Mutagenetix > Incidental Mutation

Incidental Mutation 'R1771:Dgkh'

196628

Institutional Source

Beutler Lab

Gene Symbol

Dgkh

Ensembl Gene

ENSMUSG00000034731

Gene Name

diacylglycerol kinase, eta

Synonyms

5930402B05Rik

MMRRC Submission

039802-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1771 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78796789-78970169 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78846967 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 371 (V371A)

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: V504A

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000074290
Gene: ENSMUSG00000034731
AA Change: V504A

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: V504A

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000227537
AA Change: V389A

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably damaging
Transcript: ENSMUST00000227767
AA Change: V371A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227820

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228362
AA Change: V371A

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.2%
20x: 92.0%

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
Acss3	A	G	10: 106,773,061 (GRCm39)	S642P	probably damaging	Het
Adam30	T	C	3: 98,068,835 (GRCm39)	S95P	possibly damaging	Het
Ahnak	G	A	19: 8,991,117 (GRCm39)	V4134I	probably benign	Het
Ankrd13a	T	C	5: 114,941,649 (GRCm39)	V512A	probably benign	Het
Asph	A	T	4: 9,598,773 (GRCm39)	S149R	probably damaging	Het
Atp2b4	C	A	1: 133,660,131 (GRCm39)	V384L	probably damaging	Het
Atp8a1	A	G	5: 67,805,074 (GRCm39)	W1014R	probably damaging	Het
Cand1	A	C	10: 119,044,211 (GRCm39)	N1054K	probably benign	Het
Car15	A	T	16: 17,654,730 (GRCm39)	V96E	probably damaging	Het
Cd1d1	T	C	3: 86,905,972 (GRCm39)	E101G	possibly damaging	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Ceacam1	T	A	7: 25,171,469 (GRCm39)	T332S	probably benign	Het
Clca3a2	A	T	3: 144,787,171 (GRCm39)	V500E	probably benign	Het
Cul9	A	T	17: 46,848,738 (GRCm39)	M666K	probably benign	Het
Dennd3	A	G	15: 73,426,950 (GRCm39)	T776A	possibly damaging	Het
Dennd5a	T	C	7: 109,517,893 (GRCm39)	D581G	probably damaging	Het
Dhcr24	A	G	4: 106,435,450 (GRCm39)	T314A	probably benign	Het
Diaph1	G	T	18: 38,024,071 (GRCm39)	P589Q	unknown	Het
Disp2	C	T	2: 118,621,778 (GRCm39)	Q837*	probably null	Het
Dusp3	A	T	11: 101,875,561 (GRCm39)	M1K	probably null	Het
Ecpas	A	G	4: 58,879,100 (GRCm39)	I63T	probably damaging	Het
Eddm13	G	T	7: 6,280,541 (GRCm39)		probably null	Het
Erich3	A	C	3: 154,454,109 (GRCm39)	D625A	possibly damaging	Het
Fat2	G	A	11: 55,201,691 (GRCm39)	S461L	probably benign	Het
Fmn2	A	G	1: 174,436,342 (GRCm39)		probably benign	Het
Foxi1	A	G	11: 34,157,594 (GRCm39)	Y144H	probably damaging	Het
Ftcd	G	A	10: 76,423,202 (GRCm39)	V458M	probably damaging	Het
Gm3604	C	A	13: 62,517,888 (GRCm39)	G157*	probably null	Het
Gnpda1	C	T	18: 38,466,380 (GRCm39)	R79Q	probably benign	Het
Gpr65	T	A	12: 98,242,259 (GRCm39)	I304K	probably damaging	Het
Grem1	T	C	2: 113,580,021 (GRCm39)	E160G	probably benign	Het
Gria2	T	A	3: 80,599,608 (GRCm39)	K759*	probably null	Het
Gsg1l	A	G	7: 125,557,745 (GRCm39)	S128P	probably damaging	Het
Hdac1	A	T	4: 129,415,221 (GRCm39)	I240N	probably damaging	Het
Hic2	C	T	16: 17,076,578 (GRCm39)	T469M	probably benign	Het
Hoxc10	A	C	15: 102,875,522 (GRCm39)	D77A	probably damaging	Het
Itprid1	T	C	6: 55,875,132 (GRCm39)	S361P	probably benign	Het
Klhl14	T	A	18: 21,784,677 (GRCm39)	H250L	probably damaging	Het
Klk1b24	A	G	7: 43,837,653 (GRCm39)		probably null	Het
Letm1	T	A	5: 33,926,811 (GRCm39)	H162L	probably damaging	Het
Loxl3	A	T	6: 83,026,890 (GRCm39)	Y573F	probably damaging	Het
Macf1	A	T	4: 123,405,901 (GRCm39)	I330N	probably damaging	Het
Mchr1	T	A	15: 81,121,436 (GRCm39)	I62N	probably damaging	Het
Mcm8	C	T	2: 132,685,476 (GRCm39)	Q803*	probably null	Het
Msh3	T	G	13: 92,349,004 (GRCm39)	D1075A	probably benign	Het
Msh6	T	A	17: 88,291,950 (GRCm39)	V235D	probably benign	Het
Mthfd2l	A	T	5: 91,122,254 (GRCm39)	D253V	probably damaging	Het
Mtor	T	C	4: 148,555,081 (GRCm39)	V901A	possibly damaging	Het
Muc20	A	T	16: 32,614,222 (GRCm39)	I385N	probably damaging	Het
Myo6	G	T	9: 80,193,082 (GRCm39)	C829F	probably damaging	Het
Nbea	T	C	3: 55,841,940 (GRCm39)	I1914V	probably benign	Het
Ncor1	T	C	11: 62,217,938 (GRCm39)	E1462G	probably damaging	Het
Necab1	A	G	4: 15,111,267 (GRCm39)	Y54H	probably damaging	Het
Nlrp4b	A	G	7: 10,452,520 (GRCm39)	K15R	probably damaging	Het
Ntrk1	A	G	3: 87,696,937 (GRCm39)	S139P	probably benign	Het
Oas1d	T	C	5: 121,053,900 (GRCm39)	F120S	probably damaging	Het
Ofd1	A	G	X: 165,189,002 (GRCm39)	Y755H	probably benign	Het
Or10al2	A	G	17: 37,983,554 (GRCm39)	I213M	probably damaging	Het
Or13a25	A	G	7: 140,248,048 (GRCm39)	T276A	probably benign	Het
Or4f47	T	G	2: 111,973,065 (GRCm39)	Y258*	probably null	Het
Or5c1	T	A	2: 37,222,430 (GRCm39)	F224I	probably benign	Het
Or5p58	A	C	7: 107,694,816 (GRCm39)		probably null	Het
Or9s27	A	G	1: 92,516,837 (GRCm39)	I262V	probably benign	Het
Plekha6	T	C	1: 133,201,651 (GRCm39)	S355P	probably benign	Het
Prdm14	T	C	1: 13,189,082 (GRCm39)	K421E	probably damaging	Het
Prss36	A	G	7: 127,532,625 (GRCm39)	L731P	probably damaging	Het
Rad51d	A	G	11: 82,774,764 (GRCm39)	L97P	probably damaging	Het
Rbl1	C	A	2: 157,005,454 (GRCm39)		probably null	Het
Rnh1	G	T	7: 140,744,519 (GRCm39)	A52D	possibly damaging	Het
Rps24	A	G	14: 24,541,830 (GRCm39)	T6A	probably damaging	Het
Ryr2	A	C	13: 11,760,062 (GRCm39)		probably null	Het
Samd4	A	T	14: 47,326,532 (GRCm39)	N454I	probably damaging	Het
Sap130	T	C	18: 31,769,135 (GRCm39)	I32T	probably benign	Het
Sap30l	A	T	11: 57,696,925 (GRCm39)	N85I	probably damaging	Het
Sbf2	G	A	7: 110,060,353 (GRCm39)	Q204*	probably null	Het
Slc45a3	T	C	1: 131,904,694 (GRCm39)	W6R	possibly damaging	Het
Snx16	A	G	3: 10,484,221 (GRCm39)	V334A	probably damaging	Het
Soat1	C	T	1: 156,269,991 (GRCm39)	V143I	probably benign	Het
Sp8	T	A	12: 118,813,302 (GRCm39)	F386I	probably damaging	Het
Spag6	C	T	2: 18,738,928 (GRCm39)	S286L	probably benign	Het
Srpra	A	T	9: 35,124,147 (GRCm39)	N31I	possibly damaging	Het
Ssbp4	A	G	8: 71,051,502 (GRCm39)		probably null	Het
Stxbp2	G	T	8: 3,684,064 (GRCm39)	A124S	probably benign	Het
Tacc2	A	G	7: 130,343,970 (GRCm39)	K700R	probably damaging	Het
Tatdn2	A	T	6: 113,679,060 (GRCm39)		probably null	Het
Tecrl	G	A	5: 83,439,134 (GRCm39)	T226I	probably damaging	Het
Timeless	T	G	10: 128,083,477 (GRCm39)	V702G	probably benign	Het
Tjp1	A	T	7: 64,962,753 (GRCm39)	S1061R	probably benign	Het
Tmem39b	A	T	4: 129,587,011 (GRCm39)	C67S	probably damaging	Het
Tstd3	T	C	4: 21,759,475 (GRCm39)	Y99C	probably damaging	Het
Ttc39c	T	A	18: 12,817,881 (GRCm39)		probably null	Het
Ttll7	C	T	3: 146,600,160 (GRCm39)	P23S	probably benign	Het
Uba5	A	G	9: 103,927,107 (GRCm39)	F290S	probably damaging	Het
Ubap2l	T	C	3: 89,926,538 (GRCm39)	Y623C	probably damaging	Het
Ube3a	A	G	7: 58,925,714 (GRCm39)	E164G	probably damaging	Het
Ugcg	A	G	4: 59,207,775 (GRCm39)	N38S	probably benign	Het
Ugp2	G	A	11: 21,279,915 (GRCm39)	T283I	probably damaging	Het
Vmn1r55	A	T	7: 5,149,919 (GRCm39)	I168N	probably benign	Het
Wdr27	A	C	17: 15,112,703 (GRCm39)	S668A	probably damaging	Het
Wnt2	T	A	6: 18,008,696 (GRCm39)	N247I	probably damaging	Het
Zfp850	A	T	7: 27,684,700 (GRCm39)	C15*	probably null	Het
Zfp959	A	G	17: 56,204,677 (GRCm39)		probably null	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
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
R1956:Dgkh	UTSW	14	78,855,981 (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'- CTGAATAGACTCCATGCAGACGCC -3'
(R):5'- TGCCCTGTTTTCCAAATGTCACAAATG -3'

Sequencing Primer
(F):5'- TGTGACGAAAACTCCAGGTC -3'
(R):5'- GTCACAAATGGTACATTTCTGAAGC -3'

Posted On

2014-05-23