Incidental Mutation 'IGL02445:Ezh1'
ID 293555
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 # IGL02445
Quality Score
Status
Chromosome 11
Chromosomal Location 101081941-101117268 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 101101513 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 175 (V175G)
Ref Sequence ENSEMBL: ENSMUSP00000102905 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100417] [ENSMUST00000107284] [ENSMUST00000107285]
AlphaFold P70351
Predicted Effect possibly damaging
Transcript: ENSMUST00000100417
AA Change: V175G

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000097984
Gene: ENSMUSG00000006920
AA Change: V175G

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 possibly damaging
Transcript: ENSMUST00000107284
AA Change: V175G

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000102905
Gene: ENSMUSG00000006920
AA Change: V175G

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: V178G

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000102906
Gene: ENSMUSG00000006920
AA Change: V178G

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: ENSMUST00000154211
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb C T 5: 114,383,198 (GRCm39) T2127M probably damaging Het
Acp2 A G 2: 91,036,606 (GRCm39) D175G possibly damaging Het
Adamts12 T C 15: 11,286,798 (GRCm39) L801P probably damaging Het
Adcy10 T G 1: 165,398,313 (GRCm39) V1470G possibly damaging Het
Ankar T G 1: 72,705,524 (GRCm39) K829Q probably benign Het
Arhgef10l T C 4: 140,274,318 (GRCm39) Y531C probably benign Het
Atm T C 9: 53,365,630 (GRCm39) I2590V probably benign Het
Brme1 T A 8: 84,886,137 (GRCm39) M31K probably benign Het
Cblb T C 16: 51,986,668 (GRCm39) L485P probably damaging Het
Col4a1 T C 8: 11,283,911 (GRCm39) probably benign Het
Coprs T C 8: 13,935,797 (GRCm39) K74R possibly damaging Het
Cul3 A T 1: 80,281,886 (GRCm39) L31M possibly damaging Het
Cyp3a59 C A 5: 146,033,463 (GRCm39) Q200K probably benign Het
Ddx19b C A 8: 111,735,456 (GRCm39) V402L probably damaging Het
Disc1 T A 8: 125,875,142 (GRCm39) probably benign Het
Dsg4 C T 18: 20,579,307 (GRCm39) probably benign Het
Dspp A C 5: 104,324,963 (GRCm39) Y442S probably damaging Het
Dtl C T 1: 191,290,172 (GRCm39) probably null Het
Hepacam2 C T 6: 3,483,481 (GRCm39) G100D probably damaging Het
Herc1 T A 9: 66,340,764 (GRCm39) H1704Q possibly damaging Het
Itprid2 G A 2: 79,487,842 (GRCm39) E642K probably damaging Het
Kif26a T C 12: 112,140,177 (GRCm39) S469P probably damaging Het
Lefty1 T C 1: 180,765,242 (GRCm39) M270T probably benign Het
Nap1l3 A T X: 121,305,752 (GRCm39) V322D probably damaging Het
Ndufv2 A G 17: 66,387,889 (GRCm39) probably benign Het
Or14j5 A T 17: 38,162,008 (GRCm39) H175L probably damaging Het
Or4p18 G A 2: 88,232,456 (GRCm39) T274I possibly damaging Het
Or8b55 T C 9: 38,726,901 (GRCm39) I34T possibly damaging Het
Otol1 A T 3: 69,935,367 (GRCm39) D453V probably damaging Het
Papolb G A 5: 142,514,480 (GRCm39) H388Y probably benign Het
Ppp1r10 A G 17: 36,237,094 (GRCm39) E128G probably damaging Het
Prss12 T A 3: 123,280,669 (GRCm39) D451E probably damaging Het
Psmc1 T C 12: 100,081,087 (GRCm39) probably benign Het
Pygo1 T A 9: 72,833,222 (GRCm39) I10N probably benign Het
Rab31 C T 17: 66,028,998 (GRCm39) probably null Het
Ret G A 6: 118,158,860 (GRCm39) T184I probably damaging Het
Rhd A T 4: 134,611,481 (GRCm39) M214L possibly damaging Het
Ripor3 C A 2: 167,834,682 (GRCm39) probably benign Het
Sec16a A G 2: 26,312,052 (GRCm39) L2036P probably benign Het
Slc26a3 C A 12: 31,507,051 (GRCm39) D335E possibly damaging Het
Taf6 A G 5: 138,182,756 (GRCm39) probably benign Het
Tnk2 T C 16: 32,494,408 (GRCm39) V442A probably benign Het
Virma A G 4: 11,527,029 (GRCm39) M1143V probably damaging Het
Vmn2r77 A T 7: 86,452,848 (GRCm39) R522* probably null Het
Vmn2r-ps129 A G 17: 23,227,393 (GRCm39) noncoding transcript Het
Zfp473 A G 7: 44,383,107 (GRCm39) C408R probably damaging 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
IGL02022:Ezh1 APN 11 101,090,166 (GRCm39) missense probably damaging 1.00
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
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 2015-04-16