Incidental Mutation 'R6392:Ezh1'
| ID |
515820 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ezh1
|
| Ensembl Gene |
ENSMUSG00000006920 |
| Gene Name |
enhancer of zeste 1 polycomb repressive complex 2 subunit |
| Synonyms |
|
| MMRRC Submission |
044541-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6392 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
101081941-101117268 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 101094630 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 387
(D387E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102905
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100417]
[ENSMUST00000107284]
[ENSMUST00000107285]
|
| AlphaFold |
P70351 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100417
AA Change: D387E
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000097984
Gene: ENSMUSG00000006920
AA Change: D387E
| 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: D387E
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000102905
Gene: ENSMUSG00000006920
AA Change: D387E
| 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: D390E
PolyPhen 2
Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000102906
Gene: ENSMUSG00000006920
AA Change: D390E
| 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: ENSMUST00000138835
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146884
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154211
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 96.1%
|
| Validation Efficiency |
96% (47/49) |
| 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 |
|---|
| Aars2 |
A |
T |
17: 45,825,526 (GRCm39) |
I330F |
probably damaging |
Het |
| Abcc9 |
A |
G |
6: 142,627,825 (GRCm39) |
S402P |
probably damaging |
Het |
| Ada |
A |
G |
2: 163,570,137 (GRCm39) |
L292P |
probably damaging |
Het |
| Adam34l |
A |
T |
8: 44,079,038 (GRCm39) |
N395K |
probably benign |
Het |
| Adra1d |
T |
C |
2: 131,403,529 (GRCm39) |
D187G |
probably damaging |
Het |
| AI467606 |
C |
A |
7: 126,691,717 (GRCm39) |
Y97* |
probably null |
Het |
| Arid2 |
A |
G |
15: 96,259,483 (GRCm39) |
E245G |
probably damaging |
Het |
| Ccdc78 |
C |
G |
17: 26,007,148 (GRCm39) |
Q213E |
probably damaging |
Het |
| Cntnap1 |
G |
T |
11: 101,077,472 (GRCm39) |
D1045Y |
probably damaging |
Het |
| Ctcf |
T |
C |
8: 106,390,765 (GRCm39) |
V124A |
probably damaging |
Het |
| Cutc |
T |
C |
19: 43,748,489 (GRCm39) |
S129P |
possibly damaging |
Het |
| Dhx36 |
T |
C |
3: 62,401,790 (GRCm39) |
I308V |
probably benign |
Het |
| Disp2 |
T |
C |
2: 118,621,230 (GRCm39) |
V654A |
probably damaging |
Het |
| Esm1 |
G |
A |
13: 113,346,283 (GRCm39) |
|
probably benign |
Het |
| Extl1 |
C |
T |
4: 134,091,945 (GRCm39) |
V303I |
probably benign |
Het |
| Fbf1 |
T |
A |
11: 116,043,775 (GRCm39) |
|
probably null |
Het |
| Fbxl12 |
T |
C |
9: 20,550,472 (GRCm39) |
H84R |
probably damaging |
Het |
| Fbxo6 |
C |
T |
4: 148,230,462 (GRCm39) |
V267I |
probably benign |
Het |
| Helz |
G |
T |
11: 107,493,167 (GRCm39) |
A197S |
possibly damaging |
Het |
| Ikbke |
T |
C |
1: 131,202,883 (GRCm39) |
|
probably null |
Het |
| Kbtbd13 |
A |
G |
9: 65,297,619 (GRCm39) |
F439S |
possibly damaging |
Het |
| Kif7 |
G |
A |
7: 79,351,934 (GRCm39) |
R943W |
probably damaging |
Het |
| Lrp12 |
C |
T |
15: 39,735,415 (GRCm39) |
C839Y |
probably damaging |
Het |
| Matr3 |
A |
G |
18: 35,717,894 (GRCm39) |
D364G |
probably benign |
Het |
| Ncam1 |
T |
C |
9: 49,434,875 (GRCm39) |
K624E |
probably damaging |
Het |
| Nup205 |
T |
C |
6: 35,166,820 (GRCm39) |
S280P |
possibly damaging |
Het |
| Or4a66 |
A |
T |
2: 88,531,011 (GRCm39) |
Y221N |
probably damaging |
Het |
| Or52a33 |
A |
C |
7: 103,288,889 (GRCm39) |
C153G |
probably benign |
Het |
| Pira2 |
A |
T |
7: 3,846,901 (GRCm39) |
S214T |
possibly damaging |
Het |
| Prss3b |
T |
C |
6: 41,009,306 (GRCm39) |
Y176C |
probably damaging |
Het |
| Ptpn4 |
T |
A |
1: 119,700,853 (GRCm39) |
I30F |
probably benign |
Het |
| Rnf144a |
T |
C |
12: 26,360,779 (GRCm39) |
I253V |
possibly damaging |
Het |
| Sh3pxd2b |
T |
A |
11: 32,373,302 (GRCm39) |
L823Q |
possibly damaging |
Het |
| Sh3rf3 |
A |
T |
10: 58,842,898 (GRCm39) |
D288V |
probably damaging |
Het |
| Shprh |
T |
A |
10: 11,054,485 (GRCm39) |
Y1031* |
probably null |
Het |
| Sidt1 |
T |
C |
16: 44,111,657 (GRCm39) |
T173A |
possibly damaging |
Het |
| Smc1b |
C |
T |
15: 84,976,232 (GRCm39) |
R825Q |
probably benign |
Het |
| Ssh3 |
C |
T |
19: 4,315,399 (GRCm39) |
R309H |
probably benign |
Het |
| Tagap |
G |
T |
17: 8,152,893 (GRCm39) |
G693W |
probably damaging |
Het |
| Tango2 |
T |
A |
16: 18,119,403 (GRCm39) |
I143F |
probably damaging |
Het |
| Thsd7a |
T |
C |
6: 12,468,928 (GRCm39) |
H550R |
probably damaging |
Het |
| Tmem131 |
T |
A |
1: 36,920,423 (GRCm39) |
Q92H |
probably benign |
Het |
| Tnfrsf21 |
T |
C |
17: 43,327,979 (GRCm39) |
L31P |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,730,487 (GRCm39) |
|
probably benign |
Het |
| Ubash3b |
T |
C |
9: 40,926,268 (GRCm39) |
D493G |
probably damaging |
Het |
| Unc13a |
C |
T |
8: 72,090,453 (GRCm39) |
G1411D |
possibly damaging |
Het |
| Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
| Zfc3h1 |
A |
T |
10: 115,237,653 (GRCm39) |
R477S |
probably damaging |
Het |
| Zfp87 |
C |
T |
13: 67,664,986 (GRCm39) |
R492K |
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 |
|
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 |
|
|
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'- AGTTTGCTGGTACCCCTATGTC -3'
(R):5'- TCAGAGACACTGCCTATCCCTG -3'
Sequencing Primer
(F):5'- ATGCAAACGTTAGCTGTGC -3'
(R):5'- AGACACTGCCTATCCCTGTTTCTTC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation