Incidental Mutation 'IGL01929:Epc1'
| ID |
180380 |
| 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 # |
IGL01929
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
6435951-6516108 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 6449217 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 427
(F427L)
|
| 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: F477L
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000028100
Gene: ENSMUSG00000024240
AA Change: F477L
| 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 |
possibly damaging
Transcript: ENSMUST00000115870
AA Change: F427L
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000111536
Gene: ENSMUSG00000024240
AA Change: F427L
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam15 |
G |
A |
3: 89,251,445 (GRCm39) |
P467S |
probably benign |
Het |
| Areg |
T |
C |
5: 91,292,312 (GRCm39) |
I204T |
probably benign |
Het |
| Dnah3 |
A |
T |
7: 119,550,874 (GRCm39) |
Y3137* |
probably null |
Het |
| Dnajc10 |
T |
G |
2: 80,158,420 (GRCm39) |
C270W |
probably damaging |
Het |
| Fcgbp |
A |
T |
7: 27,803,388 (GRCm39) |
D1664V |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm6686 |
G |
A |
17: 15,786,577 (GRCm39) |
|
probably benign |
Het |
| Grik4 |
C |
A |
9: 42,477,594 (GRCm39) |
|
probably null |
Het |
| H2-Oa |
G |
A |
17: 34,313,056 (GRCm39) |
|
probably null |
Het |
| Iigp1c |
A |
G |
18: 60,379,554 (GRCm39) |
E363G |
probably benign |
Het |
| Il20ra |
T |
G |
10: 19,635,019 (GRCm39) |
L420R |
probably benign |
Het |
| Kcnk2 |
A |
G |
1: 189,072,227 (GRCm39) |
S34P |
probably damaging |
Het |
| Klc4 |
A |
G |
17: 46,955,173 (GRCm39) |
|
probably null |
Het |
| Large1 |
T |
C |
8: 73,585,903 (GRCm39) |
Y401C |
probably damaging |
Het |
| Lrrc59 |
T |
C |
11: 94,534,342 (GRCm39) |
V300A |
possibly damaging |
Het |
| Myom2 |
T |
A |
8: 15,167,698 (GRCm39) |
D1094E |
probably damaging |
Het |
| Nfrkb |
T |
A |
9: 31,331,169 (GRCm39) |
I1230N |
possibly damaging |
Het |
| Or55b3 |
A |
G |
7: 102,126,373 (GRCm39) |
S235P |
possibly damaging |
Het |
| Prr14l |
T |
C |
5: 32,985,587 (GRCm39) |
T146A |
probably benign |
Het |
| Psmd5 |
A |
G |
2: 34,753,478 (GRCm39) |
V221A |
probably damaging |
Het |
| Ptchd4 |
A |
T |
17: 42,814,213 (GRCm39) |
T705S |
probably benign |
Het |
| Ptprm |
G |
A |
17: 66,997,544 (GRCm39) |
A1184V |
probably damaging |
Het |
| Rb1cc1 |
G |
T |
1: 6,310,383 (GRCm39) |
K260N |
possibly damaging |
Het |
| Rbm28 |
T |
A |
6: 29,128,584 (GRCm39) |
D46V |
possibly damaging |
Het |
| Sdk1 |
T |
C |
5: 141,938,785 (GRCm39) |
Y403H |
probably damaging |
Het |
| Slco3a1 |
A |
G |
7: 73,968,353 (GRCm39) |
|
probably benign |
Het |
| Slfn8 |
T |
A |
11: 82,894,231 (GRCm39) |
K803* |
probably null |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r130 |
A |
T |
17: 23,295,851 (GRCm39) |
I674F |
possibly damaging |
Het |
| Vmn2r82 |
A |
T |
10: 79,214,545 (GRCm39) |
D176V |
probably damaging |
Het |
| Wdr70 |
A |
T |
15: 7,950,115 (GRCm39) |
|
probably null |
Het |
| Xdh |
A |
T |
17: 74,241,850 (GRCm39) |
C150S |
probably damaging |
Het |
| Xpo5 |
G |
T |
17: 46,513,855 (GRCm39) |
M3I |
probably benign |
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 |
|
IGL00930:Epc1
|
APN |
18 |
6,449,196 (GRCm39) |
missense |
probably benign |
|
|
IGL01637:Epc1
|
APN |
18 |
6,439,724 (GRCm39) |
missense |
probably benign |
0.22 |
|
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 |
2014-05-07 |
Incidental Mutation