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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |