Incidental Mutation 'R1477:Ezh1'
| ID |
164145 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ezh1
|
| Ensembl Gene |
ENSMUSG00000006920 |
| Gene Name |
enhancer of zeste 1 polycomb repressive complex 2 subunit |
| Synonyms |
|
| MMRRC Submission |
039530-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1477 (G1)
|
| Quality Score |
187 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
101081941-101117268 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 101083810 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 733
(D733E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102905
(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: D733E
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000102905
Gene: ENSMUSG00000006920
AA Change: D733E
| 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 |
possibly damaging
Transcript: ENSMUST00000107285
AA Change: D736E
PolyPhen 2
Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000102906
Gene: ENSMUSG00000006920
AA Change: D736E
| 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: ENSMUST00000134622
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138835
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 93.1%
|
| 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 |
|---|
| Acsl5 |
A |
C |
19: 55,279,904 (GRCm39) |
D481A |
probably benign |
Het |
| Adam2 |
A |
C |
14: 66,315,149 (GRCm39) |
L8R |
possibly damaging |
Het |
| Ajm1 |
G |
C |
2: 25,469,765 (GRCm39) |
H49D |
possibly damaging |
Het |
| Arfgef1 |
A |
T |
1: 10,259,509 (GRCm39) |
C619S |
probably damaging |
Het |
| Atm |
A |
G |
9: 53,375,573 (GRCm39) |
I2082T |
probably benign |
Het |
| Cgrrf1 |
A |
G |
14: 47,090,895 (GRCm39) |
I210M |
probably benign |
Het |
| Clec2e |
A |
T |
6: 129,072,163 (GRCm39) |
V72E |
probably benign |
Het |
| Cmtr1 |
T |
C |
17: 29,916,131 (GRCm39) |
V587A |
possibly damaging |
Het |
| Col1a2 |
T |
C |
6: 4,539,673 (GRCm39) |
F1314L |
unknown |
Het |
| Ctbp2 |
T |
C |
7: 132,600,670 (GRCm39) |
E618G |
probably damaging |
Het |
| Dnaaf6rt |
G |
A |
1: 31,262,104 (GRCm39) |
V29M |
probably benign |
Het |
| Dock8 |
A |
T |
19: 25,072,914 (GRCm39) |
Y398F |
possibly damaging |
Het |
| Fbxl6 |
A |
G |
15: 76,421,934 (GRCm39) |
S202P |
probably benign |
Het |
| Fcgbpl1 |
C |
A |
7: 27,856,518 (GRCm39) |
Q2102K |
probably benign |
Het |
| Grid2ip |
G |
A |
5: 143,361,340 (GRCm39) |
A191T |
probably damaging |
Het |
| Helz2 |
T |
C |
2: 180,874,597 (GRCm39) |
S1966G |
probably benign |
Het |
| Ipmk |
A |
G |
10: 71,217,607 (GRCm39) |
K385E |
probably damaging |
Het |
| Itga11 |
G |
A |
9: 62,662,493 (GRCm39) |
V489I |
probably benign |
Het |
| Klhl6 |
T |
C |
16: 19,784,727 (GRCm39) |
K137R |
probably benign |
Het |
| Meis1 |
G |
A |
11: 18,831,665 (GRCm39) |
Q458* |
probably null |
Het |
| Mst1r |
T |
C |
9: 107,785,523 (GRCm39) |
S394P |
probably benign |
Het |
| Mus81 |
G |
T |
19: 5,536,362 (GRCm39) |
H155Q |
probably benign |
Het |
| Neb |
G |
A |
2: 52,154,134 (GRCm39) |
L2326F |
probably damaging |
Het |
| Nf1 |
C |
T |
11: 79,286,685 (GRCm39) |
Q162* |
probably null |
Het |
| Nin |
T |
C |
12: 70,090,958 (GRCm39) |
E819G |
possibly damaging |
Het |
| Nox4 |
T |
C |
7: 86,945,074 (GRCm39) |
V79A |
probably benign |
Het |
| Or11g2 |
A |
T |
14: 50,856,170 (GRCm39) |
I164F |
probably damaging |
Het |
| Or13a28 |
T |
A |
7: 140,218,355 (GRCm39) |
I247N |
possibly damaging |
Het |
| Or5ae2 |
T |
A |
7: 84,506,225 (GRCm39) |
I216N |
probably damaging |
Het |
| Or6d12 |
A |
T |
6: 116,493,626 (GRCm39) |
Y296F |
probably damaging |
Het |
| Peg3 |
T |
A |
7: 6,719,141 (GRCm39) |
D69V |
probably damaging |
Het |
| Pnp2 |
A |
G |
14: 51,196,992 (GRCm39) |
E26G |
probably benign |
Het |
| Pnpt1 |
T |
A |
11: 29,087,102 (GRCm39) |
C154S |
probably benign |
Het |
| Ppp1r26 |
C |
T |
2: 28,342,800 (GRCm39) |
T810I |
probably benign |
Het |
| Ppp2r5b |
A |
G |
19: 6,280,257 (GRCm39) |
S349P |
probably benign |
Het |
| Prdm4 |
C |
T |
10: 85,740,129 (GRCm39) |
V424I |
probably benign |
Het |
| Rraga |
A |
G |
4: 86,494,996 (GRCm39) |
I281V |
probably benign |
Het |
| Sall1 |
T |
C |
8: 89,759,510 (GRCm39) |
E198G |
probably damaging |
Het |
| Serpina9 |
T |
C |
12: 103,963,362 (GRCm39) |
D382G |
possibly damaging |
Het |
| Stt3b |
A |
G |
9: 115,095,260 (GRCm39) |
V257A |
probably damaging |
Het |
| Taf2 |
A |
T |
15: 54,925,568 (GRCm39) |
Y225N |
possibly damaging |
Het |
| Tlr3 |
A |
G |
8: 45,851,202 (GRCm39) |
L41P |
probably damaging |
Het |
| Trappc12 |
A |
T |
12: 28,787,751 (GRCm39) |
V444E |
probably benign |
Het |
| Trim34a |
T |
A |
7: 103,897,287 (GRCm39) |
V117D |
possibly damaging |
Het |
| Ttbk1 |
A |
C |
17: 46,787,725 (GRCm39) |
M259R |
probably benign |
Het |
| Ttll12 |
A |
G |
15: 83,464,303 (GRCm39) |
V509A |
probably damaging |
Het |
| Ush2a |
G |
A |
1: 188,581,273 (GRCm39) |
V3718M |
probably benign |
Het |
| Vps35 |
T |
A |
8: 86,014,429 (GRCm39) |
E73D |
probably damaging |
Het |
| Zfp790 |
C |
T |
7: 29,522,525 (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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAGCGCAGCTTCTTACATCTGAAC -3'
(R):5'- TCACCGCATTGGGATCTTTGCC -3'
Sequencing Primer
(F):5'- CAGTGTGTCCCCTTGGAATAAAG -3'
(R):5'- GGATCTTTGCCAAGAGAGCAATTC -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation