Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4445001:Dgkh'

555427

Institutional Source

Beutler Lab

Gene Symbol

Dgkh

Ensembl Gene

ENSMUSG00000034731

Gene Name

diacylglycerol kinase, eta

Synonyms

5930402B05Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4445001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78558750-78732776 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 78575942 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 1032 (I1032N)

Ref Sequence

ENSEMBL: ENSMUSP00000154554 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000074729

SMART Domains

Protein: ENSMUSP00000074290
Gene: ENSMUSG00000034731

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

probably benign
Transcript: ENSMUST00000226342

Predicted Effect

probably benign
Transcript: ENSMUST00000227537

Predicted Effect

unknown
Transcript: ENSMUST00000227767
AA Change: H1030Q

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228362
AA Change: I1032N

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 93.5%
3x: 90.8%
10x: 84.5%
20x: 70.9%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	C	11: 110,075,551	K419E	probably damaging	Het
Adam7	T	A	14: 68,509,748	K587N	possibly damaging	Het
Agl	T	C	3: 116,771,460	M382V		Het
Agpat3	A	T	10: 78,274,093	F341I	possibly damaging	Het
Ampd2	A	T	3: 108,075,012	L767Q	probably damaging	Het
Arhgap28	A	T	17: 67,896,235	D124E	possibly damaging	Het
Arhgap32	T	C	9: 32,260,856	L1644P	probably damaging	Het
Asic4	T	C	1: 75,451,127	V99A	probably benign	Het
Asns	T	A	6: 7,689,277	N75I	probably damaging	Het
Atp10a	A	G	7: 58,803,467	D798G	probably damaging	Het
Atp8a1	A	G	5: 67,622,660	V1145A		Het
BC017158	A	G	7: 128,276,534	V243A	probably benign	Het
Ccdc171	A	G	4: 83,661,747	Q577R	probably damaging	Het
Cd247	T	A	1: 165,861,036	D154E	probably damaging	Het
Ceacam1	A	T	7: 25,476,456	N104K	probably damaging	Het
Chfr	A	G	5: 110,151,677	D312G	possibly damaging	Het
Ddb1	C	A	19: 10,625,970	L881I	probably damaging	Het
Efcab6	A	T	15: 83,904,267	V942D	probably benign	Het
Fmo5	A	G	3: 97,651,528	T435A	probably benign	Het
Fpr1	T	C	17: 17,876,893	Q278R	probably benign	Het
Fzr1	C	T	10: 81,369,394	W256*	probably null	Het
Gabrb1	T	C	5: 72,108,782	S261P	probably damaging	Het
Galr2	G	T	11: 116,281,648	A55S	probably benign	Het
Gbp2	A	T	3: 142,637,466	K581N	probably benign	Het
Gm7682	T	G	5: 94,448,507	W468G	probably benign	Het
Gria1	A	T	11: 57,185,838	Y89F	probably damaging	Het
Ibsp	T	A	5: 104,302,304	I26N	possibly damaging	Het
Igf1r	T	C	7: 68,207,463	F1058L	probably damaging	Het
Ighv1-16	A	C	12: 114,666,060	C36G	probably benign	Het
Igll1	T	C	16: 16,860,919	T176A	probably benign	Het
Ilkap	T	C	1: 91,385,345	T143A	probably benign	Het
Kdm3b	A	T	18: 34,793,115	K103*	probably null	Het
Mphosph9	A	G	5: 124,298,790	I497T	possibly damaging	Het
Mrgpra3	G	A	7: 47,590,160	T6I	possibly damaging	Het
Mrpl38	T	C	11: 116,132,558		probably null	Het
Myo3a	A	T	2: 22,542,415	E813V	possibly damaging	Het
Myo7b	G	T	18: 31,959,466	Q2093K	possibly damaging	Het
Myo7b	T	C	18: 31,962,352	K1851R	probably damaging	Het
P3h2	T	A	16: 25,984,999	D339V	probably benign	Het
Pcdhb6	C	A	18: 37,335,247	P407Q	possibly damaging	Het
Plch2	C	A	4: 155,009,026	R153L	probably damaging	Het
Plppr4	G	A	3: 117,360,308		probably benign	Het
Ppp1r3a	A	G	6: 14,717,777	F1046S	probably damaging	Het
Prkacb	A	T	3: 146,755,691	L107M	probably benign	Het
Ranbp17	A	G	11: 33,481,020		probably null	Het
Rasl11b	C	A	5: 74,197,333	P88Q	probably damaging	Het
Rcc2	A	G	4: 140,721,149	E503G	possibly damaging	Het
Rnf216	T	A	5: 143,086,003	K407N	probably damaging	Het
Scrn3	G	A	2: 73,318,329	M81I	possibly damaging	Het
Scube2	T	C	7: 109,809,180	T687A	probably benign	Het
Serpinb10	T	A	1: 107,535,998	F3L	probably benign	Het
Sgcb	C	T	5: 73,639,812	V202I	probably damaging	Het
Sgce	A	G	6: 4,689,654	V429A	possibly damaging	Het
Sh3rf2	T	C	18: 42,153,164	V574A	probably benign	Het
Sncaip	T	C	18: 52,868,944	L179S	probably damaging	Het
Sntg2	A	T	12: 30,312,572	D58E	probably damaging	Het
Taar3	T	C	10: 23,949,688	I44T	possibly damaging	Het
Tmem87b	G	A	2: 128,831,471	V227I	probably benign	Het
Tnfsf9	T	C	17: 57,105,517	L29P	possibly damaging	Het
Tnip2	T	C	5: 34,496,871	H391R	probably benign	Het
Traf5	A	G	1: 191,997,807	Y125H		Het
Ttc23	T	G	7: 67,667,213	I77M	probably damaging	Het
Ube2l3	T	C	16: 17,160,172	N43S	probably benign	Het
Vars2	A	T	17: 35,666,211	C142*	probably null	Het
Vmn2r15	A	C	5: 109,287,142	D565E	probably damaging	Het
Vmn2r56	C	T	7: 12,715,226		probably null	Het
Vmn2r79	A	T	7: 87,002,200	D269V	possibly damaging	Het
Vmn2r85	A	T	10: 130,425,703	M255K	probably benign	Het
Wfdc6a	T	A	2: 164,579,826	*137C	probably null	Het
Wipi2	T	C	5: 142,666,884	V417A	probably benign	Het
Xirp2	G	T	2: 67,509,772	V786L	possibly damaging	Het
Zdhhc13	G	A	7: 48,795,949	G26S	probably benign	Het
Zscan25	T	A	5: 145,290,612	V362D	probably damaging	Het

Other mutations in Dgkh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00654:Dgkh	APN	14	78609593	missense	possibly damaging	0.92
IGL00767:Dgkh	APN	14	78587261	splice site	probably benign
IGL00787:Dgkh	APN	14	78618514	splice site	probably benign
IGL01503:Dgkh	APN	14	78616270	missense	possibly damaging	0.96
IGL02308:Dgkh	APN	14	78587576	missense	probably benign	0.01
IGL02707:Dgkh	APN	14	78585651	missense	possibly damaging	0.75
IGL02987:Dgkh	APN	14	78589872	critical splice donor site	probably null
IGL03058:Dgkh	APN	14	78627797	missense	probably benign	0.23
IGL03341:Dgkh	APN	14	78595491	splice site	probably benign
PIT1430001:Dgkh	UTSW	14	78581513	missense	probably damaging	1.00
R0153:Dgkh	UTSW	14	78570129	nonsense	probably null
R0730:Dgkh	UTSW	14	78584479	missense	probably damaging	0.99
R1136:Dgkh	UTSW	14	78624889	missense	probably damaging	1.00
R1162:Dgkh	UTSW	14	78624451	missense	probably damaging	1.00
R1689:Dgkh	UTSW	14	78618544	missense	possibly damaging	0.86
R1771:Dgkh	UTSW	14	78609527	missense	probably damaging	1.00
R1861:Dgkh	UTSW	14	78578792	missense	probably benign	0.04
R1916:Dgkh	UTSW	14	78595223	missense	probably damaging	0.97
R1930:Dgkh	UTSW	14	78616505	missense	probably damaging	1.00
R1931:Dgkh	UTSW	14	78616505	missense	probably damaging	1.00
R1956:Dgkh	UTSW	14	78618541	missense	probably damaging	1.00
R2007:Dgkh	UTSW	14	78603049	missense	probably benign	0.09
R3747:Dgkh	UTSW	14	78584445	missense	probably damaging	1.00
R4446:Dgkh	UTSW	14	78628083	missense	probably damaging	1.00
R4475:Dgkh	UTSW	14	78589878	missense	possibly damaging	0.80
R4965:Dgkh	UTSW	14	78624421	missense	probably damaging	1.00
R4970:Dgkh	UTSW	14	78618637	missense	probably damaging	1.00
R5071:Dgkh	UTSW	14	78604532	missense	probably damaging	1.00
R5652:Dgkh	UTSW	14	78627761	missense	probably damaging	1.00
R5726:Dgkh	UTSW	14	78624902	missense	probably benign	0.16
R5773:Dgkh	UTSW	14	78595455	missense	probably damaging	1.00
R5855:Dgkh	UTSW	14	78624504	critical splice acceptor site	probably null
R6041:Dgkh	UTSW	14	78587627	missense	probably damaging	1.00
R6192:Dgkh	UTSW	14	78628064	nonsense	probably null
R6868:Dgkh	UTSW	14	78624853	missense	probably damaging	0.99
R6981:Dgkh	UTSW	14	78627742	nonsense	probably null
R7095:Dgkh	UTSW	14	78627784	missense	probably benign	0.07
R7473:Dgkh	UTSW	14	78599043	missense	probably benign	0.00
R7495:Dgkh	UTSW	14	78578799	missense	probably benign
R7711:Dgkh	UTSW	14	78725019	missense	probably benign
R7727:Dgkh	UTSW	14	78595145	critical splice donor site	probably null
R7823:Dgkh	UTSW	14	78604481	missense	probably benign
R7846:Dgkh	UTSW	14	78618586	missense	probably damaging	0.99
R7967:Dgkh	UTSW	14	78619816	missense	probably benign	0.10
R8085:Dgkh	UTSW	14	78587118	critical splice donor site	probably null
R8285:Dgkh	UTSW	14	78628126	missense	probably benign	0.18
R8669:Dgkh	UTSW	14	78725019	missense	probably benign
R9069:Dgkh	UTSW	14	78616517	missense	probably damaging	1.00
R9187:Dgkh	UTSW	14	78595161	missense	probably damaging	0.97
R9225:Dgkh	UTSW	14	78725067	missense	probably damaging	0.98
R9410:Dgkh	UTSW	14	78624853	missense	probably damaging	0.99
R9615:Dgkh	UTSW	14	78575930	missense	possibly damaging	0.85
R9761:Dgkh	UTSW	14	78651723	missense	probably damaging	1.00
X0022:Dgkh	UTSW	14	78595461	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATAATGCAAGCCAAGCTGG -3'
(R):5'- TCTGTAACCTGCATGGGGAG -3'

Sequencing Primer
(F):5'- GAAGCACACGACAGAGGACTC -3'
(R):5'- GTCGAAGCATCTTCTGTCACCG -3'

Posted On

2019-06-07