Incidental Mutation 'R6420:Epc2'
| ID |
518137 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epc2
|
| Ensembl Gene |
ENSMUSG00000069495 |
| Gene Name |
enhancer of polycomb homolog 2 |
| Synonyms |
D2Ertd694e |
| MMRRC Submission |
044562-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6420 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
49341498-49441954 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 49341912 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 32
(V32A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089758
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092123]
|
| AlphaFold |
Q8C0I4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092123
AA Change: V32A
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000089758
Gene: ENSMUSG00000069495
AA Change: V32A
| 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 |
|
| Meta Mutation Damage Score |
0.1158 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (38/38) |
| Allele List at MGI |
All alleles(45) : Targeted(3) Gene trapped(42)
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530064D06Rik |
A |
T |
17: 48,473,566 (GRCm39) |
I117N |
probably damaging |
Het |
| Abca15 |
A |
G |
7: 119,996,351 (GRCm39) |
K1426E |
possibly damaging |
Het |
| Arhgef17 |
A |
G |
7: 100,579,269 (GRCm39) |
S560P |
probably damaging |
Het |
| Asb13 |
G |
A |
13: 3,693,574 (GRCm39) |
V111I |
probably damaging |
Het |
| Dhx16 |
A |
G |
17: 36,193,906 (GRCm39) |
E367G |
possibly damaging |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Hdlbp |
T |
C |
1: 93,358,726 (GRCm39) |
E275G |
probably damaging |
Het |
| Kdm7a |
T |
C |
6: 39,142,102 (GRCm39) |
D392G |
probably damaging |
Het |
| Lgmn |
T |
A |
12: 102,389,978 (GRCm39) |
R4* |
probably null |
Het |
| Lrrk2 |
C |
T |
15: 91,696,549 (GRCm39) |
R2446C |
probably benign |
Het |
| Map3k10 |
A |
G |
7: 27,362,709 (GRCm39) |
F459S |
probably damaging |
Het |
| Mup1 |
C |
G |
4: 60,457,758 (GRCm39) |
E31Q |
possibly damaging |
Het |
| Nckap1l |
G |
C |
15: 103,399,893 (GRCm39) |
G1025A |
possibly damaging |
Het |
| Or4d10 |
T |
G |
19: 12,051,324 (GRCm39) |
K224T |
probably benign |
Het |
| Or5b24 |
A |
C |
19: 12,912,584 (GRCm39) |
T161P |
probably damaging |
Het |
| Or8b39 |
T |
A |
9: 37,996,890 (GRCm39) |
S253T |
probably benign |
Het |
| Or8b41 |
T |
G |
9: 38,054,611 (GRCm39) |
L55R |
probably damaging |
Het |
| Or8k38 |
A |
T |
2: 86,488,510 (GRCm39) |
C97* |
probably null |
Het |
| Pik3r5 |
G |
A |
11: 68,366,250 (GRCm39) |
W42* |
probably null |
Het |
| Pkd1l2 |
C |
T |
8: 117,740,638 (GRCm39) |
C2153Y |
probably damaging |
Het |
| Rad1 |
T |
C |
15: 10,488,098 (GRCm39) |
V74A |
probably benign |
Het |
| Scara3 |
C |
T |
14: 66,175,701 (GRCm39) |
G22D |
possibly damaging |
Het |
| Scn1a |
A |
G |
2: 66,103,542 (GRCm39) |
I1906T |
probably damaging |
Het |
| Sema5b |
T |
A |
16: 35,483,516 (GRCm39) |
D1051E |
probably benign |
Het |
| Slc16a12 |
T |
C |
19: 34,650,097 (GRCm39) |
|
probably null |
Het |
| Slc25a23 |
T |
C |
17: 57,359,780 (GRCm39) |
I324V |
probably damaging |
Het |
| Sord |
A |
T |
2: 122,094,602 (GRCm39) |
K330M |
possibly damaging |
Het |
| Spag9 |
T |
C |
11: 93,977,128 (GRCm39) |
V78A |
probably damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Tnrc6a |
A |
G |
7: 122,770,297 (GRCm39) |
T696A |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,542,619 (GRCm39) |
Y33456H |
possibly damaging |
Het |
| Unc45a |
C |
G |
7: 79,989,400 (GRCm39) |
E23Q |
probably benign |
Het |
| Urb2 |
C |
T |
8: 124,773,938 (GRCm39) |
R1490W |
probably damaging |
Het |
| Zfp62 |
A |
T |
11: 49,107,340 (GRCm39) |
N477I |
probably damaging |
Het |
| Zfp846 |
T |
C |
9: 20,505,007 (GRCm39) |
L289P |
probably damaging |
Het |
| Zfp959 |
G |
A |
17: 56,205,094 (GRCm39) |
G377D |
probably damaging |
Het |
| Zswim3 |
G |
A |
2: 164,662,653 (GRCm39) |
V378M |
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 |
|
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 |
|
|
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'- ATCTAGAGTGTGGAAGCGGC -3'
(R):5'- AGCTAATCACAACACTGGGACG -3'
Sequencing Primer
(F):5'- GCGCTGCACTGAGGAAG -3'
(R):5'- ACGGGTTTACGCTACTCCG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation