Incidental Mutation 'IGL01896:Ezh1'
| ID |
179384 |
| 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 # |
IGL01896
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
101081941-101117268 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 101104581 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 155
(N155K)
|
| 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: N152K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000097984
Gene: ENSMUSG00000006920
AA Change: N152K
| 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: N152K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000102905
Gene: ENSMUSG00000006920
AA Change: N152K
| 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: N155K
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000102906
Gene: ENSMUSG00000006920
AA Change: N155K
| 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: ENSMUST00000151291
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
T |
A |
10: 29,101,154 (GRCm39) |
F509Y |
possibly damaging |
Het |
| Acot11 |
T |
A |
4: 106,628,564 (GRCm39) |
I75F |
probably damaging |
Het |
| Atp1a2 |
T |
A |
1: 172,113,578 (GRCm39) |
N427Y |
probably damaging |
Het |
| Cd19 |
T |
C |
7: 126,013,522 (GRCm39) |
D89G |
possibly damaging |
Het |
| Clca3a1 |
T |
A |
3: 144,721,438 (GRCm39) |
T378S |
possibly damaging |
Het |
| Cltc |
A |
T |
11: 86,615,959 (GRCm39) |
C436S |
probably damaging |
Het |
| Def8 |
G |
A |
8: 124,186,634 (GRCm39) |
V429M |
probably benign |
Het |
| Dnah9 |
A |
T |
11: 66,021,492 (GRCm39) |
D311E |
possibly damaging |
Het |
| Dpy19l4 |
T |
C |
4: 11,267,752 (GRCm39) |
K396R |
possibly damaging |
Het |
| Eif4b |
T |
C |
15: 102,003,721 (GRCm39) |
S597P |
probably benign |
Het |
| Glud1 |
A |
G |
14: 34,041,862 (GRCm39) |
S157G |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gm5600 |
T |
C |
7: 113,307,221 (GRCm39) |
|
noncoding transcript |
Het |
| Hnf4g |
T |
A |
3: 3,716,470 (GRCm39) |
V298E |
probably damaging |
Het |
| Hspd1 |
C |
T |
1: 55,118,268 (GRCm39) |
R446Q |
probably benign |
Het |
| Lyst |
A |
G |
13: 13,810,162 (GRCm39) |
I611V |
probably benign |
Het |
| Map4k3 |
T |
C |
17: 80,921,360 (GRCm39) |
E524G |
probably benign |
Het |
| Mepe |
A |
G |
5: 104,486,135 (GRCm39) |
D425G |
possibly damaging |
Het |
| Myo1a |
G |
T |
10: 127,555,773 (GRCm39) |
V921L |
probably benign |
Het |
| Plxdc1 |
A |
T |
11: 97,815,408 (GRCm39) |
M470K |
probably damaging |
Het |
| Prim1 |
A |
G |
10: 127,858,758 (GRCm39) |
Y222C |
probably damaging |
Het |
| Ptpn13 |
A |
G |
5: 103,649,389 (GRCm39) |
N264S |
possibly damaging |
Het |
| Qrsl1 |
T |
C |
10: 43,752,500 (GRCm39) |
D441G |
probably benign |
Het |
| Samd9l |
G |
T |
6: 3,375,120 (GRCm39) |
Q714K |
probably benign |
Het |
| Scrib |
T |
C |
15: 75,937,967 (GRCm39) |
E293G |
possibly damaging |
Het |
| Slc12a2 |
T |
A |
18: 58,029,380 (GRCm39) |
N255K |
probably benign |
Het |
| Slc6a6 |
T |
C |
6: 91,703,050 (GRCm39) |
I141T |
probably damaging |
Het |
| Slc9a1 |
T |
C |
4: 133,145,370 (GRCm39) |
L485P |
probably damaging |
Het |
| Slfn8 |
A |
T |
11: 82,894,522 (GRCm39) |
Y706N |
probably damaging |
Het |
| Tlr5 |
T |
C |
1: 182,802,444 (GRCm39) |
F583L |
possibly damaging |
Het |
| Tmprss15 |
A |
G |
16: 78,887,678 (GRCm39) |
V43A |
probably benign |
Het |
| Ttc24 |
T |
C |
3: 87,977,720 (GRCm39) |
|
probably null |
Het |
| Ttc7 |
A |
G |
17: 87,666,552 (GRCm39) |
T606A |
probably damaging |
Het |
| Ubap2 |
G |
T |
4: 41,202,362 (GRCm39) |
P689T |
possibly damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Wfdc8 |
A |
T |
2: 164,447,700 (GRCm39) |
M120K |
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 |
|
|
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 |
|
|
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 |
Incidental Mutation