Mutagenetix > Incidental Mutation

Incidental Mutation 'R0630:Ehmt2'

57884

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

038819-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0630 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35117445-35133028 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35118818 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 167 (T167A)

Ref Sequence

ENSEMBL: ENSMUSP00000109667 (fasta)

Gene Model

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

AlphaFold

Q9Z148

Predicted Effect

probably benign
Transcript: ENSMUST00000013931
AA Change: T224A

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

SMART Domains

Protein: ENSMUSP00000013931
Gene: ENSMUSG00000013787
AA Change: T224A

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: T167A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000077208
Gene: ENSMUSG00000013787
AA Change: T167A

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: T224A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000094955
Gene: ENSMUSG00000013787
AA Change: T224A

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: T167A

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000109667
Gene: ENSMUSG00000013787
AA Change: T167A

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

noncoding transcript
Transcript: ENSMUST00000174880

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174279

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

Meta Mutation Damage Score

0.0587

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.9%
20x: 96.2%

Validation Efficiency

97% (108/111)

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	C	T	1: 183,766,104 (GRCm39)		probably benign	Het
4930562C15Rik	T	A	16: 4,668,803 (GRCm39)	N731K	possibly damaging	Het
Adgra1	A	T	7: 139,432,500 (GRCm39)	K113*	probably null	Het
Adgrl2	T	C	3: 148,544,880 (GRCm39)	I659M	probably damaging	Het
Adm	G	T	7: 110,227,755 (GRCm39)	R41L	probably damaging	Het
Aimp2	T	C	5: 143,843,419 (GRCm39)	E97G	probably benign	Het
Aox1	T	C	1: 58,376,480 (GRCm39)		probably benign	Het
Arhgap20	G	A	9: 51,760,684 (GRCm39)	R809H	probably damaging	Het
Arsa	T	C	15: 89,358,207 (GRCm39)		probably benign	Het
Atg2a	G	T	19: 6,294,547 (GRCm39)	A88S	probably damaging	Het
Atm	G	A	9: 53,442,922 (GRCm39)		probably benign	Het
Atp1a2	A	T	1: 172,118,842 (GRCm39)	I100N	possibly damaging	Het
Camta2	G	C	11: 70,569,131 (GRCm39)	L605V	probably damaging	Het
Cand2	G	A	6: 115,780,766 (GRCm39)	E1217K	probably damaging	Het
Ccdc60	A	G	5: 116,274,440 (GRCm39)	V388A	possibly damaging	Het
Cdk14	C	T	5: 5,185,422 (GRCm39)		probably benign	Het
Cdyl2	C	T	8: 117,350,774 (GRCm39)	G119E	probably benign	Het
Celsr3	A	G	9: 108,704,891 (GRCm39)	N458S	probably damaging	Het
Chd3	A	C	11: 69,238,021 (GRCm39)	H1808Q	probably damaging	Het
Cntnap2	T	C	6: 46,965,694 (GRCm39)	V835A	probably damaging	Het
Col4a1	C	A	8: 11,249,889 (GRCm39)		probably benign	Het
Cpsf1	A	G	15: 76,486,171 (GRCm39)	V357A	probably damaging	Het
Cryzl1	A	G	16: 91,504,107 (GRCm39)		probably benign	Het
Cts8	T	C	13: 61,401,256 (GRCm39)	K90R	possibly damaging	Het
Cux1	A	G	5: 136,315,689 (GRCm39)	V1117A	probably damaging	Het
Dbx1	T	C	7: 49,282,444 (GRCm39)	T254A	probably damaging	Het
Dgki	C	A	6: 36,977,133 (GRCm39)	C659F	probably damaging	Het
Dnajc1	T	G	2: 18,236,612 (GRCm39)	D332A	probably damaging	Het
Dock8	C	A	19: 25,038,524 (GRCm39)	T70K	probably benign	Het
Dsc1	T	A	18: 20,218,919 (GRCm39)	T828S	probably damaging	Het
Dst	T	G	1: 34,232,531 (GRCm39)	V3510G	probably benign	Het
Dst	T	C	1: 34,238,554 (GRCm39)	V1738A	probably damaging	Het
Eri2	A	T	7: 119,385,640 (GRCm39)	V287E	probably benign	Het
Fat4	T	A	3: 39,054,321 (GRCm39)	L4121H	probably damaging	Het
Fbn1	T	A	2: 125,236,690 (GRCm39)	D330V	possibly damaging	Het
Fign	A	G	2: 63,810,485 (GRCm39)	Y262H	possibly damaging	Het
Fnd3c2	C	T	X: 105,282,763 (GRCm39)	M593I	probably benign	Het
Fndc7	T	A	3: 108,783,931 (GRCm39)	E226V	probably damaging	Het
Gad2	A	T	2: 22,580,348 (GRCm39)	Q583L	probably benign	Het
Gcn1	G	A	5: 115,719,148 (GRCm39)	A334T	probably benign	Het
Ggt1	A	G	10: 75,421,336 (GRCm39)		probably null	Het
Gli2	C	T	1: 118,769,648 (GRCm39)	G635R	possibly damaging	Het
Gm10253	T	C	3: 88,646,420 (GRCm39)	E93G	unknown	Het
Gm10428	A	G	11: 62,644,256 (GRCm39)		probably benign	Het
Gm7104	T	C	12: 88,252,479 (GRCm39)		noncoding transcript	Het
Gm8258	T	G	5: 104,924,385 (GRCm39)		noncoding transcript	Het
Gpr107	A	G	2: 31,104,309 (GRCm39)	N538S	possibly damaging	Het
Hars1	T	C	18: 36,904,442 (GRCm39)	E190G	probably damaging	Het
Hoxc10	C	T	15: 102,875,917 (GRCm39)	P209S	probably benign	Het
Ighg3	T	C	12: 113,323,714 (GRCm39)		probably benign	Het
Igsf10	C	A	3: 59,233,483 (GRCm39)	W1750L	probably damaging	Het
Igsf5	C	A	16: 96,174,023 (GRCm39)		probably benign	Het
Itga10	T	C	3: 96,563,615 (GRCm39)		probably benign	Het
Ldhd	T	C	8: 112,353,934 (GRCm39)	K422R	probably benign	Het
Masp1	T	C	16: 23,271,169 (GRCm39)	K693R	probably benign	Het
Mb21d2	G	A	16: 28,748,324 (GRCm39)	A31V	probably benign	Het
Mbd1	T	A	18: 74,409,798 (GRCm39)		probably benign	Het
Mdm4	G	A	1: 132,919,491 (GRCm39)	T459I	possibly damaging	Het
Megf10	A	T	18: 57,421,067 (GRCm39)	I902F	probably benign	Het
Mta3	A	G	17: 84,022,056 (GRCm39)	N37S	probably damaging	Het
Mterf3	T	A	13: 67,060,372 (GRCm39)	Y372F	probably damaging	Het
Nbeal2	A	G	9: 110,465,102 (GRCm39)		probably benign	Het
Nbr1	T	C	11: 101,457,913 (GRCm39)		probably benign	Het
Ndst3	A	G	3: 123,355,720 (GRCm39)	M103T	probably damaging	Het
Notch3	C	A	17: 32,366,446 (GRCm39)		probably benign	Het
Npr2	A	T	4: 43,641,219 (GRCm39)	E415V	probably benign	Het
Or2n1c	A	G	17: 38,519,304 (GRCm39)	H56R	probably damaging	Het
Or4k40	T	C	2: 111,251,191 (GRCm39)	Y35C	probably damaging	Het
Or52h9	G	C	7: 104,202,998 (GRCm39)	V291L	probably benign	Het
Or5be3	A	T	2: 86,863,653 (GRCm39)	M304K	probably benign	Het
Or8b50	T	A	9: 38,518,192 (GRCm39)	F144I	probably benign	Het
Pappa2	T	A	1: 158,660,343 (GRCm39)	D1246V	probably benign	Het
Pcdhgc5	A	T	18: 37,954,931 (GRCm39)	D735V	probably benign	Het
Pik3ca	A	G	3: 32,504,176 (GRCm39)	Y622C	possibly damaging	Het
Plppr2	A	G	9: 21,859,197 (GRCm39)	D438G	probably benign	Het
Ppfibp2	A	T	7: 107,337,806 (GRCm39)		probably null	Het
Prdm15	A	T	16: 97,638,907 (GRCm39)	L77Q	probably null	Het
Prdm8	T	C	5: 98,332,380 (GRCm39)	S94P	probably damaging	Het
Prkdc	A	T	16: 15,628,665 (GRCm39)	Q3470L	probably damaging	Het
Prl3c1	T	C	13: 27,384,674 (GRCm39)		probably benign	Het
Ptchd4	A	T	17: 42,688,076 (GRCm39)	H206L	probably benign	Het
Rack1	G	A	11: 48,694,804 (GRCm39)		probably benign	Het
Rere	T	C	4: 150,703,545 (GRCm39)	L1509P	probably damaging	Het
Rgma	T	A	7: 73,067,366 (GRCm39)	L301Q	probably damaging	Het
Rgs6	T	A	12: 83,094,324 (GRCm39)		probably benign	Het
Rictor	C	A	15: 6,823,973 (GRCm39)	R1613S	probably damaging	Het
Ripk1	T	G	13: 34,211,764 (GRCm39)	F358C	probably damaging	Het
Robo2	T	C	16: 73,713,093 (GRCm39)	D1217G	probably benign	Het
Shc2	A	T	10: 79,461,975 (GRCm39)	W357R	probably null	Het
Slc25a45	T	C	19: 5,930,556 (GRCm39)	L81P	probably damaging	Het
Slc9c1	A	T	16: 45,363,483 (GRCm39)		probably benign	Het
Spats2	T	C	15: 99,083,909 (GRCm39)		probably null	Het
Stac3	A	T	10: 127,343,632 (GRCm39)	E258V	probably damaging	Het
Thada	A	G	17: 84,536,603 (GRCm39)	S1648P	probably damaging	Het
Tmem168	T	C	6: 13,583,064 (GRCm39)	T222A	probably benign	Het
Tmtc4	T	C	14: 123,163,502 (GRCm39)		probably benign	Het
Trappc14	A	G	5: 138,260,551 (GRCm39)	S292P	probably damaging	Het
Trim38	T	G	13: 23,975,115 (GRCm39)	Y351*	probably null	Het
Trip12	T	C	1: 84,771,636 (GRCm39)	R213G	possibly damaging	Het
Vav3	C	T	3: 109,331,328 (GRCm39)	R76W	probably damaging	Het
Vmn1r63	G	T	7: 5,806,263 (GRCm39)	P123H	probably damaging	Het
Wdr5	A	G	2: 27,410,619 (GRCm39)	N130S	probably benign	Het
Wnk4	C	A	11: 101,156,212 (GRCm39)	R27S	probably damaging	Het
Ykt6	G	A	11: 5,909,323 (GRCm39)	S44N	probably benign	Het
Ythdc1	T	A	5: 86,957,207 (GRCm39)		probably benign	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
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
R8169:Ehmt2	UTSW	17	35,122,339 (GRCm39)	missense	probably benign
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'- ATGCCACAAAGTCGTTCCCCTC -3'
(R):5'- AGCCGACAATTACTCTGCTCACAG -3'

Sequencing Primer
(F):5'- CCTCTTCCCCCAGCAAGG -3'
(R):5'- AGGCTAAATCCCGGaagaagg -3'

Posted On

2013-07-11