Mutagenetix > Incidental Mutation

Incidental Mutation 'R9005:Dgkz'

685192

Institutional Source

Beutler Lab

Gene Symbol

Dgkz

Ensembl Gene

ENSMUSG00000040479

Gene Name

diacylglycerol kinase zeta

Synonyms

mDGK[z], E130307B02Rik

MMRRC Submission

068835-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9005 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

91763169-91806209 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 91769090 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 653 (H653Q)

Ref Sequence

ENSEMBL: ENSMUSP00000106934 (fasta)

Gene Model

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

AlphaFold

Q80UP3

Predicted Effect

probably benign
Transcript: ENSMUST00000028667
AA Change: H459Q

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000028667
Gene: ENSMUSG00000040479
AA Change: H459Q

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
AA Change: H476Q

PolyPhen 2 Score 0.203 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000106937
Gene: ENSMUSG00000040479
AA Change: H476Q

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: H653Q

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000106934
Gene: ENSMUSG00000040479
AA Change: H653Q

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: 99.6%
20x: 98.9%

Validation Efficiency

99% (80/81)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059E24Rik	C	T	19: 21,630,075 (GRCm39)		probably benign	Het
Abcd4	C	T	12: 84,655,356 (GRCm39)	W369*	probably null	Het
Abcf3	A	G	16: 20,368,056 (GRCm39)	E98G	probably benign	Het
Acaca	A	T	11: 84,262,410 (GRCm39)	D2004V	probably damaging	Het
Acot5	G	C	12: 84,116,630 (GRCm39)	M130I		Het
Adamts3	C	T	5: 89,825,693 (GRCm39)	E1049K	probably benign	Het
Agfg2	A	T	5: 137,650,744 (GRCm39)	L456Q	probably damaging	Het
Agtr1b	T	A	3: 20,370,343 (GRCm39)	T88S	possibly damaging	Het
Amer2	G	C	14: 60,617,376 (GRCm39)	D524H	probably damaging	Het
Ankrd61	T	A	5: 143,831,676 (GRCm39)	T43S	probably benign	Het
Apcs	A	G	1: 172,721,776 (GRCm39)	L190P	probably benign	Het
Arsg	A	G	11: 109,381,346 (GRCm39)	K30E	probably benign	Het
Banp	A	T	8: 122,705,441 (GRCm39)	M104L	possibly damaging	Het
Caskin1	A	G	17: 24,718,111 (GRCm39)	Q268R	probably benign	Het
Ccdc112	A	G	18: 46,429,455 (GRCm39)	V81A	probably damaging	Het
Cfap44	T	C	16: 44,280,517 (GRCm39)	I1432T	probably damaging	Het
Chd2	A	T	7: 73,134,294 (GRCm39)	N684K	probably damaging	Het
Creb1	T	C	1: 64,605,478 (GRCm39)		probably null	Het
Ctsc	C	T	7: 87,927,502 (GRCm39)	T31I	probably damaging	Het
Cttnbp2	C	A	6: 18,434,430 (GRCm39)	R476L	probably damaging	Het
Cwf19l1	T	C	19: 44,111,653 (GRCm39)	D260G	possibly damaging	Het
Cyp24a1	A	T	2: 170,336,005 (GRCm39)	S211T	probably damaging	Het
Ddx3y	T	C	Y: 1,282,919 (GRCm39)	N46D	probably damaging	Het
Dnajc16	A	T	4: 141,491,945 (GRCm39)	I626N	possibly damaging	Het
Dsc2	T	C	18: 20,171,151 (GRCm39)	D616G	probably benign	Het
Dscam	A	T	16: 96,602,580 (GRCm39)	S621T	probably damaging	Het
Dst	T	A	1: 34,267,774 (GRCm39)	V3058E	probably damaging	Het
Ep400	A	T	5: 110,858,959 (GRCm39)	C1125S	unknown	Het
Glyatl3	G	A	17: 41,223,619 (GRCm39)	Q41*	probably null	Het
Gm7694	T	G	1: 170,128,927 (GRCm39)	I201L	probably damaging	Het
Gnal	C	T	18: 67,221,830 (GRCm39)	R78*	probably null	Het
Gtf3c1	T	C	7: 125,303,069 (GRCm39)	D122G	probably benign	Het
Htt	G	T	5: 34,975,095 (GRCm39)	D622Y	possibly damaging	Het
Igkv4-92	A	G	6: 68,732,081 (GRCm39)	C98R	probably benign	Het
Incenp	G	A	19: 9,855,088 (GRCm39)	R608*	probably null	Het
Kics2	A	G	10: 121,586,501 (GRCm39)	Y272C	probably damaging	Het
Kif3c	G	A	12: 3,451,706 (GRCm39)	R679H	probably damaging	Het
Kng1	T	A	16: 22,898,146 (GRCm39)	H515Q	probably damaging	Het
Lamb2	T	C	9: 108,361,370 (GRCm39)		probably null	Het
Malrd1	A	T	2: 15,850,140 (GRCm39)	N1253I	unknown	Het
Map3k21	A	T	8: 126,637,471 (GRCm39)	D19V		Het
Marchf2	G	T	17: 33,915,207 (GRCm39)	P129Q	probably damaging	Het
Mier2	G	A	10: 79,384,274 (GRCm39)	R166W	probably damaging	Het
Ms4a4d	T	A	19: 11,533,564 (GRCm39)	D148E	possibly damaging	Het
Myl4	A	G	11: 104,468,384 (GRCm39)	D36G	probably damaging	Het
Or1x6	G	A	11: 50,938,938 (GRCm39)	M1I	probably null	Het
Or2a25	T	C	6: 42,889,170 (GRCm39)	S238P	probably damaging	Het
Or5ac24	A	T	16: 59,165,929 (GRCm39)	I45N	probably damaging	Het
Or5an11	A	G	19: 12,245,704 (GRCm39)	T37A	probably benign	Het
Pard3	G	A	8: 128,003,647 (GRCm39)	S123N	probably damaging	Het
Parp8	T	C	13: 117,013,126 (GRCm39)	N638D	probably benign	Het
Pgpep1l	A	T	7: 67,887,406 (GRCm39)	S65T	probably damaging	Het
Ppp1r13b	A	G	12: 111,796,708 (GRCm39)	V1068A	probably benign	Het
Pramel20	G	A	4: 143,298,425 (GRCm39)	D123N	probably benign	Het
Prkd1	G	A	12: 50,430,185 (GRCm39)	Q641*	probably null	Het
Ptgr2	T	C	12: 84,344,873 (GRCm39)	V82A	possibly damaging	Het
Rbm34	G	A	8: 127,686,332 (GRCm39)	P225S	possibly damaging	Het
Rnps1	A	T	17: 24,637,496 (GRCm39)	K46I	unknown	Het
Shank1	T	C	7: 44,002,409 (GRCm39)	V1376A	probably benign	Het
Ski	A	T	4: 155,306,317 (GRCm39)	Y221N	probably damaging	Het
Skint6	C	A	4: 113,095,347 (GRCm39)	G104V	probably damaging	Het
Slit2	G	A	5: 48,459,860 (GRCm39)	C1380Y	possibly damaging	Het
Smpd3	C	T	8: 106,984,058 (GRCm39)	G554S	probably benign	Het
Sorbs2	T	G	8: 46,248,774 (GRCm39)	V675G	probably benign	Het
Spdl1	C	A	11: 34,700,535 (GRCm39)	C605F	possibly damaging	Het
Syne1	C	A	10: 5,155,406 (GRCm39)	D5568Y	probably benign	Het
Tac1	C	A	6: 7,559,141 (GRCm39)	A111D	possibly damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tnfrsf1a	T	C	6: 125,333,878 (GRCm39)	C44R	probably damaging	Het
Traf3ip3	T	C	1: 192,864,285 (GRCm39)	Q366R	probably benign	Het
Trip10	A	G	17: 57,569,416 (GRCm39)	D479G	probably damaging	Het
Trip11	T	C	12: 101,845,131 (GRCm39)	T1536A	probably benign	Het
Tstd3	G	T	4: 21,767,082 (GRCm39)	A13E	possibly damaging	Het
Urb1	T	C	16: 90,550,678 (GRCm39)	K2058R	probably benign	Het
Usp15	A	T	10: 122,982,703 (GRCm39)	I304N	possibly damaging	Het
Usp18	T	G	6: 121,229,529 (GRCm39)	H49Q	probably benign	Het
Vmn1r56	T	A	7: 5,199,389 (GRCm39)	D76V	probably damaging	Het
Wnk1	A	G	6: 119,939,393 (GRCm39)	S167P	probably damaging	Het
Zfp229	G	A	17: 21,965,731 (GRCm39)	A654T	possibly damaging	Het
Zfp977	C	T	7: 42,230,082 (GRCm39)	V148I	probably benign	Het
Znfx1	A	T	2: 166,880,656 (GRCm39)	I1240N		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
R7709:Dgkz	UTSW	2	91,767,404 (GRCm39)	missense	probably benign	0.02
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
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'- GCGGCTGTTGAACTTCTCTG -3'
(R):5'- GGGGAACTTTGAAACACTCTTTAC -3'

Sequencing Primer
(F):5'- AACTTCTCTGGGTTGGCTTC -3'
(R):5'- TTTACTTGACACAAAGGCCTCTAC -3'

Posted On

2021-10-11