Incidental Mutation 'IGL02984:Epc2'
| ID |
453256 |
| 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 # |
IGL02984 (G1)
|
| Quality Score |
58 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
49341498-49441954 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 49418866 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 225
(K225E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089758
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092123]
[ENSMUST00000152485]
|
| AlphaFold |
Q8C0I4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092123
AA Change: K225E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000089758
Gene: ENSMUSG00000069495
AA Change: K225E
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152485
|
| SMART Domains |
Protein: ENSMUSP00000119134
Gene: ENSMUSG00000069495
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
150 |
171 |
N/A |
INTRINSIC |
|
low complexity region
|
190 |
204 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.2147 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
All alleles(45) : Targeted(3) Gene trapped(42)
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
T |
A |
5: 88,120,662 (GRCm39) |
I473N |
probably damaging |
Het |
| 4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
| A530064D06Rik |
T |
C |
17: 48,470,448 (GRCm39) |
I178V |
probably benign |
Het |
| Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
| Aldh1l2 |
G |
A |
10: 83,363,199 (GRCm39) |
P55S |
probably damaging |
Het |
| Bglap3 |
T |
C |
3: 88,276,098 (GRCm39) |
T85A |
possibly damaging |
Het |
| Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
| Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
| Csrnp3 |
A |
G |
2: 65,852,553 (GRCm39) |
D315G |
probably benign |
Het |
| Dclk3 |
T |
C |
9: 111,317,643 (GRCm39) |
Y760H |
probably damaging |
Het |
| Eef1akmt2 |
A |
G |
7: 132,438,935 (GRCm39) |
*52R |
probably null |
Het |
| Fcna |
G |
C |
2: 25,520,693 (GRCm39) |
|
probably benign |
Het |
| Foxi2 |
C |
T |
7: 135,012,127 (GRCm39) |
T5M |
possibly damaging |
Het |
| Frmd4b |
T |
A |
6: 97,273,221 (GRCm39) |
T670S |
probably damaging |
Het |
| Gm14137 |
G |
T |
2: 119,005,961 (GRCm39) |
E173D |
probably damaging |
Het |
| Kif12 |
GGGGC |
GGGGCCTCCACCCGGCGGGC |
4: 63,089,660 (GRCm39) |
|
probably benign |
Het |
| Mfsd4b3-ps |
G |
A |
10: 39,823,184 (GRCm39) |
|
probably benign |
Het |
| Mlst8 |
A |
G |
17: 24,695,127 (GRCm39) |
F252S |
probably damaging |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Mogs |
A |
G |
6: 83,094,296 (GRCm39) |
K371R |
probably benign |
Het |
| Nsun2 |
T |
C |
13: 69,691,727 (GRCm39) |
|
probably benign |
Het |
| Otog |
T |
A |
7: 45,954,932 (GRCm39) |
C2702S |
probably damaging |
Het |
| Plekhg4 |
A |
G |
8: 106,107,020 (GRCm39) |
E905G |
probably damaging |
Het |
| Rtn4rl1 |
T |
C |
11: 75,156,087 (GRCm39) |
V173A |
probably benign |
Het |
| Sall3 |
T |
C |
18: 81,016,665 (GRCm39) |
E421G |
probably benign |
Het |
| Setd6 |
G |
A |
8: 96,442,903 (GRCm39) |
|
probably null |
Het |
| Sh3tc1 |
T |
C |
5: 35,871,403 (GRCm39) |
|
probably null |
Het |
| Slc35f5 |
T |
A |
1: 125,490,250 (GRCm39) |
Y71N |
probably benign |
Het |
| Snx1 |
A |
G |
9: 65,996,390 (GRCm39) |
|
probably benign |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Sspo |
T |
C |
6: 48,472,089 (GRCm39) |
V792A |
probably benign |
Het |
| Sufu |
C |
A |
19: 46,462,038 (GRCm39) |
D350E |
probably benign |
Het |
| Trav18 |
C |
A |
14: 54,069,026 (GRCm39) |
Q23K |
probably damaging |
Het |
| Ugt1a1 |
AT |
A |
1: 88,140,093 (GRCm39) |
|
probably null |
Het |
| Usp17le |
T |
A |
7: 104,418,311 (GRCm39) |
H277L |
probably benign |
Het |
| Wdsub1 |
A |
G |
2: 59,707,173 (GRCm39) |
S20P |
probably damaging |
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 |
|
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 |
|
R1269:Epc2
|
UTSW |
2 |
49,412,588 (GRCm39) |
missense |
probably benign |
0.38 |
|
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'- TCTTTCTGTGCCAATAGTTATCAGC -3'
(R):5'- TGTCACAAAACCTGGCTAGCC -3'
Sequencing Primer
(F):5'- GTGCCAATAGTTATCAGCATTTTTCC -3'
(R):5'- CCAGCCCTCGTAGTGTGAAAG -3'
|
| Posted On |
2017-02-01 |
Incidental Mutation