Incidental Mutation 'R9040:Ect2l'
| ID |
687673 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ect2l
|
| Ensembl Gene |
ENSMUSG00000071392 |
| Gene Name |
epithelial cell transforming sequence 2 oncogene-like |
| Synonyms |
C330021H03Rik, Gm10331 |
| MMRRC Submission |
068867-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.156)
|
| Stock # |
R9040 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
18004651-18086638 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 18077098 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 2
(S2T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146899
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095817]
[ENSMUST00000207827]
[ENSMUST00000208948]
[ENSMUST00000209178]
|
| AlphaFold |
A0A140LIP2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095817
AA Change: S2T
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000093497
Gene: ENSMUSG00000071392
AA Change: S2T
| 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 |
possibly damaging
Transcript: ENSMUST00000207827
AA Change: S2T
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208948
AA Change: S2T
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000209178
AA Change: S2T
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (59/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
A |
C |
8: 44,103,363 (GRCm39) |
|
probably benign |
Het |
| Agap1 |
T |
C |
1: 89,671,466 (GRCm39) |
V391A |
probably damaging |
Het |
| Apba2 |
C |
T |
7: 64,393,072 (GRCm39) |
A531V |
possibly damaging |
Het |
| Apcdd1 |
T |
A |
18: 63,070,414 (GRCm39) |
V227E |
probably damaging |
Het |
| Bbs7 |
A |
G |
3: 36,629,987 (GRCm39) |
V564A |
probably benign |
Het |
| Ccdc154 |
T |
A |
17: 25,382,793 (GRCm39) |
M141K |
possibly damaging |
Het |
| Cd200l1 |
C |
A |
16: 45,264,509 (GRCm39) |
K16N |
possibly damaging |
Het |
| Cdk9 |
C |
A |
2: 32,597,999 (GRCm39) |
Q352H |
probably benign |
Het |
| Chsy3 |
T |
C |
18: 59,542,760 (GRCm39) |
Y633H |
probably damaging |
Het |
| Cpz |
T |
A |
5: 35,672,835 (GRCm39) |
Y195F |
possibly damaging |
Het |
| Cyp3a16 |
T |
C |
5: 145,392,922 (GRCm39) |
R128G |
possibly damaging |
Het |
| Dhodh |
A |
T |
8: 110,328,781 (GRCm39) |
|
probably benign |
Het |
| Dlec1 |
G |
A |
9: 118,950,985 (GRCm39) |
S517N |
probably benign |
Het |
| Dock7 |
A |
T |
4: 98,889,364 (GRCm39) |
L175* |
probably null |
Het |
| Duxf1 |
A |
G |
10: 58,059,608 (GRCm39) |
I382T |
unknown |
Het |
| Epn3 |
G |
A |
11: 94,382,749 (GRCm39) |
S445F |
possibly damaging |
Het |
| Gm40460 |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
7: 141,794,171 (GRCm39) |
|
probably benign |
Het |
| Gm7298 |
T |
C |
6: 121,764,438 (GRCm39) |
F1439S |
probably benign |
Het |
| Hormad1 |
A |
T |
3: 95,487,470 (GRCm39) |
E289D |
possibly damaging |
Het |
| Idua |
T |
C |
5: 108,828,929 (GRCm39) |
L391P |
probably damaging |
Het |
| Kank2 |
G |
T |
9: 21,706,115 (GRCm39) |
A301E |
probably damaging |
Het |
| Kcnk10 |
C |
T |
12: 98,401,098 (GRCm39) |
E526K |
probably benign |
Het |
| Kif16b |
T |
C |
2: 142,691,798 (GRCm39) |
I229V |
probably benign |
Het |
| Krt25 |
T |
C |
11: 99,207,379 (GRCm39) |
Y400C |
probably benign |
Het |
| Krt26 |
C |
T |
11: 99,222,093 (GRCm39) |
G405S |
probably benign |
Het |
| Krt42 |
G |
A |
11: 100,157,859 (GRCm39) |
R202W |
probably damaging |
Het |
| Lbr |
A |
G |
1: 181,644,910 (GRCm39) |
V547A |
probably damaging |
Het |
| Lrrc8b |
T |
C |
5: 105,628,161 (GRCm39) |
L169P |
probably benign |
Het |
| Midn |
T |
A |
10: 79,989,918 (GRCm39) |
V262D |
probably damaging |
Het |
| Mroh9 |
T |
A |
1: 162,890,069 (GRCm39) |
I223F |
probably benign |
Het |
| Mtor |
C |
A |
4: 148,548,205 (GRCm39) |
A490E |
probably benign |
Het |
| Muc16 |
G |
A |
9: 18,556,082 (GRCm39) |
Q3404* |
probably null |
Het |
| Myo5a |
A |
T |
9: 75,081,341 (GRCm39) |
E975D |
probably benign |
Het |
| Ncoa7 |
T |
C |
10: 30,530,389 (GRCm39) |
Y764C |
probably benign |
Het |
| Nedd4l |
T |
C |
18: 65,342,734 (GRCm39) |
L769P |
probably damaging |
Het |
| Or11g25 |
G |
T |
14: 50,722,995 (GRCm39) |
G27W |
probably benign |
Het |
| Pank4 |
C |
G |
4: 155,064,559 (GRCm39) |
T706R |
probably benign |
Het |
| Plxnc1 |
G |
T |
10: 94,779,379 (GRCm39) |
C354* |
probably null |
Het |
| Prkca |
A |
G |
11: 107,905,186 (GRCm39) |
I184T |
possibly damaging |
Het |
| Prune2 |
T |
C |
19: 17,097,991 (GRCm39) |
V1165A |
probably damaging |
Het |
| Psmc6 |
T |
A |
14: 45,581,111 (GRCm39) |
D302E |
probably benign |
Het |
| Rab11fip5 |
A |
G |
6: 85,324,915 (GRCm39) |
L464P |
probably damaging |
Het |
| Reg1 |
A |
T |
6: 78,403,268 (GRCm39) |
|
probably benign |
Het |
| Rhbdf1 |
T |
C |
11: 32,163,063 (GRCm39) |
T438A |
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,609,672 (GRCm39) |
R4385G |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,784,731 (GRCm39) |
Y237H |
probably damaging |
Het |
| Scai |
G |
T |
2: 38,965,164 (GRCm39) |
T560K |
probably benign |
Het |
| Scn1a |
A |
G |
2: 66,148,245 (GRCm39) |
L80P |
probably damaging |
Het |
| Sez6 |
T |
C |
11: 77,864,762 (GRCm39) |
L574P |
probably benign |
Het |
| Slc41a1 |
T |
G |
1: 131,768,623 (GRCm39) |
S194A |
probably damaging |
Het |
| Slc6a7 |
T |
C |
18: 61,134,360 (GRCm39) |
|
probably benign |
Het |
| Slit3 |
A |
G |
11: 35,594,136 (GRCm39) |
H1442R |
probably damaging |
Het |
| Sra1 |
A |
T |
18: 36,808,790 (GRCm39) |
L281Q |
probably damaging |
Het |
| Steap2 |
A |
T |
5: 5,732,722 (GRCm39) |
W101R |
probably benign |
Het |
| Tfap2b |
C |
T |
1: 19,304,314 (GRCm39) |
R375W |
probably damaging |
Het |
| Tfr2 |
A |
T |
5: 137,572,967 (GRCm39) |
T233S |
probably benign |
Het |
| Traf3ip1 |
T |
A |
1: 91,429,092 (GRCm39) |
H286Q |
probably damaging |
Het |
| Ubash3a |
A |
G |
17: 31,457,960 (GRCm39) |
|
probably benign |
Het |
| Vmn2r85 |
A |
G |
10: 130,254,311 (GRCm39) |
I791T |
probably damaging |
Het |
| Zkscan4 |
T |
C |
13: 21,668,229 (GRCm39) |
C256R |
probably benign |
Het |
| Zscan4-ps3 |
A |
T |
7: 11,346,638 (GRCm39) |
N225Y |
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 |
|
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 |
|
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'- CTTTGCAACATAGCCAGGTTC -3'
(R):5'- ACCCGAATTGTAATTCTGTGGATGC -3'
Sequencing Primer
(F):5'- GCAACATAGCCAGGTTCATTCTG -3'
(R):5'- GTAATTCTGTGGATGCTTCACC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation