Incidental Mutation 'R3841:Epc2'
| ID |
277143 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epc2
|
| Ensembl Gene |
ENSMUSG00000069495 |
| Gene Name |
enhancer of polycomb homolog 2 |
| Synonyms |
D2Ertd694e |
| MMRRC Submission |
040781-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3841 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
49341498-49441954 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 49378750 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 68
(K68R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089758
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092123]
|
| AlphaFold |
Q8C0I4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092123
AA Change: K68R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000089758
Gene: ENSMUSG00000069495
AA Change: K68R
| 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 |
0.1827 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
98% (43/44) |
| Allele List at MGI |
All alleles(45) : Targeted(3) Gene trapped(42)
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
A |
T |
18: 6,620,104 (GRCm39) |
K11N |
probably benign |
Het |
| Atp8b3 |
A |
G |
10: 80,365,540 (GRCm39) |
F405L |
possibly damaging |
Het |
| BC035947 |
G |
T |
1: 78,474,482 (GRCm39) |
N683K |
probably benign |
Het |
| Bmper |
T |
A |
9: 23,384,727 (GRCm39) |
|
probably null |
Het |
| Btnl7-ps |
A |
G |
17: 34,761,550 (GRCm39) |
|
noncoding transcript |
Het |
| Cmya5 |
A |
G |
13: 93,231,140 (GRCm39) |
V1316A |
probably damaging |
Het |
| Cracd |
A |
T |
5: 77,006,858 (GRCm39) |
Q1073L |
unknown |
Het |
| Dgcr6 |
C |
A |
16: 17,888,077 (GRCm39) |
Y200* |
probably null |
Het |
| Dsp |
A |
C |
13: 38,381,681 (GRCm39) |
I2210L |
probably benign |
Het |
| Eef1e1 |
G |
A |
13: 38,840,167 (GRCm39) |
T46I |
probably damaging |
Het |
| F11r |
G |
T |
1: 171,288,457 (GRCm39) |
R100L |
probably damaging |
Het |
| Fam83c |
C |
T |
2: 155,676,668 (GRCm39) |
R34H |
probably benign |
Het |
| Fbxw25 |
A |
T |
9: 109,491,202 (GRCm39) |
Y105* |
probably null |
Het |
| Ggt1 |
T |
A |
10: 75,417,219 (GRCm39) |
Y5* |
probably null |
Het |
| Hipk2 |
T |
C |
6: 38,795,861 (GRCm39) |
E136G |
probably damaging |
Het |
| Hsph1 |
T |
A |
5: 149,544,180 (GRCm39) |
|
probably null |
Het |
| Impdh1 |
A |
G |
6: 29,202,768 (GRCm39) |
S421P |
probably damaging |
Het |
| Jhy |
T |
A |
9: 40,856,142 (GRCm39) |
E115V |
probably benign |
Het |
| Kmt2a |
T |
C |
9: 44,742,588 (GRCm39) |
|
probably benign |
Het |
| Ldlrap1 |
T |
C |
4: 134,477,747 (GRCm39) |
T159A |
probably damaging |
Het |
| Lrrc4c |
A |
G |
2: 97,460,537 (GRCm39) |
T388A |
probably damaging |
Het |
| Map3k10 |
C |
A |
7: 27,357,789 (GRCm39) |
C663F |
possibly damaging |
Het |
| Me3 |
A |
T |
7: 89,435,701 (GRCm39) |
N179Y |
possibly damaging |
Het |
| Medag |
T |
A |
5: 149,350,888 (GRCm39) |
I121N |
probably damaging |
Het |
| Mocos |
C |
T |
18: 24,809,681 (GRCm39) |
A428V |
probably damaging |
Het |
| Mok |
C |
T |
12: 110,781,591 (GRCm39) |
V59M |
probably benign |
Het |
| Neb |
C |
A |
2: 52,097,672 (GRCm39) |
|
probably null |
Het |
| Nr2c2 |
C |
T |
6: 92,140,119 (GRCm39) |
R464W |
probably damaging |
Het |
| Or52s1 |
G |
A |
7: 102,861,900 (GRCm39) |
G267R |
probably damaging |
Het |
| Or6c35 |
A |
G |
10: 129,169,202 (GRCm39) |
I151V |
probably benign |
Het |
| Otud1 |
G |
T |
2: 19,663,554 (GRCm39) |
E228* |
probably null |
Het |
| Parp4 |
A |
T |
14: 56,825,235 (GRCm39) |
N120Y |
probably damaging |
Het |
| Ptprb |
T |
C |
10: 116,182,887 (GRCm39) |
V1521A |
possibly damaging |
Het |
| Rap1gap |
T |
C |
4: 137,444,758 (GRCm39) |
F182S |
probably damaging |
Het |
| Rcan2 |
A |
G |
17: 44,347,870 (GRCm39) |
K193R |
probably benign |
Het |
| Rdh19 |
A |
T |
10: 127,692,755 (GRCm39) |
M141L |
probably benign |
Het |
| Selenok |
C |
T |
14: 29,695,337 (GRCm39) |
R72* |
probably null |
Het |
| Tbpl1 |
A |
G |
10: 22,587,807 (GRCm39) |
|
probably benign |
Het |
| Tnxb |
A |
G |
17: 34,917,897 (GRCm39) |
E2270G |
possibly damaging |
Het |
| Tulp1 |
A |
G |
17: 28,572,689 (GRCm39) |
V489A |
probably damaging |
Het |
| Utp20 |
A |
T |
10: 88,611,065 (GRCm39) |
|
probably benign |
Het |
| Zfp617 |
G |
A |
8: 72,685,961 (GRCm39) |
G97E |
probably damaging |
Het |
| Zfp773 |
A |
G |
7: 7,135,390 (GRCm39) |
V402A |
possibly 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 |
|
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'- GCGAAGGAGAACTATTCCAAATCG -3'
(R):5'- CAAAGTGATCTCCAAGCTCAAATG -3'
Sequencing Primer
(F):5'- GAGAACTATTCCAAATCGATTTTTGC -3'
(R):5'- TGATCTCCAAGCTCAAATGAAAATAC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation