Mutagenetix > Incidental Mutations

Incidental Mutation 'R2275:Ehmt2'

242766

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

040274-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2275 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34898469-34914052 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34910715 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 951 (N951K)

Ref Sequence

ENSEMBL: ENSMUSP00000094955 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007249] [ENSMUST00000013931] [ENSMUST00000078061] [ENSMUST00000097342] [ENSMUST00000114033] [ENSMUST00000124846] [ENSMUST00000137071]

Predicted Effect

probably benign
Transcript: ENSMUST00000007249

SMART Domains

Protein: ENSMUSP00000007249
Gene: ENSMUSG00000007034

Domain	Start	End	E-Value	Type
transmembrane domain	34	56	N/A	INTRINSIC
low complexity region	93	102	N/A	INTRINSIC
transmembrane domain	226	248	N/A	INTRINSIC
transmembrane domain	250	272	N/A	INTRINSIC
Pfam:Choline_transpo	311	674	5.4e-119	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000013931
AA Change: N985K

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000013931
Gene: ENSMUSG00000013787
AA Change: N985K

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: ENSMUST00000078061
AA Change: N894K

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000077208
Gene: ENSMUSG00000013787
AA Change: N894K

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

possibly damaging
Transcript: ENSMUST00000097342
AA Change: N951K

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000094955
Gene: ENSMUSG00000013787
AA Change: N951K

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

possibly damaging
Transcript: ENSMUST00000114033
AA Change: N928K

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000109667
Gene: ENSMUSG00000013787
AA Change: N928K

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: ENSMUST00000124002

Predicted Effect

probably benign
Transcript: ENSMUST00000124846

SMART Domains

Protein: ENSMUSP00000121838
Gene: ENSMUSG00000013787

Domain	Start	End	E-Value	Type
low complexity region	115	138	N/A	INTRINSIC
low complexity region	204	215	N/A	INTRINSIC
ANK	258	287	2.52e-6	SMART
ANK	291	320	1.19e-2	SMART
ANK	324	354	4.71e-6	SMART
ANK	358	387	2.9e-6	SMART
ANK	391	420	1e0	SMART
Pfam:Ank	424	442	3.4e-4	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131915

Predicted Effect

probably benign
Transcript: ENSMUST00000137071

SMART Domains

Protein: ENSMUSP00000134749
Gene: ENSMUSG00000013787

Domain	Start	End	E-Value	Type
ANK	23	52	1.19e-2	SMART
ANK	56	86	4.71e-6	SMART
ANK	90	119	2.9e-6	SMART
low complexity region	143	154	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138500

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145201

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145624

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150786

Predicted Effect

probably benign
Transcript: ENSMUST00000172921

SMART Domains

Protein: ENSMUSP00000134089
Gene: ENSMUSG00000013787

Domain	Start	End	E-Value	Type
ANK	24	53	1.19e-2	SMART
ANK	57	87	4.71e-6	SMART
ANK	89	118	1e0	SMART
ANK	122	151	1.53e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173664

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013F07Rik	A	G	3: 108,542,503	N33D	possibly damaging	Het
2300003K06Rik	A	T	11: 99,837,841	C59S	possibly damaging	Het
Abca5	A	T	11: 110,275,281	N1556K	possibly damaging	Het
Ackr1	T	C	1: 173,332,485	N156D	probably benign	Het
Aco2	C	T	15: 81,895,264	R57C	probably benign	Het
Adamtsl3	A	T	7: 82,606,558	S1593C	probably benign	Het
Adgrb2	G	A	4: 130,006,854	G333D	probably damaging	Het
Arhgef7	T	A	8: 11,815,010	F374Y	possibly damaging	Het
Armc4	C	A	18: 7,223,676	G456W	probably benign	Het
Atxn7	T	A	14: 14,013,268	M62K	possibly damaging	Het
C87436	G	A	6: 86,445,600	R52H	probably damaging	Het
Cacna1g	T	A	11: 94,415,936	E1842V	probably damaging	Het
Cdh4	T	C	2: 179,890,847	S701P	probably damaging	Het
Cdr2	A	T	7: 120,958,509	H264Q	possibly damaging	Het
Cecr2	C	T	6: 120,756,741	S563L	probably benign	Het
Col12a1	A	T	9: 79,635,427	V2352E	probably damaging	Het
Col9a2	C	G	4: 121,054,258	R599G	probably damaging	Het
Crygs	C	T	16: 22,805,551	G102D	possibly damaging	Het
Csad	G	T	15: 102,187,122	R167S	probably damaging	Het
Dnlz	A	T	2: 26,351,471	C82S	probably damaging	Het
Emilin1	C	T	5: 30,917,738	P441L	possibly damaging	Het
Enpp2	A	C	15: 54,897,794	Y221D	probably damaging	Het
Exoc3l	A	T	8: 105,290,447		probably null	Het
F11	T	C	8: 45,252,147	D119G	possibly damaging	Het
Faiml	T	C	9: 99,229,559	Y149C	probably benign	Het
Fn1	C	T	1: 71,613,943	G1296R	probably null	Het
Glg1	A	T	8: 111,168,721	Y819*	probably null	Het
Gm11568	A	G	11: 99,858,244	S92G	unknown	Het
Gm28042	A	C	2: 120,036,829	Q465P	probably damaging	Het
Gpatch1	A	T	7: 35,288,678	S678T	probably benign	Het
Gpr158	A	T	2: 21,826,863	M925L	probably benign	Het
Hecw1	T	C	13: 14,346,068	T195A	probably benign	Het
Hoxd1	A	G	2: 74,764,157	K252R	probably damaging	Het
Iqck	G	A	7: 118,899,657	D173N	possibly damaging	Het
Kcnh1	T	G	1: 192,337,521	V358G	probably damaging	Het
Kifap3	T	A	1: 163,868,758	V652D	possibly damaging	Het
Knl1	C	A	2: 119,072,281	Q1488K	probably damaging	Het
Map4k1	T	A	7: 29,001,957	H729Q	probably damaging	Het
March1	T	A	8: 66,387,499	N311K	probably benign	Het
Mypn	A	G	10: 63,131,069	F943L	probably damaging	Het
Nkpd1	A	G	7: 19,523,897	I534V	probably benign	Het
Nrarp	T	C	2: 25,181,409	V100A	possibly damaging	Het
Nt5c1a	T	C	4: 123,216,080	F324S	probably damaging	Het
Ntrk2	T	A	13: 58,861,351	Y319N	probably damaging	Het
Olfr1170	A	G	2: 88,224,823	F70L	probably benign	Het
Parg	A	G	14: 32,295,238	D384G	probably damaging	Het
Pde7b	T	A	10: 20,400,419	*460L	probably null	Het
Pigr	G	T	1: 130,846,470	V396L	probably benign	Het
Pkhd1	A	G	1: 20,200,849	I3160T	possibly damaging	Het
Ppl	T	C	16: 5,094,552	S722G	probably benign	Het
Ppp1r26	A	G	2: 28,452,701	E781G	possibly damaging	Het
Rptor	T	A	11: 119,756,322	C246*	probably null	Het
Rusc2	G	A	4: 43,416,260	R522H	probably damaging	Het
Senp7	T	C	16: 56,184,783	S927P	probably damaging	Het
Serpinb6d	A	T	13: 33,671,428	M362L	probably benign	Het
Setx	GTGGCT	GT	2: 29,154,061		probably null	Het
Slc12a3	T	A	8: 94,333,287	I187N	possibly damaging	Het
Slc46a1	T	G	11: 78,466,423	S101A	probably benign	Het
Slc4a8	A	G	15: 100,807,402	M830V	probably benign	Het
Slco4a1	T	C	2: 180,464,736	L237P	possibly damaging	Het
Sned1	T	A	1: 93,281,642		probably null	Het
Tia1	A	G	6: 86,427,677	N298S	probably benign	Het
Tsr1	A	T	11: 74,904,827		probably null	Het
Ttc6	G	A	12: 57,702,298	V1339I	probably benign	Het
Tyrp1	A	T	4: 80,837,534	E180V	probably damaging	Het
Ubr3	T	C	2: 70,016,341	V1636A	probably benign	Het
Usp1	T	C	4: 98,929,842	L139P	probably damaging	Het
Vmn1r228	A	G	17: 20,776,545	L237P	probably damaging	Het
Vmn1r232	A	G	17: 20,914,203	L45P	probably benign	Het
Vmn2r2	T	C	3: 64,116,509	R884G	probably benign	Het
Vmn2r60	T	A	7: 42,136,827	Y351*	probably null	Het
Zbtb7a	G	A	10: 81,144,997	V342I	possibly damaging	Het
Zdhhc11	C	A	13: 73,973,752	N127K	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
R2212:Ehmt2	UTSW	17	34899365	missense	probably benign
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

Predicted Primers

PCR Primer
(F):5'- TTAGCCGAGATTGTTCTCCG -3'
(R):5'- TGTTCCAGGACAGTGAGTGG -3'

Sequencing Primer
(F):5'- CCGAGATTGTTCTCCGTGGTG -3'
(R):5'- AGGGGGAGTCTTCATGCC -3'

Posted On

2014-10-16