Mutagenetix > Incidental Mutation

Incidental Mutation 'R1931:Dgkh'

215396

Institutional Source

Beutler Lab

Gene Symbol

Dgkh

Ensembl Gene

ENSMUSG00000034731

Gene Name

diacylglycerol kinase, eta

Synonyms

5930402B05Rik

MMRRC Submission

039949-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1931 (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 78853945 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 265 (I265V)

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

probably damaging
Transcript: ENSMUST00000074729
AA Change: I398V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000074290
Gene: ENSMUSG00000034731
AA Change: I398V

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 damaging
Transcript: ENSMUST00000226342
AA Change: I398V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000227537
AA Change: I283V

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably damaging
Transcript: ENSMUST00000227767
AA Change: I265V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227820

Predicted Effect

probably damaging
Transcript: ENSMUST00000228362
AA Change: I265V

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.3%
20x: 92.8%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	G	6: 86,933,318 (GRCm39)	S430A	unknown	Het
Abhd16a	T	A	17: 35,319,991 (GRCm39)	F337L	probably benign	Het
Acsl1	C	A	8: 46,984,023 (GRCm39)	A514E	probably benign	Het
Adam29	T	C	8: 56,326,124 (GRCm39)	Y110C	probably damaging	Het
Adamts12	C	A	15: 11,270,685 (GRCm39)	Q647K	probably benign	Het
Adamts20	T	A	15: 94,301,891 (GRCm39)	H27L	probably benign	Het
Adamtsl1	A	G	4: 86,260,648 (GRCm39)	E961G	possibly damaging	Het
AW011738	T	C	4: 156,287,997 (GRCm39)		probably benign	Het
Bcl9	T	C	3: 97,112,460 (GRCm39)	M1332V	probably damaging	Het
Birc6	T	C	17: 74,872,977 (GRCm39)	I412T	probably damaging	Het
Cav1	A	T	6: 17,339,331 (GRCm39)	I139F	probably damaging	Het
Col4a4	A	C	1: 82,444,321 (GRCm39)		probably null	Het
Coro2a	A	T	4: 46,539,138 (GRCm39)	*544R	probably null	Het
Cox15	C	T	19: 43,735,224 (GRCm39)	R181H	probably benign	Het
Ddx23	G	A	15: 98,548,599 (GRCm39)	R370W	possibly damaging	Het
Dennd2c	A	G	3: 103,040,568 (GRCm39)	N278D	probably benign	Het
Dpp3	A	T	19: 4,967,888 (GRCm39)		probably benign	Het
Drc7	G	A	8: 95,797,881 (GRCm39)	R433H	possibly damaging	Het
Ece1	A	G	4: 137,666,074 (GRCm39)	K306R	probably benign	Het
Eif4b	T	C	15: 101,997,411 (GRCm39)	S309P	unknown	Het
Eml3	G	A	19: 8,914,507 (GRCm39)	V507M	probably benign	Het
Ezhip	T	C	X: 5,994,817 (GRCm39)	E66G	probably benign	Het
Fat1	C	T	8: 45,497,265 (GRCm39)	T4250M	possibly damaging	Het
Fezf1	T	G	6: 23,246,906 (GRCm39)	I309L	probably damaging	Het
Fsip2	T	A	2: 82,817,077 (GRCm39)	L4270H	probably damaging	Het
Gabra4	T	C	5: 71,795,580 (GRCm39)	K206E	probably damaging	Het
Gfm1	A	G	3: 67,363,918 (GRCm39)	K465E	probably benign	Het
Gpld1	A	T	13: 25,127,693 (GRCm39)	I32L	possibly damaging	Het
H4c12	A	T	13: 21,934,682 (GRCm39)		probably null	Het
Hoxd12	A	G	2: 74,505,857 (GRCm39)	T143A	probably benign	Het
Hoxd12	A	G	2: 74,505,875 (GRCm39)	T149A	probably benign	Het
Hspg2	T	A	4: 137,267,541 (GRCm39)	S2050T	probably damaging	Het
Il31ra	T	A	13: 112,677,756 (GRCm39)	N287I	probably damaging	Het
Itga4	G	A	2: 79,144,188 (GRCm39)		probably null	Het
Itpr2	A	G	6: 146,141,852 (GRCm39)	V1730A	probably benign	Het
Klkb1	T	A	8: 45,728,514 (GRCm39)	Q415L	probably benign	Het
Lcn10	A	G	2: 25,574,347 (GRCm39)	Y118C	probably damaging	Het
Lgi3	T	C	14: 70,773,708 (GRCm39)	V294A	probably damaging	Het
Lrp5	C	T	19: 3,660,131 (GRCm39)	V978I	probably benign	Het
Naaa	A	G	5: 92,425,894 (GRCm39)	V33A	probably benign	Het
Nckap5l	A	G	15: 99,325,142 (GRCm39)	F454L	probably damaging	Het
Nol10	A	G	12: 17,398,555 (GRCm39)	M1V	probably null	Het
Olfm1	G	A	2: 28,112,674 (GRCm39)		probably null	Het
Or2at4	G	T	7: 99,385,067 (GRCm39)	R239L	possibly damaging	Het
Or6c208	T	A	10: 129,223,745 (GRCm39)	M81K	probably benign	Het
Or7g30	T	C	9: 19,352,647 (GRCm39)	L146P	possibly damaging	Het
Osbp2	T	C	11: 3,676,333 (GRCm39)		probably null	Het
Osbpl1a	T	A	18: 13,038,251 (GRCm39)	Q269L	probably benign	Het
Papss2	T	A	19: 32,616,368 (GRCm39)	C191*	probably null	Het
Pbxip1	A	T	3: 89,354,984 (GRCm39)		probably null	Het
Pdp1	A	G	4: 11,962,074 (GRCm39)	I79T	probably benign	Het
Peg10	A	G	6: 4,755,778 (GRCm39)	Y118C	probably damaging	Het
Pnisr	A	G	4: 21,873,612 (GRCm39)	T452A	probably benign	Het
Polr2a	A	T	11: 69,626,201 (GRCm39)	Y1612N	unknown	Het
Polr3c	A	T	3: 96,626,614 (GRCm39)	L270H	probably damaging	Het
Prr11	A	T	11: 86,996,868 (GRCm39)	L32*	probably null	Het
Ptgfr	T	A	3: 151,540,831 (GRCm39)	T226S	probably benign	Het
Ptprz1	T	A	6: 23,007,354 (GRCm39)	V1639E	probably damaging	Het
Pttg1ip2	C	A	5: 5,502,019 (GRCm39)	W144C	probably benign	Het
Rps6kb1	A	G	11: 86,423,647 (GRCm39)	V111A	possibly damaging	Het
Sfxn1	A	T	13: 54,247,952 (GRCm39)	I226F	probably damaging	Het
Sh3pxd2a	A	G	19: 47,255,947 (GRCm39)	S924P	probably benign	Het
Slc16a5	A	T	11: 115,360,194 (GRCm39)	I126F	probably damaging	Het
Slc8a3	G	T	12: 81,361,220 (GRCm39)	T533N	probably damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Spata3	A	C	1: 85,949,783 (GRCm39)		probably benign	Het
St8sia6	A	G	2: 13,797,623 (GRCm39)	S48P	probably benign	Het
Stra6l	A	T	4: 45,882,698 (GRCm39)	R470*	probably null	Het
Stradb	A	C	1: 59,030,264 (GRCm39)	N173H	probably benign	Het
Sugp1	T	A	8: 70,524,190 (GRCm39)	D598E	probably benign	Het
Tekt2	T	C	4: 126,216,610 (GRCm39)		probably null	Het
Tiam2	C	T	17: 3,565,000 (GRCm39)	R1413C	possibly damaging	Het
Tmprss2	T	C	16: 97,370,262 (GRCm39)	S301G	probably benign	Het
Tnrc18	A	T	5: 142,762,079 (GRCm39)	N515K	unknown	Het
Togaram1	A	G	12: 65,013,709 (GRCm39)	Y320C	probably damaging	Het
Trim41	A	G	11: 48,698,319 (GRCm39)	V549A	probably damaging	Het
Ugt2b1	T	A	5: 87,065,700 (GRCm39)	L446F	probably damaging	Het
Unc5b	T	C	10: 60,608,348 (GRCm39)	T621A	probably benign	Het
Utp25	T	A	1: 192,800,617 (GRCm39)	K401I	probably damaging	Het
Vmn1r214	C	A	13: 23,219,494 (GRCm39)	H329Q	possibly damaging	Het
Vmn2r109	T	A	17: 20,774,072 (GRCm39)	K428*	probably null	Het
Vmn2r81	A	C	10: 79,129,328 (GRCm39)	I740L	probably damaging	Het
Wdfy3	A	G	5: 102,089,358 (GRCm39)	L612P	probably damaging	Het
Zfp109	G	A	7: 23,928,161 (GRCm39)	T424M	probably damaging	Het
Zfp735	A	T	11: 73,602,677 (GRCm39)	K540N	possibly 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
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'- AGAACTCGAGCAAGGTCATTG -3'
(R):5'- CTTGAGTTAACTATGGCACTCAAG -3'

Sequencing Primer
(F):5'- AAGGTCATTGCCGGTACCCAAG -3'
(R):5'- GGCACTCAAGTCAATTTTTACATAGG -3'

Posted On

2014-07-14