Mutagenetix > Incidental Mutation

Incidental Mutation 'R7365:Ezh2'

571706

Institutional Source

Beutler Lab

Gene Symbol

Ezh2

Ensembl Gene

ENSMUSG00000029687

Gene Name

enhancer of zeste 2 polycomb repressive complex 2 subunit

Synonyms

Enx1h, Enx-1, KMT6

MMRRC Submission

045449-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7365 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

47507073-47572275 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 47510692 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 639 (S639*)

Ref Sequence

ENSEMBL: ENSMUSP00000080419 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081721] [ENSMUST00000092648] [ENSMUST00000114616] [ENSMUST00000114618]

AlphaFold

Q61188

PDB Structure

Structural basis of EZH2 recognition by EED [X-RAY DIFFRACTION]

Predicted Effect

probably null
Transcript: ENSMUST00000081721
AA Change: S639*

SMART Domains

Protein: ENSMUSP00000080419
Gene: ENSMUSG00000029687
AA Change: S639*

Domain	Start	End	E-Value	Type
Pfam:EZH2_WD-Binding	39	68	6.1e-18	PFAM
SANT	159	250	9.7e-3	SMART
low complexity region	349	366	N/A	INTRINSIC
low complexity region	385	409	N/A	INTRINSIC
SANT	428	476	6.62e-1	SMART
CXC	555	592	1.05e-1	SMART
SET	612	733	4.15e-38	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000092648
AA Change: S597*

SMART Domains

Protein: ENSMUSP00000090318
Gene: ENSMUSG00000029687
AA Change: S597*

Domain	Start	End	E-Value	Type
Pfam:EZH2_WD-Binding	39	68	6.9e-20	PFAM
SANT	159	250	9.7e-3	SMART
Blast:SET	272	333	3e-13	BLAST
low complexity region	349	366	N/A	INTRINSIC
low complexity region	385	409	N/A	INTRINSIC
SANT	428	476	6.62e-1	SMART
CXC	513	550	1.05e-1	SMART
SET	570	691	4.15e-38	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000114616
AA Change: S600*

SMART Domains

Protein: ENSMUSP00000110263
Gene: ENSMUSG00000029687
AA Change: S600*

Domain	Start	End	E-Value	Type
Pfam:EZH2_WD-Binding	39	68	2.5e-20	PFAM
SANT	120	211	9.7e-3	SMART
low complexity region	310	327	N/A	INTRINSIC
low complexity region	346	370	N/A	INTRINSIC
SANT	389	437	6.62e-1	SMART
CXC	516	553	1.05e-1	SMART
SET	573	694	4.15e-38	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000114618
AA Change: S635*

SMART Domains

Protein: ENSMUSP00000110265
Gene: ENSMUSG00000029687
AA Change: S635*

Domain	Start	End	E-Value	Type
Pfam:EZH2_WD-Binding	39	68	7.4e-20	PFAM
SANT	150	241	9.7e-3	SMART
low complexity region	345	362	N/A	INTRINSIC
low complexity region	381	405	N/A	INTRINSIC
SANT	424	472	6.62e-1	SMART
CXC	551	588	1.05e-1	SMART
SET	608	729	4.15e-38	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000204243
AA Change: S46*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (96/96)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Polycomb-group (PcG) family. PcG family members form multimeric protein complexes, which are involved in maintaining the transcriptional repressive state of genes over successive cell generations. This protein associates with the embryonic ectoderm development protein, the VAV1 oncoprotein, and the X-linked nuclear protein. This protein may play a role in the hematopoietic and central nervous systems. Multiple alternatively splcied transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Homozygous null mutants die prior to completing gastrulation. A conditional mutant with loss of expression in immune cells survives, but has defects in early B cell development and Igh rearrangement. Conditional loss of maternal protein results in severegrowth retardation of neonates. Conditional loss in oligodendrocytes affects oligodendrocyte maturation and delays subsequent myelinization of axons in the central nervous system by oligodendrocytes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	T	C	5: 138,561,198 (GRCm39)	S155G	probably benign	Het
Abcc4	T	C	14: 118,865,066 (GRCm39)	N320S	probably damaging	Het
Akr1c19	G	A	13: 4,287,069 (GRCm39)	R96H	probably benign	Het
Ankrd17	T	C	5: 90,439,010 (GRCm39)	D451G	possibly damaging	Het
Ano8	T	A	8: 71,937,754 (GRCm39)	D36V	probably damaging	Het
Aqp3	A	G	4: 41,098,003 (GRCm39)	V36A	probably benign	Het
Atf7ip	A	G	6: 136,537,708 (GRCm39)	T314A	probably benign	Het
Atp2c1	A	T	9: 105,300,198 (GRCm39)	D700E	probably damaging	Het
Axin2	G	A	11: 108,830,202 (GRCm39)	V341M	possibly damaging	Het
Bin3	A	G	14: 70,371,976 (GRCm39)	Q139R	probably damaging	Het
Brca2	A	G	5: 150,455,802 (GRCm39)	D181G	probably damaging	Het
Capn3	A	G	2: 120,325,295 (GRCm39)	E466G	probably damaging	Het
Ccdc14	T	A	16: 34,543,989 (GRCm39)	Y830*	probably null	Het
Cdk12	T	C	11: 98,111,910 (GRCm39)	F723L	unknown	Het
Cep89	G	A	7: 35,129,353 (GRCm39)	R630H	probably damaging	Het
Cip2a	T	A	16: 48,822,016 (GRCm39)	S215T	probably benign	Het
Clca3a2	T	A	3: 144,804,545 (GRCm39)	I61F	probably damaging	Het
Clca4b	T	C	3: 144,628,529 (GRCm39)	T393A	not run	Het
Cldn5	G	A	16: 18,595,845 (GRCm39)	A34T	probably damaging	Het
Cobll1	A	T	2: 64,928,717 (GRCm39)	S870T	probably damaging	Het
Col12a1	T	C	9: 79,613,642 (GRCm39)	K68E	probably damaging	Het
Crnn	A	T	3: 93,055,841 (GRCm39)	Q209L	probably damaging	Het
Cwf19l1	A	T	19: 44,120,579 (GRCm39)	F45I	probably damaging	Het
Cyfip2	T	A	11: 46,098,267 (GRCm39)	K1052*	probably null	Het
D930020B18Rik	G	A	10: 121,503,716 (GRCm39)		probably null	Het
Dcc	G	A	18: 71,959,194 (GRCm39)	P193S	probably damaging	Het
Dda1	T	A	8: 71,927,137 (GRCm39)	C48S	probably benign	Het
Disc1	A	G	8: 125,881,780 (GRCm39)	R572G	probably damaging	Het
Dnah7a	A	T	1: 53,536,297 (GRCm39)	M2582K	probably benign	Het
Dsel	C	T	1: 111,789,303 (GRCm39)	G411S	probably damaging	Het
Dynlrb2	T	C	8: 117,241,696 (GRCm39)	V80A	probably benign	Het
Eif3a	A	T	19: 60,755,082 (GRCm39)	D1033E	unknown	Het
Enam	C	A	5: 88,649,347 (GRCm39)	H285Q	possibly damaging	Het
Ep400	T	C	5: 110,867,480 (GRCm39)	D980G	unknown	Het
Epha7	C	T	4: 28,871,937 (GRCm39)	S422L	probably benign	Het
Erc2	A	C	14: 27,762,346 (GRCm39)	D703A	probably damaging	Het
Fbn1	G	A	2: 125,193,969 (GRCm39)	H1333Y	probably damaging	Het
Flad1	A	G	3: 89,315,972 (GRCm39)	S197P	possibly damaging	Het
Foxl3	A	G	5: 138,806,736 (GRCm39)	H82R	probably damaging	Het
Gfm2	G	T	13: 97,279,529 (GRCm39)	C26F	probably benign	Het
Golga2	C	T	2: 32,193,013 (GRCm39)	Q444*	probably null	Het
Gp5	A	T	16: 30,127,426 (GRCm39)	V416D	probably damaging	Het
Gpat2	A	G	2: 127,268,901 (GRCm39)		probably null	Het
Gpr137c	A	G	14: 45,516,471 (GRCm39)	D353G	probably damaging	Het
Hoxa13	A	C	6: 52,236,862 (GRCm39)	W133G	probably damaging	Het
Hydin	A	T	8: 111,284,294 (GRCm39)	I3189F	probably damaging	Het
Hydin	A	T	8: 111,327,905 (GRCm39)	K4804M	probably damaging	Het
Ice2	T	C	9: 69,307,794 (GRCm39)	F26S	probably damaging	Het
Ints11	T	C	4: 155,956,687 (GRCm39)		probably null	Het
Ipo5	A	G	14: 121,157,497 (GRCm39)	I112V	probably benign	Het
Itgax	T	A	7: 127,734,481 (GRCm39)	S346R	probably damaging	Het
Kcnj13	T	A	1: 87,316,739 (GRCm39)	M125L	probably damaging	Het
Lmbrd1	T	A	1: 24,783,948 (GRCm39)	V359E	possibly damaging	Het
Lrrc7	T	G	3: 157,903,798 (GRCm39)	K287N	probably damaging	Het
Mau2	C	T	8: 70,481,884 (GRCm39)	A191T	possibly damaging	Het
Mkx	C	A	18: 7,000,747 (GRCm39)	R65L	possibly damaging	Het
Mroh4	T	A	15: 74,482,220 (GRCm39)	K746*	probably null	Het
Myh4	A	G	11: 67,133,674 (GRCm39)	T238A	probably damaging	Het
Nlrp9c	T	A	7: 26,070,822 (GRCm39)	N920Y	possibly damaging	Het
Nr4a3	T	G	4: 48,051,290 (GRCm39)	S15A	possibly damaging	Het
Ntn4	T	C	10: 93,480,666 (GRCm39)	L130P	probably damaging	Het
Or2ag13	A	G	7: 106,313,171 (GRCm39)	V239A	probably benign	Het
Or4a68	A	G	2: 89,270,542 (GRCm39)	V27A	probably benign	Het
Or4f59	A	T	2: 111,873,359 (GRCm39)	V6E	possibly damaging	Het
Or56a42-ps1	T	A	7: 104,777,552 (GRCm39)	I21F	probably benign	Het
Or8d23	A	T	9: 38,842,072 (GRCm39)	I202F	probably damaging	Het
Otog	T	C	7: 45,947,732 (GRCm39)	L110P	probably damaging	Het
Platr25	G	A	13: 62,848,719 (GRCm39)	H48Y	probably benign	Het
Plcxd2	T	C	16: 45,800,789 (GRCm39)	E145G	probably damaging	Het
Pltp	A	T	2: 164,696,242 (GRCm39)	N143K	probably damaging	Het
Pnpt1	T	C	11: 29,111,334 (GRCm39)	Y735H	probably damaging	Het
Prom1	A	G	5: 44,178,173 (GRCm39)	Y520H	probably damaging	Het
Rag2	A	G	2: 101,461,118 (GRCm39)	Y476C	probably damaging	Het
Rdh16f2	A	G	10: 127,712,893 (GRCm39)	Y297C	probably damaging	Het
Ryr1	T	C	7: 28,785,180 (GRCm39)	E1844G	probably benign	Het
Ryr2	A	G	13: 11,655,161 (GRCm39)	C3679R	probably damaging	Het
Sirt1	A	G	10: 63,157,782 (GRCm39)	I544T	probably benign	Het
Slc26a10	A	T	10: 127,012,716 (GRCm39)	I382N	possibly damaging	Het
Sox2	C	A	3: 34,705,121 (GRCm39)	P186Q	possibly damaging	Het
Spata31e5	A	T	1: 28,819,233 (GRCm39)	M16K	probably benign	Het
Tnpo3	A	G	6: 29,556,995 (GRCm39)	L752P	probably damaging	Het
Top2b	T	A	14: 16,416,649 (GRCm38)	N1136K	probably benign	Het
Tpsg1	G	T	17: 25,592,184 (GRCm39)	G86V	probably damaging	Het
Ttf2	C	A	3: 100,870,618 (GRCm39)	D152Y	possibly damaging	Het
Txndc15	T	C	13: 55,862,601 (GRCm39)	L4P	unknown	Het
Unc5a	T	C	13: 55,144,386 (GRCm39)	V237A	possibly damaging	Het
Urb1	CACTTAC	CAC	16: 90,569,461 (GRCm39)		probably benign	Het
Vav3	C	A	3: 109,535,415 (GRCm39)	P616T	possibly damaging	Het
Vmn2r15	T	A	5: 109,441,105 (GRCm39)	D251V	probably benign	Het
Vmn2r15	A	G	5: 109,445,388 (GRCm39)	L12S	probably benign	Het
Wfs1	A	C	5: 37,125,076 (GRCm39)	I605S	probably benign	Het
Wif1	G	A	10: 120,919,814 (GRCm39)	R187Q	possibly damaging	Het
Yipf1	A	G	4: 107,207,738 (GRCm39)		probably null	Het
Zdhhc20	G	T	14: 58,111,377 (GRCm39)	F74L	possibly damaging	Het
Zfp507	T	C	7: 35,475,843 (GRCm39)	T303A	unknown	Het
Zfp763	A	T	17: 33,252,352 (GRCm39)		probably benign	Het

Other mutations in Ezh2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01582:Ezh2	APN	6	47,532,989 (GRCm39)	nonsense	probably null
IGL01932:Ezh2	APN	6	47,508,982 (GRCm39)	missense	probably damaging	0.99
IGL02019:Ezh2	APN	6	47,528,835 (GRCm39)	splice site	probably null
IGL02748:Ezh2	APN	6	47,535,173 (GRCm39)	missense	probably damaging	1.00
IGL02749:Ezh2	APN	6	47,510,698 (GRCm39)	missense	probably damaging	0.99
IGL03171:Ezh2	APN	6	47,517,715 (GRCm39)	nonsense	probably null
Peezy	UTSW	6	47,510,692 (GRCm39)	nonsense	probably null
R0417:Ezh2	UTSW	6	47,528,660 (GRCm39)	missense	probably benign	0.00
R1256:Ezh2	UTSW	6	47,518,789 (GRCm39)	nonsense	probably null
R1587:Ezh2	UTSW	6	47,529,424 (GRCm39)	critical splice acceptor site	probably null
R1631:Ezh2	UTSW	6	47,554,592 (GRCm39)	start codon destroyed	probably null	0.01
R1736:Ezh2	UTSW	6	47,553,594 (GRCm39)	missense	probably damaging	1.00
R1775:Ezh2	UTSW	6	47,553,594 (GRCm39)	missense	probably damaging	1.00
R2076:Ezh2	UTSW	6	47,553,567 (GRCm39)	nonsense	probably null
R2311:Ezh2	UTSW	6	47,535,194 (GRCm39)	missense	probably damaging	1.00
R3751:Ezh2	UTSW	6	47,532,998 (GRCm39)	missense	possibly damaging	0.94
R4016:Ezh2	UTSW	6	47,521,516 (GRCm39)	missense	probably benign
R4119:Ezh2	UTSW	6	47,521,482 (GRCm39)	missense	probably benign	0.00
R4214:Ezh2	UTSW	6	47,510,748 (GRCm39)	missense	probably damaging	1.00
R4770:Ezh2	UTSW	6	47,517,630 (GRCm39)	missense	probably damaging	1.00
R5133:Ezh2	UTSW	6	47,517,684 (GRCm39)	missense	probably damaging	1.00
R5137:Ezh2	UTSW	6	47,509,014 (GRCm39)	splice site	probably null
R5199:Ezh2	UTSW	6	47,528,659 (GRCm39)	missense	probably benign	0.01
R5343:Ezh2	UTSW	6	47,553,549 (GRCm39)	missense	probably damaging	1.00
R5584:Ezh2	UTSW	6	47,508,950 (GRCm39)	missense	probably damaging	1.00
R5942:Ezh2	UTSW	6	47,554,516 (GRCm39)	missense	possibly damaging	0.94
R6057:Ezh2	UTSW	6	47,529,357 (GRCm39)	missense	probably damaging	1.00
R7247:Ezh2	UTSW	6	47,510,708 (GRCm39)	missense	probably damaging	1.00
R7284:Ezh2	UTSW	6	47,521,453 (GRCm39)	missense	probably benign	0.00
R7382:Ezh2	UTSW	6	47,528,770 (GRCm39)	missense	possibly damaging	0.55
R7718:Ezh2	UTSW	6	47,531,125 (GRCm39)	missense	probably benign
R7910:Ezh2	UTSW	6	47,533,077 (GRCm39)	missense	probably damaging	0.96
R8206:Ezh2	UTSW	6	47,509,834 (GRCm39)	critical splice donor site	probably null
R8428:Ezh2	UTSW	6	47,522,745 (GRCm39)	nonsense	probably null
R8746:Ezh2	UTSW	6	47,553,534 (GRCm39)	missense	probably damaging	0.99
R8836:Ezh2	UTSW	6	47,531,196 (GRCm39)	missense	probably benign
R8925:Ezh2	UTSW	6	47,510,713 (GRCm39)	missense	possibly damaging	0.89
R8927:Ezh2	UTSW	6	47,510,713 (GRCm39)	missense	possibly damaging	0.89
R9039:Ezh2	UTSW	6	47,528,671 (GRCm39)	missense	possibly damaging	0.80
R9171:Ezh2	UTSW	6	47,531,134 (GRCm39)	missense	probably benign
R9642:Ezh2	UTSW	6	47,521,453 (GRCm39)	missense	probably benign	0.00
R9716:Ezh2	UTSW	6	47,531,141 (GRCm39)	missense	possibly damaging	0.95
R9774:Ezh2	UTSW	6	47,519,315 (GRCm39)	missense	probably benign	0.00
X0021:Ezh2	UTSW	6	47,531,103 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CCTTGTTCTCCAGGTAATAAAAGCC -3'
(R):5'- GTTTTCCAGACACTCAGCAAC -3'

Sequencing Primer
(F):5'- TCTCCAGGTAATAAAAGCCAAACATG -3'
(R):5'- ATATCTGTCAGATACACTTGGGG -3'

Posted On

2019-09-13