Incidental Mutation 'IGL02028:Ezh1'
ID |
184286 |
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 # |
IGL02028
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi2 |
A |
G |
1: 60,473,442 (GRCm39) |
Y53C |
probably damaging |
Het |
Acacb |
T |
A |
5: 114,304,076 (GRCm39) |
D166E |
probably damaging |
Het |
Akap8l |
T |
C |
17: 32,557,495 (GRCm39) |
|
probably null |
Het |
Arl6ip5 |
A |
G |
6: 97,206,611 (GRCm39) |
Y97C |
probably damaging |
Het |
Atad5 |
T |
A |
11: 80,024,936 (GRCm39) |
S1772R |
probably benign |
Het |
Ccdc106 |
A |
G |
7: 5,062,645 (GRCm39) |
Q155R |
probably damaging |
Het |
Ccdc33 |
T |
C |
9: 57,983,861 (GRCm39) |
N446S |
probably benign |
Het |
Cdh2 |
T |
C |
18: 16,783,477 (GRCm39) |
D84G |
probably benign |
Het |
Cntn6 |
A |
G |
6: 104,836,387 (GRCm39) |
K918E |
probably damaging |
Het |
Dock6 |
T |
C |
9: 21,750,122 (GRCm39) |
D521G |
probably damaging |
Het |
Dync2i1 |
C |
A |
12: 116,219,681 (GRCm39) |
R87L |
probably benign |
Het |
Etv6 |
C |
T |
6: 134,225,696 (GRCm39) |
A309V |
probably benign |
Het |
Figla |
T |
C |
6: 85,994,345 (GRCm39) |
L40P |
probably damaging |
Het |
Gabra4 |
T |
A |
5: 71,790,939 (GRCm39) |
Q301L |
probably damaging |
Het |
Glt1d1 |
G |
A |
5: 127,783,984 (GRCm39) |
V313M |
possibly damaging |
Het |
Gm28778 |
T |
A |
1: 53,357,120 (GRCm39) |
I94K |
possibly damaging |
Het |
Gm4847 |
T |
C |
1: 166,469,765 (GRCm39) |
K103E |
probably benign |
Het |
Gne |
A |
G |
4: 44,066,852 (GRCm39) |
S23P |
probably damaging |
Het |
Hipk2 |
A |
G |
6: 38,795,691 (GRCm39) |
C186R |
possibly damaging |
Het |
Lrp1b |
C |
T |
2: 41,401,464 (GRCm39) |
V283I |
probably damaging |
Het |
Mcm10 |
A |
T |
2: 5,013,511 (GRCm39) |
D40E |
possibly damaging |
Het |
Morc2b |
T |
A |
17: 33,356,387 (GRCm39) |
I462F |
possibly damaging |
Het |
Myh1 |
T |
A |
11: 67,101,441 (GRCm39) |
I711N |
probably damaging |
Het |
Oit3 |
A |
G |
10: 59,274,477 (GRCm39) |
F108L |
probably damaging |
Het |
Or4f4b |
T |
C |
2: 111,313,816 (GRCm39) |
F14L |
probably benign |
Het |
Or8b49 |
T |
A |
9: 38,505,715 (GRCm39) |
L66* |
probably null |
Het |
Polr1g |
T |
C |
7: 19,091,003 (GRCm39) |
K368R |
probably damaging |
Het |
Rbm19 |
A |
G |
5: 120,258,301 (GRCm39) |
D172G |
probably damaging |
Het |
Ribc2 |
A |
G |
15: 85,027,536 (GRCm39) |
D339G |
possibly damaging |
Het |
Rras2 |
C |
A |
7: 113,659,597 (GRCm39) |
V56L |
probably benign |
Het |
Scn2a |
A |
G |
2: 65,594,002 (GRCm39) |
E1617G |
probably damaging |
Het |
Slc13a1 |
T |
A |
6: 24,118,030 (GRCm39) |
M236L |
probably benign |
Het |
Snrnp27 |
C |
T |
6: 86,659,955 (GRCm39) |
R13H |
unknown |
Het |
Srgap2 |
T |
C |
1: 131,224,173 (GRCm39) |
K92E |
probably damaging |
Het |
Suco |
T |
C |
1: 161,684,428 (GRCm39) |
K231E |
possibly damaging |
Het |
Tll2 |
C |
A |
19: 41,087,088 (GRCm39) |
E588* |
probably null |
Het |
Tmem215 |
A |
T |
4: 40,473,940 (GRCm39) |
I6L |
possibly damaging |
Het |
Tnc |
A |
C |
4: 63,884,909 (GRCm39) |
|
probably benign |
Het |
Tob1 |
G |
A |
11: 94,105,052 (GRCm39) |
G196D |
probably benign |
Het |
Ubtfl1 |
T |
A |
9: 18,320,849 (GRCm39) |
Y126N |
possibly damaging |
Het |
Uck1 |
G |
T |
2: 32,148,149 (GRCm39) |
Q192K |
probably damaging |
Het |
Vdac3-ps1 |
A |
G |
13: 18,205,469 (GRCm39) |
|
noncoding transcript |
Het |
Vmn1r88 |
C |
T |
7: 12,911,719 (GRCm39) |
S25L |
probably benign |
Het |
Vmn2r109 |
T |
G |
17: 20,761,342 (GRCm39) |
I672L |
probably benign |
Het |
Vmn2r23 |
T |
C |
6: 123,718,819 (GRCm39) |
F724S |
probably damaging |
Het |
Vmn2r54 |
A |
T |
7: 12,366,088 (GRCm39) |
F282Y |
probably damaging |
Het |
Vmn2r82 |
A |
T |
10: 79,215,057 (GRCm39) |
I347F |
probably benign |
Het |
Wasf2 |
G |
A |
4: 132,923,112 (GRCm39) |
R474H |
probably damaging |
Het |
Zmym5 |
T |
C |
14: 57,041,617 (GRCm39) |
H162R |
possibly damaging |
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 |
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 |