Incidental Mutation 'R9496:Ect2l'
ID |
717227 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ect2l
|
Ensembl Gene |
ENSMUSG00000071392 |
Gene Name |
epithelial cell transforming sequence 2 oncogene-like |
Synonyms |
C330021H03Rik, Gm10331 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.132)
|
Stock # |
R9496 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
18004651-18086638 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 18004885 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 916
(N916S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146899
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095817]
[ENSMUST00000126390]
[ENSMUST00000154718]
[ENSMUST00000155284]
[ENSMUST00000164556]
[ENSMUST00000208948]
[ENSMUST00000207827]
[ENSMUST00000209178]
|
AlphaFold |
A0A140LIP2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000095817
AA Change: N874S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000093497 Gene: ENSMUSG00000071392 AA Change: N874S
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: ENSMUST00000126390
|
SMART Domains |
Protein: ENSMUSP00000123238 Gene: ENSMUSG00000019854
Domain | Start | End | E-Value | Type |
EH
|
3 |
99 |
2.34e-2 |
SMART |
low complexity region
|
156 |
175 |
N/A |
INTRINSIC |
low complexity region
|
205 |
216 |
N/A |
INTRINSIC |
low complexity region
|
254 |
265 |
N/A |
INTRINSIC |
EH
|
278 |
373 |
2.18e-34 |
SMART |
low complexity region
|
390 |
406 |
N/A |
INTRINSIC |
low complexity region
|
545 |
561 |
N/A |
INTRINSIC |
low complexity region
|
574 |
599 |
N/A |
INTRINSIC |
Blast:MYSc
|
613 |
671 |
1e-15 |
BLAST |
coiled coil region
|
750 |
790 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150029
|
SMART Domains |
Protein: ENSMUSP00000119651 Gene: ENSMUSG00000019854
Domain | Start | End | E-Value | Type |
Blast:EH
|
2 |
86 |
5e-51 |
BLAST |
low complexity region
|
143 |
162 |
N/A |
INTRINSIC |
low complexity region
|
192 |
203 |
N/A |
INTRINSIC |
low complexity region
|
241 |
252 |
N/A |
INTRINSIC |
EH
|
265 |
360 |
2.18e-34 |
SMART |
low complexity region
|
377 |
393 |
N/A |
INTRINSIC |
low complexity region
|
505 |
521 |
N/A |
INTRINSIC |
low complexity region
|
534 |
559 |
N/A |
INTRINSIC |
Blast:MYSc
|
573 |
631 |
1e-15 |
BLAST |
coiled coil region
|
709 |
749 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154718
|
SMART Domains |
Protein: ENSMUSP00000119358 Gene: ENSMUSG00000019854
Domain | Start | End | E-Value | Type |
EH
|
3 |
99 |
2.34e-2 |
SMART |
low complexity region
|
156 |
175 |
N/A |
INTRINSIC |
low complexity region
|
205 |
216 |
N/A |
INTRINSIC |
low complexity region
|
254 |
265 |
N/A |
INTRINSIC |
EH
|
278 |
373 |
2.18e-34 |
SMART |
low complexity region
|
390 |
406 |
N/A |
INTRINSIC |
low complexity region
|
484 |
509 |
N/A |
INTRINSIC |
Blast:MYSc
|
523 |
581 |
9e-16 |
BLAST |
coiled coil region
|
660 |
700 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155284
|
SMART Domains |
Protein: ENSMUSP00000119629 Gene: ENSMUSG00000019854
Domain | Start | End | E-Value | Type |
Blast:EH
|
3 |
99 |
6e-65 |
BLAST |
low complexity region
|
156 |
175 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164556
|
SMART Domains |
Protein: ENSMUSP00000130501 Gene: ENSMUSG00000019854
Domain | Start | End | E-Value | Type |
EH
|
3 |
99 |
2.34e-2 |
SMART |
low complexity region
|
156 |
175 |
N/A |
INTRINSIC |
low complexity region
|
205 |
216 |
N/A |
INTRINSIC |
low complexity region
|
254 |
265 |
N/A |
INTRINSIC |
EH
|
278 |
373 |
2.18e-34 |
SMART |
low complexity region
|
390 |
406 |
N/A |
INTRINSIC |
low complexity region
|
518 |
534 |
N/A |
INTRINSIC |
low complexity region
|
547 |
572 |
N/A |
INTRINSIC |
Blast:MYSc
|
586 |
644 |
9e-16 |
BLAST |
coiled coil region
|
723 |
763 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000208948
AA Change: N916S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000207827
AA Change: N872S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000209178
AA Change: N824S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atg2a |
A |
T |
19: 6,310,022 (GRCm39) |
Q1735L |
possibly damaging |
Het |
Brpf3 |
A |
G |
17: 29,040,453 (GRCm39) |
D958G |
probably benign |
Het |
Cacna1g |
A |
G |
11: 94,356,711 (GRCm39) |
F142L |
probably benign |
Het |
Calcoco1 |
C |
T |
15: 102,619,876 (GRCm39) |
A303T |
probably benign |
Het |
Chat |
C |
A |
14: 32,148,119 (GRCm39) |
C306F |
probably benign |
Het |
Ciita |
T |
G |
16: 10,298,009 (GRCm39) |
M1R |
probably null |
Het |
Ckap2l |
A |
C |
2: 129,112,595 (GRCm39) |
S638A |
probably benign |
Het |
Coro1c |
C |
T |
5: 113,983,337 (GRCm39) |
G397D |
probably benign |
Het |
Cyb5r2 |
A |
G |
7: 107,353,954 (GRCm39) |
V72A |
probably damaging |
Het |
Cyp2t4 |
G |
A |
7: 26,854,717 (GRCm39) |
V66M |
possibly damaging |
Het |
Dcbld2 |
A |
G |
16: 58,271,164 (GRCm39) |
T314A |
probably benign |
Het |
Dcun1d4 |
T |
G |
5: 73,668,272 (GRCm39) |
H37Q |
probably damaging |
Het |
Dgkd |
T |
A |
1: 87,857,464 (GRCm39) |
S725R |
probably benign |
Het |
Dhx29 |
T |
C |
13: 113,089,460 (GRCm39) |
Y744H |
probably damaging |
Het |
Ep400 |
T |
C |
5: 110,855,853 (GRCm39) |
K1287E |
unknown |
Het |
Epo |
C |
T |
5: 137,482,401 (GRCm39) |
V89I |
probably benign |
Het |
Fbxw15 |
A |
T |
9: 109,397,291 (GRCm39) |
I3N |
probably benign |
Het |
Fcgr3 |
A |
C |
1: 170,879,386 (GRCm39) |
Y219D |
possibly damaging |
Het |
Fign |
A |
T |
2: 63,809,253 (GRCm39) |
C672* |
probably null |
Het |
Fsip2 |
A |
T |
2: 82,793,062 (GRCm39) |
R406S |
probably benign |
Het |
Gli2 |
A |
G |
1: 118,764,425 (GRCm39) |
V1242A |
probably benign |
Het |
Gm10577 |
C |
T |
4: 100,877,745 (GRCm39) |
C50Y |
unknown |
Het |
Gm11568 |
GCTGCTGCCAGCCCTGCTGCCAGCCC |
GCTGCTGCCAGCCCTGCTGCCAGCCCTGCTGCCAGCCC |
11: 99,749,044 (GRCm39) |
|
probably benign |
Het |
Grid1 |
T |
C |
14: 35,291,571 (GRCm39) |
L826P |
probably damaging |
Het |
Hmcn1 |
T |
C |
1: 150,579,971 (GRCm39) |
D1922G |
probably benign |
Het |
Itga2b |
C |
T |
11: 102,358,629 (GRCm39) |
C96Y |
probably damaging |
Het |
Itih2 |
A |
T |
2: 10,106,984 (GRCm39) |
I670N |
probably benign |
Het |
Lypla1 |
A |
T |
1: 4,898,813 (GRCm39) |
|
probably benign |
Het |
Mettl16 |
T |
C |
11: 74,707,696 (GRCm39) |
S337P |
possibly damaging |
Het |
Myh11 |
G |
A |
16: 14,048,616 (GRCm39) |
Q564* |
probably null |
Het |
Myrf |
A |
G |
19: 10,193,840 (GRCm39) |
F529L |
probably benign |
Het |
Nell2 |
T |
G |
15: 95,194,097 (GRCm39) |
I539L |
probably benign |
Het |
Nfxl1 |
A |
T |
5: 72,685,502 (GRCm39) |
V646E |
possibly damaging |
Het |
Nin |
T |
C |
12: 70,102,762 (GRCm39) |
T289A |
|
Het |
Obsl1 |
C |
T |
1: 75,467,484 (GRCm39) |
C1430Y |
probably damaging |
Het |
Otog |
T |
C |
7: 45,890,505 (GRCm39) |
L18P |
unknown |
Het |
Pkd1l1 |
C |
A |
11: 8,783,773 (GRCm39) |
|
probably null |
Het |
Pum1 |
T |
C |
4: 130,446,664 (GRCm39) |
|
probably null |
Het |
Rhbdl1 |
A |
T |
17: 26,055,371 (GRCm39) |
|
probably null |
Het |
Rmdn2 |
T |
A |
17: 79,975,425 (GRCm39) |
L305I |
possibly damaging |
Het |
Scn3a |
A |
G |
2: 65,312,493 (GRCm39) |
|
probably null |
Het |
Shtn1 |
G |
T |
19: 58,963,457 (GRCm39) |
S619R |
probably damaging |
Het |
Smpd1 |
G |
A |
7: 105,205,202 (GRCm39) |
|
probably null |
Het |
Tepsin |
A |
G |
11: 119,982,357 (GRCm39) |
L571S |
probably damaging |
Het |
Tm7sf3 |
C |
T |
6: 146,525,179 (GRCm39) |
D89N |
possibly damaging |
Het |
Tssk5 |
T |
C |
15: 76,258,856 (GRCm39) |
D10G |
probably benign |
Het |
Usp39 |
A |
G |
6: 72,302,759 (GRCm39) |
Y432H |
probably benign |
Het |
Vmn2r97 |
T |
A |
17: 19,149,227 (GRCm39) |
V205D |
probably damaging |
Het |
Vwa8 |
T |
C |
14: 79,258,122 (GRCm39) |
V757A |
probably benign |
Het |
Zc2hc1b |
A |
T |
10: 13,044,540 (GRCm39) |
F41Y |
probably damaging |
Het |
Zfp1007 |
A |
G |
5: 109,823,924 (GRCm39) |
S509P |
probably damaging |
Het |
Zfp114 |
A |
T |
7: 23,880,463 (GRCm39) |
S271C |
possibly 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 |
|
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 |
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 |
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'- GAAAGTCCACACCTCTGACTTTCC -3'
(R):5'- CATTAGTGTAGCTCCAGTGGAATAC -3'
Sequencing Primer
(F):5'- ACACCTCTGACTTTCCAGGGAC -3'
(R):5'- CTGAGACAGGGTTTCTCTGTATAGCC -3'
|
Posted On |
2022-07-18 |