Incidental Mutation 'IGL03303:Ezh1'
ID |
416300 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ezh1
|
Ensembl Gene |
ENSMUSG00000006920 |
Gene Name |
enhancer of zeste 1 polycomb repressive complex 2 subunit |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03303
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
101081941-101117268 bp(-) (GRCm39) |
Type of Mutation |
splice site (1718 bp from exon) |
DNA Base Change (assembly) |
A to C
at 101086497 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097984
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100417]
[ENSMUST00000103109]
[ENSMUST00000107284]
[ENSMUST00000107285]
|
AlphaFold |
P70351 |
Predicted Effect |
probably null
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: C563G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102905 Gene: ENSMUSG00000006920 AA Change: C563G
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: C566G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102906 Gene: ENSMUSG00000006920 AA Change: C566G
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
|
Coding Region Coverage |
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
T |
A |
6: 121,644,122 (GRCm39) |
V940E |
probably damaging |
Het |
Agap1 |
T |
A |
1: 89,592,874 (GRCm39) |
V307D |
probably damaging |
Het |
Amd1 |
A |
G |
10: 40,166,121 (GRCm39) |
V286A |
possibly damaging |
Het |
Bltp1 |
A |
G |
3: 36,924,226 (GRCm39) |
E17G |
possibly damaging |
Het |
Chrne |
T |
C |
11: 70,505,926 (GRCm39) |
K453R |
possibly damaging |
Het |
Ckm |
T |
A |
7: 19,148,263 (GRCm39) |
|
probably benign |
Het |
Ckmt1 |
A |
G |
2: 121,190,486 (GRCm39) |
T138A |
probably benign |
Het |
Cldn4 |
A |
G |
5: 134,975,103 (GRCm39) |
V166A |
possibly damaging |
Het |
Dclre1a |
T |
C |
19: 56,535,198 (GRCm39) |
T129A |
possibly damaging |
Het |
Dlgap2 |
T |
A |
8: 14,777,812 (GRCm39) |
D352E |
probably damaging |
Het |
Dnmt1 |
A |
G |
9: 20,838,006 (GRCm39) |
I236T |
probably benign |
Het |
Enam |
G |
T |
5: 88,652,450 (GRCm39) |
V1320L |
probably benign |
Het |
F13b |
A |
T |
1: 139,440,774 (GRCm39) |
D410V |
possibly damaging |
Het |
Fcrl6 |
A |
T |
1: 172,425,255 (GRCm39) |
Y259N |
probably damaging |
Het |
Fpr-rs7 |
A |
T |
17: 20,334,001 (GRCm39) |
F163Y |
possibly damaging |
Het |
Gpihbp1 |
C |
T |
15: 75,469,827 (GRCm39) |
Q181* |
probably null |
Het |
Htr2b |
T |
C |
1: 86,027,061 (GRCm39) |
|
probably benign |
Het |
Igkv1-35 |
A |
G |
6: 69,988,635 (GRCm39) |
I8T |
probably benign |
Het |
Kcnq2 |
T |
C |
2: 180,724,182 (GRCm39) |
T584A |
probably benign |
Het |
Khdrbs3 |
A |
G |
15: 68,896,672 (GRCm39) |
T111A |
probably benign |
Het |
Krtap29-1 |
A |
T |
11: 99,869,669 (GRCm39) |
C71S |
probably benign |
Het |
Lrrc4c |
A |
T |
2: 97,459,937 (GRCm39) |
I188F |
probably damaging |
Het |
Med1 |
G |
T |
11: 98,049,178 (GRCm39) |
N539K |
probably damaging |
Het |
Mga |
T |
A |
2: 119,733,933 (GRCm39) |
D260E |
probably damaging |
Het |
Mnd1 |
A |
G |
3: 84,012,244 (GRCm39) |
I155T |
probably benign |
Het |
Msrb3 |
T |
C |
10: 120,620,046 (GRCm39) |
D91G |
probably benign |
Het |
Mycbp2 |
A |
T |
14: 103,485,194 (GRCm39) |
D1102E |
probably damaging |
Het |
Nfx1 |
T |
A |
4: 41,004,323 (GRCm39) |
|
probably benign |
Het |
Nrsn2 |
T |
C |
2: 152,216,131 (GRCm39) |
D24G |
possibly damaging |
Het |
Or4c127 |
A |
T |
2: 89,832,810 (GRCm39) |
K20I |
possibly damaging |
Het |
Osmr |
T |
A |
15: 6,872,289 (GRCm39) |
R268S |
probably benign |
Het |
Pelo |
C |
A |
13: 115,225,197 (GRCm39) |
V343L |
probably damaging |
Het |
Rp1 |
T |
A |
1: 4,415,040 (GRCm39) |
N2024I |
probably damaging |
Het |
Rps6ka2 |
C |
T |
17: 7,495,411 (GRCm39) |
Q33* |
probably null |
Het |
Slfn2 |
G |
A |
11: 82,960,293 (GRCm39) |
V91I |
possibly damaging |
Het |
Socs6 |
G |
T |
18: 88,887,868 (GRCm39) |
A349E |
probably damaging |
Het |
Syt2 |
A |
G |
1: 134,669,649 (GRCm39) |
N97D |
probably benign |
Het |
Tas2r123 |
T |
A |
6: 132,824,401 (GRCm39) |
H99Q |
probably damaging |
Het |
Tmc3 |
A |
G |
7: 83,239,933 (GRCm39) |
|
probably benign |
Het |
Ube2s |
A |
T |
7: 4,813,476 (GRCm39) |
V35D |
probably damaging |
Het |
Usp32 |
A |
T |
11: 84,913,658 (GRCm39) |
V891D |
probably damaging |
Het |
Vmn1r169 |
A |
T |
7: 23,277,434 (GRCm39) |
E275D |
probably benign |
Het |
Vps13c |
A |
G |
9: 67,841,786 (GRCm39) |
H1936R |
probably benign |
Het |
Wrap73 |
C |
A |
4: 154,231,000 (GRCm39) |
A92E |
probably damaging |
Het |
Zfhx4 |
C |
T |
3: 5,468,410 (GRCm39) |
T2856M |
probably damaging |
Het |
Zmym1 |
A |
T |
4: 126,942,927 (GRCm39) |
I487N |
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 |
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 |
R9531:Ezh1
|
UTSW |
11 |
101,104,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |