Mutagenetix > Incidental Mutations

Incidental Mutation 'R2212:Ehmt2'

239483

Institutional Source

Beutler Lab

Gene Symbol

Ehmt2

Ensembl Gene

ENSMUSG00000013787

Gene Name

euchromatic histone lysine N-methyltransferase 2

Synonyms

NG36, D17Ertd710e, G9a, KMT1C, Bat8

MMRRC Submission

040214-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2212 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34898469-34914052 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34899365 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 39 (S39G)

Ref Sequence

ENSEMBL: ENSMUSP00000109667 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013931] [ENSMUST00000052778] [ENSMUST00000078061] [ENSMUST00000097342] [ENSMUST00000114033] [ENSMUST00000148431] [ENSMUST00000173093]

Predicted Effect

probably benign
Transcript: ENSMUST00000013931
AA Change: S96G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000013931
Gene: ENSMUSG00000013787
AA Change: S96G

Domain	Start	End	E-Value	Type
low complexity region	2	47	N/A	INTRINSIC
coiled coil region	336	385	N/A	INTRINSIC
low complexity region	407	424	N/A	INTRINSIC
low complexity region	604	627	N/A	INTRINSIC
ANK	737	766	2.52e-6	SMART
ANK	770	799	1.19e-2	SMART
ANK	803	833	4.71e-6	SMART
ANK	837	866	2.9e-6	SMART
ANK	870	899	1e0	SMART
ANK	903	932	1.53e-5	SMART
PreSET	976	1075	2.44e-40	SMART
SET	1091	1214	4.08e-46	SMART
PostSET	1217	1233	2.84e-1	SMART
low complexity region	1245	1260	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000052778

SMART Domains

Protein: ENSMUSP00000057515
Gene: ENSMUSG00000049823

Domain	Start	End	E-Value	Type
BTB	33	127	1.5e-19	SMART
low complexity region	138	149	N/A	INTRINSIC
low complexity region	153	179	N/A	INTRINSIC
low complexity region	186	204	N/A	INTRINSIC
low complexity region	227	241	N/A	INTRINSIC
low complexity region	297	327	N/A	INTRINSIC
ZnF_C2H2	333	356	4.4e-2	SMART
ZnF_C2H2	359	381	2.27e-4	SMART
ZnF_C2H2	387	409	1.25e-1	SMART
ZnF_C2H2	415	438	4.54e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000078061
AA Change: S39G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000077208
Gene: ENSMUSG00000013787
AA Change: S39G

Domain	Start	End	E-Value	Type
low complexity region	2	23	N/A	INTRINSIC
coiled coil region	279	328	N/A	INTRINSIC
low complexity region	350	367	N/A	INTRINSIC
low complexity region	513	536	N/A	INTRINSIC
ANK	646	675	2.52e-6	SMART
ANK	679	708	1.19e-2	SMART
ANK	712	742	4.71e-6	SMART
ANK	746	775	2.9e-6	SMART
ANK	779	808	1e0	SMART
ANK	812	841	1.53e-5	SMART
PreSET	885	984	2.44e-40	SMART
SET	1000	1123	4.08e-46	SMART
PostSET	1126	1142	2.84e-1	SMART
low complexity region	1154	1169	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000097342
AA Change: S96G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000094955
Gene: ENSMUSG00000013787
AA Change: S96G

Domain	Start	End	E-Value	Type
low complexity region	2	47	N/A	INTRINSIC
coiled coil region	336	385	N/A	INTRINSIC
low complexity region	407	424	N/A	INTRINSIC
low complexity region	570	593	N/A	INTRINSIC
ANK	703	732	2.52e-6	SMART
ANK	736	765	1.19e-2	SMART
ANK	769	799	4.71e-6	SMART
ANK	803	832	2.9e-6	SMART
ANK	836	865	1e0	SMART
ANK	869	898	1.53e-5	SMART
PreSET	942	1041	2.44e-40	SMART
SET	1057	1180	4.08e-46	SMART
PostSET	1183	1199	2.84e-1	SMART
low complexity region	1211	1226	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114033
AA Change: S39G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000109667
Gene: ENSMUSG00000013787
AA Change: S39G

Domain	Start	End	E-Value	Type
low complexity region	2	23	N/A	INTRINSIC
coiled coil region	279	328	N/A	INTRINSIC
low complexity region	350	367	N/A	INTRINSIC
low complexity region	547	570	N/A	INTRINSIC
ANK	680	709	2.52e-6	SMART
ANK	713	742	1.19e-2	SMART
ANK	746	776	4.71e-6	SMART
ANK	780	809	2.9e-6	SMART
ANK	813	842	1e0	SMART
ANK	846	875	1.53e-5	SMART
PreSET	919	1018	2.44e-40	SMART
SET	1034	1157	4.08e-46	SMART
PostSET	1160	1176	2.84e-1	SMART
low complexity region	1188	1203	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146418

Predicted Effect

probably benign
Transcript: ENSMUST00000148431

SMART Domains

Protein: ENSMUSP00000120009
Gene: ENSMUSG00000024371

Domain	Start	End	E-Value	Type
VWA	33	187	2.33e0	SMART
Tryp_SPc	191	470	4.43e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173093

SMART Domains

Protein: ENSMUSP00000133903
Gene: ENSMUSG00000049823

Domain	Start	End	E-Value	Type
Pfam:BTB	23	68	2e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174279

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174880

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a methyltransferase that methylates lysine residues of histone H3. Methylation of H3 at lysine 9 by this protein results in recruitment of additional epigenetic regulators and repression of transcription. This gene was initially thought to be two different genes, NG36 and G9a, adjacent to each other in the HLA locus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality around E9.5-E12.5. Mutant embryos are developmentally delayed. Conditional deletion in germ cells results in infertility and arrest of meiosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	A	G	18: 24,470,920	Y6C	probably damaging	Het
3425401B19Rik	T	A	14: 32,661,602	Q802L	probably benign	Het
Adarb2	T	C	13: 8,752,618	F643S	probably damaging	Het
Angptl4	A	G	17: 33,775,418	I401T	probably damaging	Het
Ap2a2	T	A	7: 141,598,776	N105K	probably benign	Het
Atp8b4	C	A	2: 126,375,757	W613L	probably damaging	Het
Coq10a	A	G	10: 128,365,129	V93A	possibly damaging	Het
Cyp4f39	A	T	17: 32,487,063	E376V	possibly damaging	Het
Deup1	A	T	9: 15,599,843	D213E	probably benign	Het
Eya1	T	A	1: 14,274,209		probably null	Het
Fam92a	A	G	4: 12,171,696		probably null	Het
Fcna	G	C	2: 25,627,493	P49A	probably damaging	Het
Flnb	AAGGAG	AAG	14: 7,881,652		probably benign	Het
Fscn2	G	T	11: 120,361,591		probably benign	Het
Gckr	T	A	5: 31,300,867		probably null	Het
Golgb1	A	G	16: 36,887,347	K68E	probably damaging	Het
H2-M11	G	A	17: 36,548,930	V272M	probably damaging	Het
Hace1	T	A	10: 45,648,675	D234E	possibly damaging	Het
Il18r1	A	T	1: 40,491,067	D318V	probably damaging	Het
Il4i1	T	C	7: 44,836,658	L22P	probably damaging	Het
Kcnq3	A	T	15: 66,020,293	F411Y	probably benign	Het
Kcnt2	A	G	1: 140,530,800	Y775C	probably damaging	Het
Krt84	A	C	15: 101,532,538	V73G	probably benign	Het
Lcp2	A	C	11: 34,070,995	D117A	probably benign	Het
Lemd1	C	A	1: 132,228,286	T22K	probably benign	Het
Mdm4	T	C	1: 132,994,522	D294G	probably damaging	Het
Mep1a	G	A	17: 43,477,263	A634V	probably benign	Het
Myh15	A	G	16: 49,138,732	D989G	probably benign	Het
Myo1g	G	T	11: 6,517,870	H188Q	possibly damaging	Het
Nsmaf	C	A	4: 6,396,732	L918F	probably damaging	Het
Olfr1396	C	T	11: 49,113,216	C170Y	probably damaging	Het
Olfr561	T	C	7: 102,774,755	L77P	possibly damaging	Het
Olfr635	T	C	7: 103,979,402	L76P	probably damaging	Het
Olfr963	T	A	9: 39,669,228	M57K	probably damaging	Het
Pfkfb2	A	T	1: 130,707,532	N97K	probably damaging	Het
Phlda1	A	T	10: 111,507,168	E255V	probably damaging	Het
Pla2g4f	T	C	2: 120,303,106	S579G	probably benign	Het
Plcz1	C	T	6: 140,002,081	R525Q	probably damaging	Het
Ppargc1b	G	A	18: 61,311,220	Q291*	probably null	Het
Ppef2	T	G	5: 92,228,722	S649R	probably damaging	Het
Ppp1r3b	A	G	8: 35,384,225	T73A	possibly damaging	Het
Prss43	G	C	9: 110,829,464	Q277H	probably damaging	Het
Rusc2	T	G	4: 43,415,935	S414A	probably damaging	Het
Serpina3j	G	A	12: 104,314,726	D53N	probably damaging	Het
Sez6l	A	G	5: 112,475,361	L108P	possibly damaging	Het
Slc1a7	A	G	4: 108,010,994	E497G	probably benign	Het
Spag8	T	A	4: 43,651,606	S423C	probably damaging	Het
Spata13	A	G	14: 60,706,723	T522A	probably benign	Het
Spryd3	A	G	15: 102,130,276		probably null	Het
Sry	T	A	Y: 2,663,339	N107I	probably damaging	Het
St6galnac1	A	G	11: 116,765,856	W486R	probably damaging	Het
Syt1	G	T	10: 108,504,414	P348T	possibly damaging	Het
Taok2	T	C	7: 126,870,858	I933V	possibly damaging	Het
Tex9	C	A	9: 72,477,758	Q265H	possibly damaging	Het
Tmem63a	G	A	1: 180,963,114	D446N	possibly damaging	Het
Trim59	T	C	3: 69,037,543	T155A	probably benign	Het
Trim69	T	C	2: 122,178,644	V395A	probably benign	Het
Tusc1	C	A	4: 93,334,936	R162L	probably damaging	Het
Ubash3a	A	T	17: 31,218,034	Q208H	probably damaging	Het
Ubn2	A	G	6: 38,498,739	T1211A	probably benign	Het
Vmn2r110	A	T	17: 20,573,947		probably null	Het
Vrk3	C	T	7: 44,775,442	T427M	probably benign	Het
Zfyve28	C	T	5: 34,199,684	M723I	probably benign	Het
Zmynd8	A	T	2: 165,815,451	M533K	probably damaging	Het

Other mutations in Ehmt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00973:Ehmt2	APN	17	34910815	missense	probably damaging	1.00
IGL02398:Ehmt2	APN	17	34908479	missense	probably damaging	1.00
IGL02878:Ehmt2	APN	17	34910767	missense	probably damaging	1.00
IGL02928:Ehmt2	APN	17	34910822	missense	probably damaging	1.00
IGL03117:Ehmt2	APN	17	34906811	missense	possibly damaging	0.54
R0630:Ehmt2	UTSW	17	34899842	missense	probably benign	0.02
R0778:Ehmt2	UTSW	17	34905418	missense	probably damaging	0.99
R0909:Ehmt2	UTSW	17	34906504	missense	possibly damaging	0.95
R1402:Ehmt2	UTSW	17	34906781	missense	probably benign	0.21
R1402:Ehmt2	UTSW	17	34906781	missense	probably benign	0.21
R1405:Ehmt2	UTSW	17	34906577	missense	probably benign
R1405:Ehmt2	UTSW	17	34906577	missense	probably benign
R1693:Ehmt2	UTSW	17	34906410	missense	possibly damaging	0.88
R1855:Ehmt2	UTSW	17	34910776	missense	probably damaging	1.00
R2275:Ehmt2	UTSW	17	34910715	missense	possibly damaging	0.95
R3761:Ehmt2	UTSW	17	34913731	missense	probably damaging	0.97
R3827:Ehmt2	UTSW	17	34906765	missense	possibly damaging	0.95
R3915:Ehmt2	UTSW	17	34903467	missense	probably damaging	0.99
R4303:Ehmt2	UTSW	17	34908748	missense	possibly damaging	0.92
R4529:Ehmt2	UTSW	17	34913731	missense	probably damaging	0.97
R4651:Ehmt2	UTSW	17	34913814	missense	probably damaging	1.00
R4825:Ehmt2	UTSW	17	34906964	missense	probably benign
R5061:Ehmt2	UTSW	17	34899091	nonsense	probably null
R5158:Ehmt2	UTSW	17	34911664	missense	probably damaging	1.00
R5298:Ehmt2	UTSW	17	34899091	nonsense	probably null
R5299:Ehmt2	UTSW	17	34899091	nonsense	probably null
R5523:Ehmt2	UTSW	17	34899091	nonsense	probably null
R5524:Ehmt2	UTSW	17	34899091	nonsense	probably null
R5727:Ehmt2	UTSW	17	34906032	missense	possibly damaging	0.75
R5755:Ehmt2	UTSW	17	34908238	missense	probably benign	0.05
R5786:Ehmt2	UTSW	17	34910743	missense	probably damaging	1.00
R5951:Ehmt2	UTSW	17	34899381	missense	probably benign
R6036:Ehmt2	UTSW	17	34899091	nonsense	probably null
R6162:Ehmt2	UTSW	17	34899091	nonsense	probably null
R6708:Ehmt2	UTSW	17	34899899	nonsense	probably null
R6889:Ehmt2	UTSW	17	34912772	missense	probably damaging	1.00
R6943:Ehmt2	UTSW	17	34911430	missense	probably damaging	1.00
R7470:Ehmt2	UTSW	17	34899396	missense	possibly damaging	0.67
R8061:Ehmt2	UTSW	17	34905927	missense	possibly damaging	0.66
R8095:Ehmt2	UTSW	17	34907769	missense	probably damaging	1.00
R8169:Ehmt2	UTSW	17	34903363	missense	probably benign
R8175:Ehmt2	UTSW	17	34911420	missense	probably damaging	1.00
R8244:Ehmt2	UTSW	17	34905262	missense	probably damaging	1.00
R8350:Ehmt2	UTSW	17	34908691	missense	probably damaging	1.00
R8357:Ehmt2	UTSW	17	34905161	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- GAAGCCTGCTCTCGCTGC -3'
(R):5'- CAGGCTCTCGGGTTCGTC -3'

Sequencing Primer
(F):5'- AGGGCCCAGGCGTCTTG -3'
(R):5'- TTCGTCCCCGATGAGTGATGC -3'

Posted On

2014-10-15