Incidental Mutation 'R9531:Ezh1'
| ID |
719491 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ezh1
|
| Ensembl Gene |
ENSMUSG00000006920 |
| Gene Name |
enhancer of zeste 1 polycomb repressive complex 2 subunit |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9531 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
101081941-101117268 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 101104657 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 130
(T130M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102906
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100417]
[ENSMUST00000107284]
[ENSMUST00000107285]
|
| AlphaFold |
P70351 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100417
AA Change: T127M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097984
Gene: ENSMUSG00000006920
AA Change: T127M
| 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: T127M
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000102905
Gene: ENSMUSG00000006920
AA Change: T127M
| 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: T130M
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102906
Gene: ENSMUSG00000006920
AA Change: T130M
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr2b |
T |
A |
9: 119,260,392 (GRCm39) |
D354E |
probably benign |
Het |
| Atf7ip |
T |
G |
6: 136,537,875 (GRCm39) |
S369R |
probably benign |
Het |
| B4galnt3 |
A |
G |
6: 120,180,802 (GRCm39) |
M977T |
probably damaging |
Het |
| Bin1 |
A |
T |
18: 32,510,539 (GRCm39) |
E27V |
probably benign |
Het |
| Cacna1a |
T |
A |
8: 85,320,801 (GRCm39) |
F1586L |
probably benign |
Het |
| Cdh18 |
T |
A |
15: 23,436,562 (GRCm39) |
S473T |
probably benign |
Het |
| Chd7 |
T |
C |
4: 8,858,489 (GRCm39) |
M151T |
|
Het |
| Dhodh |
T |
C |
8: 110,321,623 (GRCm39) |
T300A |
probably benign |
Het |
| Etl4 |
A |
G |
2: 20,294,818 (GRCm39) |
M1V |
probably null |
Het |
| Fshb |
T |
C |
2: 106,887,692 (GRCm39) |
D109G |
probably benign |
Het |
| Grm5 |
T |
C |
7: 87,780,075 (GRCm39) |
*1204R |
probably null |
Het |
| Itpkb |
T |
G |
1: 180,161,374 (GRCm39) |
V500G |
probably benign |
Het |
| Jakmip1 |
C |
A |
5: 37,332,407 (GRCm39) |
T1029N |
probably damaging |
Het |
| Kdsr |
T |
C |
1: 106,667,063 (GRCm39) |
K231E |
probably damaging |
Het |
| Klb |
G |
A |
5: 65,540,948 (GRCm39) |
V1014I |
|
Het |
| Kng2 |
A |
G |
16: 22,830,907 (GRCm39) |
I134T |
possibly damaging |
Het |
| Lct |
T |
C |
1: 128,235,598 (GRCm39) |
S470G |
probably benign |
Het |
| Med1 |
A |
G |
11: 98,048,321 (GRCm39) |
V825A |
probably damaging |
Het |
| Mfap3l |
C |
G |
8: 61,109,787 (GRCm39) |
D54E |
probably damaging |
Het |
| Mrc2 |
A |
G |
11: 105,240,731 (GRCm39) |
M1474V |
possibly damaging |
Het |
| Mrpl15 |
T |
C |
1: 4,847,757 (GRCm39) |
R181G |
probably benign |
Het |
| Nek4 |
T |
C |
14: 30,692,307 (GRCm39) |
V377A |
probably benign |
Het |
| Or5b121 |
T |
C |
19: 13,507,936 (GRCm39) |
F344L |
probably benign |
Het |
| Pgap3 |
A |
G |
11: 98,288,823 (GRCm39) |
S111P |
probably damaging |
Het |
| Piezo2 |
G |
A |
18: 63,235,236 (GRCm39) |
T787M |
possibly damaging |
Het |
| Pik3c2g |
A |
C |
6: 139,841,926 (GRCm39) |
K777T |
|
Het |
| Pkd1 |
C |
T |
17: 24,792,114 (GRCm39) |
T1267I |
probably damaging |
Het |
| Ros1 |
T |
C |
10: 52,007,063 (GRCm39) |
D835G |
probably damaging |
Het |
| Slc4a10 |
T |
A |
2: 62,099,154 (GRCm39) |
I634N |
probably damaging |
Het |
| Slc8a3 |
A |
T |
12: 81,361,997 (GRCm39) |
I274N |
probably damaging |
Het |
| Steap4 |
A |
G |
5: 8,028,424 (GRCm39) |
D334G |
probably benign |
Het |
| Tbc1d30 |
A |
G |
10: 121,183,105 (GRCm39) |
L111P |
probably damaging |
Het |
| Ttc24 |
A |
G |
3: 87,978,416 (GRCm39) |
S252P |
possibly damaging |
Het |
| Ubr4 |
A |
G |
4: 139,135,217 (GRCm39) |
T850A |
probably benign |
Het |
| Zbbx |
A |
G |
3: 74,985,865 (GRCm39) |
S396P |
probably damaging |
Het |
| Zkscan2 |
A |
T |
7: 123,088,837 (GRCm39) |
I478N |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAATATTCTTTAGCACCCACAGG -3'
(R):5'- GCCATGCTTCTTCGTTACGG -3'
Sequencing Primer
(F):5'- CCACAGGGATGGAAGAGAAC -3'
(R):5'- GGACATACCATTGCTTATGTCAAGG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation