Incidental Mutation 'IGL02882:Ezh1'
ID |
362853 |
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 # |
IGL02882
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
101081941-101117268 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 101094115 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 459
(I459T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102906
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100417]
[ENSMUST00000107284]
[ENSMUST00000107285]
|
AlphaFold |
P70351 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000100417
AA Change: I456T
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000097984 Gene: ENSMUSG00000006920 AA Change: I456T
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 benign
Transcript: ENSMUST00000107284
AA Change: I456T
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000102905 Gene: ENSMUSG00000006920 AA Change: I456T
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 benign
Transcript: ENSMUST00000107285
AA Change: I459T
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000102906 Gene: ENSMUSG00000006920 AA Change: I459T
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: ENSMUST00000138835
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146884
|
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg4 |
A |
T |
9: 44,188,786 (GRCm39) |
L469* |
probably null |
Het |
Calr3 |
T |
A |
8: 73,188,665 (GRCm39) |
Y46F |
probably damaging |
Het |
Clcn4 |
A |
G |
7: 7,293,464 (GRCm39) |
C491R |
probably damaging |
Het |
Col6a5 |
G |
T |
9: 105,811,520 (GRCm39) |
D666E |
unknown |
Het |
D130052B06Rik |
G |
A |
11: 33,573,780 (GRCm39) |
V126M |
probably damaging |
Het |
Ddx27 |
A |
G |
2: 166,869,833 (GRCm39) |
I389M |
possibly damaging |
Het |
Dgka |
T |
C |
10: 128,569,253 (GRCm39) |
I160V |
possibly damaging |
Het |
Enpp6 |
T |
C |
8: 47,483,567 (GRCm39) |
S120P |
probably damaging |
Het |
Fam91a1 |
A |
G |
15: 58,324,910 (GRCm39) |
|
probably benign |
Het |
Foxn2 |
T |
C |
17: 88,770,375 (GRCm39) |
L74P |
probably damaging |
Het |
Fscn2 |
T |
C |
11: 120,253,325 (GRCm39) |
V264A |
probably benign |
Het |
Gmeb2 |
G |
A |
2: 180,907,676 (GRCm39) |
T54I |
probably damaging |
Het |
Hmcn2 |
A |
T |
2: 31,303,379 (GRCm39) |
K3007* |
probably null |
Het |
Ice1 |
A |
T |
13: 70,772,593 (GRCm39) |
|
probably benign |
Het |
Lgi1 |
A |
G |
19: 38,272,453 (GRCm39) |
D84G |
probably benign |
Het |
Mier2 |
T |
C |
10: 79,383,555 (GRCm39) |
I196V |
probably damaging |
Het |
Nipal2 |
T |
C |
15: 34,600,223 (GRCm39) |
Y198C |
probably damaging |
Het |
Npas2 |
A |
C |
1: 39,352,077 (GRCm39) |
S176R |
probably benign |
Het |
Or8b50 |
A |
T |
9: 38,518,234 (GRCm39) |
I158F |
probably benign |
Het |
Pam |
A |
C |
1: 97,768,092 (GRCm39) |
C713G |
probably damaging |
Het |
Pcdh17 |
C |
A |
14: 84,684,101 (GRCm39) |
D189E |
probably damaging |
Het |
Pcdhb8 |
T |
A |
18: 37,489,276 (GRCm39) |
I318N |
possibly damaging |
Het |
Pcyt2 |
A |
G |
11: 120,502,233 (GRCm39) |
S300P |
possibly damaging |
Het |
Pkdrej |
A |
G |
15: 85,701,497 (GRCm39) |
S1480P |
probably damaging |
Het |
Plekhd1 |
G |
A |
12: 80,765,781 (GRCm39) |
|
probably null |
Het |
Plxna2 |
A |
T |
1: 194,444,878 (GRCm39) |
S757C |
probably damaging |
Het |
Prkdc |
A |
T |
16: 15,469,383 (GRCm39) |
K163* |
probably null |
Het |
Serpina3f |
A |
T |
12: 104,183,263 (GRCm39) |
T42S |
probably damaging |
Het |
Sesn2 |
T |
C |
4: 132,221,104 (GRCm39) |
N456D |
probably benign |
Het |
Tas2r105 |
A |
T |
6: 131,664,143 (GRCm39) |
L95Q |
possibly damaging |
Het |
Tln1 |
A |
G |
4: 43,539,522 (GRCm39) |
V1600A |
probably benign |
Het |
Zfp764l1 |
A |
G |
7: 126,991,424 (GRCm39) |
Y188H |
probably damaging |
Het |
Zfp808 |
A |
G |
13: 62,320,994 (GRCm39) |
K741R |
probably benign |
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 |
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 |
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 |
2015-12-18 |