Incidental Mutation 'R1775:Ezh2'
ID 204323
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 039806-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1775 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 47507073-47572275 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 47553594 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 41 (M41T)
Ref Sequence ENSEMBL: ENSMUSP00000144780 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081721] [ENSMUST00000092648] [ENSMUST00000114616] [ENSMUST00000114618] [ENSMUST00000133043] [ENSMUST00000204798]
AlphaFold Q61188
Predicted Effect probably benign
Transcript: ENSMUST00000081721
AA Change: M41T

PolyPhen 2 Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000080419
Gene: ENSMUSG00000029687
AA Change: M41T

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 benign
Transcript: ENSMUST00000092648
AA Change: M41T

PolyPhen 2 Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000090318
Gene: ENSMUSG00000029687
AA Change: M41T

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 possibly damaging
Transcript: ENSMUST00000114616
AA Change: M41T

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000110263
Gene: ENSMUSG00000029687
AA Change: M41T

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 benign
Transcript: ENSMUST00000114618
AA Change: M41T

PolyPhen 2 Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000110265
Gene: ENSMUSG00000029687
AA Change: M41T

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 damaging
Transcript: ENSMUST00000133043
AA Change: M41T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000118663
Gene: ENSMUSG00000029687
AA Change: M41T

DomainStartEndE-ValueType
Pfam:EZH2_WD-Binding 39 68 2.5e-20 PFAM
Blast:SANT 150 233 3e-43 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170327
Predicted Effect probably damaging
Transcript: ENSMUST00000204798
AA Change: M41T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000144780
Gene: ENSMUSG00000029687
AA Change: M41T

DomainStartEndE-ValueType
Pfam:EZH2_WD-Binding 39 68 4.4e-16 PFAM
Meta Mutation Damage Score 0.3648 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.5%
  • 20x: 92.9%
Validation Efficiency 98% (95/97)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J04Rik A G 12: 11,272,143 (GRCm39) S20P unknown Het
4921528I07Rik G A 9: 114,108,386 (GRCm39) noncoding transcript Het
4930562C15Rik G A 16: 4,669,422 (GRCm39) probably null Het
4933427I04Rik A G 4: 123,754,286 (GRCm39) T67A possibly damaging Het
Abcc2 A T 19: 43,786,858 (GRCm39) N160Y possibly damaging Het
Acaca A G 11: 84,191,248 (GRCm39) D155G possibly damaging Het
Afg3l1 G A 8: 124,219,639 (GRCm39) R389Q possibly damaging Het
Ank2 G A 3: 126,728,196 (GRCm39) T799M probably benign Het
Anxa2 T C 9: 69,395,363 (GRCm39) Y202H possibly damaging Het
Arhgef33 A G 17: 80,681,172 (GRCm39) T771A probably benign Het
Atp12a T C 14: 56,610,046 (GRCm39) V182A probably benign Het
Birc6 T C 17: 74,919,281 (GRCm39) L210S probably damaging Het
Car3 A G 3: 14,929,492 (GRCm39) T73A probably benign Het
Cd5l T C 3: 87,275,966 (GRCm39) L312P probably damaging Het
Celf5 A G 10: 81,303,138 (GRCm39) probably benign Het
Cep290 T A 10: 100,332,672 (GRCm39) V257E probably damaging Het
Cntrob T C 11: 69,211,693 (GRCm39) D177G possibly damaging Het
Copg2 A T 6: 30,787,271 (GRCm39) F658I probably damaging Het
Csmd3 T C 15: 47,763,135 (GRCm39) T1234A probably damaging Het
Dhx35 A G 2: 158,648,357 (GRCm39) T72A probably damaging Het
Dmrtc2 A T 7: 24,573,792 (GRCm39) H209L possibly damaging Het
Eml5 G T 12: 98,818,963 (GRCm39) probably null Het
Evpl T C 11: 116,114,486 (GRCm39) E1068G possibly damaging Het
Fmo3 A G 1: 162,796,294 (GRCm39) S93P possibly damaging Het
Gdi2 A G 13: 3,610,018 (GRCm39) Y213C possibly damaging Het
Gpr15 A T 16: 58,538,921 (GRCm39) I56K probably benign Het
Gria2 G T 3: 80,598,645 (GRCm39) S796R probably benign Het
Hectd4 T A 5: 121,429,254 (GRCm39) probably benign Het
Hgfac T C 5: 35,200,194 (GRCm39) probably benign Het
Hspg2 C T 4: 137,247,467 (GRCm39) R1200W probably damaging Het
Ift52 G A 2: 162,867,275 (GRCm39) D78N possibly damaging Het
Iqca1 C A 1: 90,009,138 (GRCm39) W415L probably damaging Het
Ism1 A T 2: 139,587,963 (GRCm39) K236N probably damaging Het
Itgb6 C T 2: 60,502,988 (GRCm39) W43* probably null Het
Kcnk18 T A 19: 59,223,773 (GRCm39) I306N probably damaging Het
Kctd8 T C 5: 69,497,903 (GRCm39) K248E probably damaging Het
Layn T A 9: 50,970,833 (GRCm39) I237F probably benign Het
Lce3f C T 3: 92,900,248 (GRCm39) P23L unknown Het
Lct A G 1: 128,228,038 (GRCm39) F1152L probably damaging Het
Mettl25b A G 3: 87,831,124 (GRCm39) S404P probably damaging Het
Mxra8 T C 4: 155,927,531 (GRCm39) I413T probably damaging Het
Nedd9 A G 13: 41,471,438 (GRCm39) V187A probably benign Het
Net1 A G 13: 3,937,642 (GRCm39) L207P probably damaging Het
Neurod1 G T 2: 79,284,781 (GRCm39) P201T probably benign Het
Nlrp1b A G 11: 71,052,647 (GRCm39) F927S probably damaging Het
Ntrk3 T A 7: 78,005,789 (GRCm39) H524L possibly damaging Het
Nup98 A C 7: 101,784,144 (GRCm39) S1063A probably benign Het
Or10ak11 T A 4: 118,687,065 (GRCm39) M191L probably benign Het
Or11h4b G T 14: 50,918,623 (GRCm39) P156Q possibly damaging Het
Or56b1 G A 7: 104,285,366 (GRCm39) V162I probably benign Het
Or5b97 C A 19: 12,878,599 (GRCm39) V182F probably benign Het
Or5m9b G A 2: 85,905,104 (GRCm39) V7I possibly damaging Het
Or6d15 T C 6: 116,559,925 (GRCm39) probably benign Het
Pdzd2 G A 15: 12,592,546 (GRCm39) R33W probably damaging Het
Phf21a G A 2: 92,160,860 (GRCm39) V243I probably damaging Het
Ppp1r12b A G 1: 134,821,086 (GRCm39) probably null Het
Rexo5 T C 7: 119,444,634 (GRCm39) V703A probably benign Het
Rgs4 A G 1: 169,572,847 (GRCm39) S30P probably benign Het
Rxra C A 2: 27,646,256 (GRCm39) D340E probably damaging Het
Samhd1 A G 2: 156,949,467 (GRCm39) V473A probably benign Het
Scn3a T A 2: 65,302,686 (GRCm39) K1253N probably damaging Het
Scn7a T C 2: 66,511,299 (GRCm39) N1207S probably benign Het
Sec24d T A 3: 123,130,166 (GRCm39) I443N probably damaging Het
Sema4g T A 19: 44,987,681 (GRCm39) probably null Het
Sema5b A G 16: 35,480,694 (GRCm39) K787R probably benign Het
Serpinc1 A G 1: 160,817,217 (GRCm39) N104D probably benign Het
Sfn T C 4: 133,328,542 (GRCm39) H180R probably damaging Het
Slc22a6 G T 19: 8,596,471 (GRCm39) probably null Het
Slc9a8 T C 2: 167,299,278 (GRCm39) S217P probably benign Het
Smc6 A G 12: 11,359,270 (GRCm39) N965D probably benign Het
Sod2 T A 17: 13,233,919 (GRCm39) I177N probably damaging Het
Sp4 A T 12: 118,263,335 (GRCm39) I237K probably damaging Het
Sulf2 T C 2: 165,921,532 (GRCm39) K697R probably benign Het
Svs4 A T 2: 164,119,005 (GRCm39) D110E unknown Het
Tas1r1 T A 4: 152,122,675 (GRCm39) R57* probably null Het
Tlr5 T C 1: 182,801,287 (GRCm39) I197T probably damaging Het
Tmc3 T C 7: 83,261,740 (GRCm39) V606A probably benign Het
Tmem241 T A 18: 12,251,469 (GRCm39) L37F probably damaging Het
Tmem59l A T 8: 70,938,903 (GRCm39) N90K probably damaging Het
Tram1 A C 1: 13,646,680 (GRCm39) probably benign Het
Trim15 T A 17: 37,176,061 (GRCm39) H162L probably benign Het
Ttc28 T A 5: 111,424,677 (GRCm39) Y1501N probably benign Het
Ttc34 T C 4: 154,946,671 (GRCm39) V857A probably benign Het
Tulp4 A G 17: 6,189,321 (GRCm39) T48A probably damaging Het
Usp9y T C Y: 1,368,089 (GRCm39) E939G probably damaging Het
Utp20 A G 10: 88,606,670 (GRCm39) I1634T probably benign Het
Vmn2r72 T C 7: 85,387,378 (GRCm39) M729V probably benign Het
Vps13c C T 9: 67,788,729 (GRCm39) T334M probably damaging Het
Wnk4 C G 11: 101,167,166 (GRCm39) probably benign Het
Xpo1 A G 11: 23,221,193 (GRCm39) N97D probably benign Het
Xpo4 A T 14: 57,841,129 (GRCm39) F518Y probably benign Het
Zfp668 C T 7: 127,465,778 (GRCm39) V469I possibly damaging Het
Zfp85 C A 13: 67,897,823 (GRCm39) C83F probably damaging 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
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
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'- ACATCCTGAAGTCTGTGAATTCTTC -3'
(R):5'- CCCTTTATTTACAAGCAAGTAGGAG -3'

Sequencing Primer
(F):5'- AGTCTGTGAATTCTTCTCAATAAGC -3'
(R):5'- CAAGCAAGTAGGAGTAATGTTTTTG -3'
Posted On 2014-06-23