Mutagenetix > Incidental Mutation

Incidental Mutation 'R4972:Dgkz'

384494

Institutional Source

Beutler Lab

Gene Symbol

Dgkz

Ensembl Gene

ENSMUSG00000040479

Gene Name

diacylglycerol kinase zeta

Synonyms

E130307B02Rik, mDGK[z]

MMRRC Submission

042567-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4972 (G1)

Quality Score

197

Status

Validated

Chromosome

Chromosomal Location

91932824-91975864 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 91945702 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 72 (R72H)

Ref Sequence

ENSEMBL: ENSMUSP00000106934 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028667] [ENSMUST00000099709] [ENSMUST00000111303] [ENSMUST00000128152] [ENSMUST00000142090] [ENSMUST00000142231] [ENSMUST00000178895]

AlphaFold

Q80UP3

Predicted Effect

probably benign
Transcript: ENSMUST00000028667

SMART Domains

Protein: ENSMUSP00000028667
Gene: ENSMUSG00000040479

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: ENSMUST00000099709

SMART Domains

Protein: ENSMUSP00000106937
Gene: ENSMUSG00000040479

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: R72H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000106934
Gene: ENSMUSG00000040479
AA Change: R72H

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

noncoding transcript
Transcript: ENSMUST00000126473

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

Predicted Effect

probably benign
Transcript: ENSMUST00000178895

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183498

Meta Mutation Damage Score

0.0986

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.2%

Validation Efficiency

93% (82/88)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	T	14: 32,661,404	I868N	possibly damaging	Het
A730013G03Rik	C	G	1: 192,833,773		noncoding transcript	Het
Actl11	A	G	9: 107,929,956	T493A	probably benign	Het
Actn1	T	C	12: 80,173,039	D686G	probably benign	Het
Adamts1	G	A	16: 85,795,945	T525I	probably damaging	Het
Adcy10	T	A	1: 165,556,862	L1064H	probably damaging	Het
AI661453	A	T	17: 47,466,399		probably benign	Het
Apba1	T	A	19: 23,912,536	S433T	probably benign	Het
Arid4b	T	A	13: 14,160,272	N355K	probably benign	Het
Bsn	A	T	9: 108,115,178	M1125K	probably damaging	Het
C2cd5	A	T	6: 143,013,224	M1003K	probably damaging	Het
Ccdc18	A	G	5: 108,192,003	M805V	probably benign	Het
Cep89	T	G	7: 35,432,552	L637R	probably damaging	Het
Col24a1	A	T	3: 145,509,684	I1444F	probably benign	Het
Commd4	A	T	9: 57,155,448	S175T	probably benign	Het
Coq7	A	G	7: 118,510,117	V236A	unknown	Het
Dctn2	C	T	10: 127,276,703	R176C	probably damaging	Het
Ddx31	T	C	2: 28,860,770	F389L	probably damaging	Het
Dpysl4	A	G	7: 139,090,290	D24G	probably damaging	Het
Dydc1	A	G	14: 41,082,338	T106A	probably benign	Het
F13b	A	G	1: 139,510,923	Y355C	probably damaging	Het
Fcrl5	A	G	3: 87,454,650	M407V	probably benign	Het
Fzd5	C	A	1: 64,736,012	V197L	probably benign	Het
Galnt16	G	T	12: 80,572,329	E70*	probably null	Het
Gm8979	T	C	7: 106,083,314		noncoding transcript	Het
Gpr171	A	T	3: 59,097,965	F130I	probably damaging	Het
Grin3a	T	C	4: 49,770,484	N763D	probably damaging	Het
Gsta2	A	T	9: 78,337,679	M51K	probably damaging	Het
Hacd3	A	T	9: 64,990,436	I298N	probably damaging	Het
Il18r1	C	T	1: 40,491,064	P317L	probably benign	Het
Iscu	T	A	5: 113,776,976		probably benign	Het
Kif6	A	G	17: 49,707,619	D250G	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lcn6	T	A	2: 25,680,067	C82S	probably damaging	Het
Mob4	C	G	1: 55,151,002	L135V	possibly damaging	Het
Mpzl3	T	A	9: 45,062,256		probably benign	Het
Mvp	T	C	7: 126,989,798	D599G	probably damaging	Het
Myo1a	T	C	10: 127,716,309	Y766H	probably benign	Het
Myo5b	A	G	18: 74,627,193	H260R	probably damaging	Het
Nbea	C	T	3: 56,085,246	R313H	probably damaging	Het
Necab1	T	A	4: 14,978,216	D211V	probably damaging	Het
Nefl	G	T	14: 68,086,763		probably benign	Het
Nfx1	T	A	4: 40,976,375	D16E	probably benign	Het
Nlrp9a	G	T	7: 26,570,539	C797F	probably damaging	Het
Olfr1280	T	A	2: 111,315,818	V113E	probably damaging	Het
Olfr467	A	G	7: 107,814,746	Q56R	probably benign	Het
Pde6b	A	G	5: 108,425,264	D500G	probably benign	Het
Pgs1	T	C	11: 118,005,893		probably null	Het
Polr3b	T	A	10: 84,638,124	I189N	probably damaging	Het
Ppwd1	A	T	13: 104,220,108	S300T	probably benign	Het
Prl2c2	A	C	13: 13,002,170	N55K	possibly damaging	Het
Prpf19	C	T	19: 10,899,345		probably benign	Het
Prph2	G	T	17: 46,910,807	L37F	possibly damaging	Het
Ptprg	G	T	14: 12,226,427	R565L	possibly damaging	Het
Rab8a	C	T	8: 72,171,275	T74M	probably damaging	Het
Rexo1	A	T	10: 80,549,693	F510L	probably damaging	Het
Rexo2	G	T	9: 48,479,389	T51K	probably damaging	Het
Sh3d21	T	C	4: 126,152,416	K147R	possibly damaging	Het
Skint6	A	G	4: 112,835,068	I1062T	probably benign	Het
Spag16	C	T	1: 70,724,928	R636W	probably damaging	Het
Spata16	T	C	3: 26,840,723	I307T	possibly damaging	Het
Speer4f2	T	G	5: 17,374,425	I74S	probably benign	Het
Svep1	T	A	4: 58,087,778	Y1767F	possibly damaging	Het
Swt1	T	C	1: 151,423,542	S7G	probably benign	Het
Tex9	A	G	9: 72,478,338		probably null	Het
Thsd7b	C	A	1: 130,188,572	P1354H	probably damaging	Het
Ticrr	A	G	7: 79,669,668	D467G	probably damaging	Het
Tmco5b	A	C	2: 113,296,993	D303A	probably damaging	Het
Trpm7	A	G	2: 126,824,058	V876A	probably damaging	Het
Ttc21a	G	A	9: 119,944,961	E245K	probably benign	Het
Vezt	C	T	10: 94,000,350		probably null	Het
Zscan20	G	A	4: 128,592,359	P183S	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
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
R9205:Dgkz	UTSW	2	91933799	missense	probably benign	0.31
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'- ACCTGGCCTAGCATCACTTG -3'
(R):5'- TTTCCAACGAAAGGCACGAG -3'

Sequencing Primer
(F):5'- AGCATCACTTGTCGCCTCAG -3'
(R):5'- ACGAAAGGCACGAGGTCCC -3'

Posted On

2016-04-27