Incidental Mutation 'IGL02022:Ezh1'
ID 184014
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ezh1
Ensembl Gene ENSMUSG00000006920
Gene Name enhancer of zeste 1 polycomb repressive complex 2 subunit
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02022
Quality Score
Status
Chromosome 11
Chromosomal Location 101081941-101117268 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 101090166 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 529 (H529Q)
Ref Sequence ENSEMBL: ENSMUSP00000102906 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100417] [ENSMUST00000107284] [ENSMUST00000107285]
AlphaFold P70351
Predicted Effect probably damaging
Transcript: ENSMUST00000100417
AA Change: H526Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097984
Gene: ENSMUSG00000006920
AA Change: H526Q

DomainStartEndE-ValueType
Pfam:EZH2_WD-Binding 39 68 1.8e-20 PFAM
SANT 135 263 3.86e1 SMART
low complexity region 369 381 N/A INTRINSIC
SANT 430 478 3.03e-4 SMART
PDB:4MI0|A 521 558 2e-12 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000107284
AA Change: H526Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102905
Gene: ENSMUSG00000006920
AA Change: H526Q

DomainStartEndE-ValueType
Pfam:EZH2_WD-Binding 39 68 4.5e-21 PFAM
SANT 135 263 3.86e1 SMART
low complexity region 369 381 N/A INTRINSIC
SANT 430 478 3.03e-4 SMART
CXC 556 593 8.14e-2 SMART
SET 613 734 7.34e-39 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107285
AA Change: H529Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102906
Gene: ENSMUSG00000006920
AA Change: H529Q

DomainStartEndE-ValueType
Pfam:EZH2_WD-Binding 42 71 5.1e-20 PFAM
SANT 138 266 3.86e1 SMART
low complexity region 372 384 N/A INTRINSIC
SANT 433 481 3.03e-4 SMART
CXC 559 596 8.14e-2 SMART
SET 616 737 7.34e-39 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128974
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134622
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138835
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146884
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the Polycomb-group (PcG) family. The encoded protein is interchangeable with the related Enhancer of zeste 2 (Ezh2) protein as a core component of the polycomb repressive complex 2 (PRC2), which methylates histone H3 at lysine 27 and results in the transcriptional repression of affected target genes. This complex is involved in carrying out cell-fate decisions during embryonic stem cell differentiation. [provided by RefSeq, Sep 2014]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile, and healthy. Mice homozygous for a conditional allele activated in hematopoietic stem cells exhibit bone marrow failure with defective HSC maintenance and premature senescence. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik T C 5: 146,120,358 (GRCm39) Y160C probably damaging Het
Abi3bp T C 16: 56,412,999 (GRCm39) S314P probably damaging Het
Abra T C 15: 41,732,802 (GRCm39) H88R probably benign Het
Bsn A G 9: 107,987,617 (GRCm39) probably benign Het
Chd3 A C 11: 69,251,886 (GRCm39) C123G probably damaging Het
Clca3b A C 3: 144,547,171 (GRCm39) probably null Het
Cnot7 G T 8: 40,952,386 (GRCm39) P190T probably damaging Het
Cps1 A T 1: 67,212,031 (GRCm39) probably benign Het
Dennd2d A G 3: 106,407,220 (GRCm39) T424A probably benign Het
Dnhd1 C T 7: 105,327,516 (GRCm39) R54C probably damaging Het
Efhd1 G A 1: 87,192,334 (GRCm39) E55K probably damaging Het
Ep300 T C 15: 81,495,638 (GRCm39) probably benign Het
Klhl3 A T 13: 58,198,878 (GRCm39) S201T possibly damaging Het
Krt1c A G 15: 101,724,953 (GRCm39) F219S probably damaging Het
Lrp1b C T 2: 41,172,172 (GRCm39) D751N probably damaging Het
Lyst T A 13: 13,838,629 (GRCm39) C1848* probably null Het
Macf1 A G 4: 123,284,842 (GRCm39) probably null Het
Med10 T C 13: 69,961,819 (GRCm39) probably benign Het
Msh4 T A 3: 153,592,593 (GRCm39) T170S probably damaging Het
Or52n3 T C 7: 104,530,141 (GRCm39) C76R probably damaging Het
Pelp1 T A 11: 70,297,153 (GRCm39) probably benign Het
Prex2 G A 1: 11,367,963 (GRCm39) V1595I probably benign Het
Prpf8 C T 11: 75,392,660 (GRCm39) R1617* probably null Het
Rabep1 T A 11: 70,825,385 (GRCm39) L684Q probably damaging Het
Slc22a4 G A 11: 53,874,435 (GRCm39) probably benign Het
Smox T C 2: 131,362,037 (GRCm39) F153S probably damaging Het
Tma16 A G 8: 66,939,062 (GRCm39) probably null Het
Unc80 G T 1: 66,665,675 (GRCm39) R1814L possibly damaging Het
Vmn2r108 C T 17: 20,691,987 (GRCm39) D179N possibly damaging Het
Washc2 A G 6: 116,236,126 (GRCm39) E1199G probably benign Het
Zic1 C A 9: 91,244,525 (GRCm39) probably null Het
Other mutations in Ezh1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00419:Ezh1 APN 11 101,085,332 (GRCm39) splice site probably null
IGL00481:Ezh1 APN 11 101,090,128 (GRCm39) missense possibly damaging 0.68
IGL01327:Ezh1 APN 11 101,094,262 (GRCm39) missense probably damaging 0.97
IGL01475:Ezh1 APN 11 101,083,787 (GRCm39) missense probably damaging 1.00
IGL01693:Ezh1 APN 11 101,106,084 (GRCm39) missense probably benign
IGL01896:Ezh1 APN 11 101,104,581 (GRCm39) missense probably benign 0.00
IGL02024:Ezh1 APN 11 101,090,166 (GRCm39) missense probably damaging 1.00
IGL02028:Ezh1 APN 11 101,090,166 (GRCm39) missense probably damaging 1.00
IGL02053:Ezh1 APN 11 101,090,769 (GRCm39) splice site probably benign
IGL02101:Ezh1 APN 11 101,086,392 (GRCm39) missense possibly damaging 0.50
IGL02445:Ezh1 APN 11 101,101,513 (GRCm39) missense possibly damaging 0.49
IGL02882:Ezh1 APN 11 101,094,115 (GRCm39) missense probably benign 0.02
IGL03303:Ezh1 APN 11 101,086,497 (GRCm39) splice site probably null
IGL03493:Ezh1 APN 11 101,094,617 (GRCm39) missense probably benign 0.02
R1099:Ezh1 UTSW 11 101,084,634 (GRCm39) critical splice acceptor site probably null
R1119:Ezh1 UTSW 11 101,101,361 (GRCm39) splice site probably benign
R1434:Ezh1 UTSW 11 101,085,743 (GRCm39) missense probably damaging 1.00
R1477:Ezh1 UTSW 11 101,083,810 (GRCm39) missense probably damaging 0.98
R2114:Ezh1 UTSW 11 101,099,011 (GRCm39) missense probably benign 0.04
R3105:Ezh1 UTSW 11 101,086,468 (GRCm39) missense probably damaging 1.00
R3106:Ezh1 UTSW 11 101,086,468 (GRCm39) missense probably damaging 1.00
R4272:Ezh1 UTSW 11 101,085,734 (GRCm39) missense probably damaging 1.00
R4820:Ezh1 UTSW 11 101,094,594 (GRCm39) missense probably damaging 1.00
R5016:Ezh1 UTSW 11 101,090,063 (GRCm39) intron probably benign
R5237:Ezh1 UTSW 11 101,107,819 (GRCm39) critical splice donor site probably null
R6392:Ezh1 UTSW 11 101,094,630 (GRCm39) missense probably damaging 0.96
R6892:Ezh1 UTSW 11 101,090,187 (GRCm39) nonsense probably null
R7215:Ezh1 UTSW 11 101,106,125 (GRCm39) missense probably benign 0.01
R7488:Ezh1 UTSW 11 101,091,726 (GRCm39) missense possibly damaging 0.51
R7604:Ezh1 UTSW 11 101,107,855 (GRCm39) missense probably benign
R7819:Ezh1 UTSW 11 101,085,740 (GRCm39) missense probably damaging 0.98
R8696:Ezh1 UTSW 11 101,100,305 (GRCm39) missense probably benign
R9168:Ezh1 UTSW 11 101,086,433 (GRCm39) missense probably damaging 1.00
R9382:Ezh1 UTSW 11 101,094,265 (GRCm39) missense possibly damaging 0.64
R9531:Ezh1 UTSW 11 101,104,657 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07