Incidental Mutation 'IGL02262:Epc1'
| ID |
286782 |
| 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 # |
IGL02262
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
6435951-6516108 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 6437278 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 750
(L750P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111536
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028100]
[ENSMUST00000115870]
[ENSMUST00000124926]
|
| AlphaFold |
Q8C9X6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028100
AA Change: L800P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028100
Gene: ENSMUSG00000024240
AA Change: L800P
| 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 damaging
Transcript: ENSMUST00000115870
AA Change: L750P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111536
Gene: ENSMUSG00000024240
AA Change: L750P
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124926
|
| SMART Domains |
Protein: ENSMUSP00000117601
Gene: ENSMUSG00000024240
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:E_Pc_C
|
1 |
193 |
2.4e-81 |
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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg6 |
G |
T |
10: 14,317,140 (GRCm39) |
A560E |
probably benign |
Het |
| Apol7c |
A |
T |
15: 77,410,013 (GRCm39) |
M311K |
probably benign |
Het |
| Arap2 |
A |
C |
5: 62,800,184 (GRCm39) |
V1281G |
probably damaging |
Het |
| Cacna1s |
C |
T |
1: 136,035,867 (GRCm39) |
T1388I |
probably damaging |
Het |
| Dcaf13 |
T |
C |
15: 38,982,102 (GRCm39) |
|
probably benign |
Het |
| Dscaml1 |
G |
A |
9: 45,656,414 (GRCm39) |
G1585S |
probably benign |
Het |
| Dscaml1 |
G |
A |
9: 45,643,378 (GRCm39) |
V1266I |
probably benign |
Het |
| Fgd6 |
T |
A |
10: 93,961,490 (GRCm39) |
M1108K |
probably damaging |
Het |
| Gm14496 |
T |
C |
2: 181,637,805 (GRCm39) |
I293T |
probably damaging |
Het |
| Gm21759 |
T |
C |
5: 8,230,747 (GRCm39) |
|
probably benign |
Het |
| Igkv3-10 |
A |
T |
6: 70,550,154 (GRCm39) |
D100V |
possibly damaging |
Het |
| Ipo13 |
A |
C |
4: 117,761,010 (GRCm39) |
I569M |
probably damaging |
Het |
| Itgb4 |
G |
A |
11: 115,879,752 (GRCm39) |
V635I |
probably damaging |
Het |
| Kif26b |
A |
G |
1: 178,743,633 (GRCm39) |
Y1243C |
probably benign |
Het |
| Map3k12 |
T |
C |
15: 102,410,510 (GRCm39) |
E489G |
probably damaging |
Het |
| Mtcl2 |
A |
T |
2: 156,872,826 (GRCm39) |
V895E |
probably damaging |
Het |
| Nrxn1 |
A |
G |
17: 91,011,636 (GRCm39) |
V331A |
probably damaging |
Het |
| Ntrk1 |
G |
A |
3: 87,689,104 (GRCm39) |
L529F |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,919,359 (GRCm39) |
C6882S |
possibly damaging |
Het |
| Or14j5 |
A |
C |
17: 38,162,154 (GRCm39) |
T224P |
probably damaging |
Het |
| Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
| Ppp1r13b |
C |
A |
12: 111,801,645 (GRCm39) |
L346F |
possibly damaging |
Het |
| Psg22 |
T |
C |
7: 18,458,496 (GRCm39) |
S396P |
probably damaging |
Het |
| Rbm19 |
A |
G |
5: 120,281,470 (GRCm39) |
E797G |
probably damaging |
Het |
| Ros1 |
T |
G |
10: 52,055,065 (GRCm39) |
D79A |
probably damaging |
Het |
| Scn10a |
C |
T |
9: 119,487,499 (GRCm39) |
V612I |
possibly damaging |
Het |
| Sema4c |
A |
G |
1: 36,589,422 (GRCm39) |
V568A |
probably damaging |
Het |
| Traf5 |
A |
G |
1: 191,729,636 (GRCm39) |
F472L |
probably damaging |
Het |
| Trim30b |
C |
T |
7: 104,015,107 (GRCm39) |
V94M |
probably damaging |
Het |
| Wasl |
A |
T |
6: 24,619,186 (GRCm39) |
S445T |
unknown |
Het |
| Zfp541 |
A |
G |
7: 15,813,620 (GRCm39) |
K758E |
probably 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 |
|
IGL00930:Epc1
|
APN |
18 |
6,449,196 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation