Incidental Mutation 'R1269:Epc2'
| ID |
151234 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epc2
|
| Ensembl Gene |
ENSMUSG00000069495 |
| Gene Name |
enhancer of polycomb homolog 2 |
| Synonyms |
D2Ertd694e |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1269 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
49341498-49441954 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 49412588 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 189
(S189T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089758
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092123]
|
| AlphaFold |
Q8C0I4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092123
AA Change: S189T
PolyPhen 2
Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000089758
Gene: ENSMUSG00000069495
AA Change: S189T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EPL1
|
7 |
149 |
6.5e-18 |
PFAM |
|
low complexity region
|
334 |
342 |
N/A |
INTRINSIC |
|
low complexity region
|
445 |
466 |
N/A |
INTRINSIC |
|
low complexity region
|
485 |
499 |
N/A |
INTRINSIC |
|
low complexity region
|
553 |
564 |
N/A |
INTRINSIC |
|
Pfam:E_Pc_C
|
578 |
808 |
2.1e-70 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(45) : Targeted(3) Gene trapped(42)
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
C |
T |
11: 94,248,210 (GRCm39) |
R1129Q |
probably damaging |
Het |
| Brd8 |
C |
T |
18: 34,742,857 (GRCm39) |
|
probably null |
Het |
| Ccdc9b |
C |
T |
2: 118,591,871 (GRCm39) |
E90K |
possibly damaging |
Het |
| Dnah5 |
G |
A |
15: 28,238,657 (GRCm39) |
V400M |
probably damaging |
Het |
| Inpp4a |
T |
C |
1: 37,428,823 (GRCm39) |
S83P |
probably benign |
Het |
| Ints2 |
C |
T |
11: 86,123,911 (GRCm39) |
G626R |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,532,280 (GRCm39) |
Q118R |
possibly damaging |
Het |
| Mbtps1 |
T |
C |
8: 120,247,016 (GRCm39) |
D809G |
probably damaging |
Het |
| Nbea |
T |
C |
3: 55,912,202 (GRCm39) |
E1195G |
probably benign |
Het |
| Nfasc |
G |
T |
1: 132,538,526 (GRCm39) |
P454T |
probably damaging |
Het |
| Nlrp4e |
T |
A |
7: 23,052,763 (GRCm39) |
I894N |
possibly damaging |
Het |
| Picalm |
A |
T |
7: 89,814,757 (GRCm39) |
R129* |
probably null |
Het |
| Plekhg3 |
T |
C |
12: 76,607,243 (GRCm39) |
I101T |
probably damaging |
Het |
| Pstpip1 |
A |
G |
9: 56,021,590 (GRCm39) |
D38G |
probably damaging |
Het |
| Sec13 |
A |
G |
6: 113,714,956 (GRCm39) |
S3P |
probably damaging |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Sytl1 |
A |
T |
4: 132,983,426 (GRCm39) |
L370Q |
probably damaging |
Het |
| Tenm2 |
T |
A |
11: 35,899,185 (GRCm39) |
I2658F |
possibly damaging |
Het |
| Tmc5 |
A |
G |
7: 118,265,816 (GRCm39) |
M769V |
probably benign |
Het |
| Tspan8 |
A |
G |
10: 115,685,287 (GRCm39) |
I232V |
probably damaging |
Het |
| Wbp1 |
G |
A |
6: 83,096,584 (GRCm39) |
T156I |
probably benign |
Het |
| Wfikkn2 |
T |
C |
11: 94,129,301 (GRCm39) |
Y280C |
probably damaging |
Het |
| Xrcc6 |
A |
T |
15: 81,907,048 (GRCm39) |
Q123H |
possibly damaging |
Het |
| Zfp526 |
T |
C |
7: 24,923,788 (GRCm39) |
S16P |
probably benign |
Het |
|
| Other mutations in Epc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01921:Epc2
|
APN |
2 |
49,422,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02479:Epc2
|
APN |
2 |
49,422,147 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03342:Epc2
|
APN |
2 |
49,426,658 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02984:Epc2
|
UTSW |
2 |
49,418,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0014:Epc2
|
UTSW |
2 |
49,412,537 (GRCm39) |
nonsense |
probably null |
|
|
R0014:Epc2
|
UTSW |
2 |
49,412,537 (GRCm39) |
nonsense |
probably null |
|
|
R0360:Epc2
|
UTSW |
2 |
49,427,145 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0364:Epc2
|
UTSW |
2 |
49,427,145 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0401:Epc2
|
UTSW |
2 |
49,418,986 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1495:Epc2
|
UTSW |
2 |
49,426,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1573:Epc2
|
UTSW |
2 |
49,439,984 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1619:Epc2
|
UTSW |
2 |
49,439,990 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1721:Epc2
|
UTSW |
2 |
49,422,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1847:Epc2
|
UTSW |
2 |
49,422,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1867:Epc2
|
UTSW |
2 |
49,422,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2113:Epc2
|
UTSW |
2 |
49,422,235 (GRCm39) |
missense |
probably benign |
|
|
R2120:Epc2
|
UTSW |
2 |
49,437,621 (GRCm39) |
splice site |
probably benign |
|
|
R3840:Epc2
|
UTSW |
2 |
49,378,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3841:Epc2
|
UTSW |
2 |
49,378,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4366:Epc2
|
UTSW |
2 |
49,437,566 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4864:Epc2
|
UTSW |
2 |
49,427,177 (GRCm39) |
missense |
probably benign |
|
|
R5335:Epc2
|
UTSW |
2 |
49,403,242 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5639:Epc2
|
UTSW |
2 |
49,341,903 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5695:Epc2
|
UTSW |
2 |
49,437,619 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6259:Epc2
|
UTSW |
2 |
49,378,866 (GRCm39) |
splice site |
probably null |
|
|
R6420:Epc2
|
UTSW |
2 |
49,341,912 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6667:Epc2
|
UTSW |
2 |
49,412,681 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6788:Epc2
|
UTSW |
2 |
49,422,099 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7061:Epc2
|
UTSW |
2 |
49,425,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7672:Epc2
|
UTSW |
2 |
49,435,831 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8377:Epc2
|
UTSW |
2 |
49,412,527 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9397:Epc2
|
UTSW |
2 |
49,378,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF009:Epc2
|
UTSW |
2 |
49,422,249 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1176:Epc2
|
UTSW |
2 |
49,425,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAATAGACTTCCATCTTCACCTGCCG -3'
(R):5'- TGATCAGACTGCTACAGCAGGCTATAC -3'
Sequencing Primer
(F):5'- CAGTGGATCACATTTTCTGCG -3'
(R):5'- ATCAGGTTAGGTCATCAGTGTCAC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation