Mutagenetix > Incidental Mutations

Incidental Mutation 'R4651:Ehmt2'

351336

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

041911-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4651 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34898469-34914052 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 34913814 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 1171 (N1171K)

Ref Sequence

ENSEMBL: ENSMUSP00000077208 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007249] [ENSMUST00000013931] [ENSMUST00000078061] [ENSMUST00000097342] [ENSMUST00000114033] [ENSMUST00000137071] [ENSMUST00000169230]

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

unknown
Transcript: ENSMUST00000013931
AA Change: N1262K

SMART Domains

Protein: ENSMUSP00000013931
Gene: ENSMUSG00000013787
AA Change: N1262K

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 damaging
Transcript: ENSMUST00000078061
AA Change: N1171K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000077208
Gene: ENSMUSG00000013787
AA Change: N1171K

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

unknown
Transcript: ENSMUST00000097342
AA Change: N1228K

SMART Domains

Protein: ENSMUSP00000094955
Gene: ENSMUSG00000013787
AA Change: N1228K

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

unknown
Transcript: ENSMUST00000114033
AA Change: N1205K

SMART Domains

Protein: ENSMUSP00000109667
Gene: ENSMUSG00000013787
AA Change: N1205K

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: 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: ENSMUST00000145201

Predicted Effect

probably benign
Transcript: ENSMUST00000169230

SMART Domains

Protein: ENSMUSP00000132965
Gene: ENSMUSG00000007034

Domain	Start	End	E-Value	Type
transmembrane domain	74	96	N/A	INTRINSIC
transmembrane domain	98	120	N/A	INTRINSIC
Pfam:Choline_transpo	157	524	3.9e-129	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173664

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

97% (98/101)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
4933409G03Rik	G	A	2: 68,606,215	E168K	unknown	Het
Ahnak2	T	G	12: 112,774,837	S128R	possibly damaging	Het
Ankrd26	T	C	6: 118,515,826	D1319G	probably benign	Het
Ankrd35	T	C	3: 96,684,027	V543A	probably benign	Het
Ano10	A	T	9: 122,261,115	Y377*	probably null	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Atp10b	G	A	11: 43,194,645	G284S	probably damaging	Het
Atp5c1	A	G	2: 10,063,476	F180S	probably damaging	Het
Btnl4	A	G	17: 34,472,628	S296P	probably benign	Het
Cast	A	G	13: 74,746,014	S171P	probably benign	Het
Catsperb	G	A	12: 101,541,512	A513T	probably benign	Het
Ccnf	C	A	17: 24,231,786	R406L	probably damaging	Het
Ceacam12	A	G	7: 18,067,434	T113A	probably damaging	Het
Cipc	T	C	12: 86,962,090	V241A	probably benign	Het
Col12a1	A	T	9: 79,612,946	D2815E	probably damaging	Het
Cpox	G	T	16: 58,670,687	R87L	possibly damaging	Het
Cttnbp2	A	G	6: 18,434,038	I607T	possibly damaging	Het
Cux1	A	T	5: 136,567,229	N4K	probably damaging	Het
Cyp3a25	T	C	5: 145,994,891	T136A	probably benign	Het
Dhx58	T	A	11: 100,701,359	N288Y	probably damaging	Het
Dnah10	T	C	5: 124,729,143	Y127H	probably benign	Het
Dnd1	G	A	18: 36,765,061		probably benign	Het
Fanci	T	A	7: 79,435,256	M838K	possibly damaging	Het
Flot1	T	C	17: 35,832,544		probably benign	Het
Gad2	A	T	2: 22,668,362	D364V	probably damaging	Het
Gm10375	C	A	14: 43,606,869		probably null	Het
Gm9996	T	A	10: 29,143,758		probably benign	Het
Gnat3	T	A	5: 18,015,570	L247H	probably damaging	Het
Ip6k3	C	T	17: 27,145,291	C261Y	probably damaging	Het
Irgc1	C	A	7: 24,432,813	R193L	probably damaging	Het
Kalrn	G	T	16: 34,176,391	P1477Q	probably damaging	Het
Kyat1	G	T	2: 30,194,064	H15N	probably benign	Het
Lamc1	T	G	1: 153,228,777	S59R	probably damaging	Het
Llgl1	A	G	11: 60,708,651	D486G	possibly damaging	Het
Lrrc9	T	C	12: 72,477,386	W790R	probably damaging	Het
Lsm2	T	A	17: 34,985,595		probably benign	Het
Med8	A	T	4: 118,410,892	E5V	probably damaging	Het
Mefv	A	G	16: 3,717,818	L82P	probably damaging	Het
Mettl3	T	A	14: 52,295,092	I545F	probably damaging	Het
Naa20	CTCTAGA	C	2: 145,911,832		probably benign	Het
Ncapg2	T	A	12: 116,425,787	N342K	probably damaging	Het
Ndufaf6	T	A	4: 11,062,070	Y187F	probably damaging	Het
Nomo1	T	A	7: 46,068,442	I799N	probably damaging	Het
Obscn	G	A	11: 59,038,877	R5824C	probably damaging	Het
Olfr1310	G	T	2: 112,008,250	S312Y	probably damaging	Het
Olfr430	A	G	1: 174,069,828	I177V	possibly damaging	Het
Olfr807	T	C	10: 129,755,418	I11V	probably benign	Het
Olfr849	T	A	9: 19,441,295	C127*	probably null	Het
Pgm3	T	A	9: 86,558,470	R389S	probably benign	Het
Pkd2l2	A	T	18: 34,409,836	R20*	probably null	Het
Pkhd1	T	A	1: 20,381,523	I2183F	probably damaging	Het
Ppp4r3a	T	A	12: 101,082,911		probably benign	Het
Prpf38b	G	A	3: 108,904,092		probably benign	Het
Prpf4b	A	T	13: 34,899,971	M908L	probably benign	Het
Prps2	T	C	X: 167,352,292	D183G	probably damaging	Het
Prrc2c	A	T	1: 162,723,274	H40Q	probably damaging	Het
Ptprk	T	C	10: 28,263,690	I137T	probably damaging	Het
Rrnad1	T	C	3: 87,927,672	H107R	probably benign	Het
Sdr42e1	T	C	8: 117,663,621	T94A	probably benign	Het
Setd2	A	G	9: 110,594,132	D2085G	possibly damaging	Het
Sgce	T	C	6: 4,689,560		probably benign	Het
Shisa3	A	G	5: 67,608,649	D81G	probably damaging	Het
Sipa1l1	T	A	12: 82,422,471	L1248*	probably null	Het
Skint7	T	G	4: 111,982,112	M201R	probably damaging	Het
Slc5a3	T	A	16: 92,077,202	V49E	probably benign	Het
Slc9c1	A	T	16: 45,547,393	*163L	probably null	Het
Smyd3	A	G	1: 179,043,741	Y358H	probably benign	Het
Srp68	A	T	11: 116,274,014	S31R	probably benign	Het
Stag1	T	A	9: 100,796,716	M230K	probably damaging	Het
Strc	A	T	2: 121,374,348	D985E	possibly damaging	Het
Syne2	A	G	12: 75,989,239	T3767A	probably damaging	Het
Sytl2	C	A	7: 90,375,425	P207Q	probably damaging	Het
Tbc1d2b	A	G	9: 90,207,887	F863S	probably damaging	Het
Tek	T	C	4: 94,780,884	S41P	probably damaging	Het
Top1	T	C	2: 160,712,717	Y463H	probably damaging	Het
Trim24	T	G	6: 37,957,839		probably null	Het
Trim38	A	T	13: 23,782,969	D133V	probably damaging	Het
Ttn	A	G	2: 76,746,635	V24638A	possibly damaging	Het
Ttn	A	G	2: 76,870,869		probably benign	Het
Tyro3	G	C	2: 119,816,868	G826A	probably benign	Het
Ube2b	A	G	11: 51,995,372		probably null	Het
Ubxn4	T	A	1: 128,274,850	W410R	probably benign	Het
Unc45a	T	C	7: 80,333,029	K383E	possibly damaging	Het
Usp7	A	C	16: 8,698,414		probably benign	Het
Vmn1r193	C	T	13: 22,219,525	G99D	probably damaging	Het
Vrk2	T	C	11: 26,489,803	D256G	probably damaging	Het
Wdr81	A	G	11: 75,451,240	V1067A	probably damaging	Het
Wiz	C	T	17: 32,357,681	R624Q	probably damaging	Het
Zcwpw2	A	G	9: 118,014,051		noncoding transcript	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
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
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'- CTAGATCCAAGGGCCAAGAG -3'
(R):5'- AGAGGCCCAACTTCAATCAG -3'

Sequencing Primer
(F):5'- GGCCAAGAGCTCCTGTGTTTC -3'
(R):5'- AGCTAACTGAGGCCAGGCTC -3'

Posted On

2015-10-08