Incidental Mutation 'IGL00930:Epc1'
ID |
29420 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Epc1
|
Ensembl Gene |
ENSMUSG00000024240 |
Gene Name |
enhancer of polycomb homolog 1 |
Synonyms |
A930032N02Rik, 2400007E14Rik, 5730566F07Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL00930
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
6435951-6516108 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 6449196 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 434
(M434L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000111536
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028100]
[ENSMUST00000115870]
|
AlphaFold |
Q8C9X6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028100
AA Change: M484L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000028100 Gene: ENSMUSG00000024240 AA Change: M484L
Domain | Start | End | E-Value | Type |
Pfam:EPL1
|
7 |
149 |
7e-14 |
PFAM |
low complexity region
|
161 |
170 |
N/A |
INTRINSIC |
low complexity region
|
345 |
361 |
N/A |
INTRINSIC |
low complexity region
|
455 |
465 |
N/A |
INTRINSIC |
low complexity region
|
564 |
577 |
N/A |
INTRINSIC |
Pfam:E_Pc_C
|
581 |
813 |
1.6e-106 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115870
AA Change: M434L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000111536 Gene: ENSMUSG00000024240 AA Change: M434L
Domain | Start | End | E-Value | Type |
Pfam:EPL1
|
1 |
99 |
1.3e-19 |
PFAM |
low complexity region
|
111 |
120 |
N/A |
INTRINSIC |
low complexity region
|
295 |
311 |
N/A |
INTRINSIC |
low complexity region
|
405 |
415 |
N/A |
INTRINSIC |
low complexity region
|
514 |
527 |
N/A |
INTRINSIC |
Pfam:E_Pc_C
|
531 |
763 |
1.7e-110 |
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. The encoded protein is a component of the NuA4 histone acetyltransferase complex and can act as both a transcriptional activator and repressor. The encoded protein has been linked to apoptosis, DNA repair, skeletal muscle differentiation, gene silencing, and adult T-cell leukemia/lymphoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012] PHENOTYPE: Mice homozygous for a gene trap allele die prior to P10 (no time point given) and heterozygous mice exhibit impaired skeletal muscle differentiation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm2 |
T |
C |
7: 119,191,533 (GRCm39) |
S534P |
possibly damaging |
Het |
Adamts15 |
G |
A |
9: 30,813,349 (GRCm39) |
P939S |
probably damaging |
Het |
Alms1 |
T |
C |
6: 85,578,292 (GRCm39) |
S207P |
probably damaging |
Het |
Chd7 |
A |
G |
4: 8,805,181 (GRCm39) |
K747E |
probably damaging |
Het |
Dock5 |
G |
T |
14: 68,008,526 (GRCm39) |
N1457K |
probably damaging |
Het |
Donson |
T |
C |
16: 91,479,479 (GRCm39) |
E323G |
possibly damaging |
Het |
Fcer1a |
A |
G |
1: 173,050,100 (GRCm39) |
|
probably benign |
Het |
Hemgn |
A |
T |
4: 46,396,383 (GRCm39) |
C284* |
probably null |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Or7g34 |
A |
G |
9: 19,478,471 (GRCm39) |
S67P |
probably damaging |
Het |
Pcdh15 |
G |
A |
10: 74,466,530 (GRCm39) |
E1450K |
probably benign |
Het |
Pfpl |
A |
T |
19: 12,407,009 (GRCm39) |
H420L |
probably benign |
Het |
Pitpnm2 |
A |
G |
5: 124,259,726 (GRCm39) |
|
probably benign |
Het |
Pole2 |
A |
G |
12: 69,273,219 (GRCm39) |
|
probably benign |
Het |
Prmt3 |
T |
A |
7: 49,441,757 (GRCm39) |
Y245N |
probably damaging |
Het |
Rpl10a |
