Incidental Mutation 'R3886:Ect2l'
| ID |
309659 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ect2l
|
| Ensembl Gene |
ENSMUSG00000071392 |
| Gene Name |
epithelial cell transforming sequence 2 oncogene-like |
| Synonyms |
C330021H03Rik, Gm10331 |
| MMRRC Submission |
040798-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.132)
|
| Stock # |
R3886 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
18004651-18086638 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 18044206 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 310
(V310M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146490
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095817]
[ENSMUST00000207827]
[ENSMUST00000208948]
[ENSMUST00000209178]
|
| AlphaFold |
A0A140LIP2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095817
AA Change: V310M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000093497
Gene: ENSMUSG00000071392
AA Change: V310M
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
93 |
133 |
3.5e-4 |
SMART |
|
Pfam:DUF4347
|
297 |
468 |
1.4e-11 |
PFAM |
|
RhoGEF
|
578 |
761 |
6.3e-46 |
SMART |
|
Blast:PH
|
793 |
909 |
6e-49 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207827
AA Change: V310M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208948
AA Change: V310M
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209178
AA Change: V218M
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933407L21Rik |
T |
A |
1: 85,868,273 (GRCm39) |
|
probably null |
Het |
| Adam17 |
G |
A |
12: 21,375,588 (GRCm39) |
R744C |
probably damaging |
Het |
| Adss2 |
A |
G |
1: 177,595,335 (GRCm39) |
Y402H |
probably damaging |
Het |
| Ccdc73 |
A |
T |
2: 104,821,688 (GRCm39) |
T546S |
possibly damaging |
Het |
| Cd22 |
T |
C |
7: 30,569,532 (GRCm39) |
D354G |
possibly damaging |
Het |
| Chchd6 |
T |
C |
6: 89,444,433 (GRCm39) |
E183G |
probably damaging |
Het |
| Col6a5 |
A |
G |
9: 105,808,129 (GRCm39) |
L973P |
unknown |
Het |
| Cp |
T |
C |
3: 20,043,275 (GRCm39) |
L1021P |
probably damaging |
Het |
| Cplane1 |
T |
A |
15: 8,201,289 (GRCm39) |
V22E |
probably damaging |
Het |
| Cps1 |
C |
A |
1: 67,204,659 (GRCm39) |
T493K |
possibly damaging |
Het |
| D630045J12Rik |
A |
G |
6: 38,119,633 (GRCm39) |
V1703A |
possibly damaging |
Het |
| Dennd1a |
T |
C |
2: 37,748,089 (GRCm39) |
N376S |
possibly damaging |
Het |
| Dmxl1 |
T |
A |
18: 50,011,326 (GRCm39) |
M1161K |
probably damaging |
Het |
| Fn1 |
T |
C |
1: 71,679,465 (GRCm39) |
Y511C |
probably damaging |
Het |
| Foxd2 |
T |
C |
4: 114,765,483 (GRCm39) |
H179R |
unknown |
Het |
| Gm8674 |
T |
C |
13: 50,056,199 (GRCm39) |
|
noncoding transcript |
Het |
| Ice1 |
T |
C |
13: 70,753,489 (GRCm39) |
T866A |
probably benign |
Het |
| Jade2 |
C |
T |
11: 51,721,326 (GRCm39) |
V201I |
possibly damaging |
Het |
| Kcnb2 |
T |
C |
1: 15,780,639 (GRCm39) |
S504P |
probably damaging |
Het |
| Kcng4 |
T |
C |
8: 120,359,986 (GRCm39) |
K130R |
probably benign |
Het |
| Lcor |
T |
A |
19: 41,546,795 (GRCm39) |
S126R |
probably damaging |
Het |
| Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
| Lrch2 |
C |
G |
X: 146,256,003 (GRCm39) |
A437P |
probably damaging |
Het |
| Lrrk1 |
C |
T |
7: 65,942,112 (GRCm39) |
V709I |
probably damaging |
Het |
| Mdh1 |
A |
G |
11: 21,509,832 (GRCm39) |
V181A |
probably damaging |
Het |
| Or10g7 |
A |
G |
9: 39,905,835 (GRCm39) |
H243R |
probably damaging |
Het |
| Or4a71 |
T |
A |
2: 89,358,076 (GRCm39) |
H226L |
possibly damaging |
Het |
| Ppp1r3a |
A |
C |
6: 14,719,911 (GRCm39) |
D334E |
possibly damaging |
Het |
| Pramel17 |
T |
C |
4: 101,692,920 (GRCm39) |
K360R |
probably benign |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rbm45 |
A |
G |
2: 76,205,768 (GRCm39) |
S207G |
probably benign |
Het |
| Relch |
A |
G |
1: 105,619,938 (GRCm39) |
N331S |
probably benign |
Het |
| Robo3 |
G |
A |
9: 37,333,477 (GRCm39) |
Q723* |
probably null |
Het |
| Rreb1 |
G |
A |
13: 38,082,482 (GRCm39) |
|
probably null |
Het |
| Slc35f2 |
T |
A |
9: 53,724,241 (GRCm39) |
S372T |
probably benign |
Het |
| Slitrk5 |
T |
A |
14: 111,917,229 (GRCm39) |
C284* |
probably null |
Het |
| Snapc4 |
G |
A |
2: 26,255,510 (GRCm39) |
Q1005* |
probably null |
Het |
| Tent4b |
C |
A |
8: 88,927,043 (GRCm39) |
A151E |
probably benign |
Het |
| Tnxb |
A |
G |
17: 34,937,885 (GRCm39) |
D3896G |
probably damaging |
Het |
| Tti1 |
A |
G |
2: 157,850,870 (GRCm39) |
V123A |
possibly damaging |
Het |
| Usp1 |
T |
C |
4: 98,817,973 (GRCm39) |
C147R |
probably damaging |
Het |
| Vill |
A |
G |
9: 118,895,782 (GRCm39) |
N106S |
probably benign |
Het |
|
| Other mutations in Ect2l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01555:Ect2l
|
APN |
10 |
18,006,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01773:Ect2l
|
APN |
10 |
18,037,252 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02293:Ect2l
|
APN |
10 |
18,016,259 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02589:Ect2l
|
APN |
10 |
18,016,342 (GRCm39) |
splice site |
probably benign |
|
|
IGL02866:Ect2l
|
APN |
10 |
18,035,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0037:Ect2l
|
UTSW |
10 |
18,018,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0526:Ect2l
|
UTSW |
10 |
18,075,688 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0628:Ect2l
|
UTSW |
10 |
18,018,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0839:Ect2l
|
UTSW |
10 |
18,017,652 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0948:Ect2l
|
UTSW |
10 |
18,016,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1103:Ect2l
|
UTSW |
10 |
18,016,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1238:Ect2l
|
UTSW |
10 |
18,018,852 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1326:Ect2l
|
UTSW |
10 |
18,041,290 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1327:Ect2l
|
UTSW |
10 |
18,041,290 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1544:Ect2l
|
UTSW |
10 |
18,044,182 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1848:Ect2l
|
UTSW |
10 |
18,075,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1921:Ect2l
|
UTSW |
10 |
18,018,752 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1938:Ect2l
|
UTSW |
10 |
18,020,383 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2081:Ect2l
|
UTSW |
10 |
18,041,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3551:Ect2l
|
UTSW |
10 |
18,039,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3608:Ect2l
|
UTSW |
10 |
18,018,688 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4120:Ect2l
|
UTSW |
10 |
18,006,466 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4348:Ect2l
|
UTSW |
10 |
18,012,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4992:Ect2l
|
UTSW |
10 |
18,048,477 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5053:Ect2l
|
UTSW |
10 |
18,016,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5144:Ect2l
|
UTSW |
10 |
18,020,325 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5654:Ect2l
|
UTSW |
10 |
18,018,810 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5779:Ect2l
|
UTSW |
10 |
18,039,186 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5814:Ect2l
|
UTSW |
10 |
18,075,757 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6053:Ect2l
|
UTSW |
10 |
18,017,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6057:Ect2l
|
UTSW |
10 |
18,037,250 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6244:Ect2l
|
UTSW |
10 |
18,016,145 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6720:Ect2l
|
UTSW |
10 |
18,016,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6817:Ect2l
|
UTSW |
10 |
18,049,807 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6894:Ect2l
|
UTSW |
10 |
18,045,128 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7199:Ect2l
|
UTSW |
10 |
18,004,894 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7313:Ect2l
|
UTSW |
10 |
18,044,149 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7404:Ect2l
|
UTSW |
10 |
18,035,529 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7482:Ect2l
|
UTSW |
10 |
18,044,202 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7751:Ect2l
|
UTSW |
10 |
18,045,153 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7752:Ect2l
|
UTSW |
10 |
18,017,712 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7880:Ect2l
|
UTSW |
10 |
18,012,702 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7901:Ect2l
|
UTSW |
10 |
18,017,712 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8138:Ect2l
|
UTSW |
10 |
18,045,153 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8526:Ect2l
|
UTSW |
10 |
18,020,375 (GRCm39) |
missense |
probably benign |
0.37 |
|
R8870:Ect2l
|
UTSW |
10 |
18,014,608 (GRCm39) |
nonsense |
probably null |
|
|
R8885:Ect2l
|
UTSW |
10 |
18,048,583 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9015:Ect2l
|
UTSW |
10 |
18,039,148 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9040:Ect2l
|
UTSW |
10 |
18,077,098 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9195:Ect2l
|
UTSW |
10 |
18,018,836 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9335:Ect2l
|
UTSW |
10 |
18,077,032 (GRCm39) |
missense |
probably null |
1.00 |
|
R9496:Ect2l
|
UTSW |
10 |
18,004,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9659:Ect2l
|
UTSW |
10 |
18,041,347 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9712:Ect2l
|
UTSW |
10 |
18,044,182 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9788:Ect2l
|
UTSW |
10 |
18,041,347 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
X0018:Ect2l
|
UTSW |
10 |
18,006,400 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1177:Ect2l
|
UTSW |
10 |
18,048,420 (GRCm39) |
missense |
probably null |
0.71 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTGGATAAGCACTGTGGAC -3'
(R):5'- ACGGAGTTGCAAATGAACTTC -3'
Sequencing Primer
(F):5'- TAAGCACTGTGGACGCTCAG -3'
(R):5'- CTGGCAGGAGAAGTTTAGT -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation