Incidental Mutation 'R7880:Ect2l'
| ID |
608707 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ect2l
|
| Ensembl Gene |
ENSMUSG00000071392 |
| Gene Name |
epithelial cell transforming sequence 2 oncogene-like |
| Synonyms |
C330021H03Rik, Gm10331 |
| MMRRC Submission |
045932-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.132)
|
| Stock # |
R7880 (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 18012702 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 839
(D839G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146899
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095817]
[ENSMUST00000207827]
[ENSMUST00000208948]
[ENSMUST00000209178]
|
| AlphaFold |
A0A140LIP2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095817
AA Change: D797G
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000093497
Gene: ENSMUSG00000071392
AA Change: D797G
| 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: D795G
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208948
AA Change: D839G
PolyPhen 2
Score 0.596 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000209178
AA Change: D747G
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam12 |
T |
A |
7: 133,511,691 (GRCm39) |
D703V |
possibly damaging |
Het |
| Adamts1 |
G |
A |
16: 85,594,940 (GRCm39) |
R340* |
probably null |
Het |
| Akap13 |
A |
G |
7: 75,235,964 (GRCm39) |
T180A |
probably damaging |
Het |
| Arhgap31 |
G |
A |
16: 38,423,087 (GRCm39) |
A993V |
probably benign |
Het |
| Asxl3 |
C |
T |
18: 22,655,208 (GRCm39) |
P1073S |
possibly damaging |
Het |
| Bmp3 |
T |
G |
5: 99,020,434 (GRCm39) |
S286A |
probably damaging |
Het |
| Cacna2d4 |
C |
T |
6: 119,326,116 (GRCm39) |
S1078F |
probably damaging |
Het |
| Cd101 |
A |
G |
3: 100,915,182 (GRCm39) |
L799P |
probably benign |
Het |
| Chst13 |
C |
T |
6: 90,302,062 (GRCm39) |
R28H |
possibly damaging |
Het |
| CN725425 |
T |
A |
15: 91,130,308 (GRCm39) |
C390* |
probably null |
Het |
| Crabp1 |
C |
A |
9: 54,672,942 (GRCm39) |
C82* |
probably null |
Het |
| Cyp2b23 |
A |
C |
7: 26,372,559 (GRCm39) |
V352G |
probably damaging |
Het |
| Dmrta1 |
T |
A |
4: 89,577,081 (GRCm39) |
V179E |
possibly damaging |
Het |
| Espnl |
A |
T |
1: 91,272,488 (GRCm39) |
E616V |
possibly damaging |
Het |
| Fam50b |
C |
A |
13: 34,930,802 (GRCm39) |
Q93K |
probably benign |
Het |
| Focad |
C |
T |
4: 88,319,407 (GRCm39) |
R1539C |
unknown |
Het |
| Gm14443 |
T |
A |
2: 175,011,163 (GRCm39) |
I428L |
probably benign |
Het |
| Gm21886 |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
18: 80,133,040 (GRCm39) |
|
probably benign |
Het |
| Gramd1c |
C |
G |
16: 43,812,439 (GRCm39) |
A193P |
probably benign |
Het |
| Gsn |
A |
G |
2: 35,173,939 (GRCm39) |
H54R |
probably damaging |
Het |
| Gucy2g |
T |
A |
19: 55,194,712 (GRCm39) |
I902F |
probably damaging |
Het |
| H2-T9 |
T |
A |
17: 36,438,761 (GRCm39) |
H210L |
possibly damaging |
Het |
| Heg1 |
T |
C |
16: 33,539,879 (GRCm39) |
S280P |
possibly damaging |
Het |
| Herc1 |
G |
T |
9: 66,415,506 (GRCm39) |
R4827L |
probably damaging |
Het |
| Igsf21 |
A |
G |
4: 139,884,819 (GRCm39) |
C46R |
probably damaging |
Het |
| Kansl1 |
G |
T |
11: 104,314,979 (GRCm39) |
A353D |
probably damaging |
Het |
| Kcnab3 |
A |
G |
11: 69,222,290 (GRCm39) |
Y311C |
probably damaging |
Het |
| Kctd18 |
A |
G |
1: 58,006,778 (GRCm39) |
I24T |
possibly damaging |
Het |
| Lpcat4 |
C |
A |
2: 112,070,376 (GRCm39) |
H30N |
probably benign |
Het |
| Lrrc4c |
A |
G |
2: 97,461,143 (GRCm39) |
I590V |
probably benign |
Het |
| Lrrc69 |
T |
C |
4: 14,703,946 (GRCm39) |
I291M |
possibly damaging |
Het |
| Nsun6 |
A |
C |
2: 15,001,190 (GRCm39) |
C455W |
probably damaging |
Het |
| Or12e1 |
T |
A |
2: 87,022,434 (GRCm39) |
C134* |
probably null |
Het |
| Or4c3 |
A |
T |
2: 89,852,381 (GRCm39) |
F10I |
probably damaging |
Het |
| Or5ak22 |
G |
T |
2: 85,230,379 (GRCm39) |
S166Y |
possibly damaging |
Het |
| Or7g19 |
T |
G |
9: 18,856,024 (GRCm39) |
L27V |
probably benign |
Het |
| Orc6 |
T |
C |
8: 86,031,873 (GRCm39) |
I162T |
probably benign |
Het |
| Pex13 |
A |
T |
11: 23,599,369 (GRCm39) |
S381T |
probably benign |
Het |
| Ppil1 |
G |
A |
17: 29,480,762 (GRCm39) |
H54Y |
probably damaging |
Het |
| Prrt4 |
T |
C |
6: 29,170,155 (GRCm39) |
I766V |
probably benign |
Het |
| Rab32 |
C |
T |
10: 10,422,159 (GRCm39) |
V187M |
probably damaging |
Het |
| Sema5a |
T |
A |
15: 32,686,954 (GRCm39) |
I1022N |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,191,132 (GRCm39) |
T953A |
probably damaging |
Het |
| Snapc3 |
T |
C |
4: 83,353,431 (GRCm39) |
S157P |
probably damaging |
Het |
| Spink5 |
A |
G |
18: 44,119,393 (GRCm39) |
R235G |
probably benign |
Het |
| Stx5a |
G |
A |
19: 8,719,692 (GRCm39) |
G19D |
probably damaging |
Het |
| Taf4 |
G |
A |
2: 179,573,822 (GRCm39) |
T682M |
probably damaging |
Het |
| Taf4 |
G |
A |
2: 179,577,726 (GRCm39) |
R532* |
probably null |
Het |
| Tmpo |
T |
A |
10: 91,001,892 (GRCm39) |
K106* |
probably null |
Het |
| Trnt1 |
T |
C |
6: 106,746,517 (GRCm39) |
|
probably null |
Het |
| Vmn1r228 |
A |
T |
17: 20,996,672 (GRCm39) |
I282N |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 144,907,684 (GRCm39) |
|
probably null |
Het |
| Zfp703 |
A |
G |
8: 27,468,718 (GRCm39) |
I51V |
unknown |
Het |
| Zfp787 |
A |
G |
7: 6,135,190 (GRCm39) |
F354L |
probably benign |
Het |
| Znrf2 |
T |
C |
6: 54,794,332 (GRCm39) |
V111A |
probably benign |
Het |
| Zwint |
G |
T |
10: 72,492,924 (GRCm39) |
R182L |
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 |
|
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'- GCAGGATGATAAAGTGCCATATGTC -3'
(R):5'- TGGGAAGGCTGTATTATAAACTAGG -3'
Sequencing Primer
(F):5'- CCACTGACCTAGAGGCATATTTGTG -3'
(R):5'- GGCTGTATTATAAACTAGGAAAAGGC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation