Incidental Mutation 'R3965:Ewsr1'
| ID |
312315 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ewsr1
|
| Ensembl Gene |
ENSMUSG00000009079 |
| Gene Name |
Ewing sarcoma breakpoint region 1 |
| Synonyms |
Ews |
| MMRRC Submission |
040934-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3965 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
5019689-5049266 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 5033476 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 232
(Y232C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099994
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073308]
[ENSMUST00000079949]
[ENSMUST00000093365]
[ENSMUST00000102930]
|
| AlphaFold |
Q61545 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000073308
AA Change: Y226C
|
| SMART Domains |
Protein: ENSMUSP00000073034
Gene: ENSMUSG00000009079
AA Change: Y226C
| 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: Y226C
|
| SMART Domains |
Protein: ENSMUSP00000078867
Gene: ENSMUSG00000009079
AA Change: Y226C
| 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 |
unknown
Transcript: ENSMUST00000093365
AA Change: Y226C
|
| SMART Domains |
Protein: ENSMUSP00000091057
Gene: ENSMUSG00000009079
AA Change: Y226C
| 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: Y232C
|
| SMART Domains |
Protein: ENSMUSP00000099994
Gene: ENSMUSG00000009079
AA Change: Y232C
| 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: ENSMUST00000151497
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150168
|
| Meta Mutation Damage Score |
0.1000 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (49/49) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| C1galt1c1 |
A |
T |
X: 37,720,453 (GRCm39) |
V181E |
probably benign |
Het |
| Ccdc121 |
T |
A |
5: 31,645,335 (GRCm39) |
C363S |
probably benign |
Het |
| Cep70 |
T |
A |
9: 99,180,587 (GRCm39) |
F581I |
probably damaging |
Het |
| Cfap74 |
T |
A |
4: 155,531,174 (GRCm39) |
M809K |
probably damaging |
Het |
| Clic6 |
T |
C |
16: 92,295,732 (GRCm39) |
S131P |
probably benign |
Het |
| Ctc1 |
T |
A |
11: 68,921,954 (GRCm39) |
V800D |
probably damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dlec1 |
A |
G |
9: 118,957,649 (GRCm39) |
I878V |
probably benign |
Het |
| Elapor1 |
T |
C |
3: 108,365,765 (GRCm39) |
D998G |
probably damaging |
Het |
| Esyt3 |
T |
A |
9: 99,202,375 (GRCm39) |
D512V |
probably damaging |
Het |
| Exoc2 |
G |
A |
13: 31,061,565 (GRCm39) |
S492L |
probably benign |
Het |
| Gprc6a |
CAAA |
CA |
10: 51,491,776 (GRCm39) |
|
probably null |
Het |
| Grin2c |
G |
A |
11: 115,151,820 (GRCm39) |
R47W |
probably damaging |
Het |
| Igfn1 |
T |
C |
1: 135,895,557 (GRCm39) |
T1670A |
probably benign |
Het |
| Med31 |
C |
T |
11: 72,102,755 (GRCm39) |
A118T |
probably benign |
Het |
| Mia2 |
T |
A |
12: 59,223,158 (GRCm39) |
S489T |
probably damaging |
Het |
| Mov10l1 |
A |
G |
15: 88,896,366 (GRCm39) |
I737V |
probably benign |
Het |
| Muc2 |
G |
A |
7: 141,286,233 (GRCm39) |
R120H |
probably benign |
Het |
| Nckap1l |
T |
A |
15: 103,373,016 (GRCm39) |
C276* |
probably null |
Het |
| Nrap |
T |
C |
19: 56,330,576 (GRCm39) |
S1126G |
probably damaging |
Het |
| Oas1c |
A |
G |
5: 120,946,783 (GRCm39) |
F16L |
probably damaging |
Het |
| Or10g9 |
A |
T |
9: 39,911,767 (GRCm39) |
V252E |
possibly damaging |
Het |
| Or1ab2 |
G |
A |
8: 72,864,108 (GRCm39) |
G233R |
probably damaging |
Het |
| Or5b123 |
T |
C |
19: 13,596,565 (GRCm39) |
L13P |
probably damaging |
Het |
| Or8b51 |
G |
A |
9: 38,569,023 (GRCm39) |
L222F |
probably benign |
Het |
| Pik3c2g |
A |
G |
6: 139,801,018 (GRCm39) |
M388V |
possibly damaging |
Het |
| Pls1 |
T |
C |
9: 95,667,665 (GRCm39) |
Q81R |
probably benign |
Het |
| Pole |
A |
G |
5: 110,460,648 (GRCm39) |
K1143E |
probably damaging |
Het |
| Ppp6r2 |
A |
G |
15: 89,143,317 (GRCm39) |
K155E |
probably benign |
Het |
| Rxra |
T |
A |
2: 27,642,318 (GRCm39) |
|
probably benign |
Het |
| Susd5 |
A |
G |
9: 113,925,260 (GRCm39) |
E381G |
possibly damaging |
Het |
| Svs5 |
T |
C |
2: 164,079,662 (GRCm39) |
T82A |
possibly damaging |
Het |
| Syt14 |
A |
T |
1: 192,584,175 (GRCm39) |
H413Q |
probably benign |
Het |
| Tg |
T |
A |
15: 66,556,039 (GRCm39) |
D910E |
probably benign |
Het |
| Timd5 |
T |
A |
11: 46,426,340 (GRCm39) |
V149D |
possibly damaging |
Het |
| Tpcn1 |
G |
T |
5: 120,694,640 (GRCm39) |
T143K |
probably damaging |
Het |
| Trbv5 |
G |
T |
6: 41,039,342 (GRCm39) |
|
probably benign |
Het |
| Trhr |
T |
A |
15: 44,061,095 (GRCm39) |
I205N |
possibly damaging |
Het |
| Trp73 |
A |
G |
4: 154,146,493 (GRCm39) |
V422A |
probably benign |
Het |
| Trpc6 |
G |
A |
9: 8,626,622 (GRCm39) |
C324Y |
probably damaging |
Het |
| Upf1 |
C |
T |
8: 70,791,110 (GRCm39) |
R544H |
probably damaging |
Het |
| Zfhx4 |
G |
T |
3: 5,468,907 (GRCm39) |
V3022F |
probably damaging |
Het |
| Zswim8 |
G |
A |
14: 20,763,141 (GRCm39) |
V347I |
probably benign |
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 |
|
|
R2882:Ewsr1
|
UTSW |
11 |
5,028,523 (GRCm39) |
unclassified |
probably benign |
|
|
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'- TATAGTGCACACTCACACTCTAG -3'
(R):5'- CCTGTGAATGTCTCATATTCTTGG -3'
Sequencing Primer
(F):5'- TCTAGACTCCAGAAGCAAACAGTGG -3'
(R):5'- GGCAGAAATAACATGATTTTTCTCC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation