Incidental Mutation 'IGL02445:Ezh1'
ID |
293555 |
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 # |
IGL02445
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
101081941-101117268 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 101101513 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 175
(V175G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102905
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100417]
[ENSMUST00000107284]
[ENSMUST00000107285]
|
AlphaFold |
P70351 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100417
AA Change: V175G
PolyPhen 2
Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000097984 Gene: ENSMUSG00000006920 AA Change: V175G
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 |
possibly damaging
Transcript: ENSMUST00000107284
AA Change: V175G
PolyPhen 2
Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000102905 Gene: ENSMUSG00000006920 AA Change: V175G
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: V178G
PolyPhen 2
Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000102906 Gene: ENSMUSG00000006920 AA Change: V178G
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: 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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
C |
T |
5: 114,383,198 (GRCm39) |
T2127M |
probably damaging |
Het |
Acp2 |
A |
G |
2: 91,036,606 (GRCm39) |
D175G |
possibly damaging |
Het |
Adamts12 |
T |
C |
15: 11,286,798 (GRCm39) |
L801P |
probably damaging |
Het |
Adcy10 |
T |
G |
1: 165,398,313 (GRCm39) |
V1470G |
possibly damaging |
Het |
Ankar |
T |
G |
1: 72,705,524 (GRCm39) |
K829Q |
probably benign |
Het |
Arhgef10l |
T |
C |
4: 140,274,318 (GRCm39) |
Y531C |
probably benign |
Het |
Atm |
T |
C |
9: 53,365,630 (GRCm39) |
I2590V |
probably benign |
Het |
Brme1 |
T |
A |
8: 84,886,137 (GRCm39) |
M31K |
probably benign |
Het |
Cblb |
T |
C |
16: 51,986,668 (GRCm39) |
L485P |
probably damaging |
Het |
Col4a1 |
T |
C |
8: 11,283,911 (GRCm39) |
|
probably benign |
Het |
Coprs |
T |
C |
8: 13,935,797 (GRCm39) |
K74R |
possibly damaging |
Het |
Cul3 |
A |
T |
1: 80,281,886 (GRCm39) |
L31M |
possibly damaging |
Het |
Cyp3a59 |
C |
A |
5: 146,033,463 (GRCm39) |
Q200K |
probably benign |
Het |
Ddx19b |
C |
A |
8: 111,735,456 (GRCm39) |
V402L |
probably damaging |
Het |
Disc1 |
T |
A |
8: 125,875,142 (GRCm39) |
|
probably benign |
Het |
Dsg4 |
C |
T |
18: 20,579,307 (GRCm39) |
|
probably benign |
Het |
Dspp |
A |
C |
5: 104,324,963 (GRCm39) |
Y442S |
probably damaging |
Het |
Dtl |
C |
T |
1: 191,290,172 (GRCm39) |
|
probably null |
Het |
Hepacam2 |
C |
T |
6: 3,483,481 (GRCm39) |
G100D |
probably damaging |
Het |
Herc1 |
T |
A |
9: 66,340,764 (GRCm39) |
H1704Q |
possibly damaging |
Het |
Itprid2 |
G |
A |
2: 79,487,842 (GRCm39) |
E642K |
probably damaging |
Het |
Kif26a |
T |
C |
12: 112,140,177 (GRCm39) |
S469P |
probably damaging |
Het |
Lefty1 |
T |
C |
1: 180,765,242 (GRCm39) |
M270T |
probably benign |
Het |
Nap1l3 |
A |
T |
X: 121,305,752 (GRCm39) |
V322D |
probably damaging |
Het |
Ndufv2 |
A |
G |
17: 66,387,889 (GRCm39) |
|
probably benign |
Het |
Or14j5 |
A |
T |
17: 38,162,008 (GRCm39) |
H175L |
probably damaging |
Het |
Or4p18 |
G |
A |
2: 88,232,456 (GRCm39) |
T274I |
possibly damaging |
Het |
Or8b55 |
T |
C |
9: 38,726,901 (GRCm39) |
I34T |
possibly damaging |
Het |
Otol1 |
A |
T |
3: 69,935,367 (GRCm39) |
D453V |
probably damaging |
Het |
Papolb |
G |
A |
5: 142,514,480 (GRCm39) |
H388Y |
probably benign |
Het |
Ppp1r10 |
A |
G |
17: 36,237,094 (GRCm39) |
E128G |
probably damaging |
Het |
Prss12 |
T |
A |
3: 123,280,669 (GRCm39) |
D451E |
probably damaging |
Het |
Psmc1 |
T |
C |
12: 100,081,087 (GRCm39) |
|
probably benign |
Het |
Pygo1 |
T |
A |
9: 72,833,222 (GRCm39) |
I10N |
probably benign |
Het |
Rab31 |
C |
T |
17: 66,028,998 (GRCm39) |
|
probably null |
Het |
Ret |
G |
A |
6: 118,158,860 (GRCm39) |
T184I |
probably damaging |
Het |
Rhd |
A |
T |
4: 134,611,481 (GRCm39) |
M214L |
possibly damaging |
Het |
Ripor3 |
C |
A |
2: 167,834,682 (GRCm39) |
|
probably benign |
Het |
Sec16a |
A |
G |
2: 26,312,052 (GRCm39) |
L2036P |
probably benign |
Het |
Slc26a3 |
C |
A |
12: 31,507,051 (GRCm39) |
D335E |
possibly damaging |
Het |
Taf6 |
A |
G |
5: 138,182,756 (GRCm39) |
|
probably benign |
Het |
Tnk2 |
T |
C |
16: 32,494,408 (GRCm39) |
V442A |
probably benign |
Het |
Virma |
A |
G |
4: 11,527,029 (GRCm39) |
M1143V |
probably damaging |
Het |
Vmn2r77 |
A |
T |
7: 86,452,848 (GRCm39) |
R522* |
probably null |
Het |
Vmn2r-ps129 |
A |
G |
17: 23,227,393 (GRCm39) |
|
noncoding transcript |
Het |
Zfp473 |
A |
G |
7: 44,383,107 (GRCm39) |
C408R |
probably 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 |
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 |
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 |
2015-04-16 |