Incidental Mutation 'R2880:Ewsr1'
| ID |
260285 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ewsr1
|
| Ensembl Gene |
ENSMUSG00000009079 |
| Gene Name |
Ewing sarcoma breakpoint region 1 |
| Synonyms |
Ews |
| MMRRC Submission |
040468-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2880 (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: 97.4%
- 20x: 95.5%
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano4 |
C |
T |
10: 88,948,661 (GRCm39) |
E150K |
probably damaging |
Het |
| Blnk |
T |
C |
19: 40,950,899 (GRCm39) |
Y84C |
probably damaging |
Het |
| Brinp3 |
G |
A |
1: 146,777,740 (GRCm39) |
R729H |
probably damaging |
Het |
| Bsn |
C |
T |
9: 107,990,266 (GRCm39) |
A1829T |
possibly damaging |
Het |
| Cd300c |
A |
T |
11: 114,850,616 (GRCm39) |
N62K |
probably benign |
Het |
| Chd3 |
T |
C |
11: 69,242,946 (GRCm39) |
D1425G |
probably damaging |
Het |
| Gm4076 |
G |
A |
13: 85,275,357 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9637 |
A |
G |
14: 19,401,978 (GRCm38) |
|
noncoding transcript |
Het |
| Greb1l |
A |
T |
18: 10,547,288 (GRCm39) |
N1502I |
possibly damaging |
Het |
| H13 |
A |
G |
2: 152,537,481 (GRCm39) |
M309V |
probably damaging |
Het |
| Lmf2 |
A |
G |
15: 89,235,856 (GRCm39) |
S683P |
possibly damaging |
Het |
| Lrit1 |
T |
A |
14: 36,779,394 (GRCm39) |
L109Q |
probably damaging |
Het |
| Maml2 |
A |
T |
9: 13,531,893 (GRCm39) |
|
probably null |
Het |
| Map3k14 |
C |
A |
11: 103,111,858 (GRCm39) |
R941L |
probably damaging |
Het |
| Megf6 |
A |
G |
4: 154,337,006 (GRCm39) |
K262E |
probably damaging |
Het |
| Mtnr1b |
T |
G |
9: 15,774,102 (GRCm39) |
Y319S |
probably damaging |
Het |
| Myh8 |
A |
G |
11: 67,188,090 (GRCm39) |
K954R |
probably damaging |
Het |
| Myof |
T |
C |
19: 37,911,473 (GRCm39) |
D1486G |
probably benign |
Het |
| Nbea |
A |
G |
3: 55,554,779 (GRCm39) |
V2623A |
probably benign |
Het |
| Pak1 |
T |
A |
7: 97,554,018 (GRCm39) |
Y463N |
probably damaging |
Het |
| Pex5l |
T |
A |
3: 33,047,152 (GRCm39) |
|
probably null |
Het |
| Rasa4 |
T |
C |
5: 136,120,625 (GRCm39) |
V87A |
probably damaging |
Het |
| Rnf112 |
G |
A |
11: 61,341,293 (GRCm39) |
H431Y |
possibly damaging |
Het |
| Slc25a30 |
A |
G |
14: 76,007,651 (GRCm39) |
V118A |
probably benign |
Het |
| Slc4a7 |
T |
A |
14: 14,773,277 (GRCm38) |
I872K |
probably damaging |
Het |
| Slc5a11 |
GGTGC |
G |
7: 122,838,595 (GRCm39) |
|
probably null |
Het |
| Sycp1 |
T |
C |
3: 102,726,214 (GRCm39) |
E970G |
probably damaging |
Het |
| Tex15 |
T |
A |
8: 34,064,935 (GRCm39) |
L1455* |
probably null |
Het |
| Tgfb2 |
T |
A |
1: 186,436,752 (GRCm39) |
T74S |
probably damaging |
Het |
| Vmn2r65 |
A |
T |
7: 84,613,094 (GRCm39) |
C42S |
probably damaging |
Het |
| Zbtb12 |
T |
A |
17: 35,114,455 (GRCm39) |
I80N |
probably 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 |
|
|
R2881:Ewsr1
|
UTSW |
11 |
5,028,523 (GRCm39) |
unclassified |
probably benign |
|
|
R2882: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'- CACAATCATCAGCTGCTTAGC -3'
(R):5'- GTCCGATTGGTTAAGAAGCCC -3'
Sequencing Primer
(F):5'- GCCAGAATGCATGAGATCTTGTC -3'
(R):5'- AGAAGCCCCTATTATTATCTAGGCC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation