Incidental Mutation 'IGL02234:Epc1'
| ID |
285837 |
| 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 # |
IGL02234
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
6435951-6516108 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 6439938 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 79
(H79Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117601
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028100]
[ENSMUST00000115870]
[ENSMUST00000124926]
|
| AlphaFold |
Q8C9X6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028100
AA Change: H675Y
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000028100
Gene: ENSMUSG00000024240
AA Change: H675Y
| 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: H625Y
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000111536
Gene: ENSMUSG00000024240
AA Change: H625Y
| 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 damaging
Transcript: ENSMUST00000124926
AA Change: H79Y
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000117601
Gene: ENSMUSG00000024240
AA Change: H79Y
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
C |
T |
6: 121,645,179 (GRCm39) |
T1010M |
possibly damaging |
Het |
| Atr |
A |
G |
9: 95,829,303 (GRCm39) |
|
probably benign |
Het |
| Cdc42bpa |
A |
T |
1: 179,978,756 (GRCm39) |
K1585* |
probably null |
Het |
| Cdh19 |
T |
C |
1: 110,859,956 (GRCm39) |
D175G |
probably damaging |
Het |
| Celsr3 |
G |
T |
9: 108,707,159 (GRCm39) |
R1214L |
probably benign |
Het |
| Chchd1 |
T |
C |
14: 20,753,478 (GRCm39) |
|
probably null |
Het |
| Col4a1 |
T |
C |
8: 11,266,713 (GRCm39) |
K1165E |
probably damaging |
Het |
| Col6a4 |
A |
G |
9: 105,890,631 (GRCm39) |
F1888L |
possibly damaging |
Het |
| Csmd3 |
C |
A |
15: 47,811,512 (GRCm39) |
R1193L |
probably damaging |
Het |
| Cyp2d11 |
T |
A |
15: 82,274,340 (GRCm39) |
H347L |
probably benign |
Het |
| Cyp4f13 |
A |
G |
17: 33,143,748 (GRCm39) |
|
probably benign |
Het |
| Dop1b |
T |
C |
16: 93,549,039 (GRCm39) |
V193A |
probably benign |
Het |
| Dus4l |
T |
C |
12: 31,691,495 (GRCm39) |
|
probably benign |
Het |
| Gm12588 |
T |
A |
11: 121,799,151 (GRCm39) |
|
|
Het |
| Gpr107 |
T |
C |
2: 31,067,845 (GRCm39) |
Y222H |
probably damaging |
Het |
| Gzmn |
C |
T |
14: 56,406,464 (GRCm39) |
|
probably null |
Het |
| Helq |
A |
G |
5: 100,944,336 (GRCm39) |
I258T |
possibly damaging |
Het |
| Hsp90ab1 |
T |
C |
17: 45,880,661 (GRCm39) |
K137R |
probably benign |
Het |
| Htr1f |
T |
A |
16: 64,746,430 (GRCm39) |
R287S |
probably damaging |
Het |
| Il20ra |
A |
C |
10: 19,625,018 (GRCm39) |
D99A |
probably damaging |
Het |
| Lpp |
C |
T |
16: 24,580,895 (GRCm39) |
R204W |
probably damaging |
Het |
| Mboat7 |
A |
G |
7: 3,694,350 (GRCm39) |
Y34H |
probably damaging |
Het |
| Mid2 |
T |
C |
X: 139,664,418 (GRCm39) |
S646P |
probably damaging |
Het |
| Msh6 |
T |
C |
17: 88,294,229 (GRCm39) |
S995P |
probably damaging |
Het |
| Mtmr10 |
A |
G |
7: 63,949,350 (GRCm39) |
I108V |
probably benign |
Het |
| Muc6 |
G |
A |
7: 141,226,842 (GRCm39) |
T1395M |
probably benign |
Het |
| Nlrp4f |
A |
G |
13: 65,342,302 (GRCm39) |
F448L |
probably damaging |
Het |
| Odc1 |
C |
A |
12: 17,598,621 (GRCm39) |
D220E |
possibly damaging |
Het |
| Or8k33 |
T |
C |
2: 86,383,610 (GRCm39) |
N286S |
probably damaging |
Het |
| Pax7 |
A |
G |
4: 139,555,901 (GRCm39) |
I189T |
probably damaging |
Het |
| Pcdh12 |
T |
A |
18: 38,416,588 (GRCm39) |
H179L |
probably damaging |
Het |
| Pcdh15 |
A |
T |
10: 74,467,694 (GRCm39) |
M1836L |
probably benign |
Het |
| Psmc5 |
T |
C |
11: 106,153,836 (GRCm39) |
V390A |
probably benign |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Rpgrip1 |
A |
G |
14: 52,368,766 (GRCm39) |
|
probably benign |
Het |
| Sema5a |
C |
T |
15: 32,679,318 (GRCm39) |
R866C |
probably damaging |
Het |
| Stox2 |
A |
G |
8: 47,646,647 (GRCm39) |
F271S |
probably damaging |
Het |
| Tpgs2 |
T |
C |
18: 25,282,301 (GRCm39) |
|
probably null |
Het |
| Ttll8 |
T |
A |
15: 88,798,252 (GRCm39) |
I828F |
possibly damaging |
Het |
| Vmn1r7 |
T |
C |
6: 57,001,537 (GRCm39) |
Y241C |
probably damaging |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
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 |
|
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 |
2015-04-16 |
Incidental Mutation