Incidental Mutation 'R0056:Etv3'
| ID |
64353 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Etv3
|
| Ensembl Gene |
ENSMUSG00000003382 |
| Gene Name |
ets variant 3 |
| Synonyms |
METS, ETS-domain transcriptional repressor, Pe1 |
| MMRRC Submission |
038350-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0056 (G1)
|
| Quality Score |
85 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
87432891-87447463 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87443135 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 240
(Y240H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127419
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117293]
[ENSMUST00000119109]
[ENSMUST00000170036]
|
| AlphaFold |
Q8R4Z4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117293
|
| SMART Domains |
Protein: ENSMUSP00000114047
Gene: ENSMUSG00000003382
| Domain | Start | End | E-Value | Type |
|---|
|
ETS
|
34 |
120 |
2.74e-51 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119109
AA Change: Y240H
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000112915
Gene: ENSMUSG00000003382
AA Change: Y240H
| Domain | Start | End | E-Value | Type |
|---|
|
ETS
|
34 |
120 |
2.74e-51 |
SMART |
|
low complexity region
|
170 |
177 |
N/A |
INTRINSIC |
|
low complexity region
|
356 |
370 |
N/A |
INTRINSIC |
|
low complexity region
|
504 |
513 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136680
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152010
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170036
AA Change: Y240H
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000127419
Gene: ENSMUSG00000003382
AA Change: Y240H
| Domain | Start | End | E-Value | Type |
|---|
|
ETS
|
34 |
120 |
2.74e-51 |
SMART |
|
low complexity region
|
170 |
177 |
N/A |
INTRINSIC |
|
low complexity region
|
356 |
370 |
N/A |
INTRINSIC |
|
low complexity region
|
504 |
513 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 12 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bms1 |
A |
T |
6: 118,382,190 (GRCm39) |
D449E |
probably benign |
Het |
| Fscb |
T |
G |
12: 64,521,021 (GRCm39) |
R148S |
possibly damaging |
Het |
| Mapk6 |
A |
G |
9: 75,296,098 (GRCm39) |
Y467H |
possibly damaging |
Het |
| Marf1 |
C |
T |
16: 13,960,398 (GRCm39) |
A549T |
probably damaging |
Het |
| Mogat1 |
T |
G |
1: 78,500,407 (GRCm39) |
M157R |
probably damaging |
Het |
| Pold2 |
T |
A |
11: 5,822,338 (GRCm39) |
S444C |
possibly damaging |
Het |
| Robo4 |
G |
A |
9: 37,315,773 (GRCm39) |
R342Q |
probably benign |
Het |
| Satb1 |
T |
A |
17: 52,047,231 (GRCm39) |
I695F |
probably damaging |
Het |
| Snapc1 |
C |
T |
12: 74,021,806 (GRCm39) |
R81C |
probably damaging |
Het |
| Stk10 |
T |
A |
11: 32,567,851 (GRCm39) |
N884K |
possibly damaging |
Het |
| Tex15 |
A |
G |
8: 34,072,055 (GRCm39) |
H2534R |
probably benign |
Het |
| Ticam2 |
G |
T |
18: 46,693,401 (GRCm39) |
Q229K |
possibly damaging |
Het |
|
| Other mutations in Etv3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01514:Etv3
|
APN |
3 |
87,443,025 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02613:Etv3
|
APN |
3 |
87,443,702 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02698:Etv3
|
APN |
3 |
87,443,885 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
Rodeo
|
UTSW |
3 |
87,443,338 (GRCm39) |
nonsense |
probably null |
|
|
Schooled
|
UTSW |
3 |
87,436,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2074:Etv3
|
UTSW |
3 |
87,443,526 (GRCm39) |
missense |
probably benign |
|
|
R2104:Etv3
|
UTSW |
3 |
87,443,369 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4120:Etv3
|
UTSW |
3 |
87,443,589 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4923:Etv3
|
UTSW |
3 |
87,443,223 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4960:Etv3
|
UTSW |
3 |
87,435,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5642:Etv3
|
UTSW |
3 |
87,443,322 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5907:Etv3
|
UTSW |
3 |
87,442,850 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6020:Etv3
|
UTSW |
3 |
87,436,671 (GRCm39) |
missense |
probably benign |
|
|
R6882:Etv3
|
UTSW |
3 |
87,436,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7515:Etv3
|
UTSW |
3 |
87,435,363 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7570:Etv3
|
UTSW |
3 |
87,443,338 (GRCm39) |
nonsense |
probably null |
|
|
R8340:Etv3
|
UTSW |
3 |
87,443,856 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8690:Etv3
|
UTSW |
3 |
87,443,786 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9664:Etv3
|
UTSW |
3 |
87,443,172 (GRCm39) |
missense |
probably benign |
0.33 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTCCTACTGGCGATGTGCAACC -3'
(R):5'- TGGTAGTTGAACACCGAACAGGC -3'
Sequencing Primer
(F):5'- CTGAGTCAGGGGTTACCACTG -3'
(R):5'- ATGAAGGTAGTGTTTCATTTCCTC -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation