Mutagenetix > Incidental Mutation

Incidental Mutation 'R1434:Ezh1'

159398

Institutional Source

Beutler Lab

Gene Symbol

Ezh1

Ensembl Gene

ENSMUSG00000006920

Gene Name

enhancer of zeste 1 polycomb repressive complex 2 subunit

Synonyms

MMRRC Submission

039489-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1434 (G1)

Quality Score

216

Status

Validated

Chromosome

Chromosomal Location

101081941-101117268 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101085743 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 638 (K638R)

Ref Sequence

ENSEMBL: ENSMUSP00000102906 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100417] [ENSMUST00000103109] [ENSMUST00000107284] [ENSMUST00000107285]

AlphaFold

P70351

Predicted Effect

probably benign
Transcript: ENSMUST00000100417

SMART Domains

Protein: ENSMUSP00000097984
Gene: ENSMUSG00000006920

Domain	Start	End	E-Value	Type
Pfam:EZH2_WD-Binding	39	68	1.8e-20	PFAM
SANT	135	263	3.86e1	SMART
low complexity region	369	381	N/A	INTRINSIC
SANT	430	478	3.03e-4	SMART
PDB:4MI0\|A	521	558	2e-12	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000103109

SMART Domains

Protein: ENSMUSP00000099398
Gene: ENSMUSG00000017167

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
FA58C	25	169	7.49e-36	SMART
LamG	196	333	2.86e-32	SMART
LamG	382	516	3.49e-27	SMART
EGF	544	578	2.28e0	SMART
Blast:FBG	580	777	1e-133	BLAST
LamG	806	940	1.95e-25	SMART
EGF_like	961	997	6.03e1	SMART
low complexity region	1032	1044	N/A	INTRINSIC
low complexity region	1047	1058	N/A	INTRINSIC
low complexity region	1063	1078	N/A	INTRINSIC
LamG	1081	1219	2.59e-30	SMART
4.1m	1305	1323	7.85e-7	SMART
low complexity region	1333	1370	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000107284
AA Change: K635R

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

SMART Domains

Protein: ENSMUSP00000102905
Gene: ENSMUSG00000006920
AA Change: K635R

Domain	Start	End	E-Value	Type
Pfam:EZH2_WD-Binding	39	68	4.5e-21	PFAM
SANT	135	263	3.86e1	SMART
low complexity region	369	381	N/A	INTRINSIC
SANT	430	478	3.03e-4	SMART
CXC	556	593	8.14e-2	SMART
SET	613	734	7.34e-39	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000107285
AA Change: K638R

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

SMART Domains

Protein: ENSMUSP00000102906
Gene: ENSMUSG00000006920
AA Change: K638R

Domain	Start	End	E-Value	Type
Pfam:EZH2_WD-Binding	42	71	5.1e-20	PFAM
SANT	138	266	3.86e1	SMART
low complexity region	372	384	N/A	INTRINSIC
SANT	433	481	3.03e-4	SMART
CXC	559	596	8.14e-2	SMART
SET	616	737	7.34e-39	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128974

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134622

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138835

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146884

Meta Mutation Damage Score

0.3436

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.4%

Validation Efficiency

99% (73/74)

MGI Phenotype

FUNCTION: This gene encodes a member of the Polycomb-group (PcG) family. The encoded protein is interchangeable with the related Enhancer of zeste 2 (Ezh2) protein as a core component of the polycomb repressive complex 2 (PRC2), which methylates histone H3 at lysine 27 and results in the transcriptional repression of affected target genes. This complex is involved in carrying out cell-fate decisions during embryonic stem cell differentiation. [provided by RefSeq, Sep 2014]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile, and healthy. Mice homozygous for a conditional allele activated in hematopoietic stem cells exhibit bone marrow failure with defective HSC maintenance and premature senescence. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	T	1: 71,348,959 (GRCm39)	H851N	probably benign	Het
Adamtsl4	T	C	3: 95,588,094 (GRCm39)	Y631C	probably damaging	Het
Ankhd1	A	G	18: 36,758,212 (GRCm39)	I969V	probably benign	Het
Apob	A	G	12: 8,059,715 (GRCm39)	I2699M	probably damaging	Het
Aqr	A	T	2: 113,980,890 (GRCm39)	L297Q	probably damaging	Het
Arb2a	A	T	13: 77,910,041 (GRCm39)	Y98F	probably damaging	Het
Camsap1	A	G	2: 25,835,190 (GRCm39)	Y301H	probably damaging	Het
Ccdc88c	A	G	12: 100,905,425 (GRCm39)		probably benign	Het
Cd209b	T	A	8: 3,973,367 (GRCm39)	I106F	possibly damaging	Het
Cdkn1b	T	A	6: 134,898,060 (GRCm39)	W60R	probably damaging	Het
Coasy	A	G	11: 100,975,822 (GRCm39)		probably benign	Het
Col2a1	T	A	15: 97,877,532 (GRCm39)	Q1017L	probably damaging	Het
Cspg4b	G	A	13: 113,505,026 (GRCm39)	V510I	possibly damaging	Het
Ctnnal1	T	A	4: 56,847,971 (GRCm39)	N56I	probably damaging	Het
Cyb561d2	T	A	9: 107,418,842 (GRCm39)		probably benign	Het
Dcst1	G	T	3: 89,259,826 (GRCm39)	T632N	probably damaging	Het
Ddx1	C	T	12: 13,287,232 (GRCm39)	V267I	probably benign	Het
Dnah10	A	T	5: 124,852,050 (GRCm39)	M1736L	probably benign	Het
Eln	G	A	5: 134,758,291 (GRCm39)		probably benign	Het
Elp1	T	A	4: 56,781,193 (GRCm39)	E493D	probably benign	Het
Enpp2	A	T	15: 54,726,077 (GRCm39)	D566E	probably damaging	Het
Fdx2	C	A	9: 20,984,694 (GRCm39)	G37W	probably benign	Het
Grin2b	T	C	6: 135,820,193 (GRCm39)	I340V	probably benign	Het
Il16	T	C	7: 83,304,520 (GRCm39)	T671A	probably benign	Het
Kcnd2	T	A	6: 21,216,356 (GRCm39)	M20K	probably damaging	Het
Kndc1	C	T	7: 139,502,600 (GRCm39)	S962F	probably damaging	Het
L1td1	A	G	4: 98,626,054 (GRCm39)	S750G	possibly damaging	Het
Lama2	A	G	10: 27,084,366 (GRCm39)	C935R	probably damaging	Het
Lgalsl	T	C	11: 20,776,418 (GRCm39)	D158G	possibly damaging	Het
Lman1	A	T	18: 66,126,144 (GRCm39)		probably null	Het
Lmtk2	A	G	5: 144,111,407 (GRCm39)	E709G	probably damaging	Het
Lrfn3	T	C	7: 30,055,352 (GRCm39)	H531R	possibly damaging	Het
Mark3	A	G	12: 111,589,759 (GRCm39)		probably benign	Het
Mov10	T	C	3: 104,702,490 (GRCm39)	E997G	probably damaging	Het
Myo15a	T	A	11: 60,395,157 (GRCm39)	W2484R	probably benign	Het
Myo1g	G	T	11: 6,459,372 (GRCm39)	Q833K	probably benign	Het
Ncoa3	T	A	2: 165,897,430 (GRCm39)	D740E	probably benign	Het
Nol12	A	G	15: 78,822,153 (GRCm39)		probably benign	Het
Nrxn2	T	A	19: 6,493,642 (GRCm39)		probably null	Het
Nsfl1c	A	C	2: 151,342,666 (GRCm39)	I79L	probably benign	Het
Or52b2	T	C	7: 104,986,468 (GRCm39)	I152V	probably benign	Het
Or5b108	A	G	19: 13,168,662 (GRCm39)	I210M	probably benign	Het
Or5k1	G	T	16: 58,617,811 (GRCm39)	H133N	probably benign	Het
Osbpl8	A	C	10: 111,127,442 (GRCm39)	E842A	probably benign	Het
Pdxk	G	T	10: 78,276,645 (GRCm39)	T310K	probably benign	Het
Phip	T	G	9: 82,841,658 (GRCm39)	K54Q	probably damaging	Het
Pklr	A	T	3: 89,050,342 (GRCm39)	D366V	probably damaging	Het
Plxna2	T	A	1: 194,433,848 (GRCm39)		probably benign	Het
Ppp4r3a	A	T	12: 101,009,783 (GRCm39)	V618E	probably damaging	Het
Prdm12	A	T	2: 31,530,319 (GRCm39)	Q70L	possibly damaging	Het
Ptgr3	A	G	18: 84,112,596 (GRCm39)	K91E	probably benign	Het
Ptpn21	A	T	12: 98,654,849 (GRCm39)	M706K	probably damaging	Het
Ptprq	A	T	10: 107,422,575 (GRCm39)	F1606I	probably damaging	Het
Rasgrp4	T	C	7: 28,837,152 (GRCm39)		probably null	Het
Rlbp1	C	A	7: 79,029,661 (GRCm39)		probably null	Het
Rtp2	T	C	16: 23,746,193 (GRCm39)	D166G	probably benign	Het
Ryr3	A	C	2: 112,475,604 (GRCm39)	F4481V	probably damaging	Het
Scn2a	A	G	2: 65,532,335 (GRCm39)	D649G	possibly damaging	Het
Slc30a5	T	A	13: 100,939,950 (GRCm39)	D655V	probably damaging	Het
Slco5a1	G	A	1: 12,942,132 (GRCm39)	A838V	probably benign	Het
Spata6l	G	T	19: 28,905,039 (GRCm39)		probably benign	Het
Srprb	A	G	9: 103,067,501 (GRCm39)	V239A	probably damaging	Het
Tceanc2	T	C	4: 107,004,837 (GRCm39)	T104A	probably benign	Het
Tcp1	T	C	17: 13,141,493 (GRCm39)		probably null	Het
Unc13b	C	T	4: 43,239,385 (GRCm39)	R1056*	probably null	Het
Wdr19	G	A	5: 65,380,847 (GRCm39)		probably benign	Het
Zfhx4	T	A	3: 5,306,919 (GRCm39)	H48Q	probably benign	Het
Zfp787	T	A	7: 6,135,234 (GRCm39)	H339L	probably damaging	Het
Zfp839	G	T	12: 110,827,333 (GRCm39)	R408L	probably benign	Het

Other mutations in Ezh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00419:Ezh1	APN	11	101,085,332 (GRCm39)	splice site	probably null
IGL00481:Ezh1	APN	11	101,090,128 (GRCm39)	missense	possibly damaging	0.68
IGL01327:Ezh1	APN	11	101,094,262 (GRCm39)	missense	probably damaging	0.97
IGL01475:Ezh1	APN	11	101,083,787 (GRCm39)	missense	probably damaging	1.00
IGL01693:Ezh1	APN	11	101,106,084 (GRCm39)	missense	probably benign
IGL01896:Ezh1	APN	11	101,104,581 (GRCm39)	missense	probably benign	0.00
IGL02022:Ezh1	APN	11	101,090,166 (GRCm39)	missense	probably damaging	1.00
IGL02024:Ezh1	APN	11	101,090,166 (GRCm39)	missense	probably damaging	1.00
IGL02028:Ezh1	APN	11	101,090,166 (GRCm39)	missense	probably damaging	1.00
IGL02053:Ezh1	APN	11	101,090,769 (GRCm39)	splice site	probably benign
IGL02101:Ezh1	APN	11	101,086,392 (GRCm39)	missense	possibly damaging	0.50
IGL02445:Ezh1	APN	11	101,101,513 (GRCm39)	missense	possibly damaging	0.49
IGL02882:Ezh1	APN	11	101,094,115 (GRCm39)	missense	probably benign	0.02
IGL03303:Ezh1	APN	11	101,086,497 (GRCm39)	splice site	probably null
IGL03493:Ezh1	APN	11	101,094,617 (GRCm39)	missense	probably benign	0.02
R1099:Ezh1	UTSW	11	101,084,634 (GRCm39)	critical splice acceptor site	probably null
R1119:Ezh1	UTSW	11	101,101,361 (GRCm39)	splice site	probably benign
R1477:Ezh1	UTSW	11	101,083,810 (GRCm39)	missense	probably damaging	0.98
R2114:Ezh1	UTSW	11	101,099,011 (GRCm39)	missense	probably benign	0.04
R3105:Ezh1	UTSW	11	101,086,468 (GRCm39)	missense	probably damaging	1.00
R3106:Ezh1	UTSW	11	101,086,468 (GRCm39)	missense	probably damaging	1.00
R4272:Ezh1	UTSW	11	101,085,734 (GRCm39)	missense	probably damaging	1.00
R4820:Ezh1	UTSW	11	101,094,594 (GRCm39)	missense	probably damaging	1.00
R5016:Ezh1	UTSW	11	101,090,063 (GRCm39)	intron	probably benign
R5237:Ezh1	UTSW	11	101,107,819 (GRCm39)	critical splice donor site	probably null
R6392:Ezh1	UTSW	11	101,094,630 (GRCm39)	missense	probably damaging	0.96
R6892:Ezh1	UTSW	11	101,090,187 (GRCm39)	nonsense	probably null
R7215:Ezh1	UTSW	11	101,106,125 (GRCm39)	missense	probably benign	0.01
R7488:Ezh1	UTSW	11	101,091,726 (GRCm39)	missense	possibly damaging	0.51
R7604:Ezh1	UTSW	11	101,107,855 (GRCm39)	missense	probably benign
R7819:Ezh1	UTSW	11	101,085,740 (GRCm39)	missense	probably damaging	0.98
R8696:Ezh1	UTSW	11	101,100,305 (GRCm39)	missense	probably benign
R9168:Ezh1	UTSW	11	101,086,433 (GRCm39)	missense	probably damaging	1.00
R9382:Ezh1	UTSW	11	101,094,265 (GRCm39)	missense	possibly damaging	0.64
R9531:Ezh1	UTSW	11	101,104,657 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCTGAGAGGCCACATGAAAACTG -3'
(R):5'- ATGATGTATGCCCAGACTCAGCCC -3'

Sequencing Primer
(F):5'- CCACATGAAAACTGGGCTG -3'
(R):5'- CCCCTCAAGAGTGAAATGGTTTG -3'

Posted On

2014-03-14