T |
C |
17: 28,547,981 (GRCm39) |
Y41H |
probably damaging |
Het |
Tpst1 |
A |
T |
5: 130,130,975 (GRCm39) |
K148N |
probably benign |
Het |
Vmn1r199 |
A |
G |
13: 22,567,029 (GRCm39) |
T108A |
possibly damaging |
Het |
Wdr7 |
T |
A |
18: 63,873,315 (GRCm39) |
C525* |
probably null |
Het |
Zfp646 |
A |
G |
7: 127,478,302 (GRCm39) |
T160A |
possibly damaging |
Het |
|
Other mutations in Epc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00516:Epc1
|
APN |
18 |
6,450,515 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01637:Epc1
|
APN |
18 |
6,439,724 (GRCm39) |
missense |
probably benign |
0.22 |
IGL01929:Epc1
|
APN |
18 |
6,449,217 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01993:Epc1
|
APN |
18 |
6,449,136 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL02234:Epc1
|
APN |
18 |
6,439,938 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02262:Epc1
|
APN |
18 |
6,437,278 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02746:Epc1
|
APN |
18 |
6,454,317 (GRCm39) |
missense |
probably benign |
0.09 |
PIT4131001:Epc1
|
UTSW |
18 |
6,449,246 (GRCm39) |
missense |
probably damaging |
1.00 |
R0101:Epc1
|
UTSW |
18 |
6,462,998 (GRCm39) |
splice site |
probably benign |
|
R0230:Epc1
|
UTSW |
18 |
6,440,168 (GRCm39) |
missense |
probably damaging |
1.00 |
R0310:Epc1
|
UTSW |
18 |
6,440,202 (GRCm39) |
splice site |
probably benign |
|
R0959:Epc1
|
UTSW |
18 |
6,453,657 (GRCm39) |
missense |
probably damaging |
1.00 |
R1172:Epc1
|
UTSW |
18 |
6,490,525 (GRCm39) |
missense |
probably damaging |
0.99 |
R1445:Epc1
|
UTSW |
18 |
6,452,360 (GRCm39) |
missense |
probably damaging |
1.00 |
R1576:Epc1
|
UTSW |
18 |
6,452,366 (GRCm39) |
missense |
possibly damaging |
0.49 |
R1640:Epc1
|
UTSW |
18 |
6,441,175 (GRCm39) |
nonsense |
probably null |
|
R2128:Epc1
|
UTSW |
18 |
6,462,954 (GRCm39) |
missense |
probably damaging |
1.00 |
R3763:Epc1
|
UTSW |
18 |
6,440,091 (GRCm39) |
missense |
possibly damaging |
0.81 |
R3883:Epc1
|
UTSW |
18 |
6,452,258 (GRCm39) |
missense |
possibly damaging |
0.67 |
R4184:Epc1
|
UTSW |
18 |
6,453,578 (GRCm39) |
missense |
possibly damaging |
0.65 |
R4258:Epc1
|
UTSW |
18 |
6,450,130 (GRCm39) |
missense |
probably benign |
0.21 |
R4585:Epc1
|
UTSW |
18 |
6,441,157 (GRCm39) |
nonsense |
probably null |
|
R4586:Epc1
|
UTSW |
18 |
6,449,138 (GRCm39) |
missense |
possibly damaging |
0.88 |
R4894:Epc1
|
UTSW |
18 |
6,449,011 (GRCm39) |
missense |
probably benign |
|
R5305:Epc1
|
UTSW |
18 |
6,490,690 (GRCm39) |
intron |
probably benign |
|
R5314:Epc1
|
UTSW |
18 |
6,462,969 (GRCm39) |
missense |
probably damaging |
1.00 |
R5335:Epc1
|
UTSW |
18 |
6,490,689 (GRCm39) |
intron |
probably benign |
|
R5344:Epc1
|
UTSW |
18 |
6,450,614 (GRCm39) |
missense |
probably benign |
0.03 |
R5620:Epc1
|
UTSW |
18 |
6,448,917 (GRCm39) |
missense |
probably benign |
0.01 |
R7567:Epc1
|
UTSW |
18 |
6,450,084 (GRCm39) |
missense |
probably damaging |
1.00 |
R8129:Epc1
|
UTSW |
18 |
6,439,634 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9148:Epc1
|
UTSW |
18 |
6,453,266 (GRCm39) |
intron |
probably benign |
|
R9266:Epc1
|
UTSW |
18 |
6,449,219 (GRCm39) |
missense |
probably benign |
0.00 |
R9704:Epc1
|
UTSW |
18 |
6,440,130 (GRCm39) |
missense |
probably damaging |
1.00 |
R9781:Epc1
|
UTSW |
18 |
6,455,187 (GRCm39) |
critical splice donor site |
probably null |
|
|
Posted On |
2013-04-17 |