Mutagenetix > Incidental Mutation

Incidental Mutation 'R3106:Ezh1'

263072

Institutional Source

Beutler Lab

Gene Symbol

Ezh1

Ensembl Gene

ENSMUSG00000006920

Gene Name

enhancer of zeste 1 polycomb repressive complex 2 subunit

Synonyms

MMRRC Submission

040580-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3106 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101191115-101226463 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 101195642 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tryptophan at position 575 (C575W)

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: C572W

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

SMART Domains

Protein: ENSMUSP00000102905
Gene: ENSMUSG00000006920
AA Change: C572W

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: C575W

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

SMART Domains

Protein: ENSMUSP00000102906
Gene: ENSMUSG00000006920
AA Change: C575W

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

0.9679

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (53/53)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	T	7: 120,396,633	E1331V	possibly damaging	Het
Adam22	A	G	5: 8,117,583		probably null	Het
Adamts17	T	A	7: 67,125,072	S980T	probably damaging	Het
Adarb1	C	A	10: 77,321,757	K285N	probably damaging	Het
Atp5c1	A	G	2: 10,063,465	S160P	probably benign	Het
Baz2a	AGCGGCGGTACTTGCGGG	AG	10: 128,125,077		probably null	Het
Btf3	T	G	13: 98,310,988	E145D	probably benign	Het
Ccdc184	G	T	15: 98,168,601	A96S	probably damaging	Het
Ccdc191	T	C	16: 43,931,210	F301S	probably damaging	Het
Ceacam5	T	C	7: 17,747,323	Y332H	probably benign	Het
Clip2	T	C	5: 134,523,064	K68R	probably benign	Het
Cntln	C	T	4: 84,957,169	T280M	possibly damaging	Het
Col6a3	T	C	1: 90,816,302	R515G	probably damaging	Het
Ctnnal1	G	A	4: 56,813,246	L662F	probably benign	Het
Dennd3	C	A	15: 73,565,124	S118*	probably null	Het
Dgkg	T	A	16: 22,575,341	T321S	probably damaging	Het
Dzip1l	A	T	9: 99,642,572	K249*	probably null	Het
Dzip1l	A	G	9: 99,647,121	E301G	probably benign	Het
Emc10	G	A	7: 44,493,192	R109W	probably damaging	Het
Fam187b	A	G	7: 30,977,240	D58G	probably benign	Het
Galnt4	T	C	10: 99,109,381	Y323H	probably benign	Het
Gm13119	T	C	4: 144,361,676	V14A	probably benign	Het
Grm1	A	G	10: 11,079,857	S228P	probably benign	Het
Hist1h1c	G	T	13: 23,738,900	A18S	unknown	Het
Hnf4g	T	G	3: 3,652,856	S388R	probably benign	Het
Il1rap	A	G	16: 26,722,752	E581G	probably benign	Het
Lemd2	C	A	17: 27,201,670	L256F	probably damaging	Het
Mnd1	C	A	3: 84,134,109	C62F	probably benign	Het
Nphs1	C	A	7: 30,467,540	S724*	probably null	Het
Olfr1136	T	C	2: 87,693,505	I126V	probably damaging	Het
Olfr1284	A	G	2: 111,379,495	N165S	probably benign	Het
Osgep	T	C	14: 50,916,829	T225A	probably benign	Het
Pan3	T	C	5: 147,539,379		probably benign	Het
Pld3	A	G	7: 27,535,787		probably null	Het
Plekha7	C	T	7: 116,164,404	R321K	probably benign	Het
Plekhg5	C	T	4: 152,112,178	T694M	probably damaging	Het
Ptpn20	A	G	14: 33,612,296	I44V	probably benign	Het
Ptprj	T	A	2: 90,440,631	H1251L	probably damaging	Het
Sbspon	T	C	1: 15,892,582	E24G	probably benign	Het
Sfmbt1	G	A	14: 30,817,796	C847Y	probably damaging	Het
Sparcl1	T	C	5: 104,093,337	T74A	probably benign	Het
Sppl2b	A	G	10: 80,867,491	E529G	probably benign	Het
Stradb	C	A	1: 58,992,291	H212Q	possibly damaging	Het
Tkfc	G	T	19: 10,596,993	C198*	probably null	Het
Tm4sf4	C	T	3: 57,437,622	R150C	possibly damaging	Het
Tmem212	T	C	3: 27,884,870	S156G	probably damaging	Het
Tmem51	T	C	4: 142,037,724	N8D	probably damaging	Het
Tmigd1	A	G	11: 76,910,298	T204A	possibly damaging	Het
Trp53bp1	A	G	2: 121,236,652	L531S	probably damaging	Het
Tsga10	G	A	1: 37,801,791	L445F	probably damaging	Het
Urb1	C	T	16: 90,795,443	V310I	probably damaging	Het
Vmn2r-ps159	T	A	4: 156,333,435		noncoding transcript	Het
Wdr19	T	C	5: 65,202,623	S24P	probably benign	Het

Other mutations in Ezh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00419:Ezh1	APN	11	101194506	splice site	probably null
IGL00481:Ezh1	APN	11	101199302	missense	possibly damaging	0.68
IGL01327:Ezh1	APN	11	101203436	missense	probably damaging	0.97
IGL01475:Ezh1	APN	11	101192961	missense	probably damaging	1.00
IGL01693:Ezh1	APN	11	101215258	missense	probably benign
IGL01896:Ezh1	APN	11	101213755	missense	probably benign	0.00
IGL02022:Ezh1	APN	11	101199340	missense	probably damaging	1.00
IGL02024:Ezh1	APN	11	101199340	missense	probably damaging	1.00
IGL02028:Ezh1	APN	11	101199340	missense	probably damaging	1.00
IGL02053:Ezh1	APN	11	101199943	splice site	probably benign
IGL02101:Ezh1	APN	11	101195566	missense	possibly damaging	0.50
IGL02445:Ezh1	APN	11	101210687	missense	possibly damaging	0.49
IGL02882:Ezh1	APN	11	101203289	missense	probably benign	0.02
IGL03303:Ezh1	APN	11	101195671	splice site	probably null
IGL03493:Ezh1	APN	11	101203791	missense	probably benign	0.02
R1099:Ezh1	UTSW	11	101193808	critical splice acceptor site	probably null
R1119:Ezh1	UTSW	11	101210535	splice site	probably benign
R1434:Ezh1	UTSW	11	101194917	missense	probably damaging	1.00
R1477:Ezh1	UTSW	11	101192984	missense	probably damaging	0.98
R2114:Ezh1	UTSW	11	101208185	missense	probably benign	0.04
R3105:Ezh1	UTSW	11	101195642	missense	probably damaging	1.00
R4272:Ezh1	UTSW	11	101194908	missense	probably damaging	1.00
R4820:Ezh1	UTSW	11	101203768	missense	probably damaging	1.00
R5016:Ezh1	UTSW	11	101199237	intron	probably benign
R5237:Ezh1	UTSW	11	101216993	critical splice donor site	probably null
R6392:Ezh1	UTSW	11	101203804	missense	probably damaging	0.96
R6892:Ezh1	UTSW	11	101199361	nonsense	probably null
R7215:Ezh1	UTSW	11	101215299	missense	probably benign	0.01
R7488:Ezh1	UTSW	11	101200900	missense	possibly damaging	0.51
R7604:Ezh1	UTSW	11	101217029	missense	probably benign
R7819:Ezh1	UTSW	11	101194914	missense	probably damaging	0.98
R8696:Ezh1	UTSW	11	101209479	missense	probably benign
R9168:Ezh1	UTSW	11	101195607	missense	probably damaging	1.00
R9382:Ezh1	UTSW	11	101203439	missense	possibly damaging	0.64
R9531:Ezh1	UTSW	11	101213831	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGAACAATGACACCTGGTAAC -3'
(R):5'- TCCTTGTCTTGAGGGAAAAGC -3'

Sequencing Primer
(F):5'- GGTAACATTTCCTCCTTCCCACTG -3'
(R):5'- TCTTGAGGGAAAAGCCAGATGTTC -3'

Posted On

2015-02-05