Incidental Mutation 'IGL01921:Epc2'
ID |
180099 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL01921
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
49341498-49441954 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 49422209 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 368
(Y368N)
|
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: Y368N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000089758 Gene: ENSMUSG00000069495 AA Change: Y368N
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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 |
Adam34l |
C |
A |
8: 44,078,548 (GRCm39) |
V559L |
probably damaging |
Het |
Agtpbp1 |
T |
C |
13: 59,660,297 (GRCm39) |
T310A |
possibly damaging |
Het |
Ccdc102a |
T |
C |
8: 95,640,019 (GRCm39) |
T92A |
probably damaging |
Het |
Ciao1 |
C |
T |
2: 127,084,755 (GRCm39) |
V328I |
probably benign |
Het |
Col12a1 |
T |
A |
9: 79,557,299 (GRCm39) |
Q1943L |
possibly damaging |
Het |
Diaph1 |
T |
C |
18: 37,989,261 (GRCm39) |
D898G |
possibly damaging |
Het |
Dio3 |
A |
T |
12: 110,245,789 (GRCm39) |
T42S |
possibly damaging |
Het |
Dnah8 |
T |
A |
17: 30,955,115 (GRCm39) |
I2048N |
probably benign |
Het |
Egr2 |
T |
A |
10: 67,376,208 (GRCm39) |
|
probably null |
Het |
Furin |
A |
G |
7: 80,045,702 (GRCm39) |
|
probably benign |
Het |
Gga1 |
T |
C |
15: 78,777,995 (GRCm39) |
M620T |
possibly damaging |
Het |
Gm21976 |
T |
A |
13: 98,441,829 (GRCm39) |
Y45* |
probably null |
Het |
Gpn1 |
T |
C |
5: 31,656,612 (GRCm39) |
V105A |
probably damaging |
Het |
Hoxb8 |
A |
T |
11: 96,175,181 (GRCm39) |
N206I |
probably damaging |
Het |
Kif15 |
T |
A |
9: 122,808,569 (GRCm39) |
L67Q |
probably damaging |
Het |
Krt40 |
T |
A |
11: 99,433,989 (GRCm39) |
|
probably benign |
Het |
Mat1a |
T |
C |
14: 40,836,292 (GRCm39) |
|
probably benign |
Het |
Mkrn1 |
T |
C |
6: 39,382,847 (GRCm39) |
D99G |
possibly damaging |
Het |
Plxnb2 |
T |
C |
15: 89,048,474 (GRCm39) |
Y645C |
possibly damaging |
Het |
Ppp1r13b |
A |
G |
12: 111,799,671 (GRCm39) |
V702A |
probably benign |
Het |
Ppp4r4 |
G |
T |
12: 103,542,569 (GRCm39) |
M1I |
probably null |
Het |
Prss21 |
T |
A |
17: 24,091,414 (GRCm39) |
M217K |
possibly damaging |
Het |
R3hcc1l |
A |
G |
19: 42,552,220 (GRCm39) |
S406G |
possibly damaging |
Het |
Rfesd |
T |
C |
13: 76,156,385 (GRCm39) |
E7G |
probably benign |
Het |
Ripk4 |
T |
C |
16: 97,544,565 (GRCm39) |
E694G |
possibly damaging |
Het |
Rlf |
T |
C |
4: 121,003,943 (GRCm39) |
D1679G |
probably damaging |
Het |
Ryr2 |
C |
T |
13: 11,569,436 (GRCm39) |
C4956Y |
possibly damaging |
Het |
Scart1 |
G |
T |
7: 139,808,632 (GRCm39) |
E848* |
probably null |
Het |
Uri1 |
T |
A |
7: 37,681,072 (GRCm39) |
K111* |
probably null |
Het |
Usf1 |
A |
G |
1: 171,244,424 (GRCm39) |
E108G |
possibly damaging |
Het |
Vmn1r71 |
C |
A |
7: 10,482,199 (GRCm39) |
R163L |
probably benign |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r86 |
T |
C |
10: 130,291,610 (GRCm39) |
T52A |
probably benign |
Het |
Washc5 |
A |
T |
15: 59,213,958 (GRCm39) |
|
probably null |
Het |
Zfp583 |
T |
C |
7: 6,328,569 (GRCm39) |
T7A |
possibly damaging |
Het |
Zim1 |
T |
G |
7: 6,685,184 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Epc2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2014-05-07 |