056,752		probably null	Het
Dph6	T	C	2: 114,569,514	I117V	probably damaging	Het
Dsg1a	A	G	18: 20,340,171	D767G	probably damaging	Het
Edn3	C	T	2: 174,761,689	P77S	possibly damaging	Het
Elmsan1	A	C	12: 84,152,887	F1020V	probably benign	Het
Fbln7	A	C	2: 128,895,248	S328R	probably null	Het
Fbn2	T	C	18: 58,059,356	R1518G	probably damaging	Het
Foxi2	A	T	7: 135,411,796	T252S	probably benign	Het
Foxred2	A	G	15: 77,952,006	S384P	probably damaging	Het
Gdpd1	G	A	11: 87,045,183	H174Y	probably benign	Het
Gm10542	A	C	18: 44,204,638	D61A	possibly damaging	Het
Gm10563	TTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTC	4: 155,635,850		probably benign	Het
H2-Ab1	A	G	17: 34,265,007	E114G	probably damaging	Het
Htt	C	T	5: 34,819,023	T723M	probably benign	Het
Igfn1	C	T	1: 135,975,957	V348I	probably damaging	Het
Itpr1	T	A	6: 108,489,849	L2173Q	probably damaging	Het
Lamp5	A	G	2: 136,059,601	Y115C	probably damaging	Het
Lrp1	T	A	10: 127,594,981	K400*	probably null	Het
Man2a2	C	T	7: 80,361,120	V708I	probably benign	Het
Matr3	T	C	18: 35,587,721	S746P	probably benign	Het
Me1	C	T	9: 86,598,794	V353M	probably benign	Het
Nbeal1	T	A	1: 60,278,680	D1925E	probably damaging	Het
Oca2	T	A	7: 56,316,420	F387I	probably damaging	Het
Olfr1163	T	A	2: 88,070,434	H316L	probably benign	Het
Olfr181	T	G	16: 58,926,122	I150L	probably benign	Het
Olfr181	G	T	16: 58,926,123	F149L	probably benign	Het
Olfr212	T	A	6: 116,516,354	N192K	probably benign	Het
Olfr420	T	C	1: 174,158,890	I39T	probably benign	Het
Olfr912	T	A	9: 38,582,077	S267T	probably benign	Het
Opn3	G	T	1: 175,663,089	N335K	probably benign	Het
Osm	A	G	11: 4,238,504	N44D	possibly damaging	Het
Otop2	T	C	11: 115,329,086	Y251H	probably damaging	Het
Pappa	T	C	4: 65,156,375	S389P	possibly damaging	Het
Polr1d	C	T	5: 147,101,258	A19V	probably damaging	Het
Ptchd4	G	A	17: 42,503,385	V726M	probably benign	Het
Pzp	T	A	6: 128,496,663	D731V	probably benign	Het
Rgl2	A	T	17: 33,936,028	I669F	probably damaging	Het
Rpl38	T	C	11: 114,672,288	*71R	probably null	Het
Rufy1	G	A	11: 50,398,474	R514W	probably damaging	Het
Ruvbl2	G	A	7: 45,434,317		probably benign	Het
Scn9a	T	G	2: 66,533,313	I874L	probably damaging	Het
Slc14a2	A	G	18: 78,195,736	S85P	probably benign	Het
Slc17a1	A	G	13: 23,878,811	I287V	probably benign	Het
Slc35f3	T	A	8: 126,389,189	I285N	probably damaging	Het
Slx4	A	G	16: 3,988,063	S542P	possibly damaging	Het
Sox30	A	T	11: 46,017,353	L782F	probably damaging	Het
Sspo	A	G	6: 48,455,872	N894S	probably benign	Het
Syne1	G	A	10: 5,202,013	Q5765*	probably null	Het
Taar7e	T	C	10: 24,038,074	I154T	probably benign	Het
Tars	A	G	15: 11,397,179		probably null	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,160,856		probably null	Het
Tmem198b	A	T	10: 128,803,188	C29S	probably damaging	Het
Tnr	A	C	1: 159,895,047	M1021L	probably benign	Het
Tom1l1	G	A	11: 90,657,818	P309L	probably damaging	Het
Traf4	A	G	11: 78,161,101	S186P	probably benign	Het
Trpm1	T	G	7: 64,240,571	V974G	possibly damaging	Het
Tsga10	T	A	1: 37,841,278		probably benign	Het
Tyw1	G	A	5: 130,269,224	R202Q	probably damaging	Het
Vmn2r93	A	T	17: 18,304,019	I92F	probably damaging	Het
Zfp457	A	T	13: 67,293,901	D203E	probably benign	Het
Zfp518b	G	A	5: 38,674,158	S168F	probably damaging	Het
Zfp7	TGCGGGAAAGGTTTCCACCTGAGCG	TGCG	15: 76,890,600		probably benign	Het
Zfp777	G	A	6: 48,025,587	T523M	probably benign	Het

Other mutations in Dgkz

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01680:Dgkz	APN	2	91935865	missense	probably benign	0.00
IGL01995:Dgkz	APN	2	91934050	splice site	probably benign
IGL02247:Dgkz	APN	2	91937460	missense	probably benign	0.00
IGL02573:Dgkz	APN	2	91934197	missense	probably damaging	0.98
IGL02627:Dgkz	APN	2	91938710	splice site	probably benign
IGL02903:Dgkz	APN	2	91939962	missense	possibly damaging	0.45
IGL03106:Dgkz	APN	2	91940859	missense	probably damaging	0.99
R0103:Dgkz	UTSW	2	91934205	missense	probably benign
R0312:Dgkz	UTSW	2	91938339	missense	probably damaging	1.00
R0761:Dgkz	UTSW	2	91945351	missense	probably benign	0.00
R0839:Dgkz	UTSW	2	91935111	missense	probably benign	0.00
R1162:Dgkz	UTSW	2	91944444	missense	probably damaging	1.00
R1223:Dgkz	UTSW	2	91939315	splice site	probably benign
R1539:Dgkz	UTSW	2	91938060	missense	probably damaging	1.00
R1934:Dgkz	UTSW	2	91937104	missense	possibly damaging	0.92
R1936:Dgkz	UTSW	2	91937978	missense	possibly damaging	0.94
R3438:Dgkz	UTSW	2	91934050	splice site	probably benign
R3804:Dgkz	UTSW	2	91939630	missense	probably benign	0.06
R4675:Dgkz	UTSW	2	91938346	nonsense	probably null
R4731:Dgkz	UTSW	2	91938339	missense	probably damaging	1.00
R4732:Dgkz	UTSW	2	91938339	missense	probably damaging	1.00
R4733:Dgkz	UTSW	2	91938339	missense	probably damaging	1.00
R4901:Dgkz	UTSW	2	91936731	missense	probably benign
R4972:Dgkz	UTSW	2	91945702	missense	probably benign	0.00
R5027:Dgkz	UTSW	2	91945543	missense	probably benign	0.02
R5128:Dgkz	UTSW	2	91942683	missense	probably damaging	1.00
R5408:Dgkz	UTSW	2	91935823	missense	possibly damaging	0.91
R5494:Dgkz	UTSW	2	91941049	splice site	probably null
R5728:Dgkz	UTSW	2	91945787	missense	possibly damaging	0.93
R5813:Dgkz	UTSW	2	91939388	missense	possibly damaging	0.50
R6025:Dgkz	UTSW	2	91945910	missense	possibly damaging	0.75
R6043:Dgkz	UTSW	2	91935889	missense	probably benign	0.03
R6328:Dgkz	UTSW	2	91942635	missense	probably benign	0.04
R6335:Dgkz	UTSW	2	91944379	missense	probably benign	0.16
R7381:Dgkz	UTSW	2	91944835	missense	probably benign	0.02
R7541:Dgkz	UTSW	2	91942675	missense	probably damaging	1.00
R7560:Dgkz	UTSW	2	91942815	unclassified	probably benign
R7608:Dgkz	UTSW	2	91934054	critical splice donor site	probably null
R7624:Dgkz	UTSW	2	91942674	missense	probably damaging	1.00
R7709:Dgkz	UTSW	2	91937059	missense	probably benign	0.02
R7938:Dgkz	UTSW	2	91965472	missense	probably damaging	0.96
R8183:Dgkz	UTSW	2	91939592	missense	probably damaging	1.00
R8233:Dgkz	UTSW	2	91939649	missense	probably damaging	1.00
R8415:Dgkz	UTSW	2	91940304	missense	possibly damaging	0.80
R8416:Dgkz	UTSW	2	91940304	missense	possibly damaging	0.80
R8757:Dgkz	UTSW	2	91945577	missense	probably benign
R8759:Dgkz	UTSW	2	91945577	missense	probably benign
R8930:Dgkz	UTSW	2	91939570	missense	probably damaging	0.99
R8932:Dgkz	UTSW	2	91939570	missense	probably damaging	0.99
R9005:Dgkz	UTSW	2	91938745	missense	probably benign	0.34
R9120:Dgkz	UTSW	2	91938200	missense	probably benign	0.00
R9719:Dgkz	UTSW	2	91938566	critical splice acceptor site	probably null
RF001:Dgkz	UTSW	2	91939941	missense	possibly damaging	0.83
X0002:Dgkz	UTSW	2	91936562	missense	probably damaging	0.97
X0021:Dgkz	UTSW	2	91937119	missense	possibly damaging	0.91
Z1177:Dgkz	UTSW	2	91942334	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCTTCTACGGAGCCAGAGG -3'
(R):5'- AAGAACCCTTTGTGGCTAGCAC -3'

Sequencing Primer
(F):5'- GGTATCCTCAGAGGTCACAAGC -3'
(R):5'- CCTTTGTGGCTAGCACTGAGC -3'

Posted On

2022-02-07