Incidental Mutation 'R1103:Ect2l'
| ID |
98279 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ect2l
|
| Ensembl Gene |
ENSMUSG00000071392 |
| Gene Name |
epithelial cell transforming sequence 2 oncogene-like |
| Synonyms |
C330021H03Rik, Gm10331 |
| MMRRC Submission |
039176-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.132)
|
| Stock # |
R1103 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
18004651-18086638 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 18016274 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 705
(T705A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146490
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095817]
[ENSMUST00000207827]
[ENSMUST00000208948]
[ENSMUST00000209178]
|
| AlphaFold |
A0A140LIP2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095817
AA Change: T705A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000093497
Gene: ENSMUSG00000071392
AA Change: T705A
| 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: T705A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208948
AA Change: T747A
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000209178
AA Change: T655A
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215232
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216336
|
| Meta Mutation Damage Score |
0.6125 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.7%
|
| Validation Efficiency |
97% (60/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700056E22Rik |
C |
T |
1: 183,765,702 (GRCm39) |
S119N |
probably benign |
Het |
| 4930524J08Rik |
G |
A |
5: 100,126,980 (GRCm39) |
|
probably benign |
Het |
| Adam3 |
T |
A |
8: 25,204,287 (GRCm39) |
|
probably benign |
Het |
| Adpgk |
A |
G |
9: 59,221,079 (GRCm39) |
H295R |
probably damaging |
Het |
| Aftph |
A |
T |
11: 20,676,547 (GRCm39) |
M199K |
probably benign |
Het |
| Ap2a1 |
C |
A |
7: 44,553,593 (GRCm39) |
|
probably benign |
Het |
| Atpaf2 |
T |
C |
11: 60,294,776 (GRCm39) |
I216V |
probably benign |
Het |
| Bag4 |
A |
T |
8: 26,257,891 (GRCm39) |
|
probably benign |
Het |
| Bltp1 |
A |
T |
3: 37,050,672 (GRCm39) |
M3003L |
probably benign |
Het |
| Bud23 |
T |
C |
5: 135,089,993 (GRCm39) |
S67G |
probably damaging |
Het |
| Cfap157 |
A |
G |
2: 32,671,410 (GRCm39) |
F132S |
probably damaging |
Het |
| Cngb3 |
G |
A |
4: 19,309,658 (GRCm39) |
|
probably null |
Het |
| Cntnap5a |
A |
G |
1: 116,508,399 (GRCm39) |
I1304V |
possibly damaging |
Het |
| Cp |
A |
G |
3: 20,036,149 (GRCm39) |
K764E |
possibly damaging |
Het |
| Crebbp |
A |
G |
16: 3,901,925 (GRCm39) |
V2438A |
probably damaging |
Het |
| Csmd3 |
A |
T |
15: 47,811,402 (GRCm39) |
W1230R |
probably damaging |
Het |
| Cul1 |
G |
A |
6: 47,494,111 (GRCm39) |
V475I |
probably benign |
Het |
| Dnttip2 |
T |
C |
3: 122,070,071 (GRCm39) |
S429P |
probably benign |
Het |
| Dtwd1 |
T |
C |
2: 125,996,643 (GRCm39) |
S43P |
probably damaging |
Het |
| Erbin |
G |
T |
13: 104,022,710 (GRCm39) |
T43N |
probably benign |
Het |
| Fcgbpl1 |
G |
T |
7: 27,853,945 (GRCm39) |
L1636F |
probably damaging |
Het |
| Flt4 |
C |
T |
11: 49,527,166 (GRCm39) |
|
probably benign |
Het |
| Gpr150 |
G |
T |
13: 76,203,712 (GRCm39) |
P411Q |
probably damaging |
Het |
| Grap |
C |
A |
11: 61,562,544 (GRCm39) |
Q172K |
probably benign |
Het |
| Ido2 |
G |
A |
8: 25,066,239 (GRCm39) |
T9M |
probably benign |
Het |
| Klkb1 |
C |
A |
8: 45,729,183 (GRCm39) |
C347F |
probably damaging |
Het |
| Klra17 |
G |
A |
6: 129,845,806 (GRCm39) |
|
probably benign |
Het |
| Lama1 |
T |
C |
17: 68,097,942 (GRCm39) |
L1774P |
probably damaging |
Het |
| Lhpp |
A |
T |
7: 132,212,484 (GRCm39) |
D17V |
probably damaging |
Het |
| Lrfn4 |
T |
C |
19: 4,663,299 (GRCm39) |
T412A |
probably benign |
Het |
| Lrrc7 |
C |
T |
3: 157,854,343 (GRCm39) |
|
probably benign |
Het |
| Ltbp3 |
A |
T |
19: 5,797,439 (GRCm39) |
|
probably null |
Het |
| Ltbp3 |
G |
C |
19: 5,797,440 (GRCm39) |
|
probably null |
Het |
| Luzp1 |
T |
A |
4: 136,268,041 (GRCm39) |
L88Q |
possibly damaging |
Het |
| Magi2 |
T |
C |
5: 20,816,101 (GRCm39) |
I747T |
probably damaging |
Het |
| Map1b |
A |
T |
13: 99,563,974 (GRCm39) |
|
probably benign |
Het |
| Map3k4 |
A |
T |
17: 12,455,950 (GRCm39) |
|
probably null |
Het |
| Map3k5 |
C |
A |
10: 19,899,422 (GRCm39) |
D226E |
probably benign |
Het |
| Mtf1 |
T |
A |
4: 124,732,261 (GRCm39) |
S440T |
probably benign |
Het |
| Myo18a |
T |
A |
11: 77,714,156 (GRCm39) |
L389Q |
probably damaging |
Het |
| Myom2 |
A |
G |
8: 15,160,827 (GRCm39) |
D900G |
probably benign |
Het |
| Nfasc |
T |
C |
1: 132,534,795 (GRCm39) |
|
probably benign |
Het |
| Obscn |
A |
T |
11: 58,912,309 (GRCm39) |
S7044R |
probably damaging |
Het |
| Or5bw2 |
T |
A |
7: 6,573,111 (GRCm39) |
N40K |
probably damaging |
Het |
| Or5e1 |
T |
C |
7: 108,354,090 (GRCm39) |
V9A |
possibly damaging |
Het |
| Or6k4 |
T |
C |
1: 173,964,457 (GRCm39) |
V49A |
probably benign |
Het |
| Pde4c |
T |
A |
8: 71,201,066 (GRCm39) |
H421Q |
probably damaging |
Het |
| Pnmt |
G |
T |
11: 98,278,502 (GRCm39) |
R156L |
probably benign |
Het |
| Pramel22 |
A |
C |
4: 143,381,942 (GRCm39) |
C251W |
probably damaging |
Het |
| Rnf138 |
A |
G |
18: 21,159,159 (GRCm39) |
E193G |
probably damaging |
Het |
| Sesn1 |
G |
T |
10: 41,778,589 (GRCm39) |
R346L |
possibly damaging |
Het |
| Setd4 |
G |
T |
16: 93,382,082 (GRCm39) |
H390Q |
probably benign |
Het |
| Supt6 |
T |
C |
11: 78,116,299 (GRCm39) |
E688G |
possibly damaging |
Het |
| Syne2 |
G |
A |
12: 76,156,609 (GRCm39) |
D6802N |
probably benign |
Het |
| Syt16 |
A |
G |
12: 74,313,672 (GRCm39) |
K533E |
probably damaging |
Het |
| Tg |
A |
T |
15: 66,591,504 (GRCm39) |
Q26H |
probably benign |
Het |
| Trim33 |
G |
T |
3: 103,218,201 (GRCm39) |
W250L |
probably damaging |
Het |
| Trip4 |
A |
G |
9: 65,788,188 (GRCm39) |
C86R |
probably benign |
Het |
| Upf2 |
T |
A |
2: 6,030,986 (GRCm39) |
C809S |
unknown |
Het |
| Vrk2 |
A |
G |
11: 26,499,325 (GRCm39) |
F76L |
probably damaging |
Het |
| Zfp804a |
A |
G |
2: 82,087,844 (GRCm39) |
T558A |
probably 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 |
|
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'- CCGGAGTATGGAGTCTCAGAGCATAG -3'
(R):5'- GAGAAAGTTAGGTAACCCCACAAGGTC -3'
Sequencing Primer
(F):5'- TATGGAGTCTCAGAGCATAGAGAAG -3'
(R):5'- CGGAGGGAGATGTTACCTTCTTAC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation