Incidental Mutation 'R7688:Ets1'
| ID |
593216 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ets1
|
| Ensembl Gene |
ENSMUSG00000032035 |
| Gene Name |
E26 avian leukemia oncogene 1, 5' domain |
| Synonyms |
Ets-1, Tpl1, p51Ets-1, vs, p42Ets-1 |
| MMRRC Submission |
045752-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.897)
|
| Stock # |
R7688 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
32547517-32669116 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 32607720 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 14
(I14N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034534
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034534]
[ENSMUST00000050797]
[ENSMUST00000184364]
[ENSMUST00000184887]
|
| AlphaFold |
P27577 |
| PDB Structure |
Pax5(1-149)+Ets-1(331-440)+DNA [X-RAY DIFFRACTION]
Ets-1(331-440)+GGAA duplex [X-RAY DIFFRACTION]
Ets-1(331-440)+GGAG duplex [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF AN INHIBITED FRAGMENT OF Ets-1 [X-RAY DIFFRACTION]
INHIBITED FRAGMENT OF ETS-1 AND PAIRED DOMAIN OF PAX5 BOUND TO DNA [X-RAY DIFFRACTION]
NMR-based structure of autoinhibited murine Ets-1 deltaN301 [SOLUTION NMR]
Ets-1 PNT domain (29-138) NMR structure ensemble [SOLUTION NMR]
Ras signaling requires dynamic properties of Ets1 for phosphorylation-enhanced binding to co-activator CBP [SOLUTION NMR]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034534
AA Change: I14N
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000034534
Gene: ENSMUSG00000032035
AA Change: I14N
| Domain | Start | End | E-Value | Type |
|---|
|
SAM_PNT
|
53 |
136 |
2.56e-48 |
SMART |
|
low complexity region
|
266 |
278 |
N/A |
INTRINSIC |
|
ETS
|
334 |
419 |
1.98e-57 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000050797
AA Change: I14N
PolyPhen 2
Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000051303
Gene: ENSMUSG00000032035
AA Change: I14N
| Domain | Start | End | E-Value | Type |
|---|
|
SAM_PNT
|
53 |
136 |
2.56e-48 |
SMART |
|
ETS
|
247 |
332 |
1.98e-57 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184364
AA Change: I14N
PolyPhen 2
Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000139107
Gene: ENSMUSG00000032035
AA Change: I14N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
62 |
N/A |
INTRINSIC |
|
ETS
|
118 |
203 |
1.98e-57 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000184887
AA Change: I14N
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000138951
Gene: ENSMUSG00000032035
AA Change: I14N
| Domain | Start | End | E-Value | Type |
|---|
|
SAM_PNT
|
53 |
136 |
2.56e-48 |
SMART |
|
| Meta Mutation Damage Score |
0.3188 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (47/47) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ETS family of transcription factors, which are defined by the presence of a conserved ETS DNA-binding domain that recognizes the core consensus DNA sequence GGAA/T in target genes. These proteins function either as transcriptional activators or repressors of numerous genes, and are involved in stem cell development, cell senescence and death, and tumorigenesis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011]
PHENOTYPE: Homozygotes for targeted null mutations exhibit reduced numbers of peripheral CD8+ T cells, impaired TCR-mediated activation of both CD4+ and CD8+ T cells, increased numbers of IgM-secreting plasma cells, and severely impaired NK cell development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bag6 |
T |
C |
17: 35,365,868 (GRCm39) |
Y1102H |
probably damaging |
Het |
| Cldn24 |
G |
A |
8: 48,275,740 (GRCm39) |
C188Y |
probably damaging |
Het |
| Dennd4c |
T |
C |
4: 86,713,377 (GRCm39) |
W443R |
probably damaging |
Het |
| Dmxl1 |
T |
A |
18: 50,088,938 (GRCm39) |
C2806S |
probably benign |
Het |
| Epb41l2 |
T |
C |
10: 25,355,036 (GRCm39) |
Y449H |
probably damaging |
Het |
| F11 |
A |
T |
8: 45,703,127 (GRCm39) |
F188I |
probably damaging |
Het |
| Fam13a |
C |
T |
6: 58,912,692 (GRCm39) |
V654I |
probably benign |
Het |
| Flt1 |
C |
T |
5: 147,613,135 (GRCm39) |
V369I |
probably benign |
Het |
| Focad |
T |
A |
4: 88,096,370 (GRCm39) |
Y251N |
probably damaging |
Het |
| Gm5150 |
A |
G |
3: 16,017,747 (GRCm39) |
S175P |
probably benign |
Het |
| Hnrnpul2 |
T |
A |
19: 8,797,994 (GRCm39) |
S117T |
probably benign |
Het |
| Kcnj5 |
A |
G |
9: 32,234,264 (GRCm39) |
V17A |
probably benign |
Het |
| Kctd1 |
T |
G |
18: 15,107,255 (GRCm39) |
T737P |
probably benign |
Het |
| Kif14 |
T |
C |
1: 136,422,392 (GRCm39) |
V894A |
probably damaging |
Het |
| Klhl12 |
A |
T |
1: 134,416,768 (GRCm39) |
T497S |
probably benign |
Het |
| Klhl6 |
C |
A |
16: 19,765,881 (GRCm39) |
V574L |
probably damaging |
Het |
| Lama1 |
A |
T |
17: 68,068,623 (GRCm39) |
D774V |
|
Het |
| Leng1 |
G |
A |
7: 3,665,809 (GRCm39) |
P176L |
probably benign |
Het |
| Lig1 |
T |
C |
7: 13,023,389 (GRCm39) |
L196P |
probably benign |
Het |
| Macrod1 |
C |
A |
19: 7,174,230 (GRCm39) |
Y245* |
probably null |
Het |
| Mcf2l |
T |
A |
8: 12,998,130 (GRCm39) |
I6N |
possibly damaging |
Het |
| Megf11 |
A |
G |
9: 64,599,146 (GRCm39) |
D687G |
possibly damaging |
Het |
| Muc4 |
A |
T |
16: 32,570,278 (GRCm39) |
H446L |
possibly damaging |
Het |
| Oasl2 |
A |
T |
5: 115,035,909 (GRCm39) |
I62F |
probably benign |
Het |
| Oog4 |
CAA |
CA |
4: 143,164,022 (GRCm39) |
|
probably null |
Het |
| Or14a257 |
A |
G |
7: 86,138,183 (GRCm39) |
V192A |
probably benign |
Het |
| Or4b12 |
A |
T |
2: 90,095,959 (GRCm39) |
F272I |
probably damaging |
Het |
| Or52e8 |
C |
A |
7: 104,624,332 (GRCm39) |
A291S |
possibly damaging |
Het |
| Pdcl2 |
T |
C |
5: 76,465,770 (GRCm39) |
N150S |
probably benign |
Het |
| Pfkfb3 |
A |
G |
2: 11,497,450 (GRCm39) |
Y54H |
probably damaging |
Het |
| Rab25 |
A |
T |
3: 88,452,270 (GRCm39) |
|
probably null |
Het |
| Slc22a18 |
G |
A |
7: 143,033,560 (GRCm39) |
G104S |
probably damaging |
Het |
| Slc44a5 |
T |
A |
3: 153,679,437 (GRCm39) |
|
probably null |
Het |
| Slc5a8 |
A |
G |
10: 88,757,561 (GRCm39) |
Y517C |
probably damaging |
Het |
| Spata18 |
A |
G |
5: 73,809,005 (GRCm39) |
N26S |
probably benign |
Het |
| Tas2r115 |
T |
A |
6: 132,714,643 (GRCm39) |
S103C |
probably damaging |
Het |
| Tigd2 |
T |
A |
6: 59,187,382 (GRCm39) |
M83K |
probably damaging |
Het |
| Tnxb |
T |
A |
17: 34,890,880 (GRCm39) |
C408S |
probably benign |
Het |
| Trbj2-3 |
T |
A |
6: 41,520,159 (GRCm39) |
S1R |
possibly damaging |
Het |
| Triobp |
T |
C |
15: 78,845,311 (GRCm39) |
|
probably null |
Het |
| Uaca |
A |
G |
9: 60,781,409 (GRCm39) |
Q1349R |
probably benign |
Het |
| Ube2j2 |
T |
A |
4: 156,040,885 (GRCm39) |
L171I |
probably damaging |
Het |
| Usp17ld |
C |
A |
7: 102,899,982 (GRCm39) |
G317W |
probably damaging |
Het |
| Vinac1 |
G |
A |
2: 128,880,964 (GRCm39) |
Q321* |
probably null |
Het |
| Vmn2r72 |
T |
A |
7: 85,404,098 (GRCm39) |
D31V |
probably benign |
Het |
| Zfp317 |
T |
G |
9: 19,559,251 (GRCm39) |
H488Q |
probably damaging |
Het |
|
| Other mutations in Ets1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00733:Ets1
|
APN |
9 |
32,664,222 (GRCm39) |
intron |
probably benign |
|
|
IGL00899:Ets1
|
APN |
9 |
32,664,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01615:Ets1
|
APN |
9 |
32,644,235 (GRCm39) |
splice site |
probably benign |
|
|
IGL01867:Ets1
|
APN |
9 |
32,645,455 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02424:Ets1
|
APN |
9 |
32,665,589 (GRCm39) |
nonsense |
probably null |
|
|
IGL03204:Ets1
|
APN |
9 |
32,644,308 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
Chamois
|
UTSW |
9 |
32,649,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Ecru
|
UTSW |
9 |
32,645,256 (GRCm39) |
nonsense |
probably null |
|
|
Fawn
|
UTSW |
9 |
32,664,153 (GRCm39) |
nonsense |
probably null |
|
|
R0479:Ets1
|
UTSW |
9 |
32,641,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0659:Ets1
|
UTSW |
9 |
32,649,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0839:Ets1
|
UTSW |
9 |
32,645,357 (GRCm39) |
nonsense |
probably null |
|
|
R5009:Ets1
|
UTSW |
9 |
32,644,295 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5590:Ets1
|
UTSW |
9 |
32,640,094 (GRCm39) |
splice site |
probably benign |
|
|
R6367:Ets1
|
UTSW |
9 |
32,645,256 (GRCm39) |
nonsense |
probably null |
|
|
R6423:Ets1
|
UTSW |
9 |
32,649,611 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6517:Ets1
|
UTSW |
9 |
32,664,093 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6584:Ets1
|
UTSW |
9 |
32,645,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7347:Ets1
|
UTSW |
9 |
32,644,328 (GRCm39) |
splice site |
probably null |
|
|
R7414:Ets1
|
UTSW |
9 |
32,664,153 (GRCm39) |
nonsense |
probably null |
|
|
R8730:Ets1
|
UTSW |
9 |
32,649,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8747:Ets1
|
UTSW |
9 |
32,641,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTTCGCTTTTGGGAGACG -3'
(R):5'- CGTTTTCCCATTAGTCACAAAACAC -3'
Sequencing Primer
(F):5'- ATTGGCTGCAGATGCTAAGC -3'
(R):5'- TGGCTTCTGCATCCAGTGCTCCT -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation