Incidental Mutation 'R6720:Ect2l'
| ID |
529546 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ect2l
|
| Ensembl Gene |
ENSMUSG00000071392 |
| Gene Name |
epithelial cell transforming sequence 2 oncogene-like |
| Synonyms |
C330021H03Rik, Gm10331 |
| MMRRC Submission |
044838-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.157)
|
| Stock # |
R6720 (G1)
|
| Quality Score |
219.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
18128903-18210890 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 18140264 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 802
(D802G)
|
| 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: D760G
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000093497
Gene: ENSMUSG00000071392
AA Change: D760G
| 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: D760G
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208948
AA Change: D802G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000209178
AA Change: D710G
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215232
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216336
|
| Meta Mutation Damage Score |
0.1896 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.6%
|
| Validation Efficiency |
98% (50/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
G |
A |
4: 137,454,686 (GRCm38) |
E51K |
possibly damaging |
Het |
| Abca1 |
A |
C |
4: 53,083,733 (GRCm38) |
L700R |
probably damaging |
Het |
| Arpc1a |
C |
A |
5: 145,101,222 (GRCm38) |
|
probably null |
Het |
| Baz2b |
G |
T |
2: 59,924,890 (GRCm38) |
P241Q |
probably damaging |
Het |
| Cd6 |
T |
A |
19: 10,794,609 (GRCm38) |
T414S |
probably benign |
Het |
| Ces2b |
A |
T |
8: 104,836,869 (GRCm38) |
E409D |
probably benign |
Het |
| Cfap54 |
A |
G |
10: 92,821,119 (GRCm38) |
Y3024H |
probably benign |
Het |
| Chrm1 |
A |
G |
19: 8,678,548 (GRCm38) |
T206A |
probably benign |
Het |
| Clptm1l |
T |
C |
13: 73,618,516 (GRCm38) |
W512R |
probably damaging |
Het |
| Col15a1 |
T |
A |
4: 47,247,552 (GRCm38) |
|
probably null |
Het |
| Cox15 |
A |
G |
19: 43,736,789 (GRCm38) |
S392P |
probably damaging |
Het |
| Cr2 |
T |
C |
1: 195,155,200 (GRCm38) |
M1197V |
probably damaging |
Het |
| Ddx60 |
A |
G |
8: 62,000,689 (GRCm38) |
K1281E |
probably benign |
Het |
| Dnah11 |
A |
G |
12: 118,045,646 (GRCm38) |
F2094L |
probably damaging |
Het |
| Ear2 |
T |
A |
14: 44,102,959 (GRCm38) |
C25S |
probably damaging |
Het |
| Eftud2 |
G |
A |
11: 102,838,623 (GRCm38) |
Q84* |
probably null |
Het |
| Eif4g3 |
T |
A |
4: 138,175,832 (GRCm38) |
|
probably null |
Het |
| Ephb2 |
T |
C |
4: 136,657,502 (GRCm38) |
D866G |
probably damaging |
Het |
| Fam129b |
T |
A |
2: 32,905,826 (GRCm38) |
V22D |
probably damaging |
Het |
| Farsb |
A |
G |
1: 78,472,497 (GRCm38) |
M99T |
probably damaging |
Het |
| Foxs1 |
T |
A |
2: 152,932,720 (GRCm38) |
S138C |
probably damaging |
Het |
| Frem1 |
T |
G |
4: 83,013,832 (GRCm38) |
S211R |
probably damaging |
Het |
| Gm19410 |
G |
A |
8: 35,807,576 (GRCm38) |
R1517Q |
probably benign |
Het |
| Gria2 |
T |
C |
3: 80,802,304 (GRCm38) |
I27M |
probably benign |
Het |
| H2-Q7 |
A |
G |
17: 35,442,678 (GRCm38) |
E299G |
probably benign |
Het |
| Hao2 |
T |
G |
3: 98,877,135 (GRCm38) |
I305L |
probably benign |
Het |
| Hectd4 |
C |
T |
5: 121,307,381 (GRCm38) |
Q122* |
probably null |
Het |
| Hivep1 |
T |
A |
13: 42,164,284 (GRCm38) |
C2079S |
probably damaging |
Het |
| Hoxb1 |
C |
A |
11: 96,366,987 (GRCm38) |
Q248K |
probably damaging |
Het |
| Hspb6 |
A |
G |
7: 30,554,347 (GRCm38) |
D95G |
probably benign |
Het |
| Ighv5-2 |
T |
A |
12: 113,578,506 (GRCm38) |
R117S |
probably damaging |
Het |
| Ino80d |
A |
C |
1: 63,058,610 (GRCm38) |
S708R |
probably damaging |
Het |
| Lman1l |
A |
G |
9: 57,614,072 (GRCm38) |
|
probably null |
Het |
| Mmp15 |
A |
G |
8: 95,365,314 (GRCm38) |
N51D |
probably benign |
Het |
| Naip1 |
T |
C |
13: 100,423,077 (GRCm38) |
M1140V |
probably benign |
Het |
| Olfr1053 |
A |
G |
2: 86,315,065 (GRCm38) |
S74P |
probably damaging |
Het |
| Olfr1373 |
A |
G |
11: 52,144,693 (GRCm38) |
V279A |
probably benign |
Het |
| Olfr397 |
A |
G |
11: 73,965,465 (GRCm38) |
N286D |
probably damaging |
Het |
| Olfr890 |
T |
A |
9: 38,143,153 (GRCm38) |
M1K |
probably null |
Het |
| Pard3b |
A |
T |
1: 62,159,470 (GRCm38) |
N239I |
probably damaging |
Het |
| Parvb |
C |
T |
15: 84,297,979 (GRCm38) |
R237W |
probably damaging |
Het |
| Pcdha9 |
T |
C |
18: 36,998,069 (GRCm38) |
S64P |
probably damaging |
Het |
| Pdcd1 |
T |
C |
1: 94,041,389 (GRCm38) |
N68S |
probably benign |
Het |
| Pi4ka |
G |
T |
16: 17,326,052 (GRCm38) |
|
probably null |
Het |
| Plekha4 |
A |
T |
7: 45,540,886 (GRCm38) |
D359V |
possibly damaging |
Het |
| Serpinb13 |
A |
G |
1: 106,994,062 (GRCm38) |
I78V |
probably benign |
Het |
| Slc39a7 |
T |
A |
17: 34,030,108 (GRCm38) |
T269S |
probably benign |
Het |
| Sltm |
T |
G |
9: 70,573,710 (GRCm38) |
D281E |
probably damaging |
Het |
| Zfp708 |
T |
C |
13: 67,071,432 (GRCm38) |
Y76C |
probably damaging |
Het |
| Zfp990 |
T |
A |
4: 145,536,927 (GRCm38) |
V165D |
possibly damaging |
Het |
|
| Other mutations in Ect2l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01555:Ect2l
|
APN |
10 |
18,130,730 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01773:Ect2l
|
APN |
10 |
18,161,504 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL02293:Ect2l
|
APN |
10 |
18,140,511 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02589:Ect2l
|
APN |
10 |
18,140,594 (GRCm38) |
splice site |
probably benign |
|
|
IGL02866:Ect2l
|
APN |
10 |
18,159,817 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0037:Ect2l
|
UTSW |
10 |
18,143,097 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0526:Ect2l
|
UTSW |
10 |
18,199,940 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R0628:Ect2l
|
UTSW |
10 |
18,143,040 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0839:Ect2l
|
UTSW |
10 |
18,141,904 (GRCm38) |
missense |
probably benign |
0.03 |
|
R0948:Ect2l
|
UTSW |
10 |
18,140,586 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1103:Ect2l
|
UTSW |
10 |
18,140,526 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1238:Ect2l
|
UTSW |
10 |
18,143,104 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R1326:Ect2l
|
UTSW |
10 |
18,165,542 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1327:Ect2l
|
UTSW |
10 |
18,165,542 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1544:Ect2l
|
UTSW |
10 |
18,168,434 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1848:Ect2l
|
UTSW |
10 |
18,200,033 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1921:Ect2l
|
UTSW |
10 |
18,143,004 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R1938:Ect2l
|
UTSW |
10 |
18,144,635 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2081:Ect2l
|
UTSW |
10 |
18,165,527 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3551:Ect2l
|
UTSW |
10 |
18,163,393 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3608:Ect2l
|
UTSW |
10 |
18,142,940 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R3886:Ect2l
|
UTSW |
10 |
18,168,458 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4120:Ect2l
|
UTSW |
10 |
18,130,718 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4348:Ect2l
|
UTSW |
10 |
18,136,988 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4992:Ect2l
|
UTSW |
10 |
18,172,729 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5053:Ect2l
|
UTSW |
10 |
18,140,345 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5144:Ect2l
|
UTSW |
10 |
18,144,577 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5654:Ect2l
|
UTSW |
10 |
18,143,062 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5779:Ect2l
|
UTSW |
10 |
18,163,438 (GRCm38) |
missense |
probably benign |
0.09 |
|
R5814:Ect2l
|
UTSW |
10 |
18,200,009 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6053:Ect2l
|
UTSW |
10 |
18,141,844 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6057:Ect2l
|
UTSW |
10 |
18,161,502 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6244:Ect2l
|
UTSW |
10 |
18,140,397 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R6817:Ect2l
|
UTSW |
10 |
18,174,059 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6894:Ect2l
|
UTSW |
10 |
18,169,380 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7199:Ect2l
|
UTSW |
10 |
18,129,146 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7313:Ect2l
|
UTSW |
10 |
18,168,401 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7404:Ect2l
|
UTSW |
10 |
18,159,781 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7482:Ect2l
|
UTSW |
10 |
18,168,454 (GRCm38) |
missense |
probably benign |
0.07 |
|
R7751:Ect2l
|
UTSW |
10 |
18,169,405 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R7752:Ect2l
|
UTSW |
10 |
18,141,964 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7880:Ect2l
|
UTSW |
10 |
18,136,954 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R7901:Ect2l
|
UTSW |
10 |
18,141,964 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R8138:Ect2l
|
UTSW |
10 |
18,169,405 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8526:Ect2l
|
UTSW |
10 |
18,144,627 (GRCm38) |
missense |
probably benign |
0.37 |
|
R8870:Ect2l
|
UTSW |
10 |
18,138,860 (GRCm38) |
nonsense |
probably null |
|
|
R8885:Ect2l
|
UTSW |
10 |
18,172,835 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9015:Ect2l
|
UTSW |
10 |
18,163,400 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9040:Ect2l
|
UTSW |
10 |
18,201,350 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R9195:Ect2l
|
UTSW |
10 |
18,143,088 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9335:Ect2l
|
UTSW |
10 |
18,201,284 (GRCm38) |
missense |
probably null |
1.00 |
|
R9496:Ect2l
|
UTSW |
10 |
18,129,137 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9659:Ect2l
|
UTSW |
10 |
18,165,599 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R9712:Ect2l
|
UTSW |
10 |
18,168,434 (GRCm38) |
missense |
probably benign |
0.04 |
|
R9788:Ect2l
|
UTSW |
10 |
18,165,599 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
X0018:Ect2l
|
UTSW |
10 |
18,130,652 (GRCm38) |
missense |
probably benign |
0.02 |
|
Z1177:Ect2l
|
UTSW |
10 |
18,172,672 (GRCm38) |
missense |
probably null |
0.71 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCATTGCTTGACATTGTTTGG -3'
(R):5'- TGGCCTACAGGTAGCAATGAG -3'
Sequencing Primer
(F):5'- GGCTTGAAATAGATGCCCTTC -3'
(R):5'- CCTACAGGTAGCAATGAGGGCAC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation