Incidental Mutation 'R3105:Ezh1'
| ID |
263015 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ezh1
|
| Ensembl Gene |
ENSMUSG00000006920 |
| Gene Name |
enhancer of zeste 1 polycomb repressive complex 2 subunit |
| Synonyms |
|
| MMRRC Submission |
040579-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3105 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
101081941-101117268 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 101086468 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tryptophan
at position 575
(C575W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102906
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100417]
[ENSMUST00000103109]
[ENSMUST00000107284]
[ENSMUST00000107285]
|
| AlphaFold |
P70351 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100417
|
| SMART Domains |
Protein: ENSMUSP00000097984
Gene: ENSMUSG00000006920
| 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: ENSMUST00000103109
|
| SMART Domains |
Protein: ENSMUSP00000099398
Gene: ENSMUSG00000017167
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
FA58C
|
25 |
169 |
7.49e-36 |
SMART |
|
LamG
|
196 |
333 |
2.86e-32 |
SMART |
|
LamG
|
382 |
516 |
3.49e-27 |
SMART |
|
EGF
|
544 |
578 |
2.28e0 |
SMART |
|
Blast:FBG
|
580 |
777 |
1e-133 |
BLAST |
|
LamG
|
806 |
940 |
1.95e-25 |
SMART |
|
EGF_like
|
961 |
997 |
6.03e1 |
SMART |
|
low complexity region
|
1032 |
1044 |
N/A |
INTRINSIC |
|
low complexity region
|
1047 |
1058 |
N/A |
INTRINSIC |
|
low complexity region
|
1063 |
1078 |
N/A |
INTRINSIC |
|
LamG
|
1081 |
1219 |
2.59e-30 |
SMART |
|
4.1m
|
1305 |
1323 |
7.85e-7 |
SMART |
|
low complexity region
|
1333 |
1370 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107284
AA Change: C572W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102905
Gene: ENSMUSG00000006920
AA Change: C572W
| 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: C575W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102906
Gene: ENSMUSG00000006920
AA Change: C575W
| 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
|
| Meta Mutation Damage Score |
0.9679 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (44/44) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb6 |
T |
C |
1: 75,151,687 (GRCm39) |
|
probably benign |
Het |
| Abhd13 |
T |
C |
8: 10,037,931 (GRCm39) |
V176A |
probably benign |
Het |
| Alpk2 |
A |
T |
18: 65,483,281 (GRCm39) |
S242R |
possibly damaging |
Het |
| Baz2a |
AGCGGCGGTACTTGCGGG |
AG |
10: 127,960,946 (GRCm39) |
|
probably null |
Het |
| Ccdc163 |
C |
A |
4: 116,566,697 (GRCm39) |
Q58K |
probably benign |
Het |
| Ccdc191 |
T |
C |
16: 43,751,573 (GRCm39) |
F301S |
probably damaging |
Het |
| Clca4b |
A |
T |
3: 144,622,432 (GRCm39) |
N544K |
probably benign |
Het |
| Col6a3 |
T |
C |
1: 90,744,024 (GRCm39) |
R515G |
probably damaging |
Het |
| Dgkg |
T |
A |
16: 22,394,091 (GRCm39) |
T321S |
probably damaging |
Het |
| Dip2b |
C |
A |
15: 100,040,018 (GRCm39) |
C138* |
probably null |
Het |
| Dnaja2 |
G |
A |
8: 86,281,857 (GRCm39) |
T7M |
probably damaging |
Het |
| F11 |
T |
A |
8: 45,698,754 (GRCm39) |
Q463H |
probably damaging |
Het |
| Gfpt1 |
A |
G |
6: 87,034,628 (GRCm39) |
D142G |
probably benign |
Het |
| Gm8730 |
T |
C |
8: 103,591,895 (GRCm39) |
|
noncoding transcript |
Het |
| Grm1 |
A |
G |
10: 10,955,601 (GRCm39) |
S228P |
probably benign |
Het |
| Hnf4g |
T |
G |
3: 3,717,916 (GRCm39) |
S388R |
probably benign |
Het |
| Il1rap |
A |
G |
16: 26,541,502 (GRCm39) |
E581G |
probably benign |
Het |
| Lrp4 |
T |
C |
2: 91,331,394 (GRCm39) |
Y1585H |
probably benign |
Het |
| Magi3 |
A |
G |
3: 103,958,636 (GRCm39) |
V483A |
probably damaging |
Het |
| Map2 |
T |
C |
1: 66,472,756 (GRCm39) |
|
probably null |
Het |
| Or4a78 |
T |
C |
2: 89,497,302 (GRCm39) |
I309M |
probably benign |
Het |
| Osgep |
T |
C |
14: 51,154,286 (GRCm39) |
T225A |
probably benign |
Het |
| Otof |
A |
G |
5: 30,539,145 (GRCm39) |
Y1090H |
probably benign |
Het |
| Pgr |
T |
A |
9: 8,958,397 (GRCm39) |
F801L |
probably benign |
Het |
| Pomk |
A |
C |
8: 26,472,942 (GRCm39) |
L337R |
probably damaging |
Het |
| Prune2 |
T |
A |
19: 17,096,520 (GRCm39) |
S675T |
probably damaging |
Het |
| Rnpepl1 |
C |
T |
1: 92,844,102 (GRCm39) |
L278F |
probably damaging |
Het |
| Sars1 |
C |
T |
3: 108,336,621 (GRCm39) |
R302H |
probably damaging |
Het |
| Sbspon |
T |
C |
1: 15,962,806 (GRCm39) |
E24G |
probably benign |
Het |
| Sec16a |
G |
A |
2: 26,328,433 (GRCm39) |
P1194L |
probably benign |
Het |
| Sfmbt1 |
G |
A |
14: 30,539,753 (GRCm39) |
C847Y |
probably damaging |
Het |
| Slc22a29 |
T |
C |
19: 8,147,337 (GRCm39) |
T342A |
probably benign |
Het |
| Spaca1 |
G |
A |
4: 34,028,468 (GRCm39) |
T283M |
probably damaging |
Het |
| Stradb |
C |
A |
1: 59,031,450 (GRCm39) |
H212Q |
possibly damaging |
Het |
| Taf6l |
C |
T |
19: 8,756,219 (GRCm39) |
S208N |
probably damaging |
Het |
| Tkfc |
G |
T |
19: 10,574,357 (GRCm39) |
C198* |
probably null |
Het |
| Tm4sf4 |
C |
T |
3: 57,345,043 (GRCm39) |
R150C |
possibly damaging |
Het |
| Tmem212 |
T |
C |
3: 27,939,019 (GRCm39) |
S156G |
probably damaging |
Het |
| Tmigd1 |
A |
G |
11: 76,801,124 (GRCm39) |
T204A |
possibly damaging |
Het |
| Tsga10 |
G |
A |
1: 37,840,872 (GRCm39) |
L445F |
probably damaging |
Het |
| Urb1 |
C |
T |
16: 90,592,331 (GRCm39) |
V310I |
probably damaging |
Het |
| Vmn1r205 |
T |
C |
13: 22,777,109 (GRCm39) |
|
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGAACAATGACACCTGGTAAC -3'
(R):5'- GGCACTTCCTTGTCTTGAGG -3'
Sequencing Primer
(F):5'- GGTAACATTTCCTCCTTCCCACTG -3'
(R):5'- CACTTCCTTGTCTTGAGGGAAAAGC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation