Incidental Mutation 'IGL02024:Ezh1'
ID 184103
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 # IGL02024
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass G A 6: 23,113,705 (GRCm39) H246Y probably damaging Het
Abat G A 16: 8,429,000 (GRCm39) A322T probably damaging Het
Bcat1 A G 6: 144,978,564 (GRCm39) V152A probably damaging Het
Btaf1 A G 19: 36,969,826 (GRCm39) probably benign Het
Elavl2 T C 4: 91,141,776 (GRCm39) T291A probably benign Het
Fcgbp G A 7: 27,805,799 (GRCm39) C2026Y probably damaging Het
Fcgrt T A 7: 44,744,682 (GRCm39) H258L probably damaging Het
Galnt6 C T 15: 100,601,374 (GRCm39) D302N probably benign Het
Gldc T A 19: 30,078,227 (GRCm39) R923S probably damaging Het
Hspg2 G T 4: 137,267,384 (GRCm39) A2033S probably damaging Het
Htr2c T A X: 145,858,921 (GRCm39) M77K probably damaging Het
Ifi208 A G 1: 173,510,856 (GRCm39) Y337C probably damaging Het
Ints11 G T 4: 155,972,972 (GRCm39) W554L probably damaging Het
Itgbl1 T A 14: 124,094,904 (GRCm39) C186S probably damaging Het
Lipf A G 19: 33,953,995 (GRCm39) Y362C probably damaging Het
Map2k7 T A 8: 4,297,663 (GRCm39) S421R possibly damaging Het
Mroh9 T G 1: 162,890,071 (GRCm39) N222T possibly damaging Het
Msl3 C A X: 167,453,247 (GRCm39) R89L probably benign Het
Nrip1 T A 16: 76,088,563 (GRCm39) D998V probably benign Het
Nrk T A X: 137,896,678 (GRCm39) I1265N probably damaging Het
Ntn5 A G 7: 45,340,830 (GRCm39) probably benign Het
Or11g27 A G 14: 50,771,307 (GRCm39) N146S probably benign Het
Or5w20 A T 2: 87,727,243 (GRCm39) R233S possibly damaging Het
Or6s1 T G 14: 51,308,766 (GRCm39) E28A probably benign Het
Plch2 T C 4: 155,127,595 (GRCm39) probably benign Het
Porcn C T X: 8,067,901 (GRCm39) V233I probably benign Het
Ppp2r2a T C 14: 67,276,361 (GRCm39) K48R probably benign Het
Ppp4r3c1 G A X: 88,975,129 (GRCm39) T356I probably benign Het
Rccd1 A T 7: 79,968,755 (GRCm39) D268E probably benign Het
Sacs C A 14: 61,427,127 (GRCm39) S178R probably damaging Het
Samd12 T A 15: 53,521,862 (GRCm39) D116V probably damaging Het
Slc12a8 A G 16: 33,428,568 (GRCm39) E46G probably damaging Het
Slc30a10 A T 1: 185,187,438 (GRCm39) I60F possibly damaging Het
Slc6a8 C T X: 72,722,583 (GRCm39) probably benign Het
Sos2 A G 12: 69,664,822 (GRCm39) probably benign Het
Tbc1d31 T C 15: 57,783,338 (GRCm39) V79A probably benign Het
Tmem184c A T 8: 78,331,443 (GRCm39) V102E probably benign Het
Ttc19 G T 11: 62,203,939 (GRCm39) R300I probably damaging Het
Unc5d T A 8: 29,142,855 (GRCm39) I866F probably benign Het
Vmn1r7 A T 6: 57,001,874 (GRCm39) C129S probably benign Het
Vps41 T A 13: 18,975,827 (GRCm39) probably benign Het
Vwa8 C T 14: 79,331,724 (GRCm39) A1275V possibly 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
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