Incidental Mutation 'R9382:Ezh1'
| ID |
710112 |
| 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 # |
R9382 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
101081941-101117268 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 101094265 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 409
(R409H)
|
| 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: R406H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097984
Gene: ENSMUSG00000006920
AA Change: R406H
| 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: R406H
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102905
Gene: ENSMUSG00000006920
AA Change: R406H
| 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: R409H
PolyPhen 2
Score 0.644 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000102906
Gene: ENSMUSG00000006920
AA Change: R409H
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
G |
A |
11: 109,870,711 (GRCm39) |
S147L |
probably benign |
Het |
| Abraxas1 |
A |
G |
5: 100,957,649 (GRCm39) |
V190A |
probably benign |
Het |
| Aoc1l2 |
A |
T |
6: 48,907,298 (GRCm39) |
K99N |
probably benign |
Het |
| Aox1 |
T |
A |
1: 58,104,501 (GRCm39) |
H559Q |
possibly damaging |
Het |
| Arhgap31 |
C |
T |
16: 38,422,988 (GRCm39) |
G1026D |
probably benign |
Het |
| C1ra |
T |
C |
6: 124,490,819 (GRCm39) |
F71L |
probably benign |
Het |
| C530025M09Rik |
T |
C |
2: 149,672,640 (GRCm39) |
H165R |
unknown |
Het |
| Celf2 |
A |
T |
2: 6,726,404 (GRCm39) |
M43K |
probably damaging |
Het |
| Celsr3 |
T |
C |
9: 108,706,961 (GRCm39) |
V1148A |
possibly damaging |
Het |
| Cmya5 |
T |
G |
13: 93,229,884 (GRCm39) |
K1735Q |
probably benign |
Het |
| Cntln |
A |
C |
4: 84,968,318 (GRCm39) |
M846L |
probably benign |
Het |
| Cntn5 |
T |
C |
9: 9,673,817 (GRCm39) |
T762A |
probably benign |
Het |
| Col11a1 |
T |
A |
3: 113,899,046 (GRCm39) |
L525Q |
unknown |
Het |
| Col12a1 |
T |
C |
9: 79,589,364 (GRCm39) |
T1064A |
probably benign |
Het |
| Cyc1 |
T |
C |
15: 76,229,273 (GRCm39) |
V211A |
possibly damaging |
Het |
| Ddx56 |
A |
G |
11: 6,215,516 (GRCm39) |
S296P |
probably damaging |
Het |
| Deptor |
A |
T |
15: 54,975,798 (GRCm39) |
|
probably benign |
Het |
| Fam228b |
T |
A |
12: 4,798,147 (GRCm39) |
E190V |
probably damaging |
Het |
| Fkbp15 |
A |
T |
4: 62,237,210 (GRCm39) |
L635H |
probably damaging |
Het |
| Frem1 |
G |
A |
4: 82,901,622 (GRCm39) |
L969F |
possibly damaging |
Het |
| Gabrg2 |
T |
C |
11: 41,858,433 (GRCm39) |
R232G |
probably benign |
Het |
| Gpr26 |
G |
A |
7: 131,568,963 (GRCm39) |
D103N |
probably damaging |
Het |
| Grid2ip |
T |
G |
5: 143,361,103 (GRCm39) |
|
probably null |
Het |
| Ints7 |
T |
C |
1: 191,351,793 (GRCm39) |
V834A |
probably damaging |
Het |
| Kcnh7 |
T |
A |
2: 62,667,612 (GRCm39) |
H309L |
probably benign |
Het |
| Mael |
T |
C |
1: 166,053,282 (GRCm39) |
E241G |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,122,277 (GRCm39) |
E584V |
|
Het |
| Nexn |
C |
T |
3: 151,959,401 (GRCm39) |
V23M |
probably damaging |
Het |
| Npas1 |
T |
C |
7: 16,190,231 (GRCm39) |
|
probably null |
Het |
| Or51f1 |
T |
C |
7: 102,506,014 (GRCm39) |
I158M |
probably benign |
Het |
| Pcdh17 |
T |
G |
14: 84,685,522 (GRCm39) |
V663G |
probably damaging |
Het |
| Pga5 |
C |
T |
19: 10,646,897 (GRCm39) |
G303S |
probably damaging |
Het |
| Poln |
T |
A |
5: 34,164,842 (GRCm39) |
K844N |
probably damaging |
Het |
| Prkar1b |
C |
T |
5: 139,036,442 (GRCm39) |
D227N |
probably damaging |
Het |
| Proc |
T |
A |
18: 32,256,336 (GRCm39) |
I444F |
probably damaging |
Het |
| Ptprn |
G |
T |
1: 75,229,135 (GRCm39) |
H791N |
probably benign |
Het |
| Ror1 |
T |
C |
4: 100,191,709 (GRCm39) |
S160P |
probably benign |
Het |
| Satb2 |
T |
A |
1: 56,870,797 (GRCm39) |
|
probably null |
Het |
| Slc43a3 |
C |
T |
2: 84,780,771 (GRCm39) |
A332V |
probably benign |
Het |
| Sp100 |
G |
A |
1: 85,627,336 (GRCm39) |
V410M |
probably damaging |
Het |
| Srgap2 |
T |
C |
1: 131,217,346 (GRCm39) |
T989A |
probably benign |
Het |
| Ssc5d |
T |
C |
7: 4,930,283 (GRCm39) |
|
probably null |
Het |
| Tll2 |
A |
G |
19: 41,116,997 (GRCm39) |
Y273H |
probably benign |
Het |
| Tub |
T |
C |
7: 108,626,211 (GRCm39) |
V295A |
possibly damaging |
Het |
| Unc13b |
T |
A |
4: 43,172,512 (GRCm39) |
D1113E |
unknown |
Het |
| Usp9y |
C |
A |
Y: 1,364,776 (GRCm39) |
M1012I |
probably benign |
Het |
| Vmn1r238 |
A |
G |
18: 3,122,676 (GRCm39) |
V246A |
probably damaging |
Het |
| Vmn2r88 |
T |
G |
14: 51,656,197 (GRCm39) |
V802G |
|
Het |
| Wnt7b |
T |
C |
15: 85,443,175 (GRCm39) |
Q76R |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,389,917 (GRCm39) |
R4852G |
unknown |
Het |
| Zfp618 |
A |
T |
4: 63,051,258 (GRCm39) |
T680S |
probably damaging |
Het |
| Zfp784 |
T |
A |
7: 5,041,338 (GRCm39) |
D25V |
unknown |
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 |
|
R9531:Ezh1
|
UTSW |
11 |
101,104,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCTTTGTCCCCAGAAGCC -3'
(R):5'- AATGCCCAGCTCCTAATCTC -3'
Sequencing Primer
(F):5'- TGAAATAGGTGCCGTGGA -3'
(R):5'- GCACGCAGGAACTATGTAGACC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation