Incidental Mutation 'R4184:Epc1'
| ID |
319892 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epc1
|
| Ensembl Gene |
ENSMUSG00000024240 |
| Gene Name |
enhancer of polycomb homolog 1 |
| Synonyms |
A930032N02Rik, 2400007E14Rik, 5730566F07Rik |
| MMRRC Submission |
041020-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4184 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
6435951-6516108 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 6453578 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 249
(E249G)
|
| 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: E249G
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000028100
Gene: ENSMUSG00000024240
AA Change: E249G
| 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: E199G
PolyPhen 2
Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000111536
Gene: ENSMUSG00000024240
AA Change: E199G
| 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 |
|
| Meta Mutation Damage Score |
0.3704 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
95% (55/58) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acte1 |
A |
T |
7: 143,447,858 (GRCm39) |
K234* |
probably null |
Het |
| Ccdc178 |
A |
G |
18: 22,157,841 (GRCm39) |
L539P |
probably damaging |
Het |
| Cd5 |
T |
A |
19: 10,698,638 (GRCm39) |
N423I |
probably damaging |
Het |
| Ceacam20 |
C |
T |
7: 19,710,041 (GRCm39) |
T355I |
probably damaging |
Het |
| Chil4 |
G |
A |
3: 106,111,043 (GRCm39) |
P284S |
possibly damaging |
Het |
| Cln8 |
T |
C |
8: 14,945,030 (GRCm39) |
F115L |
probably benign |
Het |
| Cpne9 |
T |
A |
6: 113,259,418 (GRCm39) |
|
probably benign |
Het |
| Cyp4a32 |
C |
T |
4: 115,478,720 (GRCm39) |
T484I |
possibly damaging |
Het |
| Des |
C |
G |
1: 75,339,228 (GRCm39) |
A251G |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,682,516 (GRCm39) |
D270G |
probably damaging |
Het |
| Fsbp |
T |
A |
4: 11,584,058 (GRCm39) |
N252K |
probably benign |
Het |
| Gramd1a |
C |
A |
7: 30,831,940 (GRCm39) |
|
probably benign |
Het |
| Grsf1 |
G |
A |
5: 88,812,015 (GRCm39) |
P271S |
probably benign |
Het |
| Igsf10 |
C |
T |
3: 59,227,152 (GRCm39) |
V2174M |
probably damaging |
Het |
| Kcnu1 |
T |
C |
8: 26,352,445 (GRCm39) |
L204P |
probably damaging |
Het |
| Kdm7a |
T |
C |
6: 39,125,911 (GRCm39) |
E628G |
probably benign |
Het |
| Klhl36 |
T |
C |
8: 120,601,124 (GRCm39) |
M381T |
probably damaging |
Het |
| Kpna3 |
A |
T |
14: 61,605,624 (GRCm39) |
Y474N |
probably damaging |
Het |
| Lsm8 |
G |
T |
6: 18,849,604 (GRCm39) |
|
probably benign |
Het |
| Mapk8 |
T |
C |
14: 33,104,177 (GRCm39) |
D413G |
probably damaging |
Het |
| Mbd2 |
T |
A |
18: 70,751,050 (GRCm39) |
C362S |
probably damaging |
Het |
| Mex3b |
A |
G |
7: 82,519,238 (GRCm39) |
R518G |
probably benign |
Het |
| Mical1 |
T |
C |
10: 41,357,866 (GRCm39) |
|
probably benign |
Het |
| Myo18a |
T |
C |
11: 77,748,613 (GRCm39) |
S1996P |
probably damaging |
Het |
| Or11g7 |
A |
G |
14: 50,690,827 (GRCm39) |
Y106C |
probably damaging |
Het |
| Or11h4b |
C |
G |
14: 50,918,507 (GRCm39) |
E195Q |
probably benign |
Het |
| Or1o2 |
T |
G |
17: 37,542,739 (GRCm39) |
H174P |
possibly damaging |
Het |
| Otop2 |
T |
A |
11: 115,220,671 (GRCm39) |
C504S |
probably benign |
Het |
| Pkhd1 |
T |
A |
1: 20,279,501 (GRCm39) |
H2939L |
probably benign |
Het |
| Pkhd1 |
C |
T |
1: 20,633,910 (GRCm39) |
V542M |
probably benign |
Het |
| Pkhd1l1 |
C |
T |
15: 44,455,302 (GRCm39) |
T4021I |
probably benign |
Het |
| Prr36 |
T |
C |
8: 4,263,409 (GRCm39) |
|
probably benign |
Het |
| Ptchd4 |
A |
T |
17: 42,813,650 (GRCm39) |
Y517F |
probably damaging |
Het |
| Pth1r |
A |
G |
9: 110,571,300 (GRCm39) |
M1T |
probably null |
Het |
| Rdx |
C |
A |
9: 51,978,680 (GRCm39) |
L163M |
probably damaging |
Het |
| Reep6 |
A |
G |
10: 80,169,648 (GRCm39) |
Y112C |
probably damaging |
Het |
| Rpp21 |
A |
G |
17: 36,568,611 (GRCm39) |
|
probably benign |
Het |
| Sacs |
T |
A |
14: 61,451,393 (GRCm39) |
C4480S |
probably damaging |
Het |
| Slc15a1 |
G |
A |
14: 121,703,574 (GRCm39) |
T512I |
probably benign |
Het |
| Slc22a22 |
A |
T |
15: 57,119,962 (GRCm39) |
C170* |
probably null |
Het |
| Slc26a2 |
C |
T |
18: 61,331,904 (GRCm39) |
R509K |
probably benign |
Het |
| Slc4a10 |
A |
G |
2: 62,147,786 (GRCm39) |
|
probably benign |
Het |
| Stc1 |
A |
T |
14: 69,266,834 (GRCm39) |
|
probably benign |
Het |
| Tbc1d32 |
T |
A |
10: 56,100,676 (GRCm39) |
T101S |
probably benign |
Het |
| Tsc2 |
T |
C |
17: 24,850,990 (GRCm39) |
T23A |
probably benign |
Het |
| Vmn1r52 |
T |
G |
6: 90,156,219 (GRCm39) |
F174L |
probably benign |
Het |
| Zfp972 |
G |
A |
2: 177,563,250 (GRCm39) |
Q56* |
probably null |
Het |
| Zfp982 |
A |
G |
4: 147,597,150 (GRCm39) |
K169R |
probably benign |
Het |
| Zfpl1 |
A |
G |
19: 6,131,170 (GRCm39) |
L274P |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTGAACCCAATCATCTCCTGA -3'
(R):5'- TCCTGTGTCTTTAAACTGTAACTCT -3'
Sequencing Primer
(F):5'- TTCACAAAGTATAACCCATGGTCTC -3'
(R):5'- CTGCACTTCCTACAGCTA -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation