Incidental Mutation 'R2882:Ewsr1'
| ID |
260354 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ewsr1
|
| Ensembl Gene |
ENSMUSG00000009079 |
| Gene Name |
Ewing sarcoma breakpoint region 1 |
| Synonyms |
Ews |
| MMRRC Submission |
040470-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2882 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
5019689-5049266 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to A
at 5028523 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091057
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073308]
[ENSMUST00000079949]
[ENSMUST00000093365]
[ENSMUST00000102930]
|
| AlphaFold |
Q61545 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000073308
AA Change: V334L
|
| SMART Domains |
Protein: ENSMUSP00000073034
Gene: ENSMUSG00000009079
AA Change: V334L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
24 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
26 |
41 |
5.91e-6 |
PROSPERO |
|
low complexity region
|
51 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
91 |
121 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
155 |
170 |
5.91e-6 |
PROSPERO |
|
low complexity region
|
187 |
211 |
N/A |
INTRINSIC |
|
low complexity region
|
213 |
266 |
N/A |
INTRINSIC |
|
low complexity region
|
296 |
315 |
N/A |
INTRINSIC |
|
RRM
|
324 |
405 |
8.38e-17 |
SMART |
|
low complexity region
|
416 |
475 |
N/A |
INTRINSIC |
|
ZnF_RBZ
|
482 |
508 |
6.22e-7 |
SMART |
|
low complexity region
|
512 |
586 |
N/A |
INTRINSIC |
|
low complexity region
|
592 |
602 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000079949
AA Change: V371L
|
| SMART Domains |
Protein: ENSMUSP00000078867
Gene: ENSMUSG00000009079
AA Change: V371L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
24 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
26 |
41 |
2.98e-6 |
PROSPERO |
|
low complexity region
|
51 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
91 |
121 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
155 |
170 |
2.98e-6 |
PROSPERO |
|
low complexity region
|
187 |
211 |
N/A |
INTRINSIC |
|
low complexity region
|
213 |
266 |
N/A |
INTRINSIC |
|
low complexity region
|
300 |
331 |
N/A |
INTRINSIC |
|
low complexity region
|
335 |
356 |
N/A |
INTRINSIC |
|
RRM
|
361 |
442 |
8.38e-17 |
SMART |
|
low complexity region
|
453 |
512 |
N/A |
INTRINSIC |
|
ZnF_RBZ
|
519 |
545 |
6.22e-7 |
SMART |
|
low complexity region
|
549 |
623 |
N/A |
INTRINSIC |
|
low complexity region
|
629 |
639 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093365
|
| SMART Domains |
Protein: ENSMUSP00000091057
Gene: ENSMUSG00000009079
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
24 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
26 |
41 |
2.29e-5 |
PROSPERO |
|
low complexity region
|
51 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
91 |
121 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
155 |
170 |
2.29e-5 |
PROSPERO |
|
low complexity region
|
187 |
211 |
N/A |
INTRINSIC |
|
low complexity region
|
213 |
266 |
N/A |
INTRINSIC |
|
low complexity region
|
300 |
325 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000102930
AA Change: V377L
|
| SMART Domains |
Protein: ENSMUSP00000099994
Gene: ENSMUSG00000009079
AA Change: V377L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
24 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
26 |
41 |
3.23e-6 |
PROSPERO |
|
low complexity region
|
51 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
97 |
127 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
161 |
176 |
3.23e-6 |
PROSPERO |
|
low complexity region
|
193 |
217 |
N/A |
INTRINSIC |
|
low complexity region
|
219 |
272 |
N/A |
INTRINSIC |
|
low complexity region
|
306 |
337 |
N/A |
INTRINSIC |
|
low complexity region
|
341 |
362 |
N/A |
INTRINSIC |
|
RRM
|
367 |
448 |
8.38e-17 |
SMART |
|
low complexity region
|
459 |
518 |
N/A |
INTRINSIC |
|
ZnF_RBZ
|
525 |
551 |
6.22e-7 |
SMART |
|
low complexity region
|
555 |
629 |
N/A |
INTRINSIC |
|
low complexity region
|
635 |
645 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139886
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141002
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144238
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150168
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151497
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous mutant mice exhibit postnatal lethality, defective pre-B cell development, apoptosis of gametes and arrest in gamete maturation due to reduced meiotic recombination leading to infertility, kyphosis, lymphopenia, muscular atrophy, and hypersensitivity to ionizing radiation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp9a |
T |
C |
2: 168,548,134 (GRCm39) |
Y7C |
probably damaging |
Het |
| Atxn3 |
C |
A |
12: 101,903,670 (GRCm39) |
L178F |
probably damaging |
Het |
| Cep112 |
T |
C |
11: 108,410,038 (GRCm39) |
S211P |
possibly damaging |
Het |
| Csl |
A |
G |
10: 99,594,787 (GRCm39) |
F93L |
probably damaging |
Het |
| Cyp4f40 |
A |
G |
17: 32,887,047 (GRCm39) |
I173V |
probably benign |
Het |
| Dcaf17 |
A |
G |
2: 70,912,371 (GRCm39) |
I319V |
possibly damaging |
Het |
| Dock5 |
T |
C |
14: 68,077,069 (GRCm39) |
Y258C |
probably damaging |
Het |
| Dpp10 |
T |
C |
1: 123,372,932 (GRCm39) |
E236G |
probably damaging |
Het |
| Dpyd |
A |
G |
3: 118,858,679 (GRCm39) |
D631G |
probably damaging |
Het |
| Fat2 |
C |
A |
11: 55,202,131 (GRCm39) |
L314F |
probably damaging |
Het |
| Gsdmc |
T |
C |
15: 63,651,644 (GRCm39) |
I259V |
probably benign |
Het |
| Hydin |
C |
T |
8: 111,293,555 (GRCm39) |
L3501F |
possibly damaging |
Het |
| Kdm2a |
A |
G |
19: 4,381,212 (GRCm39) |
|
probably null |
Het |
| Klra1 |
A |
T |
6: 130,354,826 (GRCm39) |
|
probably null |
Het |
| Kremen1 |
CGGG |
CGGGGGG |
11: 5,151,791 (GRCm39) |
|
probably benign |
Het |
| Minar1 |
C |
T |
9: 89,484,855 (GRCm39) |
V181I |
possibly damaging |
Het |
| Mlh3 |
A |
T |
12: 85,314,340 (GRCm39) |
H615Q |
probably damaging |
Het |
| Mmp12 |
A |
G |
9: 7,358,236 (GRCm39) |
Y374C |
probably damaging |
Het |
| Mpp2 |
T |
C |
11: 101,955,459 (GRCm39) |
E97G |
probably benign |
Het |
| Oasl2 |
C |
T |
5: 115,049,084 (GRCm39) |
R175C |
probably damaging |
Het |
| Or1j19 |
A |
T |
2: 36,677,202 (GRCm39) |
I222F |
probably damaging |
Het |
| Pcdhac2 |
A |
T |
18: 37,278,865 (GRCm39) |
Q615L |
probably damaging |
Het |
| Ppm1h |
T |
A |
10: 122,777,239 (GRCm39) |
Y502N |
probably damaging |
Het |
| Slc5a11 |
GGTGC |
G |
7: 122,838,595 (GRCm39) |
|
probably null |
Het |
| Spata31d1e |
C |
A |
13: 59,890,757 (GRCm39) |
Q354H |
probably benign |
Het |
| Tex15 |
T |
A |
8: 34,064,935 (GRCm39) |
L1455* |
probably null |
Het |
| Tgm6 |
T |
C |
2: 129,979,359 (GRCm39) |
V163A |
probably benign |
Het |
| Tlr5 |
C |
T |
1: 182,801,458 (GRCm39) |
T240M |
probably damaging |
Het |
| Washc4 |
T |
C |
10: 83,415,365 (GRCm39) |
I785T |
possibly damaging |
Het |
|
| Other mutations in Ewsr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02000:Ewsr1
|
APN |
11 |
5,038,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02218:Ewsr1
|
APN |
11 |
5,020,668 (GRCm39) |
missense |
unknown |
|
|
IGL02288:Ewsr1
|
APN |
11 |
5,043,689 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02410:Ewsr1
|
APN |
11 |
5,043,863 (GRCm39) |
splice site |
probably benign |
|
|
R0485:Ewsr1
|
UTSW |
11 |
5,020,737 (GRCm39) |
splice site |
probably benign |
|
|
R0570:Ewsr1
|
UTSW |
11 |
5,035,935 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1546:Ewsr1
|
UTSW |
11 |
5,028,574 (GRCm39) |
unclassified |
probably benign |
|
|
R1688:Ewsr1
|
UTSW |
11 |
5,022,870 (GRCm39) |
missense |
unknown |
|
|
R2074:Ewsr1
|
UTSW |
11 |
5,021,555 (GRCm39) |
missense |
unknown |
|
|
R2158:Ewsr1
|
UTSW |
11 |
5,041,450 (GRCm39) |
splice site |
probably benign |
|
|
R2326:Ewsr1
|
UTSW |
11 |
5,041,857 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2880:Ewsr1
|
UTSW |
11 |
5,028,523 (GRCm39) |
unclassified |
probably benign |
|
|
R2881:Ewsr1
|
UTSW |
11 |
5,028,523 (GRCm39) |
unclassified |
probably benign |
|
|
R3965:Ewsr1
|
UTSW |
11 |
5,033,476 (GRCm39) |
missense |
unknown |
|
|
R4743:Ewsr1
|
UTSW |
11 |
5,033,541 (GRCm39) |
missense |
unknown |
|
|
R4782:Ewsr1
|
UTSW |
11 |
5,020,423 (GRCm39) |
missense |
unknown |
|
|
R5023:Ewsr1
|
UTSW |
11 |
5,038,054 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5194:Ewsr1
|
UTSW |
11 |
5,032,355 (GRCm39) |
missense |
unknown |
|
|
R5422:Ewsr1
|
UTSW |
11 |
5,030,668 (GRCm39) |
intron |
probably benign |
|
|
R5790:Ewsr1
|
UTSW |
11 |
5,032,263 (GRCm39) |
intron |
probably benign |
|
|
R6993:Ewsr1
|
UTSW |
11 |
5,021,573 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7719:Ewsr1
|
UTSW |
11 |
5,035,900 (GRCm39) |
missense |
unknown |
|
|
R9104:Ewsr1
|
UTSW |
11 |
5,041,367 (GRCm39) |
missense |
unknown |
|
|
R9380:Ewsr1
|
UTSW |
11 |
5,043,730 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9404:Ewsr1
|
UTSW |
11 |
5,022,940 (GRCm39) |
missense |
unknown |
|
|
R9613:Ewsr1
|
UTSW |
11 |
5,028,924 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACACAATCATCAGCTGCTTAGC -3'
(R):5'- CCGATTGGTTAAGAAGCCCC -3'
Sequencing Primer
(F):5'- GCCAGAATGCATGAGATCTTGTC -3'
(R):5'- AGAAGCCCCTATTATTATCTAGGCC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation