Incidental Mutation 'IGL02288:Ewsr1'
| ID |
290011 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ewsr1
|
| Ensembl Gene |
ENSMUSG00000009079 |
| Gene Name |
Ewing sarcoma breakpoint region 1 |
| Synonyms |
Ews |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02288
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
5019689-5049266 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 5043689 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 32
(T32A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073034
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063232]
[ENSMUST00000073308]
[ENSMUST00000079949]
[ENSMUST00000093365]
[ENSMUST00000102930]
|
| AlphaFold |
Q61545 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063232
AA Change: T32A
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000066827
Gene: ENSMUSG00000009079
AA Change: T32A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
51 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
97 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000073308
AA Change: T32A
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000073034
Gene: ENSMUSG00000009079
AA Change: T32A
| 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 |
probably benign
Transcript: ENSMUST00000079949
AA Change: T32A
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000078867
Gene: ENSMUSG00000009079
AA Change: T32A
| 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
AA Change: T32A
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000091057
Gene: ENSMUSG00000009079
AA Change: T32A
| 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 |
probably benign
Transcript: ENSMUST00000102930
AA Change: T32A
PolyPhen 2
Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000099994
Gene: ENSMUSG00000009079
AA Change: T32A
| 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: ENSMUST00000151847
|
| Coding Region Coverage |
|
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid1b |
A |
G |
17: 5,314,315 (GRCm39) |
M706V |
possibly damaging |
Het |
| Clec1b |
T |
A |
6: 129,374,586 (GRCm39) |
D3E |
probably damaging |
Het |
| Dqx1 |
A |
G |
6: 83,037,309 (GRCm39) |
H324R |
probably damaging |
Het |
| Ep400 |
A |
G |
5: 110,831,702 (GRCm39) |
|
probably benign |
Het |
| Exoc1 |
C |
A |
5: 76,693,160 (GRCm39) |
H349N |
probably benign |
Het |
| Fgg |
T |
C |
3: 82,915,460 (GRCm39) |
Y26H |
probably benign |
Het |
| Gpld1 |
T |
A |
13: 25,163,666 (GRCm39) |
Y41* |
probably null |
Het |
| Gpr152 |
A |
G |
19: 4,193,694 (GRCm39) |
M412V |
probably benign |
Het |
| Matn2 |
T |
A |
15: 34,422,532 (GRCm39) |
C540S |
probably damaging |
Het |
| Nars1 |
T |
C |
18: 64,643,606 (GRCm39) |
|
probably benign |
Het |
| Ncor1 |
A |
G |
11: 62,240,229 (GRCm39) |
I914T |
probably benign |
Het |
| Or1e33 |
A |
G |
11: 73,738,207 (GRCm39) |
V248A |
possibly damaging |
Het |
| Or4k42 |
A |
T |
2: 111,320,065 (GRCm39) |
F146Y |
probably benign |
Het |
| Rev3l |
T |
C |
10: 39,704,212 (GRCm39) |
L2086P |
probably benign |
Het |
| Snrnp200 |
T |
A |
2: 127,071,815 (GRCm39) |
I1165N |
probably damaging |
Het |
| Spindoc |
G |
A |
19: 7,335,667 (GRCm39) |
Q374* |
probably null |
Het |
| Thsd1 |
A |
C |
8: 22,749,565 (GRCm39) |
D751A |
probably damaging |
Het |
| Ttll4 |
G |
A |
1: 74,718,560 (GRCm39) |
R137H |
probably benign |
Het |
| Vmn2r70 |
T |
A |
7: 85,214,342 (GRCm39) |
Y270F |
probably benign |
Het |
| Zscan20 |
A |
G |
4: 128,480,436 (GRCm39) |
I685T |
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 |
|
|
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 |
|
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation