Incidental Mutation 'IGL02000:Ewsr1'
| ID |
183022 |
| 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 # |
IGL02000
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
5019689-5049266 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 5038077 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 105
(D105G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099994
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063232]
[ENSMUST00000073308]
[ENSMUST00000079949]
[ENSMUST00000093365]
[ENSMUST00000102930]
|
| AlphaFold |
Q61545 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063232
|
| SMART Domains |
Protein: ENSMUSP00000066827
Gene: ENSMUSG00000009079
| 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: D99G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000073034
Gene: ENSMUSG00000009079
AA Change: D99G
| 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 |
possibly damaging
Transcript: ENSMUST00000079949
AA Change: D99G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000078867
Gene: ENSMUSG00000009079
AA Change: D99G
| 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 damaging
Transcript: ENSMUST00000093365
AA Change: D99G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000091057
Gene: ENSMUSG00000009079
AA Change: D99G
| 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 damaging
Transcript: ENSMUST00000102930
AA Change: D105G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099994
Gene: ENSMUSG00000009079
AA Change: D105G
| 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: ENSMUST00000144238
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid5a |
T |
C |
1: 36,358,578 (GRCm39) |
F450S |
probably damaging |
Het |
| Astn1 |
C |
T |
1: 158,502,184 (GRCm39) |
R1133C |
probably damaging |
Het |
| Cd101 |
G |
A |
3: 100,919,398 (GRCm39) |
P568L |
probably benign |
Het |
| Cdkl4 |
T |
C |
17: 80,851,192 (GRCm39) |
E170G |
probably damaging |
Het |
| Chit1 |
A |
G |
1: 134,074,413 (GRCm39) |
E240G |
probably benign |
Het |
| Duox2 |
T |
C |
2: 122,121,190 (GRCm39) |
T741A |
probably benign |
Het |
| Eef2 |
T |
C |
10: 81,015,845 (GRCm39) |
V427A |
probably benign |
Het |
| Ftsj3 |
C |
T |
11: 106,141,233 (GRCm39) |
R629Q |
probably benign |
Het |
| