Incidental Mutation 'IGL02748:Ezh2'
| ID |
306169 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ezh2
|
| Ensembl Gene |
ENSMUSG00000029687 |
| Gene Name |
enhancer of zeste 2 polycomb repressive complex 2 subunit |
| Synonyms |
Enx1h, Enx-1, KMT6 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02748
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
47507073-47572275 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 47535173 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 92
(L92P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118663
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081721]
[ENSMUST00000092648]
[ENSMUST00000114616]
[ENSMUST00000114618]
[ENSMUST00000133043]
[ENSMUST00000169889]
[ENSMUST00000204798]
|
| AlphaFold |
Q61188 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081721
AA Change: L101P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080419
Gene: ENSMUSG00000029687
AA Change: L101P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EZH2_WD-Binding
|
39 |
68 |
6.1e-18 |
PFAM |
|
SANT
|
159 |
250 |
9.7e-3 |
SMART |
|
low complexity region
|
349 |
366 |
N/A |
INTRINSIC |
|
low complexity region
|
385 |
409 |
N/A |
INTRINSIC |
|
SANT
|
428 |
476 |
6.62e-1 |
SMART |
|
CXC
|
555 |
592 |
1.05e-1 |
SMART |
|
SET
|
612 |
733 |
4.15e-38 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092648
AA Change: L101P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090318
Gene: ENSMUSG00000029687
AA Change: L101P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EZH2_WD-Binding
|
39 |
68 |
6.9e-20 |
PFAM |
|
SANT
|
159 |
250 |
9.7e-3 |
SMART |
|
Blast:SET
|
272 |
333 |
3e-13 |
BLAST |
|
low complexity region
|
349 |
366 |
N/A |
INTRINSIC |
|
low complexity region
|
385 |
409 |
N/A |
INTRINSIC |
|
SANT
|
428 |
476 |
6.62e-1 |
SMART |
|
CXC
|
513 |
550 |
1.05e-1 |
SMART |
|
SET
|
570 |
691 |
4.15e-38 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114616
|
| SMART Domains |
Protein: ENSMUSP00000110263
Gene: ENSMUSG00000029687
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EZH2_WD-Binding
|
39 |
68 |
2.5e-20 |
PFAM |
|
SANT
|
120 |
211 |
9.7e-3 |
SMART |
|
low complexity region
|
310 |
327 |
N/A |
INTRINSIC |
|
low complexity region
|
346 |
370 |
N/A |
INTRINSIC |
|
SANT
|
389 |
437 |
6.62e-1 |
SMART |
|
CXC
|
516 |
553 |
1.05e-1 |
SMART |
|
SET
|
573 |
694 |
4.15e-38 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114618
AA Change: L92P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110265
Gene: ENSMUSG00000029687
AA Change: L92P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EZH2_WD-Binding
|
39 |
68 |
7.4e-20 |
PFAM |
|
SANT
|
150 |
241 |
9.7e-3 |
SMART |
|
low complexity region
|
345 |
362 |
N/A |
INTRINSIC |
|
low complexity region
|
381 |
405 |
N/A |
INTRINSIC |
|
SANT
|
424 |
472 |
6.62e-1 |
SMART |
|
CXC
|
551 |
588 |
1.05e-1 |
SMART |
|
SET
|
608 |
729 |
4.15e-38 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000133043
AA Change: L92P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118663
Gene: ENSMUSG00000029687
AA Change: L92P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EZH2_WD-Binding
|
39 |
68 |
2.5e-20 |
PFAM |
|
Blast:SANT
|
150 |
233 |
3e-43 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169889
|
| SMART Domains |
Protein: ENSMUSP00000126481
Gene: ENSMUSG00000029687
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
16 |
N/A |
INTRINSIC |
|
Blast:SET
|
18 |
150 |
3e-45 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170327
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204798
|
| SMART Domains |
Protein: ENSMUSP00000144780
Gene: ENSMUSG00000029687
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EZH2_WD-Binding
|
39 |
68 |
4.4e-16 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Polycomb-group (PcG) family. PcG family members form multimeric protein complexes, which are involved in maintaining the transcriptional repressive state of genes over successive cell generations. This protein associates with the embryonic ectoderm development protein, the VAV1 oncoprotein, and the X-linked nuclear protein. This protein may play a role in the hematopoietic and central nervous systems. Multiple alternatively splcied transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Homozygous null mutants die prior to completing gastrulation. A conditional mutant with loss of expression in immune cells survives, but has defects in early B cell development and Igh rearrangement. Conditional loss of maternal protein results in severegrowth retardation of neonates. Conditional loss in oligodendrocytes affects oligodendrocyte maturation and delays subsequent myelinization of axons in the central nervous system by oligodendrocytes. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Baiap2l1 |
T |
A |
5: 144,203,415 (GRCm39) |
|
probably benign |
Het |
| Btbd9 |
T |
C |
17: 30,553,271 (GRCm39) |
N397S |
possibly damaging |
Het |
| Crlf3 |
A |
G |
11: 79,950,145 (GRCm39) |
S162P |
probably damaging |
Het |
| Dctn2 |
C |
T |
10: 127,113,142 (GRCm39) |
R231C |
probably damaging |
Het |
| Dhcr24 |
T |
C |
4: 106,421,589 (GRCm39) |
|
probably benign |
Het |
| Efcab12 |
T |
A |
6: 115,797,063 (GRCm39) |
T364S |
probably damaging |
Het |
| Eps8l3 |
A |
G |
3: 107,786,684 (GRCm39) |
|
probably benign |
Het |
| Fbxw15 |
A |
G |
9: 109,387,278 (GRCm39) |
I239T |
possibly damaging |
Het |
| Fndc4 |
T |
C |
5: 31,452,130 (GRCm39) |
T96A |
possibly damaging |
Het |
| Gcn1 |
G |
A |
5: 115,748,859 (GRCm39) |
|
probably null |
Het |
| Ifna13 |
A |
G |
4: 88,562,097 (GRCm39) |
S176P |
probably damaging |
Het |
| Kcnh1 |
A |
G |
1: 191,903,728 (GRCm39) |
H56R |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,592,761 (GRCm39) |
D3786G |
probably damaging |
Het |
| Mcm3ap |
T |
A |
10: 76,337,082 (GRCm39) |
V1339E |
probably damaging |
Het |
| Mthfd1l |
T |
C |
10: 3,968,587 (GRCm39) |
V414A |
possibly damaging |
Het |
| Mthfd1l |
T |
G |
10: 3,930,268 (GRCm39) |
|
probably null |
Het |
| Or10ag56 |
T |
A |
2: 87,140,009 (GRCm39) |
L312Q |
probably damaging |
Het |
| Or5an1c |
A |
G |
19: 12,218,204 (GRCm39) |
F274L |
probably benign |
Het |
| Or6b3 |
A |
G |
1: 92,439,189 (GRCm39) |
L187P |
probably damaging |
Het |
| Pcdhb15 |
T |
C |
18: 37,608,273 (GRCm39) |
S502P |
probably damaging |
Het |
| Pde5a |
T |
A |
3: 122,554,541 (GRCm39) |
N242K |
probably damaging |
Het |
| Pik3cb |
A |
T |
9: 98,945,021 (GRCm39) |
|
probably benign |
Het |
| Rab3gap1 |
A |
G |
1: 127,865,198 (GRCm39) |
M729V |
probably damaging |
Het |
| Rai14 |
A |
G |
15: 10,589,421 (GRCm39) |
V259A |
probably benign |
Het |
| Rassf4 |
T |
C |
6: 116,616,418 (GRCm39) |
I298V |
possibly damaging |
Het |
| Senp7 |
C |
T |
16: 56,006,457 (GRCm39) |
T927M |
probably damaging |
Het |
| Snx27 |
A |
T |
3: 94,410,872 (GRCm39) |
I426N |
probably benign |
Het |
| Syce1l |
A |
T |
8: 114,382,097 (GRCm39) |
|
probably benign |
Het |
| Tmem18 |
T |
C |
12: 30,638,744 (GRCm39) |
*141Q |
probably null |
Het |
| Tnrc6c |
T |
C |
11: 117,622,996 (GRCm39) |
S1006P |
probably benign |
Het |
| Utp20 |
T |
C |
10: 88,653,157 (GRCm39) |
T308A |
probably benign |
Het |
| Vmn2r24 |
T |
A |
6: 123,793,057 (GRCm39) |
C795S |
possibly damaging |
Het |
| Zdhhc20 |
A |
G |
14: 58,096,010 (GRCm39) |
S143P |
probably benign |
Het |
|
| Other mutations in Ezh2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01582:Ezh2
|
APN |
6 |
47,532,989 (GRCm39) |
nonsense |
probably null |
|
|
IGL01932:Ezh2
|
APN |
6 |
47,508,982 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02019:Ezh2
|
APN |
6 |
47,528,835 (GRCm39) |
splice site |
probably null |
|
|
IGL02749:Ezh2
|
APN |
6 |
47,510,698 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03171:Ezh2
|
APN |
6 |
47,517,715 (GRCm39) |
nonsense |
probably null |
|
|
Peezy
|
UTSW |
6 |
47,510,692 (GRCm39) |
nonsense |
probably null |
|
|
R0417:Ezh2
|
UTSW |
6 |
47,528,660 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1256:Ezh2
|
UTSW |
6 |
47,518,789 (GRCm39) |
nonsense |
probably null |
|
|
R1587:Ezh2
|
UTSW |
6 |
47,529,424 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1631:Ezh2
|
UTSW |
6 |
47,554,592 (GRCm39) |
start codon destroyed |
probably null |
0.01 |
|
R1736:Ezh2
|
UTSW |
6 |
47,553,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1775:Ezh2
|
UTSW |
6 |
47,553,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2076:Ezh2
|
UTSW |
6 |
47,553,567 (GRCm39) |
nonsense |
probably null |
|
|
R2311:Ezh2
|
UTSW |
6 |
47,535,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3751:Ezh2
|
UTSW |
6 |
47,532,998 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4016:Ezh2
|
UTSW |
6 |
47,521,516 (GRCm39) |
missense |
probably benign |
|
|
R4119:Ezh2
|
UTSW |
6 |
47,521,482 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4214:Ezh2
|
UTSW |
6 |
47,510,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4770:Ezh2
|
UTSW |
6 |
47,517,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5133:Ezh2
|
UTSW |
6 |
47,517,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5137:Ezh2
|
UTSW |
6 |
47,509,014 (GRCm39) |
splice site |
probably null |
|
|
R5199:Ezh2
|
UTSW |
6 |
47,528,659 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5343:Ezh2
|
UTSW |
6 |
47,553,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5584:Ezh2
|
UTSW |
6 |
47,508,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5942:Ezh2
|
UTSW |
6 |
47,554,516 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6057:Ezh2
|
UTSW |
6 |
47,529,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7247:Ezh2
|
UTSW |
6 |
47,510,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7284:Ezh2
|
UTSW |
6 |
47,521,453 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7365:Ezh2
|
UTSW |
6 |
47,510,692 (GRCm39) |
nonsense |
probably null |
|
|
R7382:Ezh2
|
UTSW |
6 |
47,528,770 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7718:Ezh2
|
UTSW |
6 |
47,531,125 (GRCm39) |
missense |
probably benign |
|
|
R7910:Ezh2
|
UTSW |
6 |
47,533,077 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8206:Ezh2
|
UTSW |
6 |
47,509,834 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8428:Ezh2
|
UTSW |
6 |
47,522,745 (GRCm39) |
nonsense |
probably null |
|
|
R8746:Ezh2
|
UTSW |
6 |
47,553,534 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8836:Ezh2
|
UTSW |
6 |
47,531,196 (GRCm39) |
missense |
probably benign |
|
|
R8925:Ezh2
|
UTSW |
6 |
47,510,713 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8927:Ezh2
|
UTSW |
6 |
47,510,713 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9039:Ezh2
|
UTSW |
6 |
47,528,671 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9171:Ezh2
|
UTSW |
6 |
47,531,134 (GRCm39) |
missense |
probably benign |
|
|
R9642:Ezh2
|
UTSW |
6 |
47,521,453 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9716:Ezh2
|
UTSW |
6 |
47,531,141 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9774:Ezh2
|
UTSW |
6 |
47,519,315 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0021:Ezh2
|
UTSW |
6 |
47,531,103 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2015-04-16 |
Incidental Mutation