Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00654:Dgkh'

10140

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL00654

Quality Score

Status

Chromosome

Chromosomal Location

78796789-78970169 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 78847033 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 367 (M367R)

Ref Sequence

ENSEMBL: ENSMUSP00000154107 (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
AA Change: M482R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000074290
Gene: ENSMUSG00000034731
AA Change: M482R

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
AA Change: M482R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227537
AA Change: M367R

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227767
AA Change: M349R

PolyPhen 2 Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227820

Predicted Effect

probably benign
Transcript: ENSMUST00000228362
AA Change: M349R

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam28	T	C	14: 68,886,877 (GRCm39)	T46A	probably benign	Het
Cmya5	G	A	13: 93,230,669 (GRCm39)	S1473L	probably benign	Het
Crygd	C	T	1: 65,101,250 (GRCm39)	R115Q	probably benign	Het
Dcbld1	A	C	10: 52,188,945 (GRCm39)	I186L	probably benign	Het
Myb	T	C	10: 21,017,725 (GRCm39)	D622G	probably damaging	Het
Nbeal1	A	G	1: 60,234,170 (GRCm39)		probably benign	Het
Nlrp14	G	T	7: 106,795,351 (GRCm39)	L211F	probably damaging	Het
Pbrm1	T	A	14: 30,754,361 (GRCm39)		probably benign	Het
Pcdhb13	A	T	18: 37,576,774 (GRCm39)	D384V	possibly damaging	Het
Ppl	T	C	16: 4,905,172 (GRCm39)	I1708V	possibly damaging	Het
Prdx1	G	A	4: 116,550,162 (GRCm39)	D115N	probably benign	Het
Prdx1	C	T	4: 116,550,147 (GRCm39)	R110C	probably benign	Het
Prep	C	T	10: 44,991,269 (GRCm39)	R312W	probably damaging	Het
Rpap2	A	T	5: 107,751,497 (GRCm39)		probably benign	Het
Rubcn	A	T	16: 32,644,747 (GRCm39)		probably null	Het
Sumf2	G	T	5: 129,882,918 (GRCm39)		probably benign	Het
Tek	A	G	4: 94,715,538 (GRCm39)	T359A	probably benign	Het
Thrap3	C	T	4: 126,059,371 (GRCm39)	G892S	probably benign	Het
Tlr12	C	T	4: 128,511,233 (GRCm39)	G339E	probably benign	Het
Usp39	A	G	6: 72,305,607 (GRCm39)	L392P	probably damaging	Het
Wbp2nl	T	C	15: 82,198,411 (GRCm39)	V316A	probably benign	Het

Other mutations in Dgkh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-12-06