Mutagenetix > Incidental Mutation

Incidental Mutation 'R8169:Ehmt2'

633999

Institutional Source

Beutler Lab

Gene Symbol

Ehmt2

Ensembl Gene

ENSMUSG00000013787

Gene Name

euchromatic histone lysine N-methyltransferase 2

Synonyms

KMT1C, D17Ertd710e, NG36, G9a, Bat8

MMRRC Submission

067595-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8169 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35117445-35133028 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35122339 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 302 (I302N)

Ref Sequence

ENSEMBL: ENSMUSP00000013931 (fasta)

Gene Model

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

AlphaFold

Q9Z148

Predicted Effect

probably benign
Transcript: ENSMUST00000013931
AA Change: I302N

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

SMART Domains

Protein: ENSMUSP00000013931
Gene: ENSMUSG00000013787
AA Change: I302N

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: I245N

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

SMART Domains

Protein: ENSMUSP00000077208
Gene: ENSMUSG00000013787
AA Change: I245N

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: I302N

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

SMART Domains

Protein: ENSMUSP00000094955
Gene: ENSMUSG00000013787
AA Change: I302N

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: I245N

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

SMART Domains

Protein: ENSMUSP00000109667
Gene: ENSMUSG00000013787
AA Change: I245N

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

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

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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (80/81)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082I17Rik	C	A	5: 139,349,812 (GRCm39)	G79V	probably damaging	Het
4930562C15Rik	T	A	16: 4,684,082 (GRCm39)	Y226N	probably benign	Het
Arhgap45	G	A	10: 79,863,706 (GRCm39)	A819T	probably damaging	Het
Bach1	G	A	16: 87,519,390 (GRCm39)	C560Y	possibly damaging	Het
Capn13	T	A	17: 73,633,467 (GRCm39)		probably null	Het
Casq2	G	T	3: 102,017,628 (GRCm39)	A103S	possibly damaging	Het
Cfap100	A	G	6: 90,394,656 (GRCm39)	F57S		Het
Clca3a2	A	T	3: 144,783,653 (GRCm39)	L654Q	probably damaging	Het
Cntnap5c	T	A	17: 58,411,765 (GRCm39)		probably null	Het
Cplane2	A	G	4: 140,945,530 (GRCm39)	H127R	probably damaging	Het
Crtc2	G	C	3: 90,170,883 (GRCm39)	G652A	probably damaging	Het
Csnk1g2	A	G	10: 80,475,636 (GRCm39)	D401G	probably damaging	Het
Dars1	T	C	1: 128,304,002 (GRCm39)	N242D	probably null	Het
Dnah10	T	C	5: 124,877,946 (GRCm39)	L2677P	probably damaging	Het
Dnal1	G	A	12: 84,171,330 (GRCm39)	A3T	probably benign	Het
Dpep2	C	T	8: 106,722,849 (GRCm39)	V60I		Het
Eeig1	T	C	2: 32,453,760 (GRCm39)	I203T	probably benign	Het
Eif3a	C	T	19: 60,750,628 (GRCm39)	R1309Q	unknown	Het
Eno4	T	A	19: 58,935,084 (GRCm39)	Y100N	probably benign	Het
Ephx2	A	T	14: 66,349,602 (GRCm39)		probably null	Het
Fbxw14	A	T	9: 109,106,284 (GRCm39)	I251K	probably benign	Het
Fcgbp	T	C	7: 27,784,919 (GRCm39)		probably null	Het
Foxm1	A	C	6: 128,348,671 (GRCm39)		probably null	Het
Fscn3	T	A	6: 28,430,328 (GRCm39)	I166N	possibly damaging	Het
Gdpd4	G	T	7: 97,621,335 (GRCm39)	V193L	probably benign	Het
Gnpat	T	G	8: 125,606,869 (GRCm39)	C352G	probably benign	Het
H2-Q7	T	A	17: 35,658,910 (GRCm39)	Y120*	probably null	Het
Klri1	G	A	6: 129,694,070 (GRCm39)	R6C	probably benign	Het
Kmo	T	C	1: 175,476,729 (GRCm39)	V154A	probably benign	Het
Kmt2c	A	G	5: 25,559,685 (GRCm39)	L1031P	probably damaging	Het
Lrrc14b	T	G	13: 74,511,286 (GRCm39)	T265P	possibly damaging	Het
Lrrc2	C	T	9: 110,809,954 (GRCm39)	T330I	probably benign	Het
Lyn	T	A	4: 3,783,050 (GRCm39)	S428T	probably damaging	Het
Lypd10	T	A	7: 24,412,000 (GRCm39)	M60K	probably benign	Het
Mfsd8	T	A	3: 40,791,550 (GRCm39)	M59L	probably benign	Het
Mok	T	A	12: 110,774,799 (GRCm39)	Q341L	probably benign	Het
Muc21	T	C	17: 35,932,072 (GRCm39)	T705A	unknown	Het
Myh3	C	A	11: 66,979,856 (GRCm39)	N598K	probably benign	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nlrp4e	A	G	7: 23,019,931 (GRCm39)	I139M	probably benign	Het
Or11g25	T	C	14: 50,723,692 (GRCm39)	V259A	probably benign	Het
Or3a10	T	A	11: 73,935,707 (GRCm39)	Q131L	possibly damaging	Het
Or4b13	G	A	2: 90,082,442 (GRCm39)	R297*	probably null	Het
Or51g2	A	G	7: 102,622,545 (GRCm39)	L218P	probably damaging	Het
Or52n2b	A	T	7: 104,565,619 (GRCm39)	Y295N	possibly damaging	Het
Osbpl7	G	A	11: 96,945,676 (GRCm39)	S312N	probably damaging	Het
Paxip1	A	G	5: 27,977,093 (GRCm39)	L323P	unknown	Het
Pcdh18	T	A	3: 49,699,684 (GRCm39)	H926L	probably damaging	Het
Pcm1	T	G	8: 41,763,153 (GRCm39)	S1460R	possibly damaging	Het
Pdha2	A	G	3: 140,917,155 (GRCm39)	S118P	possibly damaging	Het
Pdss1	A	T	2: 22,791,824 (GRCm39)	Y86F	probably benign	Het
Ppargc1a	A	T	5: 51,631,026 (GRCm39)	D534E	probably benign	Het
Prune2	A	G	19: 17,102,455 (GRCm39)	K2538R	probably benign	Het
Ptprq	A	T	10: 107,418,351 (GRCm39)	I1675N	probably damaging	Het
Rgma	C	T	7: 73,025,630 (GRCm39)	P3L	probably benign	Het
Ros1	A	G	10: 51,940,768 (GRCm39)		probably null	Het
Sema4g	C	T	19: 44,987,410 (GRCm39)	R519W	probably damaging	Het
Serpinc1	T	A	1: 160,820,971 (GRCm39)	F139L	probably damaging	Het
Slc22a29	A	G	19: 8,184,696 (GRCm39)	I198T	probably damaging	Het
Slc4a5	T	C	6: 83,280,373 (GRCm39)	V1007A	probably benign	Het
Sptbn1	T	C	11: 30,147,783 (GRCm39)	Y17C	possibly damaging	Het
Tex261	C	A	6: 83,751,999 (GRCm39)		probably null	Het
Timmdc1	T	A	16: 38,331,148 (GRCm39)	T128S	probably benign	Het
Tmem120b	C	A	5: 123,237,999 (GRCm39)	Y96*	probably null	Het
Tmem196	T	A	12: 119,982,311 (GRCm39)	F182I	possibly damaging	Het
Tnxb	G	A	17: 34,918,181 (GRCm39)	V2365M	possibly damaging	Het
Tph1	T	C	7: 46,303,233 (GRCm39)		silent	Het
Trmt9b	A	T	8: 36,978,857 (GRCm39)	K153N	probably damaging	Het
Trpc1	G	A	9: 95,592,323 (GRCm39)	Q551*	probably null	Het
Tubgcp3	T	C	8: 12,666,099 (GRCm39)	N828D	probably benign	Het
Unc13a	C	A	8: 72,108,933 (GRCm39)	G478W	probably damaging	Het
Usp15	T	A	10: 122,961,798 (GRCm39)	T627S		Het
Vmn1r115	A	T	7: 20,578,144 (GRCm39)	I256N	probably damaging	Het
Vmn2r6	T	A	3: 64,447,310 (GRCm39)	K585N	probably benign	Het
Vsir	G	T	10: 60,194,047 (GRCm39)		probably null	Het
Xirp2	A	G	2: 67,343,543 (GRCm39)	D1928G	probably benign	Het
Xylt1	A	G	7: 117,249,846 (GRCm39)	Y672C	probably damaging	Het
Yrdc	A	G	4: 124,744,880 (GRCm39)	S105G	probably benign	Het
Zfc3h1	T	A	10: 115,254,616 (GRCm39)	N1403K	probably damaging	Het
Zfp160	A	T	17: 21,247,298 (GRCm39)	H616L	probably damaging	Het
Zfp637	T	A	6: 117,822,252 (GRCm39)	F127I	probably damaging	Het
Zfp69	G	T	4: 120,787,731 (GRCm39)	A528D	probably damaging	Het
Zpr1	T	A	9: 46,189,645 (GRCm39)	L342Q	possibly damaging	Het

Other mutations in Ehmt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00973:Ehmt2	APN	17	35,129,791 (GRCm39)	missense	probably damaging	1.00
IGL02398:Ehmt2	APN	17	35,127,455 (GRCm39)	missense	probably damaging	1.00
IGL02878:Ehmt2	APN	17	35,129,743 (GRCm39)	missense	probably damaging	1.00
IGL02928:Ehmt2	APN	17	35,129,798 (GRCm39)	missense	probably damaging	1.00
IGL03117:Ehmt2	APN	17	35,125,787 (GRCm39)	missense	possibly damaging	0.54
R0630:Ehmt2	UTSW	17	35,118,818 (GRCm39)	missense	probably benign	0.02
R0778:Ehmt2	UTSW	17	35,124,394 (GRCm39)	missense	probably damaging	0.99
R0909:Ehmt2	UTSW	17	35,125,480 (GRCm39)	missense	possibly damaging	0.95
R1402:Ehmt2	UTSW	17	35,125,757 (GRCm39)	missense	probably benign	0.21
R1402:Ehmt2	UTSW	17	35,125,757 (GRCm39)	missense	probably benign	0.21
R1405:Ehmt2	UTSW	17	35,125,553 (GRCm39)	missense	probably benign
R1405:Ehmt2	UTSW	17	35,125,553 (GRCm39)	missense	probably benign
R1693:Ehmt2	UTSW	17	35,125,386 (GRCm39)	missense	possibly damaging	0.88
R1855:Ehmt2	UTSW	17	35,129,752 (GRCm39)	missense	probably damaging	1.00
R2212:Ehmt2	UTSW	17	35,118,341 (GRCm39)	missense	probably benign
R2275:Ehmt2	UTSW	17	35,129,691 (GRCm39)	missense	possibly damaging	0.95
R3761:Ehmt2	UTSW	17	35,132,707 (GRCm39)	missense	probably damaging	0.97
R3827:Ehmt2	UTSW	17	35,125,741 (GRCm39)	missense	possibly damaging	0.95
R3915:Ehmt2	UTSW	17	35,122,443 (GRCm39)	missense	probably damaging	0.99
R4303:Ehmt2	UTSW	17	35,127,724 (GRCm39)	missense	possibly damaging	0.92
R4529:Ehmt2	UTSW	17	35,132,707 (GRCm39)	missense	probably damaging	0.97
R4651:Ehmt2	UTSW	17	35,132,790 (GRCm39)	missense	probably damaging	1.00
R4825:Ehmt2	UTSW	17	35,125,940 (GRCm39)	missense	probably benign
R5061:Ehmt2	UTSW	17	35,118,067 (GRCm39)	nonsense	probably null
R5158:Ehmt2	UTSW	17	35,130,640 (GRCm39)	missense	probably damaging	1.00
R5298:Ehmt2	UTSW	17	35,118,067 (GRCm39)	nonsense	probably null
R5299:Ehmt2	UTSW	17	35,118,067 (GRCm39)	nonsense	probably null
R5523:Ehmt2	UTSW	17	35,118,067 (GRCm39)	nonsense	probably null
R5524:Ehmt2	UTSW	17	35,118,067 (GRCm39)	nonsense	probably null
R5727:Ehmt2	UTSW	17	35,125,008 (GRCm39)	missense	possibly damaging	0.75
R5755:Ehmt2	UTSW	17	35,127,214 (GRCm39)	missense	probably benign	0.05
R5786:Ehmt2	UTSW	17	35,129,719 (GRCm39)	missense	probably damaging	1.00
R5951:Ehmt2	UTSW	17	35,118,357 (GRCm39)	missense	probably benign
R6036:Ehmt2	UTSW	17	35,118,067 (GRCm39)	nonsense	probably null
R6162:Ehmt2	UTSW	17	35,118,067 (GRCm39)	nonsense	probably null
R6708:Ehmt2	UTSW	17	35,118,875 (GRCm39)	nonsense	probably null
R6889:Ehmt2	UTSW	17	35,131,748 (GRCm39)	missense	probably damaging	1.00
R6943:Ehmt2	UTSW	17	35,130,406 (GRCm39)	missense	probably damaging	1.00
R7470:Ehmt2	UTSW	17	35,118,372 (GRCm39)	missense	possibly damaging	0.67
R8061:Ehmt2	UTSW	17	35,124,903 (GRCm39)	missense	possibly damaging	0.66
R8095:Ehmt2	UTSW	17	35,126,745 (GRCm39)	missense	probably damaging	1.00
R8175:Ehmt2	UTSW	17	35,130,396 (GRCm39)	missense	probably damaging	1.00
R8244:Ehmt2	UTSW	17	35,124,238 (GRCm39)	missense	probably damaging	1.00
R8350:Ehmt2	UTSW	17	35,127,667 (GRCm39)	missense	probably damaging	1.00
R8357:Ehmt2	UTSW	17	35,124,137 (GRCm39)	small deletion	probably benign
R8809:Ehmt2	UTSW	17	35,127,489 (GRCm39)	missense	probably damaging	1.00
R8947:Ehmt2	UTSW	17	35,127,280 (GRCm39)	missense	possibly damaging	0.72
R9034:Ehmt2	UTSW	17	35,122,417 (GRCm39)	missense	probably benign	0.00
R9594:Ehmt2	UTSW	17	35,118,740 (GRCm39)	missense	possibly damaging	0.77

Predicted Primers

PCR Primer
(F):5'- GCCTGCGTAGTCTATCCCAG -3'
(R):5'- TTGCAGACAACACAGGGCG -3'

Sequencing Primer
(F):5'- GTCTATCCCAGGATTGAGAGTTCAC -3'
(R):5'- GCGGTGAACTAGAGCTATTAAAG -3'

Posted On

2020-07-13