Incidental Mutation 'IGL01993:Epc1'
| ID |
182065 |
| 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 # |
IGL01993
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
6435951-6516108 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 6449136 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 504
(T504A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028100
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028100]
[ENSMUST00000115870]
|
| AlphaFold |
Q8C9X6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028100
AA Change: T504A
PolyPhen 2
Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000028100
Gene: ENSMUSG00000024240
AA Change: T504A
| 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: T454A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000111536
Gene: ENSMUSG00000024240
AA Change: T454A
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
C |
A |
11: 9,208,452 (GRCm39) |
|
probably benign |
Het |
| Acnat2 |
A |
T |
4: 49,380,131 (GRCm39) |
S398T |
probably benign |
Het |
| Adgrb2 |
G |
T |
4: 129,912,635 (GRCm39) |
E1296D |
possibly damaging |
Het |
| Adh4 |
C |
T |
3: 138,134,788 (GRCm39) |
|
probably benign |
Het |
| Anapc2 |
C |
A |
2: 25,164,725 (GRCm39) |
D322E |
probably benign |
Het |
| Apobec1 |
A |
G |
6: 122,565,138 (GRCm39) |
|
probably benign |
Het |
| Asic1 |
T |
C |
15: 99,595,353 (GRCm39) |
V393A |
probably benign |
Het |
| Cfap65 |
A |
C |
1: 74,959,702 (GRCm39) |
F816C |
probably damaging |
Het |
| Cfap69 |
A |
C |
5: 5,631,284 (GRCm39) |
L914R |
probably damaging |
Het |
| Cgas |
A |
G |
9: 78,349,802 (GRCm39) |
S187P |
probably benign |
Het |
| Cspg4 |
C |
T |
9: 56,805,762 (GRCm39) |
T2191I |
probably benign |
Het |
| Cyp11a1 |
T |
A |
9: 57,928,106 (GRCm39) |
I210N |
probably damaging |
Het |
| Dgkb |
T |
A |
12: 38,032,009 (GRCm39) |
Y24N |
probably benign |
Het |
| Fam135a |
A |
T |
1: 24,094,992 (GRCm39) |
D125E |
probably damaging |
Het |
| Fgd3 |
T |
C |
13: 49,433,664 (GRCm39) |
H345R |
possibly damaging |
Het |
| Gm12253 |
T |
C |
11: 58,325,379 (GRCm39) |
V17A |
probably damaging |
Het |
| Hars1 |
C |
T |
18: 36,903,265 (GRCm39) |
G355D |
probably damaging |
Het |
| Hpgd |
A |
T |
8: 56,772,097 (GRCm39) |
I190F |
probably benign |
Het |
| Ighv1-34 |
A |
T |
12: 114,815,003 (GRCm39) |
M53K |
probably benign |
Het |
| Ildr2 |
A |
T |
1: 166,096,939 (GRCm39) |
T53S |
possibly damaging |
Het |
| Ints5 |
T |
A |
19: 8,872,829 (GRCm39) |
C263S |
probably benign |
Het |
| Lars2 |
T |
C |
9: 123,224,008 (GRCm39) |
|
probably benign |
Het |
| Ldha |
G |
A |
7: 46,504,524 (GRCm39) |
A349T |
possibly damaging |
Het |
| Map3k2 |
T |
A |
18: 32,359,684 (GRCm39) |
C512* |
probably null |
Het |
| Parp4 |
G |
A |
14: 56,848,245 (GRCm39) |
R687Q |
possibly damaging |
Het |
| Plk2 |
T |
C |
13: 110,535,731 (GRCm39) |
S518P |
probably damaging |
Het |
| Prrc2b |
T |
G |
2: 32,114,057 (GRCm39) |
V2036G |
possibly damaging |
Het |
| Psg16 |
T |
A |
7: 16,827,631 (GRCm39) |
S196T |
probably benign |
Het |
| Psme3ip1 |
G |
T |
8: 95,302,380 (GRCm39) |
A217D |
possibly damaging |
Het |
| Ranbp17 |
T |
C |
11: 33,450,770 (GRCm39) |
T56A |
possibly damaging |
Het |
| Retsat |
T |
C |
6: 72,581,978 (GRCm39) |
|
probably benign |
Het |
| Robo3 |
G |
T |
9: 37,335,949 (GRCm39) |
L484I |
probably damaging |
Het |
| Septin4 |
G |
T |
11: 87,458,555 (GRCm39) |
G310W |
possibly damaging |
Het |
| Slc17a6 |
T |
C |
7: 51,317,705 (GRCm39) |
M446T |
possibly damaging |
Het |
| Slc38a1 |
G |
A |
15: 96,521,927 (GRCm39) |
T11M |
probably damaging |
Het |
| Tmem138 |
T |
C |
19: 10,548,952 (GRCm39) |
N106S |
probably benign |
Het |
| Traf1 |
G |
A |
2: 34,836,879 (GRCm39) |
|
probably benign |
Het |
| Tspan8 |
T |
C |
10: 115,675,913 (GRCm39) |
|
probably benign |
Het |
| Ubr5 |
T |
C |
15: 37,973,256 (GRCm39) |
E2615G |
probably damaging |
Het |
| Vwde |
A |
G |
6: 13,219,977 (GRCm39) |
I58T |
possibly damaging |
Het |
| Zc3h12c |
A |
G |
9: 52,027,611 (GRCm39) |
S603P |
probably damaging |
Het |
| Zfp746 |
A |
T |
6: 48,059,092 (GRCm39) |
S172R |
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 |
|
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