Incidental Mutation 'R0839:Ect2l'
ID |
78114 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ect2l
|
Ensembl Gene |
ENSMUSG00000071392 |
Gene Name |
epithelial cell transforming sequence 2 oncogene-like |
Synonyms |
C330021H03Rik, Gm10331 |
MMRRC Submission |
039018-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.156)
|
Stock # |
R0839 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
18004651-18086638 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 18017652 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 659
(I659T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093497
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095817]
[ENSMUST00000207827]
[ENSMUST00000208948]
[ENSMUST00000209178]
|
AlphaFold |
A0A140LIP2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000095817
AA Change: I659T
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000093497 Gene: ENSMUSG00000071392 AA Change: I659T
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
AA Change: I659T
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208948
AA Change: I701T
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209178
AA Change: I609T
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215232
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216336
|
Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
G |
A |
3: 121,920,527 (GRCm39) |
V1083M |
probably damaging |
Het |
Aco2 |
A |
G |
15: 81,791,736 (GRCm39) |
|
probably null |
Het |
AI661453 |
A |
T |
17: 47,747,752 (GRCm39) |
Q8L |
probably null |
Het |
Ankrd42 |
T |
C |
7: 92,261,980 (GRCm39) |
D295G |
possibly damaging |
Het |
Ccdc73 |
A |
T |
2: 104,821,442 (GRCm39) |
I464L |
probably benign |
Het |
Cdc5l |
A |
C |
17: 45,704,073 (GRCm39) |
M717R |
probably benign |
Het |
Col4a1 |
G |
A |
8: 11,271,015 (GRCm39) |
P809S |
probably damaging |
Het |
Dctn1 |
T |
C |
6: 83,167,459 (GRCm39) |
M358T |
possibly damaging |
Het |
Dgkz |
A |
G |
2: 91,765,456 (GRCm39) |
S799P |
probably benign |
Het |
Dna2 |
T |
C |
10: 62,805,561 (GRCm39) |
C933R |
probably damaging |
Het |
Dock6 |
T |
C |
9: 21,729,188 (GRCm39) |
N1275S |
probably benign |
Het |
Ets1 |
T |
A |
9: 32,645,357 (GRCm39) |
Y201* |
probably null |
Het |
Gle1 |
T |
A |
2: 29,848,462 (GRCm39) |
C679S |
probably benign |
Het |
Gm10118 |
T |
G |
10: 63,762,643 (GRCm39) |
|
probably benign |
Het |
Guk1 |
G |
A |
11: 59,075,921 (GRCm39) |
R146C |
probably damaging |
Het |
H2-Q7 |
A |
G |
17: 35,658,688 (GRCm39) |
S109G |
probably damaging |
Het |
Igfn1 |
A |
G |
1: 135,882,418 (GRCm39) |
V2809A |
probably damaging |
Het |
Izumo1 |
T |
A |
7: 45,276,536 (GRCm39) |
D366E |
probably benign |
Het |
Kctd20 |
A |
T |
17: 29,176,872 (GRCm39) |
M1L |
possibly damaging |
Het |
Lct |
C |
T |
1: 128,214,346 (GRCm39) |
A1809T |
probably benign |
Het |
Manea |
T |
C |
4: 26,327,983 (GRCm39) |
I353V |
probably damaging |
Het |
Mybl2 |
T |
C |
2: 162,917,688 (GRCm39) |
Y65H |
probably benign |
Het |
Myh11 |
C |
T |
16: 14,021,042 (GRCm39) |
E1744K |
probably damaging |
Het |
Neb |
T |
C |
2: 52,167,560 (GRCm39) |
D1922G |
probably damaging |
Het |
Nepro |
C |
A |
16: 44,556,382 (GRCm39) |
D513E |
probably benign |
Het |
Nnt |
A |
T |
13: 119,531,192 (GRCm39) |
I185K |
possibly damaging |
Het |
Npat |
A |
T |
9: 53,456,480 (GRCm39) |
Q17L |
probably damaging |
Het |
Nup155 |
A |
G |
15: 8,175,071 (GRCm39) |
E956G |
possibly damaging |
Het |
Or1e35 |
T |
A |
11: 73,798,138 (GRCm39) |
Y60F |
probably damaging |
Het |
Or1x6 |
A |
G |
11: 50,939,254 (GRCm39) |
I107V |
probably benign |
Het |
Or2a14 |
T |
A |
6: 43,130,558 (GRCm39) |
F106L |
probably benign |
Het |
Or4q3 |
A |
G |
14: 50,583,545 (GRCm39) |
V118A |
probably damaging |
Het |
Or8g18 |
A |
T |
9: 39,149,146 (GRCm39) |
N191K |
possibly damaging |
Het |
Or8g4 |
A |
T |
9: 39,661,687 (GRCm39) |
I2L |
probably benign |
Het |
Or9e1 |
G |
A |
11: 58,732,478 (GRCm39) |
M179I |
probably benign |
Het |
Pah |
T |
C |
10: 87,357,924 (GRCm39) |
S16P |
probably damaging |
Het |
Pcdh15 |
C |
A |
10: 74,462,614 (GRCm39) |
P1365Q |
probably null |
Het |
Pds5b |
G |
T |
5: 150,688,427 (GRCm39) |
V640F |
probably benign |
Het |
Pgam5 |
A |
T |
5: 110,414,996 (GRCm39) |
H72Q |
probably benign |
Het |
Plagl2 |
C |
A |
2: 153,074,461 (GRCm39) |
A147S |
probably damaging |
Het |
Ppfia4 |
A |
T |
1: 134,256,545 (GRCm39) |
L113Q |
probably null |
Het |
Ppp1r12a |
T |
C |
10: 108,034,722 (GRCm39) |
V89A |
probably damaging |
Het |
Ptprc |
A |
G |
1: 138,028,870 (GRCm39) |
Y443H |
possibly damaging |
Het |
Ralgapb |
T |
C |
2: 158,315,203 (GRCm39) |
|
probably null |
Het |
Rgsl1 |
A |
G |
1: 153,677,980 (GRCm39) |
|
probably null |
Het |
Rubcn |
A |
C |
16: 32,647,713 (GRCm39) |
I681M |
probably damaging |
Het |
Scaf11 |
A |
G |
15: 96,321,434 (GRCm39) |
L169S |
probably damaging |
Het |
Scgb1b27 |
A |
G |
7: 33,721,276 (GRCm39) |
K55E |
probably benign |
Het |
Sos1 |
A |
T |
17: 80,741,159 (GRCm39) |
I542N |
probably damaging |
Het |
Syf2 |
T |
A |
4: 134,663,374 (GRCm39) |
V182D |
probably damaging |
Het |
Tapbp |
T |
C |
17: 34,144,717 (GRCm39) |
V271A |
probably benign |
Het |
Tmem33 |
T |
A |
5: 67,421,651 (GRCm39) |
L60Q |
probably damaging |
Het |
Tmf1 |
A |
G |
6: 97,153,284 (GRCm39) |
V263A |
probably damaging |
Het |
Vps13c |
T |
C |
9: 67,806,020 (GRCm39) |
V798A |
probably benign |
Het |
Zfp384 |
C |
A |
6: 125,013,631 (GRCm39) |
D550E |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGTGTCCACCACTGTATTAGCCC -3'
(R):5'- TCGGAAGCTGGATTAGGACCCAAG -3'
Sequencing Primer
(F):5'- tgttctcaagaaactcaaagtcc -3'
(R):5'- AAATGCACACTGTTCTGTGGTC -3'
|
Posted On |
2013-10-16 |