Incidental Mutation 'R5936:Etv1'
| ID |
462280 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Etv1
|
| Ensembl Gene |
ENSMUSG00000004151 |
| Gene Name |
ets variant 1 |
| Synonyms |
Etsrp81, ER81 |
| MMRRC Submission |
044130-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.428)
|
| Stock # |
R5936 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
38829655-38920484 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 38885209 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 248
(H248Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124166
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095767]
[ENSMUST00000159334]
[ENSMUST00000160244]
[ENSMUST00000160701]
[ENSMUST00000160856]
[ENSMUST00000160996]
[ENSMUST00000161513]
[ENSMUST00000161980]
[ENSMUST00000162563]
|
| AlphaFold |
P41164 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095767
AA Change: H232Q
PolyPhen 2
Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000093442
Gene: ENSMUSG00000004151
AA Change: H232Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ETS_PEA3_N
|
1 |
333 |
5e-153 |
PFAM |
|
ETS
|
334 |
419 |
1.72e-57 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159334
AA Change: H192Q
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000125676
Gene: ENSMUSG00000004151
AA Change: H192Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ETS_PEA3_N
|
16 |
293 |
1.1e-112 |
PFAM |
|
ETS
|
294 |
379 |
1.72e-57 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160244
AA Change: H232Q
PolyPhen 2
Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000125733
Gene: ENSMUSG00000004151
AA Change: H232Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ETS_PEA3_N
|
1 |
310 |
2.5e-133 |
PFAM |
|
ETS
|
311 |
396 |
1.72e-57 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160701
AA Change: H129Q
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124019
Gene: ENSMUSG00000004151
AA Change: H129Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ETS_PEA3_N
|
14 |
82 |
1.4e-30 |
PFAM |
|
Pfam:ETS_PEA3_N
|
80 |
230 |
1.6e-68 |
PFAM |
|
ETS
|
231 |
316 |
1.72e-57 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160856
AA Change: H214Q
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000125692
Gene: ENSMUSG00000004151
AA Change: H214Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ETS_PEA3_N
|
1 |
315 |
3.8e-130 |
PFAM |
|
ETS
|
316 |
401 |
1.72e-57 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160996
AA Change: H214Q
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000124705
Gene: ENSMUSG00000004151
AA Change: H214Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ETS_PEA3_N
|
1 |
230 |
1.9e-85 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161513
AA Change: H248Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000124166
Gene: ENSMUSG00000004151
AA Change: H248Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ETS_PEA3_N
|
23 |
210 |
8.5e-71 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161980
AA Change: H174Q
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124736
Gene: ENSMUSG00000004151
AA Change: H174Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ETS_PEA3_N
|
10 |
275 |
3.2e-104 |
PFAM |
|
ETS
|
276 |
361 |
1.72e-57 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162563
AA Change: H232Q
PolyPhen 2
Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000125157
Gene: ENSMUSG00000004151
AA Change: H232Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ETS_PEA3_N
|
1 |
333 |
5.6e-150 |
PFAM |
|
ETS
|
334 |
419 |
1.72e-57 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162730
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161591
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220492
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.0%
|
| Validation Efficiency |
91% (77/85) |
| 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 (E twenty-six) family of transcription factors. The ETS proteins regulate many target genes that modulate biological processes like cell growth, angiogenesis, migration, proliferation and differentiation. All ETS proteins contain an ETS DNA-binding domain that binds to DNA sequences containing the consensus 5'-CGGA[AT]-3'. The protein encoded by this gene contains a conserved short acidic transactivation domain (TAD) in the N-terminal region, in addition to the ETS DNA-binding domain in the C-terminal region. This gene is involved in chromosomal translocations, which result in multiple fusion proteins including EWS-ETV1 in Ewing sarcoma and at least 10 ETV1 partners (see PMID: 19657377, Table 1) in prostate cancer. In addition to chromosomal rearrangement, this gene is overexpressed in prostate cancer, melanoma and gastrointestinal stromal tumor. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous inactivation of this gene leads to premature death, ataxia, impaired limb coordination, defects in muscle innervation, muscle spindle differentiation and sensory-motor connectivity, deficient golgi tendon organs, and absence of Pacinian corpuscles and their afferents. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933409G03Rik |
A |
T |
2: 68,445,848 (GRCm39) |
|
probably benign |
Het |
| Acnat2 |
T |
C |
4: 49,383,362 (GRCm39) |
T64A |
probably benign |
Het |
| Afap1 |
A |
G |
5: 36,131,740 (GRCm39) |
N356D |
possibly damaging |
Het |
| Ahi1 |
A |
G |
10: 20,841,832 (GRCm39) |
D301G |
probably damaging |
Het |
| Alpk2 |
G |
A |
18: 65,483,591 (GRCm39) |
T139M |
probably damaging |
Het |
| Ankrd46 |
T |
C |
15: 36,479,428 (GRCm39) |
D221G |
probably benign |
Het |
| Ano6 |
T |
A |
15: 95,870,482 (GRCm39) |
L900H |
probably damaging |
Het |
| Asphd2 |
G |
A |
5: 112,533,623 (GRCm39) |
R343* |
probably null |
Het |
| Atosa |
T |
C |
9: 74,916,586 (GRCm39) |
L395P |
probably benign |
Het |
| Brdt |
A |
G |
5: 107,507,261 (GRCm39) |
T554A |
probably damaging |
Het |
| Cacna1d |
A |
G |
14: 29,893,271 (GRCm39) |
V401A |
possibly damaging |
Het |
| Cbs |
T |
C |
17: 31,844,068 (GRCm39) |
T188A |
probably damaging |
Het |
| Cfap54 |
T |
A |
10: 92,798,274 (GRCm39) |
T1662S |
probably benign |
Het |
| Chka |
A |
G |
19: 3,934,580 (GRCm39) |
I205V |
probably benign |
Het |
| Chsy1 |
T |
A |
7: 65,822,025 (GRCm39) |
N753K |
possibly damaging |
Het |
| Cpz |
A |
G |
5: 35,659,987 (GRCm39) |
S553P |
probably benign |
Het |
| Crtac1 |
A |
G |
19: 42,312,276 (GRCm39) |
Y146H |
probably damaging |
Het |
| Csf1r |
A |
T |
18: 61,258,880 (GRCm39) |
I700F |
probably damaging |
Het |
| Ddx20 |
C |
A |
3: 105,587,903 (GRCm39) |
E392D |
possibly damaging |
Het |
| Dhrs11 |
G |
T |
11: 84,716,350 (GRCm39) |
Y67* |
probably null |
Het |
| Diaph3 |
G |
T |
14: 87,009,552 (GRCm39) |
Q1076K |
possibly damaging |
Het |
| Dop1a |
T |
A |
9: 86,418,565 (GRCm39) |
L2037* |
probably null |
Het |
| Dst |
G |
T |
1: 34,346,539 (GRCm39) |
V5336L |
probably damaging |
Het |
| Fcgbp |
T |
C |
7: 27,786,117 (GRCm39) |
V518A |
probably damaging |
Het |
| Fchsd2 |
T |
C |
7: 100,840,908 (GRCm39) |
L139S |
probably damaging |
Het |
| Fer |
A |
T |
17: 64,231,058 (GRCm39) |
T270S |
probably benign |
Het |
| Fgd5 |
A |
G |
6: 91,964,892 (GRCm39) |
E375G |
probably damaging |
Het |
| Firrm |
T |
G |
1: 163,814,581 (GRCm39) |
I121L |
probably benign |
Het |
| Gabarapl1 |
T |
A |
6: 129,515,566 (GRCm39) |
I68N |
probably benign |
Het |
| Gopc |
C |
T |
10: 52,222,295 (GRCm39) |
V30M |
probably damaging |
Het |
| Hbp1 |
T |
C |
12: 31,987,095 (GRCm39) |
|
probably null |
Het |
| Helz2 |
A |
G |
2: 180,872,560 (GRCm39) |
V2480A |
probably damaging |
Het |
| Igfbp3 |
T |
A |
11: 7,159,472 (GRCm39) |
Y247F |
probably damaging |
Het |
| Kbtbd11 |
C |
A |
8: 15,077,534 (GRCm39) |
S44R |
probably benign |
Het |
| Kcnk10 |
G |
T |
12: 98,456,191 (GRCm39) |
S213R |
probably benign |
Het |
| Kcnq3 |
T |
A |
15: 65,871,959 (GRCm39) |
D570V |
probably damaging |
Het |
| Kif21a |
A |
G |
15: 90,819,850 (GRCm39) |
F1594S |
possibly damaging |
Het |
| Klf3 |
A |
G |
5: 64,980,303 (GRCm39) |
D31G |
probably damaging |
Het |
| Mapkapk3 |
T |
C |
9: 107,166,369 (GRCm39) |
K59E |
probably damaging |
Het |
| Myo18a |
A |
G |
11: 77,709,039 (GRCm39) |
T484A |
probably damaging |
Het |
| Nlrp6 |
T |
A |
7: 140,502,725 (GRCm39) |
L277* |
probably null |
Het |
| Nr5a1 |
G |
T |
2: 38,591,790 (GRCm39) |
|
probably benign |
Het |
| Nsmaf |
C |
T |
4: 6,421,017 (GRCm39) |
|
probably benign |
Het |
| Or4f58 |
T |
A |
2: 111,851,932 (GRCm39) |
H89L |
probably benign |
Het |
| Orc1 |
A |
G |
4: 108,459,180 (GRCm39) |
T450A |
probably benign |
Het |
| Pacsin1 |
A |
T |
17: 27,923,971 (GRCm39) |
I122F |
probably benign |
Het |
| Pced1b |
T |
A |
15: 97,283,061 (GRCm39) |
Y367N |
possibly damaging |
Het |
| Pced1b |
T |
A |
15: 97,283,063 (GRCm39) |
Y367* |
probably null |
Het |
| Pdpk1 |
A |
G |
17: 24,312,203 (GRCm39) |
F281L |
probably damaging |
Het |
| Piwil1 |
T |
C |
5: 128,828,142 (GRCm39) |
V714A |
probably benign |
Het |
| Plcd3 |
C |
T |
11: 102,969,173 (GRCm39) |
V265M |
probably damaging |
Het |
| Ppp1r1c |
A |
T |
2: 79,586,798 (GRCm39) |
E48V |
possibly damaging |
Het |
| Prl2b1 |
T |
G |
13: 27,572,432 (GRCm39) |
T53P |
probably damaging |
Het |
| Ptch2 |
T |
G |
4: 116,965,491 (GRCm39) |
F359V |
probably benign |
Het |
| R3hdm2 |
G |
A |
10: 127,307,681 (GRCm39) |
S314N |
probably damaging |
Het |
| Rictor |
A |
T |
15: 6,813,642 (GRCm39) |
S1043C |
probably damaging |
Het |
| Rtn4rl2 |
A |
T |
2: 84,710,775 (GRCm39) |
L163Q |
probably damaging |
Het |
| Sarnp |
T |
A |
10: 128,684,640 (GRCm39) |
S129T |
probably benign |
Het |
| Scube3 |
A |
T |
17: 28,384,461 (GRCm39) |
K585M |
probably damaging |
Het |
| Sgk3 |
C |
T |
1: 9,956,045 (GRCm39) |
|
probably benign |
Het |
| Skint6 |
C |
T |
4: 112,953,790 (GRCm39) |
S458N |
probably benign |
Het |
| Slc25a54 |
A |
G |
3: 109,005,954 (GRCm39) |
H154R |
possibly damaging |
Het |
| Sorbs1 |
A |
C |
19: 40,313,216 (GRCm39) |
I690S |
probably damaging |
Het |
| Sqle |
C |
A |
15: 59,202,678 (GRCm39) |
A512D |
probably damaging |
Het |
| Tedc2 |
A |
C |
17: 24,435,315 (GRCm39) |
L358R |
probably damaging |
Het |
| Tfr2 |
A |
G |
5: 137,585,268 (GRCm39) |
S767G |
probably benign |
Het |
| Thoc5 |
A |
G |
11: 4,854,133 (GRCm39) |
E27G |
probably damaging |
Het |
| Trappc8 |
A |
T |
18: 21,007,745 (GRCm39) |
F123L |
probably damaging |
Het |
| Ube3d |
C |
T |
9: 86,254,512 (GRCm39) |
G323D |
probably benign |
Het |
| Unc13c |
T |
A |
9: 73,485,774 (GRCm39) |
H1642L |
probably damaging |
Het |
| Vmn1r10 |
A |
T |
6: 57,091,302 (GRCm39) |
H298L |
probably benign |
Het |
| Xpo4 |
A |
T |
14: 57,880,956 (GRCm39) |
Y26N |
probably benign |
Het |
| Zer1 |
A |
G |
2: 29,997,679 (GRCm39) |
L409P |
probably damaging |
Het |
| Zfyve28 |
A |
T |
5: 34,382,332 (GRCm39) |
L256Q |
probably damaging |
Het |
| Zgrf1 |
A |
G |
3: 127,355,902 (GRCm39) |
E376G |
possibly damaging |
Het |
|
| Other mutations in Etv1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01113:Etv1
|
APN |
12 |
38,831,791 (GRCm39) |
splice site |
probably benign |
|
|
IGL01376:Etv1
|
APN |
12 |
38,907,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01387:Etv1
|
APN |
12 |
38,911,326 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01936:Etv1
|
APN |
12 |
38,885,060 (GRCm39) |
splice site |
probably benign |
|
|
IGL02388:Etv1
|
APN |
12 |
38,831,798 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL02933:Etv1
|
APN |
12 |
38,831,832 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0844:Etv1
|
UTSW |
12 |
38,911,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0993:Etv1
|
UTSW |
12 |
38,877,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1187:Etv1
|
UTSW |
12 |
38,915,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1710:Etv1
|
UTSW |
12 |
38,902,261 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2094:Etv1
|
UTSW |
12 |
38,885,115 (GRCm39) |
missense |
probably null |
1.00 |
|
R2879:Etv1
|
UTSW |
12 |
38,833,809 (GRCm39) |
splice site |
probably null |
|
|
R3607:Etv1
|
UTSW |
12 |
38,881,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4353:Etv1
|
UTSW |
12 |
38,907,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4646:Etv1
|
UTSW |
12 |
38,915,685 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4678:Etv1
|
UTSW |
12 |
38,885,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4768:Etv1
|
UTSW |
12 |
38,877,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4812:Etv1
|
UTSW |
12 |
38,911,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4877:Etv1
|
UTSW |
12 |
38,881,292 (GRCm39) |
splice site |
probably null |
|
|
R5024:Etv1
|
UTSW |
12 |
38,904,233 (GRCm39) |
splice site |
probably null |
|
|
R5253:Etv1
|
UTSW |
12 |
38,902,248 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6085:Etv1
|
UTSW |
12 |
38,904,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6167:Etv1
|
UTSW |
12 |
38,915,640 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6709:Etv1
|
UTSW |
12 |
38,833,796 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7046:Etv1
|
UTSW |
12 |
38,834,369 (GRCm39) |
splice site |
probably null |
|
|
R7243:Etv1
|
UTSW |
12 |
38,907,045 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7616:Etv1
|
UTSW |
12 |
38,915,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8230:Etv1
|
UTSW |
12 |
38,830,935 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R9021:Etv1
|
UTSW |
12 |
38,830,971 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9182:Etv1
|
UTSW |
12 |
38,830,716 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9687:Etv1
|
UTSW |
12 |
38,911,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACACTAGCAGCTAGGAATTATG -3'
(R):5'- TGGTTAGATGGCACCCAGTC -3'
Sequencing Primer
(F):5'- ACTAGCAGCTAGGAATTATGTAAGTC -3'
(R):5'- GTTAGATGGCACCCAGTCTAACAAC -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation