Mutagenetix > Incidental Mutation

Incidental Mutation 'R5237:Ezh1'

398557

Institutional Source

Beutler Lab

Gene Symbol

Ezh1

Ensembl Gene

ENSMUSG00000006920

Gene Name

enhancer of zeste 1 polycomb repressive complex 2 subunit

Synonyms

MMRRC Submission

042808-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5237 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101081941-101117268 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 101107819 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000102906 (fasta)

Gene Model

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

AlphaFold

P70351

Predicted Effect

probably null
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 null
Transcript: ENSMUST00000107284

SMART Domains

Protein: ENSMUSP00000102905
Gene: ENSMUSG00000006920

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 null
Transcript: ENSMUST00000107285

SMART Domains

Protein: ENSMUSP00000102906
Gene: ENSMUSG00000006920

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: ENSMUST00000151291

Meta Mutation Damage Score

0.9495

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.5%

Validation Efficiency

100% (76/76)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	G	A	4: 144,349,850 (GRCm39)	W369*	probably null	Het
Adamts3	A	T	5: 89,923,236 (GRCm39)	M190K	probably benign	Het
Adamtsl1	T	C	4: 86,303,906 (GRCm39)		probably null	Het
Adcy1	A	T	11: 7,099,553 (GRCm39)	I678L	probably benign	Het
Agtrap	A	G	4: 148,166,817 (GRCm39)	S27P	probably benign	Het
Ankrd24	C	A	10: 81,478,379 (GRCm39)		probably benign	Het
Atg2a	G	T	19: 6,296,844 (GRCm39)	V383L	probably benign	Het
Ccdc40	T	C	11: 119,150,802 (GRCm39)	V1105A	probably benign	Het
Cenpf	A	T	1: 189,391,730 (GRCm39)	S684T	probably benign	Het
Cog7	A	G	7: 121,550,444 (GRCm39)	L360P	probably damaging	Het
Col12a1	T	A	9: 79,607,544 (GRCm39)	Q428L	probably benign	Het
Col4a1	G	A	8: 11,295,068 (GRCm39)		probably benign	Het
Cpeb2	G	A	5: 43,443,099 (GRCm39)	C930Y	probably damaging	Het
Cul9	T	C	17: 46,854,393 (GRCm39)	D103G	probably benign	Het
Cyb5a	T	G	18: 84,889,689 (GRCm39)	F39L	probably damaging	Het
Cyp2d12	T	A	15: 82,442,207 (GRCm39)		probably null	Het
Dnah7a	A	C	1: 53,486,690 (GRCm39)		probably null	Het
Efcab9	A	T	11: 32,472,832 (GRCm39)	I205K	probably benign	Het
Galnt6	C	A	15: 100,591,274 (GRCm39)	C610F	probably damaging	Het
Gata4	C	T	14: 63,478,075 (GRCm39)	A175T	probably benign	Het
Gcc1	A	T	6: 28,420,651 (GRCm39)	I222K	probably benign	Het
Gm5591	T	A	7: 38,221,631 (GRCm39)	H146L	probably benign	Het
H2-T23	C	T	17: 36,341,258 (GRCm39)		probably null	Het
Hmcn2	T	A	2: 31,304,728 (GRCm39)	I3124N	probably benign	Het
Hsf2	C	A	10: 57,382,317 (GRCm39)	D364E	probably benign	Het
Il15ra	A	G	2: 11,738,016 (GRCm39)	T250A	possibly damaging	Het
Large2	T	C	2: 92,197,487 (GRCm39)	E372G	probably benign	Het
Map2	A	G	1: 66,478,169 (GRCm39)		probably benign	Het
Med24	T	C	11: 98,601,609 (GRCm39)	Y524C	probably damaging	Het
Mfsd6l	C	A	11: 68,448,096 (GRCm39)	Q316K	probably benign	Het
Mroh6	T	C	15: 75,757,840 (GRCm39)	T417A	possibly damaging	Het
Mymk	T	C	2: 26,952,200 (GRCm39)	*181W	probably null	Het
Nup210l	A	G	3: 90,087,505 (GRCm39)	T1093A	probably benign	Het
Or10al4	T	A	17: 38,037,268 (GRCm39)	C118S	probably damaging	Het
Or10p1	A	G	10: 129,443,732 (GRCm39)	V206A	probably benign	Het
Or52w1	A	T	7: 105,018,513 (GRCm39)	K327*	probably null	Het
Or8b54	C	T	9: 38,687,252 (GRCm39)	R234W	probably damaging	Het
Papola	T	C	12: 105,793,219 (GRCm39)	V513A	probably benign	Het
Pex26	T	A	6: 121,162,806 (GRCm39)	L119Q	probably damaging	Het
Phldb2	T	C	16: 45,568,249 (GRCm39)	I1219V	probably damaging	Het
Plch2	A	G	4: 155,095,251 (GRCm39)	V64A	probably benign	Het
Plekho1	A	G	3: 95,902,937 (GRCm39)	V24A	probably damaging	Het
Pon2	A	C	6: 5,265,455 (GRCm39)	S311A	probably benign	Het
Pramel31	G	T	4: 144,089,041 (GRCm39)	E120*	probably null	Het
Rsrc2	T	C	5: 123,877,645 (GRCm39)		probably benign	Het
Selenov	T	C	7: 27,987,572 (GRCm39)	D295G	probably damaging	Het
Serpina10	T	A	12: 103,595,075 (GRCm39)	Y48F	probably benign	Het
Setbp1	T	A	18: 78,900,190 (GRCm39)	D1159V	possibly damaging	Het
Setx	C	T	2: 29,036,995 (GRCm39)	T1160I	probably benign	Het
Sin3b	A	C	8: 73,459,971 (GRCm39)		probably null	Het
Skint11	A	G	4: 114,102,042 (GRCm39)	K352E	possibly damaging	Het
Slitrk5	T	A	14: 111,919,118 (GRCm39)	V914E	possibly damaging	Het
Srgap1	A	G	10: 121,643,788 (GRCm39)	Y633H	probably damaging	Het
Stard9	A	G	2: 120,529,839 (GRCm39)	D2032G	probably damaging	Het
Sv2c	G	A	13: 96,118,391 (GRCm39)	T486I	possibly damaging	Het
Tesk1	T	C	4: 43,447,100 (GRCm39)	F496S	probably damaging	Het
Tfg	T	A	16: 56,533,071 (GRCm39)	E29D	possibly damaging	Het
Tnc	G	A	4: 63,880,333 (GRCm39)	T2038I	probably damaging	Het
Tor4a	T	G	2: 25,084,976 (GRCm39)	N309T	probably damaging	Het
Trim69	A	G	2: 122,003,821 (GRCm39)	T257A	probably benign	Het
Trpm6	C	T	19: 18,790,828 (GRCm39)	A621V	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Vmn1r6	A	C	6: 56,980,179 (GRCm39)	Q258H	probably damaging	Het
Vmn2r84	A	G	10: 130,221,863 (GRCm39)	C786R	probably damaging	Het
Xylt2	T	C	11: 94,557,953 (GRCm39)	D638G	probably benign	Het
Zfp934	A	G	13: 62,665,652 (GRCm39)	C330R	probably damaging	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
R1434:Ezh1	UTSW	11	101,085,743 (GRCm39)	missense	probably damaging	1.00
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
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'- ACAGTCCCTCTGATCAGCAC -3'
(R):5'- GGCAGTTTTCCTTTGTGACC -3'

Sequencing Primer
(F):5'- CAGCCTGGTCTACAAAGTGAGTTTC -3'
(R):5'- GTGACCTGCATTGACTCTTAACAGAC -3'

Posted On

2016-07-06