Incidental Mutation 'R8206:Ezh2'
ID 635909
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 067629-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8206 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 47507073-47572275 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 47509834 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000080419 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081721] [ENSMUST00000081721] [ENSMUST00000092648] [ENSMUST00000092648] [ENSMUST00000114616] [ENSMUST00000114616] [ENSMUST00000114618] [ENSMUST00000114618]
AlphaFold Q61188
PDB Structure Structural basis of EZH2 recognition by EED [X-RAY DIFFRACTION]
Predicted Effect probably null
Transcript: ENSMUST00000081721
SMART Domains Protein: ENSMUSP00000080419
Gene: ENSMUSG00000029687

DomainStartEndE-ValueType
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: ENSMUST00000081721
SMART Domains Protein: ENSMUSP00000080419
Gene: ENSMUSG00000029687

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: ENSMUST00000092648
SMART Domains Protein: ENSMUSP00000090318
Gene: ENSMUSG00000029687

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: ENSMUST00000114616
SMART Domains Protein: ENSMUSP00000110263
Gene: ENSMUSG00000029687

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: ENSMUST00000114618
SMART Domains Protein: ENSMUSP00000110265
Gene: ENSMUSG00000029687

DomainStartEndE-ValueType
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
Predicted Effect probably null
Transcript: ENSMUST00000204243
Meta Mutation Damage Score 0.9598 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (50/50)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano4 A G 10: 88,860,958 (GRCm39) Y342H probably damaging Het
Aqp4 T A 18: 15,526,716 (GRCm39) D255V possibly damaging Het
Arhgap26 C A 18: 39,439,803 (GRCm39) S247* probably null Het
Arid4a A G 12: 71,133,361 (GRCm39) D1154G probably damaging Het
Atpaf2 A G 11: 60,295,304 (GRCm39) I182T probably damaging Het
Cacna1i C A 15: 80,274,016 (GRCm39) probably null Het
Ccdc38 A G 10: 93,399,146 (GRCm39) S205G probably damaging Het
Cep63 A G 9: 102,498,470 (GRCm39) probably benign Het
Cripto G A 9: 110,773,352 (GRCm39) probably benign Het
Cyp24a1 T C 2: 170,333,589 (GRCm39) T255A possibly damaging Het
Dlg5 A G 14: 24,210,336 (GRCm39) S787P possibly damaging Het
Dnah6 A T 6: 73,014,549 (GRCm39) C3679* probably null Het
Dpy19l3 T C 7: 35,429,155 (GRCm39) Y95C probably damaging Het
Erc2 G A 14: 28,024,972 (GRCm39) probably null Het
Fgfr1 A G 8: 26,060,258 (GRCm39) T463A probably damaging Het
Flvcr2 GTAGTGTATA GTA 12: 85,849,922 (GRCm39) probably null Het
Fsip2 T C 2: 82,820,808 (GRCm39) S5514P possibly damaging Het
Glrb A G 3: 80,758,373 (GRCm39) Y347H probably damaging Het
Gm14325 C A 2: 177,474,767 (GRCm39) C105F probably damaging Het
Hgsnat T C 8: 26,444,665 (GRCm39) T428A probably damaging Het
Ighv1-76 T C 12: 115,811,934 (GRCm39) M1V probably null Het
Inppl1 A G 7: 101,472,783 (GRCm39) I1207T possibly damaging Het
Kmt2c T A 5: 25,519,537 (GRCm39) Q2191L probably damaging Het
Krt79 T A 15: 101,848,705 (GRCm39) probably null Het
Mast4 G A 13: 102,872,247 (GRCm39) L2374F probably damaging Het
Mgam A G 6: 40,657,169 (GRCm39) N951S probably benign Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Naip6 A T 13: 100,431,344 (GRCm39) C1164* probably null Het
Nfatc2ip G T 7: 125,989,906 (GRCm39) D189E probably damaging Het
Nrp1 A G 8: 129,184,438 (GRCm39) D361G probably damaging Het
Nrp2 T C 1: 62,786,374 (GRCm39) I293T probably damaging Het
Pate5 A T 9: 35,750,719 (GRCm39) F34L possibly damaging Het
Pde3a T C 6: 141,433,611 (GRCm39) V831A probably damaging Het
Pirb A G 7: 3,715,905 (GRCm39) probably null Het
Plch1 G T 3: 63,610,047 (GRCm39) probably null Het
Plekhh2 A G 17: 84,898,277 (GRCm39) T973A possibly damaging Het
Ppp1r35 T A 5: 137,778,296 (GRCm39) I97K unknown Het
Ppp1r3c C T 19: 36,710,846 (GRCm39) G308E probably benign Het
Prss12 G A 3: 123,258,611 (GRCm39) probably null Het
Rad51b A G 12: 79,361,715 (GRCm39) D142G probably damaging Het
Slc13a3 C T 2: 165,248,745 (GRCm39) G553D probably damaging Het
Spata31d1d A C 13: 59,879,344 (GRCm39) V64G probably benign Het
Srp68 G A 11: 116,164,809 (GRCm39) R42C probably damaging Het
Syne2 T C 12: 76,062,365 (GRCm39) V4229A probably benign Het
Tas2r144 G A 6: 42,192,325 (GRCm39) V22M probably damaging Het
Tcf7l1 A G 6: 72,604,395 (GRCm39) L583P probably damaging Het
Tdrd3 A G 14: 87,749,214 (GRCm39) D708G probably benign Het
Tns4 A T 11: 98,976,627 (GRCm39) L98Q probably damaging Het
Zfp677 T A 17: 21,612,717 (GRCm39) probably null Het
Other mutations in Ezh2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- CTGCAAGTGGTTGGGACTCTAG -3'
(R):5'- TAGCTACTCTTTGATAGCCTTGAGG -3'

Sequencing Primer
(F):5'- GACTCTAGATTGTTTCCTGTACACAG -3'
(R):5'- GATAGCCTTGAGGGACCAAAATTCTC -3'
Posted On 2020-07-13