Mutagenetix > Incidental Mutation

Incidental Mutation 'R5137:Ezh2'

396204

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

042723-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5137 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

47507073-47572275 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 47509014 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110265 (fasta)

Gene Model

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

AlphaFold

Q61188

Predicted Effect

probably null
Transcript: ENSMUST00000081721

SMART Domains

Protein: ENSMUSP00000080419
Gene: ENSMUSG00000029687

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

SMART Domains

Protein: ENSMUSP00000090318
Gene: ENSMUSG00000029687

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

SMART Domains

Protein: ENSMUSP00000110263
Gene: ENSMUSG00000029687

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

SMART Domains

Protein: ENSMUSP00000110265
Gene: ENSMUSG00000029687

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

noncoding transcript
Transcript: ENSMUST00000165492

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170311

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171614

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203857

Predicted Effect

probably benign
Transcript: ENSMUST00000204243

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	C	3: 36,123,920 (GRCm39)	V75A	probably benign	Het
Ace	G	C	11: 105,865,652 (GRCm39)	W628C	probably damaging	Het
Adh4	T	C	3: 138,127,996 (GRCm39)	S141P	probably benign	Het
Apob	T	C	12: 8,061,384 (GRCm39)	Y3256H	possibly damaging	Het
B3galnt1	G	T	3: 69,482,282 (GRCm39)	N326K	probably benign	Het
Bltp3a	T	G	17: 28,095,964 (GRCm39)		probably null	Het
Catsperb	T	C	12: 101,516,070 (GRCm39)	F569L	probably damaging	Het
Cecr2	A	G	6: 120,732,478 (GRCm39)	I225V	probably benign	Het
Cox5b	A	G	1: 36,731,510 (GRCm39)		probably null	Het
Crybg1	T	C	10: 43,834,332 (GRCm39)	D1953G	probably damaging	Het
Dnaaf5	C	T	5: 139,167,215 (GRCm39)	T707M	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Ebf1	G	A	11: 44,882,295 (GRCm39)	R409Q	probably damaging	Het
Eef2k	G	A	7: 120,484,645 (GRCm39)	A256T	probably damaging	Het
Eef2k	C	A	7: 120,484,646 (GRCm39)	A256D	probably damaging	Het
Evl	C	G	12: 108,647,781 (GRCm39)	T294S	probably benign	Het
Eya2	T	C	2: 165,573,548 (GRCm39)	Y288H	probably damaging	Het
Fam171a1	T	C	2: 3,226,426 (GRCm39)	Y395H	probably benign	Het
Gas2l3	C	A	10: 89,249,837 (GRCm39)	R427L	probably damaging	Het
Gli2	T	A	1: 118,783,233 (GRCm39)	I91F	probably damaging	Het
Gm4884	T	C	7: 40,692,318 (GRCm39)	S96P	probably damaging	Het
Gprc5d	T	A	6: 135,093,031 (GRCm39)	D292V	probably benign	Het
Herc1	A	G	9: 66,355,505 (GRCm39)	K2252R	probably benign	Het
Il1rl1	A	T	1: 40,489,285 (GRCm39)	M346L	probably benign	Het
Kcna5	A	T	6: 126,510,946 (GRCm39)	V394D	probably damaging	Het
Kcng4	A	T	8: 120,352,617 (GRCm39)	M431K	possibly damaging	Het
Kifbp	A	T	10: 62,414,020 (GRCm39)	V46E	probably damaging	Het
Large1	A	G	8: 73,774,937 (GRCm39)	F258L	possibly damaging	Het
Mapkbp1	T	A	2: 119,852,662 (GRCm39)	C1001S	probably damaging	Het
Micu1	A	G	10: 59,663,054 (GRCm39)	Q328R	probably benign	Het
Mmp11	G	A	10: 75,761,290 (GRCm39)	P437S	probably damaging	Het
Msh6	T	A	17: 88,287,716 (GRCm39)	F119I	possibly damaging	Het
Myo6	A	G	9: 80,149,531 (GRCm39)	E159G	probably damaging	Het
Negr1	T	A	3: 156,721,833 (GRCm39)	Y136N	probably damaging	Het
Nol9	T	A	4: 152,130,428 (GRCm39)	C321S	probably damaging	Het
Nos1	T	C	5: 118,043,378 (GRCm39)	F551S	probably benign	Het
Nup153	C	A	13: 46,837,629 (GRCm39)	G1198C	probably damaging	Het
Omd	T	C	13: 49,743,552 (GRCm39)	S201P	probably benign	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or1e35	T	C	11: 73,797,452 (GRCm39)	I289V	probably damaging	Het
Or4c120	C	A	2: 89,000,744 (GRCm39)	V271F	probably benign	Het
Or51l14	A	G	7: 103,100,919 (GRCm39)	Y125C	probably damaging	Het
Or51l14	C	A	7: 103,100,920 (GRCm39)	Y125*	probably null	Het
Oxct1	G	T	15: 4,064,832 (GRCm39)	A57S	probably benign	Het
Pcdhga7	T	G	18: 37,850,433 (GRCm39)	S813R	probably damaging	Het
Pcmtd2	A	T	2: 181,496,787 (GRCm39)	I255F	possibly damaging	Het
Pdk1	T	G	2: 71,713,913 (GRCm39)	M186R	possibly damaging	Het
Pelp1	T	C	11: 70,285,925 (GRCm39)	T648A	probably damaging	Het
Phldb2	A	T	16: 45,628,621 (GRCm39)	S570R	possibly damaging	Het
Pramel16	T	A	4: 143,675,690 (GRCm39)	T379S	probably benign	Het
Ptprj	T	C	2: 90,299,992 (GRCm39)	T270A	possibly damaging	Het
Reln	C	T	5: 22,160,179 (GRCm39)	G2130D	probably damaging	Het
Rims1	A	T	1: 22,358,844 (GRCm39)	Y663*	probably null	Het
Rit2	T	C	18: 31,286,817 (GRCm39)	T123A	probably benign	Het
Rmdn2	A	T	17: 79,975,418 (GRCm39)	E302D	probably benign	Het
Ryr1	T	C	7: 28,801,283 (GRCm39)	E827G	possibly damaging	Het
Siglec1	C	T	2: 130,923,264 (GRCm39)	G494R	probably damaging	Het
Slc16a14	T	A	1: 84,890,318 (GRCm39)	Y329F	probably damaging	Het
Slc35d1	A	T	4: 103,071,978 (GRCm39)	L8Q	possibly damaging	Het
Smpdl3a	C	T	10: 57,677,163 (GRCm39)	S57L	possibly damaging	Het
Snx9	T	C	17: 5,978,528 (GRCm39)	V566A	probably damaging	Het
Spaca1	A	T	4: 34,029,095 (GRCm39)	I126N	probably damaging	Het
Spred1	T	G	2: 116,994,052 (GRCm39)	I94S	probably damaging	Het
Tardbp	T	C	4: 148,706,494 (GRCm39)	D105G	possibly damaging	Het
Tet2	T	C	3: 133,182,326 (GRCm39)	S1213G	probably benign	Het
Trak1	A	T	9: 121,196,121 (GRCm39)		probably benign	Het
Trem3	G	A	17: 48,556,756 (GRCm39)	V76M	possibly damaging	Het
Ttc13	G	T	8: 125,421,674 (GRCm39)	Y250*	probably null	Het
Ttll5	T	G	12: 85,969,819 (GRCm39)	S714R	possibly damaging	Het
Ube2l6	T	G	2: 84,633,220 (GRCm39)		probably null	Het
Ubr3	T	C	2: 69,803,679 (GRCm39)	S1090P	probably damaging	Het
Vezt	T	C	10: 93,806,372 (GRCm39)	T680A	probably benign	Het
Virma	A	G	4: 11,546,297 (GRCm39)	K1762E	probably damaging	Het
Vps53	A	G	11: 76,057,074 (GRCm39)	S57P	probably damaging	Het
Vwa7	G	T	17: 35,236,822 (GRCm39)	D130Y	probably damaging	Het
Vwa8	T	G	14: 79,302,342 (GRCm39)	F1004V	probably damaging	Het
Zfp35	A	T	18: 24,137,194 (GRCm39)	K513*	probably null	Het
Zfp384	ACAGCAGCAGCAGCAGCAGCAGC	ACAGCAGCAGCAGCAGCAGC	6: 125,013,472 (GRCm39)		probably benign	Het
Zfp521	C	A	18: 13,978,505 (GRCm39)	C636F	probably damaging	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
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
R7365:Ezh2	UTSW	6	47,510,692 (GRCm39)	nonsense	probably null
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'- CTGAAGTTTGCTGTCACTTGGC -3'
(R):5'- TTAAGCCATGTTTTGCTCAGCAG -3'

Sequencing Primer
(F):5'- CTGTCACTTGGCTGGAAAAATG -3'
(R):5'- CTGAAAAATCATGGCGTTTAAGAGC -3'

Posted On

2016-06-21