Incidental Mutation 'IGL03493:Ezh1'
| ID |
490726 |
| 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 # |
IGL03493
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
101081941-101117268 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101094617 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 392
(T392A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102905
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100417]
[ENSMUST00000107284]
[ENSMUST00000107285]
|
| AlphaFold |
P70351 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100417
AA Change: T392A
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000097984
Gene: ENSMUSG00000006920
AA Change: T392A
| 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: T392A
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000102905
Gene: ENSMUSG00000006920
AA Change: T392A
| 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: T395A
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000102906
Gene: ENSMUSG00000006920
AA Change: T395A
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldoart1 |
G |
A |
4: 72,769,884 (GRCm39) |
T253I |
probably damaging |
Het |
| Ampd2 |
T |
C |
3: 107,982,674 (GRCm39) |
E694G |
probably damaging |
Het |
| Atcay |
C |
A |
10: 81,046,407 (GRCm39) |
E306* |
probably null |
Het |
| Atp13a5 |
G |
T |
16: 29,116,342 (GRCm39) |
D546E |
probably benign |
Het |
| C2cd2 |
T |
C |
16: 97,682,861 (GRCm39) |
D125G |
probably damaging |
Het |
| Col23a1 |
T |
C |
11: 51,455,632 (GRCm39) |
|
probably null |
Het |
| Col9a1 |
T |
A |
1: 24,260,651 (GRCm39) |
|
probably benign |
Het |
| Cyp4a31 |
T |
A |
4: 115,427,952 (GRCm39) |
|
probably null |
Het |
| Dnah11 |
G |
A |
12: 117,976,533 (GRCm39) |
R2708C |
probably benign |
Het |
| Dzip3 |
T |
C |
16: 48,772,059 (GRCm39) |
I537V |
probably benign |
Het |
| Hsd17b14 |
A |
T |
7: 45,205,515 (GRCm39) |
D42V |
probably damaging |
Het |
| Hsf2 |
A |
T |
10: 57,381,462 (GRCm39) |
I294F |
probably damaging |
Het |
| Ibtk |
G |
T |
9: 85,600,972 (GRCm39) |
S797R |
probably benign |
Het |
| Kif20b |
T |
A |
19: 34,936,950 (GRCm39) |
C183* |
probably null |
Het |
| Lnpep |
G |
T |
17: 17,799,433 (GRCm39) |
A74E |
probably damaging |
Het |
| Map4k1 |
A |
T |
7: 28,683,576 (GRCm39) |
|
probably benign |
Het |
| Matn1 |
A |
G |
4: 130,677,309 (GRCm39) |
R173G |
probably benign |
Het |
| Nyap1 |
A |
G |
5: 137,733,278 (GRCm39) |
I585T |
probably damaging |
Het |
| Or13a27 |
A |
T |
7: 139,925,066 (GRCm39) |
Y279N |
probably damaging |
Het |
| Or52e7 |
A |
G |
7: 104,685,151 (GRCm39) |
T249A |
probably damaging |
Het |
| Or5d39 |
G |
A |
2: 87,980,280 (GRCm39) |
P28S |
probably benign |
Het |
| Phactr2 |
A |
G |
10: 13,133,413 (GRCm39) |
V190A |
probably benign |
Het |
| Podnl1 |
G |
A |
8: 84,858,818 (GRCm39) |
V548I |
probably benign |
Het |
| Rad51c |
A |
T |
11: 87,288,579 (GRCm39) |
H201Q |
probably benign |
Het |
| Sec63 |
C |
A |
10: 42,704,937 (GRCm39) |
D730E |
probably benign |
Het |
| Smarcc2 |
A |
G |
10: 128,297,226 (GRCm39) |
I39M |
probably damaging |
Het |
| Trav2 |
A |
G |
14: 52,804,745 (GRCm39) |
|
probably benign |
Het |
| Ugt3a1 |
A |
G |
15: 9,361,569 (GRCm39) |
Y115C |
probably damaging |
Het |
| Zfp955b |
T |
G |
17: 33,521,519 (GRCm39) |
H329Q |
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 |
|
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 |
|
|
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 |
2017-10-20 |
Incidental Mutation