Mutagenetix > Incidental Mutation

Incidental Mutation 'R4119:Ezh2'

315223

Institutional Source

Beutler Lab

Gene Symbol

Ezh2

Ensembl Gene

ENSMUSG00000029687

Gene Name

enhancer of zeste 2 polycomb repressive complex 2 subunit

Synonyms

Enx-1, KMT6, Enx1h

MMRRC Submission

040992-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4119 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

47530139-47595341 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 47544548 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 390 (N390K)

Ref Sequence

ENSEMBL: ENSMUSP00000110263 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081721] [ENSMUST00000092648] [ENSMUST00000114616] [ENSMUST00000114618] [ENSMUST00000169889] [ENSMUST00000204798]

AlphaFold

Q61188

Predicted Effect

probably benign
Transcript: ENSMUST00000081721
AA Change: N429K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000080419
Gene: ENSMUSG00000029687
AA Change: N429K

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 benign
Transcript: ENSMUST00000092648
AA Change: N429K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000090318
Gene: ENSMUSG00000029687
AA Change: N429K

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 benign
Transcript: ENSMUST00000114616
AA Change: N390K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000110263
Gene: ENSMUSG00000029687
AA Change: N390K

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 benign
Transcript: ENSMUST00000114618
AA Change: N425K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110265
Gene: ENSMUSG00000029687
AA Change: N425K

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 benign
Transcript: ENSMUST00000164006

SMART Domains

Protein: ENSMUSP00000133195
Gene: ENSMUSG00000029687

Domain	Start	End	E-Value	Type
Blast:SET	2	96	1e-16	BLAST
low complexity region	98	122	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165492

Predicted Effect

probably benign
Transcript: ENSMUST00000167278

SMART Domains

Protein: ENSMUSP00000128542
Gene: ENSMUSG00000029687

Domain	Start	End	E-Value	Type
Blast:SET	2	43	6e-9	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000169889

SMART Domains

Protein: ENSMUSP00000126481
Gene: ENSMUSG00000029687

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC
Blast:SET	18	150	3e-45	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170311

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181519

Predicted Effect

probably benign
Transcript: ENSMUST00000204243

Predicted Effect

probably benign
Transcript: ENSMUST00000204798

SMART Domains

Protein: ENSMUSP00000144780
Gene: ENSMUSG00000029687

Domain	Start	End	E-Value	Type
Pfam:EZH2_WD-Binding	39	68	4.4e-16	PFAM

Meta Mutation Damage Score

0.1195

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

98% (46/47)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	A	G	6: 124,356,904	L39P	probably damaging	Het
Abcc1	A	G	16: 14,394,013	M138V	probably benign	Het
Abl1	T	A	2: 31,801,727	I1067N	probably damaging	Het
Adam6a	C	T	12: 113,544,574	T189I	probably benign	Het
Ankfy1	G	A	11: 72,714,484		probably null	Het
Aplnr	T	C	2: 85,136,966	Y112H	possibly damaging	Het
Arhgap17	A	G	7: 123,306,994	F313S	probably damaging	Het
Arid1b	T	C	17: 4,995,794		probably benign	Het
Bcas1	G	C	2: 170,378,815	P394A	probably benign	Het
Ccdc116	A	G	16: 17,142,187	S213P	probably damaging	Het
Cdh15	T	C	8: 122,863,423	V365A	probably damaging	Het
Cenpf	A	G	1: 189,653,045	I2346T	probably benign	Het
Chd7	A	G	4: 8,785,658		probably benign	Het
Fbxo7	C	A	10: 86,021,895		probably benign	Het
Fibin	A	G	2: 110,362,690	Y36H	probably damaging	Het
Gm597	A	T	1: 28,777,973	V326D	probably damaging	Het
Gpr37	C	T	6: 25,688,426	R224H	possibly damaging	Het
Hars2	A	T	18: 36,790,488	N363I	probably damaging	Het
Ip6k2	G	A	9: 108,805,648	R319Q	probably benign	Het
Itpr1	G	A	6: 108,394,355	D1140N	probably benign	Het
Lrig2	A	G	3: 104,467,195	V190A	probably benign	Het
Ltk	T	A	2: 119,757,948		probably benign	Het
Morc2a	C	A	11: 3,683,868	T660N	probably benign	Het
Msh3	A	G	13: 92,354,011		probably benign	Het
Myo15b	T	C	11: 115,873,492	S1311P	probably benign	Het
Nbeal1	A	T	1: 60,291,870	I2213L	probably damaging	Het
Olfr1122	T	A	2: 87,387,843	M46K	possibly damaging	Het
Olfr1155	A	G	2: 87,943,443	Y62H	probably damaging	Het
P2ry12	T	C	3: 59,217,841	T138A	probably benign	Het
Pirb	T	C	7: 3,717,575	D308G	probably damaging	Het
Pkn3	A	G	2: 30,083,037		probably benign	Het
Ripor1	T	A	8: 105,618,857		probably benign	Het
Ryr2	T	C	13: 11,779,267	T942A	probably benign	Het
Sptbn5	T	A	2: 120,064,529	D798V	possibly damaging	Het
Synpo2	T	A	3: 123,117,150	D282V	probably damaging	Het
Tnik	T	C	3: 28,666,175	F1287L	probably damaging	Het
Tshz1	T	G	18: 84,014,189	K698T	probably benign	Het
Ttc23l	A	C	15: 10,539,920	V159G	probably damaging	Het
Urb2	T	A	8: 124,047,240	D1503E	probably benign	Het
Usp29	T	A	7: 6,962,806	N549K	probably benign	Het
Vmn2r39	G	A	7: 9,023,674	H443Y	probably benign	Het
Zfp24	A	G	18: 24,014,569	Y229H	possibly damaging	Het
Zfp472	T	A	17: 32,978,215	Y421*	probably null	Het
Zkscan3	T	C	13: 21,393,949	E256G	possibly damaging	Het

Other mutations in Ezh2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01582:Ezh2	APN	6	47556055	nonsense	probably null
IGL01932:Ezh2	APN	6	47532048	missense	probably damaging	0.99
IGL02019:Ezh2	APN	6	47551901	splice site	probably null
IGL02748:Ezh2	APN	6	47558239	missense	probably damaging	1.00
IGL02749:Ezh2	APN	6	47533764	missense	probably damaging	0.99
IGL03171:Ezh2	APN	6	47540781	nonsense	probably null
Peezy	UTSW	6	47533758	nonsense	probably null
R0417:Ezh2	UTSW	6	47551726	missense	probably benign	0.00
R1256:Ezh2	UTSW	6	47541855	nonsense	probably null
R1587:Ezh2	UTSW	6	47552490	critical splice acceptor site	probably null
R1631:Ezh2	UTSW	6	47577658	start codon destroyed	probably null	0.01
R1736:Ezh2	UTSW	6	47576660	missense	probably damaging	1.00
R1775:Ezh2	UTSW	6	47576660	missense	probably damaging	1.00
R2076:Ezh2	UTSW	6	47576633	nonsense	probably null
R2311:Ezh2	UTSW	6	47558260	missense	probably damaging	1.00
R3751:Ezh2	UTSW	6	47556064	missense	possibly damaging	0.94
R4016:Ezh2	UTSW	6	47544582	missense	probably benign
R4214:Ezh2	UTSW	6	47533814	missense	probably damaging	1.00
R4770:Ezh2	UTSW	6	47540696	missense	probably damaging	1.00
R5133:Ezh2	UTSW	6	47540750	missense	probably damaging	1.00
R5137:Ezh2	UTSW	6	47532080	splice site	probably null
R5199:Ezh2	UTSW	6	47551725	missense	probably benign	0.01
R5343:Ezh2	UTSW	6	47576615	missense	probably damaging	1.00
R5584:Ezh2	UTSW	6	47532016	missense	probably damaging	1.00
R5942:Ezh2	UTSW	6	47577582	missense	possibly damaging	0.94
R6057:Ezh2	UTSW	6	47552423	missense	probably damaging	1.00
R7247:Ezh2	UTSW	6	47533774	missense	probably damaging	1.00
R7284:Ezh2	UTSW	6	47544519	missense	probably benign	0.00
R7365:Ezh2	UTSW	6	47533758	nonsense	probably null
R7382:Ezh2	UTSW	6	47551836	missense	possibly damaging	0.55
R7718:Ezh2	UTSW	6	47554191	missense	probably benign
R7910:Ezh2	UTSW	6	47556143	missense	probably damaging	0.96
R8206:Ezh2	UTSW	6	47532900	critical splice donor site	probably null
R8428:Ezh2	UTSW	6	47545811	nonsense	probably null
R8746:Ezh2	UTSW	6	47576600	missense	probably damaging	0.99
R8836:Ezh2	UTSW	6	47554262	missense	probably benign
R8925:Ezh2	UTSW	6	47533779	missense	possibly damaging	0.89
R8927:Ezh2	UTSW	6	47533779	missense	possibly damaging	0.89
R9039:Ezh2	UTSW	6	47551737	missense	possibly damaging	0.80
R9171:Ezh2	UTSW	6	47554200	missense	probably benign
R9642:Ezh2	UTSW	6	47544519	missense	probably benign	0.00
R9716:Ezh2	UTSW	6	47554207	missense	possibly damaging	0.95
R9774:Ezh2	UTSW	6	47542381	missense	probably benign	0.00
X0021:Ezh2	UTSW	6	47554169	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TCTATGTCTGGATAATGAGCACATG -3'
(R):5'- CGTCTTTGCATATGTGTCAGTATAC -3'

Sequencing Primer
(F):5'- GGATAATGAGCACATGTTATTCCTG -3'
(R):5'- AACATCCTGAGTATGGGTCCTTAC -3'

Posted On

2015-05-14