Mutagenetix > Incidental Mutation

Incidental Mutation 'R1956:Dgkh'

217841

Institutional Source

Beutler Lab

Gene Symbol

Dgkh

Ensembl Gene

ENSMUSG00000034731

Gene Name

diacylglycerol kinase, eta

Synonyms

5930402B05Rik

MMRRC Submission

039970-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1956 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78796789-78970169 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78855981 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 231 (N231S)

Ref Sequence

ENSEMBL: ENSMUSP00000154031 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074729] [ENSMUST00000226342] [ENSMUST00000227537] [ENSMUST00000227767] [ENSMUST00000228362]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074729
AA Change: N364S

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000074290
Gene: ENSMUSG00000034731
AA Change: N364S

Domain	Start	End	E-Value	Type
low complexity region	12	32	N/A	INTRINSIC
PH	63	157	1.91e-19	SMART
C1	173	222	1.35e-16	SMART
C1	245	295	1.66e-7	SMART
DAGKc	329	454	3.11e-62	SMART
low complexity region	654	667	N/A	INTRINSIC
low complexity region	715	730	N/A	INTRINSIC
DAGKa	762	919	1.74e-92	SMART
low complexity region	1124	1134	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000226342
AA Change: N364S

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227537
AA Change: N249S

PolyPhen 2 Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably damaging
Transcript: ENSMUST00000227767
AA Change: N231S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227820

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228362
AA Change: N231S

PolyPhen 2 Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the diacylglycerol kinase (DGK) enzyme family. Members of this family are involved in regulating intracellular concentrations of diacylglycerol and phosphatidic acid. Variation in this gene has been associated with bipolar disorder. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Jul 2014]

Allele List at MGI

Other mutations in this stock

Total: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aard	A	T	15: 51,908,316 (GRCm39)	D157V	probably damaging	Het
Abcg5	A	G	17: 84,977,803 (GRCm39)	V151A	probably damaging	Het
Acss3	A	G	10: 106,772,029 (GRCm39)	V682A	probably benign	Het
Adamts9	A	T	6: 92,836,830 (GRCm39)	C641S	probably damaging	Het
Adipor1	T	C	1: 134,350,771 (GRCm39)	S7P	probably benign	Het
Ankrd27	T	A	7: 35,303,264 (GRCm39)	Y215N	probably damaging	Het
Arhgef7	T	A	8: 11,855,266 (GRCm39)	L182Q	probably damaging	Het
Arnt	C	T	3: 95,355,704 (GRCm39)	S16L	possibly damaging	Het
Arrdc4	T	C	7: 68,391,547 (GRCm39)	K240R	probably benign	Het
Atg2b	T	C	12: 105,635,677 (GRCm39)	Y197C	probably damaging	Het
Atp13a2	A	G	4: 140,731,572 (GRCm39)	K907R	possibly damaging	Het
Cadps2	A	T	6: 23,287,685 (GRCm39)	M1160K	probably damaging	Het
Cdk12	A	G	11: 98,110,042 (GRCm39)	T688A	probably benign	Het
Cfap43	T	A	19: 47,885,649 (GRCm39)	Y322F	probably benign	Het
Crabp2	T	C	3: 87,856,193 (GRCm39)	F16L	probably damaging	Het
Creb3	A	G	4: 43,563,279 (GRCm39)		probably null	Het
Crk	T	C	11: 75,583,496 (GRCm39)	Y239H	possibly damaging	Het
Cyp3a13	A	G	5: 137,908,204 (GRCm39)	I215T	probably benign	Het
D130043K22Rik	A	G	13: 25,069,578 (GRCm39)	Y879C	probably damaging	Het
Depdc5	T	C	5: 33,061,175 (GRCm39)	V334A	probably damaging	Het
Disp2	T	A	2: 118,622,704 (GRCm39)	H1145Q	probably benign	Het
Epb41l4b	T	C	4: 57,038,553 (GRCm39)	T563A	possibly damaging	Het
Ephb3	G	A	16: 21,040,132 (GRCm39)	R498H	probably damaging	Het
F10	T	C	8: 13,105,422 (GRCm39)	I329T	probably damaging	Het
Fam13b	G	T	18: 34,578,382 (GRCm39)	Q760K	possibly damaging	Het
Fmo4	G	A	1: 162,631,259 (GRCm39)	T236I	probably benign	Het
Foxp4	C	T	17: 48,186,796 (GRCm39)	R378Q	unknown	Het
Fpr-rs4	A	G	17: 18,242,518 (GRCm39)	Y175C	probably damaging	Het
Fzd8	T	A	18: 9,214,502 (GRCm39)	M528K	probably damaging	Het
Gcc2	A	G	10: 58,121,965 (GRCm39)	H1134R	possibly damaging	Het
Gdf10	G	A	14: 33,654,710 (GRCm39)	A406T	probably benign	Het
Ggn	T	A	7: 28,871,341 (GRCm39)	S240R	probably damaging	Het
Git2	C	T	5: 114,887,398 (GRCm39)	W299*	probably null	Het
Gm42669	A	T	5: 107,656,738 (GRCm39)	E355D	possibly damaging	Het
Gm5134	T	C	10: 75,840,680 (GRCm39)	F508S	possibly damaging	Het
Gm9923	G	T	10: 72,145,490 (GRCm39)	V114L	probably benign	Het
Has3	A	T	8: 107,605,435 (GRCm39)	Y547F	probably benign	Het
Heatr5a	A	G	12: 51,992,202 (GRCm39)		probably null	Het
Hnrnpk	A	T	13: 58,544,000 (GRCm39)		probably null	Het
Ifna4	A	T	4: 88,760,311 (GRCm39)	I72F	probably damaging	Het
Ip6k3	A	T	17: 27,370,142 (GRCm39)	L92Q	probably benign	Het
Itpripl1	T	C	2: 126,983,927 (GRCm39)	E65G	probably damaging	Het
Kcnh5	G	C	12: 74,944,358 (GRCm39)	Q964E	probably benign	Het
Kmt2d	A	G	15: 98,757,471 (GRCm39)		probably benign	Het
Lrrc69	A	G	4: 14,665,986 (GRCm39)	V324A	possibly damaging	Het
Mefv	T	C	16: 3,535,691 (GRCm39)	Q79R	probably damaging	Het
Mettl17	T	C	14: 52,126,254 (GRCm39)	S168P	probably damaging	Het
Mpp4	A	T	1: 59,197,811 (GRCm39)	S23T	probably benign	Het
Nabp1	A	T	1: 51,517,004 (GRCm39)	V24D	probably damaging	Het
Nod2	T	A	8: 89,390,836 (GRCm39)	F359Y	probably damaging	Het
Or10g1b	C	T	14: 52,628,037 (GRCm39)	M64I	probably benign	Het
Or1p1c	A	T	11: 74,160,670 (GRCm39)	T152S	probably damaging	Het
Or51b17	T	G	7: 103,542,925 (GRCm39)	S6R	probably benign	Het
Or52d3	C	A	7: 104,229,116 (GRCm39)	L88M	probably damaging	Het
Or5ak4	T	C	2: 85,161,444 (GRCm39)	D266G	probably benign	Het
Or5b107	T	C	19: 13,142,560 (GRCm39)	Y61H	probably damaging	Het
Or6a2	C	T	7: 106,600,342 (GRCm39)	A242T	probably damaging	Het
Or7a39	A	G	10: 78,715,267 (GRCm39)	Q87R	probably benign	Het
Pcdh18	T	C	3: 49,710,400 (GRCm39)	H305R	probably benign	Het
Phf1	T	A	17: 27,154,719 (GRCm39)		probably null	Het
Pold3	T	C	7: 99,737,318 (GRCm39)	K379R	probably benign	Het
Polr1f	T	A	12: 33,487,817 (GRCm39)	V244D	probably benign	Het
Pou2f3	T	A	9: 43,056,534 (GRCm39)	T108S	probably benign	Het
Prdm5	C	A	6: 65,913,060 (GRCm39)	T203K	probably damaging	Het
Psma5	A	G	3: 108,173,760 (GRCm39)	S79G	probably benign	Het
Psme4	T	A	11: 30,782,424 (GRCm39)	S889T	probably damaging	Het
Ptk2	A	T	15: 73,087,832 (GRCm39)	V902D	possibly damaging	Het
Rad54l	T	A	4: 115,967,554 (GRCm39)	I243F	probably damaging	Het
Ralgapa2	A	G	2: 146,302,679 (GRCm39)	F95L	probably benign	Het
Rassf6	G	A	5: 90,763,730 (GRCm39)	Q71*	probably null	Het
Ryr2	A	T	13: 11,695,966 (GRCm39)	L2967H	probably damaging	Het
Scn5a	T	C	9: 119,346,479 (GRCm39)	T1058A	possibly damaging	Het
Sdk1	T	C	5: 142,080,336 (GRCm39)	L1276P	probably damaging	Het
Serpina12	T	G	12: 104,002,048 (GRCm39)	T223P	probably damaging	Het
Sh3yl1	A	G	12: 30,992,787 (GRCm39)		probably null	Het
Spata31g1	A	T	4: 42,970,105 (GRCm39)		probably null	Het
St6galnac5	T	A	3: 152,552,120 (GRCm39)	Q149L	probably benign	Het
Stam2	T	C	2: 52,598,239 (GRCm39)		probably null	Het
Tac2	A	G	10: 127,564,349 (GRCm39)		probably null	Het
Tbata	G	A	10: 61,019,256 (GRCm39)	D271N	probably damaging	Het
Tbx3	T	C	5: 119,819,018 (GRCm39)	V531A	probably benign	Het
Tektl1	A	G	10: 78,586,373 (GRCm39)		probably null	Het
Thra	T	A	11: 98,654,567 (GRCm39)	D312E	probably benign	Het
Tlr1	T	A	5: 65,082,520 (GRCm39)	I686F	probably damaging	Het
Tmem86b	A	T	7: 4,631,706 (GRCm39)	F115L	probably benign	Het
Tmem94	A	G	11: 115,679,500 (GRCm39)	D259G	possibly damaging	Het
Trim69	G	A	2: 122,004,956 (GRCm39)		probably null	Het
Usp43	T	A	11: 67,795,159 (GRCm39)	Q243L	probably damaging	Het
Vcam1	T	C	3: 115,919,606 (GRCm39)	Y226C	probably damaging	Het
Vmn2r104	A	T	17: 20,262,313 (GRCm39)	N272K	probably damaging	Het
Vmn2r26	G	A	6: 124,030,846 (GRCm39)	C527Y	probably damaging	Het
Vmn2r84	G	A	10: 130,226,677 (GRCm39)	A387V	probably benign	Het
Vps13b	A	T	15: 35,869,553 (GRCm39)	I2686F	probably damaging	Het
Vps8	C	T	16: 21,279,892 (GRCm39)	T281M	probably damaging	Het
Wdfy3	A	G	5: 102,067,275 (GRCm39)	V1219A	probably benign	Het
Wnt9b	A	G	11: 103,621,638 (GRCm39)	C340R	probably damaging	Het
Zfhx3	T	C	8: 109,520,774 (GRCm39)	V632A	probably benign	Het
Zfp1006	A	T	8: 129,948,309 (GRCm39)	D41E	possibly damaging	Het
Zfp341	A	T	2: 154,480,132 (GRCm39)	T528S	probably benign	Het
Zfp990	G	A	4: 145,261,452 (GRCm39)	A33T	probably damaging	Het
Zranb1	T	G	7: 132,584,458 (GRCm39)	S601R	probably damaging	Het
Zyx	A	T	6: 42,328,289 (GRCm39)	K166I	probably damaging	Het

Other mutations in Dgkh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00654:Dgkh	APN	14	78,847,033 (GRCm39)	missense	possibly damaging	0.92
IGL00767:Dgkh	APN	14	78,824,701 (GRCm39)	splice site	probably benign
IGL00787:Dgkh	APN	14	78,855,954 (GRCm39)	splice site	probably benign
IGL01503:Dgkh	APN	14	78,853,710 (GRCm39)	missense	possibly damaging	0.96
IGL02308:Dgkh	APN	14	78,825,016 (GRCm39)	missense	probably benign	0.01
IGL02707:Dgkh	APN	14	78,823,091 (GRCm39)	missense	possibly damaging	0.75
IGL02987:Dgkh	APN	14	78,827,312 (GRCm39)	critical splice donor site	probably null
IGL03058:Dgkh	APN	14	78,865,237 (GRCm39)	missense	probably benign	0.23
IGL03341:Dgkh	APN	14	78,832,931 (GRCm39)	splice site	probably benign
PIT1430001:Dgkh	UTSW	14	78,818,953 (GRCm39)	missense	probably damaging	1.00
PIT4445001:Dgkh	UTSW	14	78,813,382 (GRCm39)	missense	possibly damaging	0.91
R0153:Dgkh	UTSW	14	78,807,569 (GRCm39)	nonsense	probably null
R0730:Dgkh	UTSW	14	78,821,919 (GRCm39)	missense	probably damaging	0.99
R1136:Dgkh	UTSW	14	78,862,329 (GRCm39)	missense	probably damaging	1.00
R1162:Dgkh	UTSW	14	78,861,891 (GRCm39)	missense	probably damaging	1.00
R1689:Dgkh	UTSW	14	78,855,984 (GRCm39)	missense	possibly damaging	0.86
R1771:Dgkh	UTSW	14	78,846,967 (GRCm39)	missense	probably damaging	1.00
R1861:Dgkh	UTSW	14	78,816,232 (GRCm39)	missense	probably benign	0.04
R1916:Dgkh	UTSW	14	78,832,663 (GRCm39)	missense	probably damaging	0.97
R1930:Dgkh	UTSW	14	78,853,945 (GRCm39)	missense	probably damaging	1.00
R1931:Dgkh	UTSW	14	78,853,945 (GRCm39)	missense	probably damaging	1.00
R2007:Dgkh	UTSW	14	78,840,489 (GRCm39)	missense	probably benign	0.09
R3747:Dgkh	UTSW	14	78,821,885 (GRCm39)	missense	probably damaging	1.00
R4446:Dgkh	UTSW	14	78,865,523 (GRCm39)	missense	probably damaging	1.00
R4475:Dgkh	UTSW	14	78,827,318 (GRCm39)	missense	possibly damaging	0.80
R4965:Dgkh	UTSW	14	78,861,861 (GRCm39)	missense	probably damaging	1.00
R4970:Dgkh	UTSW	14	78,856,077 (GRCm39)	missense	probably damaging	1.00
R5071:Dgkh	UTSW	14	78,841,972 (GRCm39)	missense	probably damaging	1.00
R5652:Dgkh	UTSW	14	78,865,201 (GRCm39)	missense	probably damaging	1.00
R5726:Dgkh	UTSW	14	78,862,342 (GRCm39)	missense	probably benign	0.16
R5773:Dgkh	UTSW	14	78,832,895 (GRCm39)	missense	probably damaging	1.00
R5855:Dgkh	UTSW	14	78,861,944 (GRCm39)	critical splice acceptor site	probably null
R6041:Dgkh	UTSW	14	78,825,067 (GRCm39)	missense	probably damaging	1.00
R6192:Dgkh	UTSW	14	78,865,504 (GRCm39)	nonsense	probably null
R6868:Dgkh	UTSW	14	78,862,293 (GRCm39)	missense	probably damaging	0.99
R6981:Dgkh	UTSW	14	78,865,182 (GRCm39)	nonsense	probably null
R7095:Dgkh	UTSW	14	78,865,224 (GRCm39)	missense	probably benign	0.07
R7473:Dgkh	UTSW	14	78,836,483 (GRCm39)	missense	probably benign	0.00
R7495:Dgkh	UTSW	14	78,816,239 (GRCm39)	missense	probably benign
R7711:Dgkh	UTSW	14	78,962,459 (GRCm39)	missense	probably benign
R7727:Dgkh	UTSW	14	78,832,585 (GRCm39)	critical splice donor site	probably null
R7823:Dgkh	UTSW	14	78,841,921 (GRCm39)	missense	probably benign
R7846:Dgkh	UTSW	14	78,856,026 (GRCm39)	missense	probably damaging	0.99
R7967:Dgkh	UTSW	14	78,857,256 (GRCm39)	missense	probably benign	0.10
R8085:Dgkh	UTSW	14	78,824,558 (GRCm39)	critical splice donor site	probably null
R8285:Dgkh	UTSW	14	78,865,566 (GRCm39)	missense	probably benign	0.18
R8669:Dgkh	UTSW	14	78,962,459 (GRCm39)	missense	probably benign
R9069:Dgkh	UTSW	14	78,853,957 (GRCm39)	missense	probably damaging	1.00
R9187:Dgkh	UTSW	14	78,832,601 (GRCm39)	missense	probably damaging	0.97
R9225:Dgkh	UTSW	14	78,962,507 (GRCm39)	missense	probably damaging	0.98
R9410:Dgkh	UTSW	14	78,862,293 (GRCm39)	missense	probably damaging	0.99
R9615:Dgkh	UTSW	14	78,813,370 (GRCm39)	missense	possibly damaging	0.85
R9761:Dgkh	UTSW	14	78,889,163 (GRCm39)	missense	probably damaging	1.00
X0022:Dgkh	UTSW	14	78,832,901 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTCAAATGTAGGGACGCATG -3'
(R):5'- TTAATCTTGTCCCGGGCTTG -3'

Sequencing Primer
(F):5'- AGGCAGAGTTCCAATTGTCTC -3'
(R):5'- CCCGGGCTTGTTTTTGCAG -3'

Posted On

2014-08-01