Incidental Mutation 'IGL01693:Ezh1'
ID104180
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ezh1
Ensembl Gene ENSMUSG00000006920
Gene Nameenhancer of zeste 1 polycomb repressive complex 2 subunit
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01693
Quality Score
Status
Chromosome11
Chromosomal Location101191115-101226463 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 101215258 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Isoleucine at position 100 (M100I)
Ref Sequence ENSEMBL: ENSMUSP00000102906 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100417] [ENSMUST00000107284] [ENSMUST00000107285]
Predicted Effect probably benign
Transcript: ENSMUST00000100417
AA Change: M97I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097984
Gene: ENSMUSG00000006920
AA Change: M97I

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 benign
Transcript: ENSMUST00000107284
AA Change: M97I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102905
Gene: ENSMUSG00000006920
AA Change: M97I

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 benign
Transcript: ENSMUST00000107285
AA Change: M100I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102906
Gene: ENSMUSG00000006920
AA Change: M100I

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: ENSMUST00000151291
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3830406C13Rik T C 14: 12,287,380 L55P probably damaging Het
Akr1b8 T A 6: 34,363,336 M145K possibly damaging Het
Arhgap39 T C 15: 76,725,967 D943G probably null Het
Arhgap42 A T 9: 9,006,506 W630R probably damaging Het
Bbs5 T A 2: 69,663,080 S225T probably benign Het
Cacna1f A T X: 7,625,367 N1159Y probably damaging Het
Catsperg1 A G 7: 29,185,098 probably benign Het
Cep97 A T 16: 55,930,594 W20R probably damaging Het
Cmtm8 G A 9: 114,789,705 T160M probably damaging Het
Csf2ra A G 19: 61,225,996 S244P possibly damaging Het
Dnah7b C T 1: 46,358,147 P3913S probably benign Het
Gadl1 C A 9: 115,949,585 P189Q probably damaging Het
Gcnt2 G A 13: 40,888,073 S236N probably benign Het
Gm17689 G A 9: 36,581,366 T81I probably benign Het
H1fnt A C 15: 98,256,381 Y296D unknown Het
Hmcn1 T A 1: 150,583,280 D5191V probably damaging Het
Mycbp2 A T 14: 103,127,979 D4194E probably damaging Het
Ncf2 C A 1: 152,824,323 T203K probably benign Het
Olfr76 C A 19: 12,120,557 V40L probably benign Het
Phf8 T A X: 151,550,875 V113E probably damaging Het
Pkm G T 9: 59,670,522 K207N probably damaging Het
Slco1a6 G T 6: 142,133,209 S120* probably null Het
Sox10 C T 15: 79,156,273 V195M possibly damaging Het
Swt1 A G 1: 151,422,104 I24T probably benign Het
Thada T C 17: 84,446,644 T300A probably benign Het
Tmem2 A C 19: 21,801,887 I354L probably benign Het
Vmn2r17 T C 5: 109,452,518 Y561H probably damaging Het
Wdr78 T C 4: 103,087,330 probably null Het
Other mutations in Ezh1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00419:Ezh1 APN 11 101194506 splice site probably null
IGL00481:Ezh1 APN 11 101199302 missense possibly damaging 0.68
IGL01327:Ezh1 APN 11 101203436 missense probably damaging 0.97
IGL01475:Ezh1 APN 11 101192961 missense probably damaging 1.00
IGL01896:Ezh1 APN 11 101213755 missense probably benign 0.00
IGL02022:Ezh1 APN 11 101199340 missense probably damaging 1.00
IGL02024:Ezh1 APN 11 101199340 missense probably damaging 1.00
IGL02028:Ezh1 APN 11 101199340 missense probably damaging 1.00
IGL02053:Ezh1 APN 11 101199943 splice site probably benign
IGL02101:Ezh1 APN 11 101195566 missense possibly damaging 0.50
IGL02445:Ezh1 APN 11 101210687 missense possibly damaging 0.49
IGL02882:Ezh1 APN 11 101203289 missense probably benign 0.02
IGL03303:Ezh1 APN 11 101195671 splice site probably null
IGL03493:Ezh1 APN 11 101203791 missense probably benign 0.02
R1099:Ezh1 UTSW 11 101193808 critical splice acceptor site probably null
R1119:Ezh1 UTSW 11 101210535 splice site probably benign
R1434:Ezh1 UTSW 11 101194917 missense probably damaging 1.00
R1477:Ezh1 UTSW 11 101192984 missense probably damaging 0.98
R2114:Ezh1 UTSW 11 101208185 missense probably benign 0.04
R3105:Ezh1 UTSW 11 101195642 missense probably damaging 1.00
R3106:Ezh1 UTSW 11 101195642 missense probably damaging 1.00
R4272:Ezh1 UTSW 11 101194908 missense probably damaging 1.00
R4820:Ezh1 UTSW 11 101203768 missense probably damaging 1.00
R5016:Ezh1 UTSW 11 101199237 intron probably benign
R5237:Ezh1 UTSW 11 101216993 critical splice donor site probably null
R6392:Ezh1 UTSW 11 101203804 missense probably damaging 0.96
R6892:Ezh1 UTSW 11 101199361 nonsense probably null
R7215:Ezh1 UTSW 11 101215299 missense probably benign 0.01
R7488:Ezh1 UTSW 11 101200900 missense possibly damaging 0.51
R7604:Ezh1 UTSW 11 101217029 missense probably benign
R7819:Ezh1 UTSW 11 101194914 missense probably damaging 0.98
Posted On2014-01-21