Incidental Mutation 'IGL02589:Ect2l'
| ID |
299682 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ect2l
|
| Ensembl Gene |
ENSMUSG00000071392 |
| Gene Name |
epithelial cell transforming sequence 2 oncogene-like |
| Synonyms |
C330021H03Rik, Gm10331 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.132)
|
| Stock # |
IGL02589
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
18004651-18086638 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 18016342 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147170
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095817]
[ENSMUST00000207827]
[ENSMUST00000208948]
[ENSMUST00000209178]
|
| AlphaFold |
A0A140LIP2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095817
|
| SMART Domains |
Protein: ENSMUSP00000093497
Gene: ENSMUSG00000071392
| 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 benign
Transcript: ENSMUST00000207827
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208948
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209178
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215232
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216336
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
G |
6: 128,558,463 (GRCm39) |
I5L |
probably benign |
Het |
| Ang6 |
A |
G |
14: 44,239,419 (GRCm39) |
I103T |
possibly damaging |
Het |
| Arhgdib |
A |
G |
6: 136,910,576 (GRCm39) |
|
probably benign |
Het |
| Atp13a2 |
C |
T |
4: 140,733,722 (GRCm39) |
T1037M |
probably damaging |
Het |
| Bptf |
T |
C |
11: 107,002,357 (GRCm39) |
N252D |
possibly damaging |
Het |
| Capn2 |
T |
C |
1: 182,311,913 (GRCm39) |
Y387C |
probably damaging |
Het |
| Cdc27 |
T |
G |
11: 104,396,470 (GRCm39) |
D817A |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cntnap3 |
T |
G |
13: 64,940,244 (GRCm39) |
I318L |
probably benign |
Het |
| Cog6 |
A |
T |
3: 52,914,691 (GRCm39) |
L255Q |
probably damaging |
Het |
| Ercc5 |
T |
C |
1: 44,203,209 (GRCm39) |
V282A |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,917,372 (GRCm39) |
D3464G |
probably damaging |
Het |
| Gabrg1 |
A |
T |
5: 70,999,495 (GRCm39) |
L18* |
probably null |
Het |
| Ggcx |
T |
C |
6: 72,406,131 (GRCm39) |
Y586H |
probably damaging |
Het |
| Gm5796 |
A |
T |
14: 15,379,030 (GRCm39) |
K24* |
probably null |
Het |
| Gnb4 |
C |
T |
3: 32,643,998 (GRCm39) |
V187M |
probably damaging |
Het |
| Gpt2 |
C |
T |
8: 86,242,795 (GRCm39) |
Q276* |
probably null |
Het |
| Idnk |
G |
T |
13: 58,311,239 (GRCm39) |
|
probably benign |
Het |
| Igkv3-9 |
A |
G |
6: 70,565,683 (GRCm39) |
D94G |
possibly damaging |
Het |
| Ipo8 |
C |
A |
6: 148,711,405 (GRCm39) |
L294F |
probably damaging |
Het |
| Itgad |
A |
T |
7: 127,780,883 (GRCm39) |
D157V |
probably damaging |
Het |
| Kcnab3 |
A |
T |
11: 69,222,928 (GRCm39) |
I392L |
probably benign |
Het |
| Kdm3b |
A |
G |
18: 34,945,471 (GRCm39) |
S761G |
possibly damaging |
Het |
| Kif21a |
G |
A |
15: 90,869,489 (GRCm39) |
T454M |
probably damaging |
Het |
| Lta4h |
A |
G |
10: 93,310,793 (GRCm39) |
N441S |
probably benign |
Het |
| Man2a1 |
A |
G |
17: 64,986,773 (GRCm39) |
E595G |
probably benign |
Het |
| Micos13 |
T |
C |
17: 56,915,856 (GRCm39) |
E66G |
probably benign |
Het |
| Mvd |
T |
C |
8: 123,164,773 (GRCm39) |
|
probably benign |
Het |
| Notch2 |
A |
G |
3: 98,011,663 (GRCm39) |
|
probably null |
Het |
| Phf20l1 |
G |
T |
15: 66,487,481 (GRCm39) |
|
probably benign |
Het |
| Rdm1 |
A |
G |
11: 101,518,831 (GRCm39) |
S13G |
possibly damaging |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Scn4a |
G |
T |
11: 106,218,958 (GRCm39) |
D953E |
probably benign |
Het |
| Sh2b1 |
A |
G |
7: 126,068,440 (GRCm39) |
I457T |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tagap |
C |
A |
17: 8,152,504 (GRCm39) |
T563K |
possibly damaging |
Het |
| Ugt1a7c |
T |
C |
1: 88,023,360 (GRCm39) |
I173T |
probably benign |
Het |
| Unc79 |
C |
T |
12: 103,139,755 (GRCm39) |
A2370V |
probably damaging |
Het |
| Vmn2r102 |
T |
A |
17: 19,901,480 (GRCm39) |
C536S |
probably damaging |
Het |
| Vmn2r53 |
G |
A |
7: 12,315,872 (GRCm39) |
T649I |
possibly damaging |
Het |
| Whrn |
G |
A |
4: 63,336,334 (GRCm39) |
Q301* |
probably null |
Het |
| Zfp1007 |
T |
A |
5: 109,826,386 (GRCm39) |
H62L |
possibly damaging |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
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 |
|
|
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 |
|
R3886:Ect2l
|
UTSW |
10 |
18,044,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation