Incidental Mutation 'IGL03303:Ezh1'
ID 416300
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 # IGL03303
Quality Score
Status
Chromosome 11
Chromosomal Location 101081941-101117268 bp(-) (GRCm39)
Type of Mutation splice site (1718 bp from exon)
DNA Base Change (assembly) A to C at 101086497 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000097984 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100417] [ENSMUST00000103109] [ENSMUST00000107284] [ENSMUST00000107285]
AlphaFold P70351
Predicted Effect probably null
Transcript: ENSMUST00000100417
SMART Domains Protein: ENSMUSP00000097984
Gene: ENSMUSG00000006920

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: ENSMUST00000103109
SMART Domains Protein: ENSMUSP00000099398
Gene: ENSMUSG00000017167

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
FA58C 25 169 7.49e-36 SMART
LamG 196 333 2.86e-32 SMART
LamG 382 516 3.49e-27 SMART
EGF 544 578 2.28e0 SMART
Blast:FBG 580 777 1e-133 BLAST
LamG 806 940 1.95e-25 SMART
EGF_like 961 997 6.03e1 SMART
low complexity region 1032 1044 N/A INTRINSIC
low complexity region 1047 1058 N/A INTRINSIC
low complexity region 1063 1078 N/A INTRINSIC
LamG 1081 1219 2.59e-30 SMART
4.1m 1305 1323 7.85e-7 SMART
low complexity region 1333 1370 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107284
AA Change: C563G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102905
Gene: ENSMUSG00000006920
AA Change: C563G

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: C566G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102906
Gene: ENSMUSG00000006920
AA Change: C566G

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T A 6: 121,644,122 (GRCm39) V940E probably damaging Het
Agap1 T A 1: 89,592,874 (GRCm39) V307D probably damaging Het
Amd1 A G 10: 40,166,121 (GRCm39) V286A possibly damaging Het
Bltp1 A G 3: 36,924,226 (GRCm39) E17G possibly damaging Het
Chrne T C 11: 70,505,926 (GRCm39) K453R possibly damaging Het
Ckm T A 7: 19,148,263 (GRCm39) probably benign Het
Ckmt1 A G 2: 121,190,486 (GRCm39) T138A probably benign Het
Cldn4 A G 5: 134,975,103 (GRCm39) V166A possibly damaging Het
Dclre1a T C 19: 56,535,198 (GRCm39) T129A possibly damaging Het
Dlgap2 T A 8: 14,777,812 (GRCm39) D352E probably damaging Het
Dnmt1 A G 9: 20,838,006 (GRCm39) I236T probably benign Het
Enam G T 5: 88,652,450 (GRCm39) V1320L probably benign Het
F13b A T 1: 139,440,774 (GRCm39) D410V possibly damaging Het
Fcrl6 A T 1: 172,425,255 (GRCm39) Y259N probably damaging Het
Fpr-rs7 A T 17: 20,334,001 (GRCm39) F163Y possibly damaging Het
Gpihbp1 C T 15: 75,469,827 (GRCm39) Q181* probably null Het
Htr2b T C 1: 86,027,061 (GRCm39) probably benign Het
Igkv1-35 A G 6: 69,988,635 (GRCm39) I8T probably benign Het
Kcnq2 T C 2: 180,724,182 (GRCm39) T584A probably benign Het
Khdrbs3 A G 15: 68,896,672 (GRCm39) T111A probably benign Het
Krtap29-1 A T 11: 99,869,669 (GRCm39) C71S probably benign Het
Lrrc4c A T 2: 97,459,937 (GRCm39) I188F probably damaging Het
Med1 G T 11: 98,049,178 (GRCm39) N539K probably damaging Het
Mga T A 2: 119,733,933 (GRCm39) D260E probably damaging Het
Mnd1 A G 3: 84,012,244 (GRCm39) I155T probably benign Het
Msrb3 T C 10: 120,620,046 (GRCm39) D91G probably benign Het
Mycbp2 A T 14: 103,485,194 (GRCm39) D1102E probably damaging Het
Nfx1 T A 4: 41,004,323 (GRCm39) probably benign Het
Nrsn2 T C 2: 152,216,131 (GRCm39) D24G possibly damaging Het
Or4c127 A T 2: 89,832,810 (GRCm39) K20I possibly damaging Het
Osmr T A 15: 6,872,289 (GRCm39) R268S probably benign Het
Pelo C A 13: 115,225,197 (GRCm39) V343L probably damaging Het
Rp1 T A 1: 4,415,040 (GRCm39) N2024I probably damaging Het
Rps6ka2 C T 17: 7,495,411 (GRCm39) Q33* probably null Het
Slfn2 G A 11: 82,960,293 (GRCm39) V91I possibly damaging Het
Socs6 G T 18: 88,887,868 (GRCm39) A349E probably damaging Het
Syt2 A G 1: 134,669,649 (GRCm39) N97D probably benign Het
Tas2r123 T A 6: 132,824,401 (GRCm39) H99Q probably damaging Het
Tmc3 A G 7: 83,239,933 (GRCm39) probably benign Het
Ube2s A T 7: 4,813,476 (GRCm39) V35D probably damaging Het
Usp32 A T 11: 84,913,658 (GRCm39) V891D probably damaging Het
Vmn1r169 A T 7: 23,277,434 (GRCm39) E275D probably benign Het
Vps13c A G 9: 67,841,786 (GRCm39) H1936R probably benign Het
Wrap73 C A 4: 154,231,000 (GRCm39) A92E probably damaging Het
Zfhx4 C T 3: 5,468,410 (GRCm39) T2856M probably damaging Het
Zmym1 A T 4: 126,942,927 (GRCm39) I487N 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
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
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 2016-08-02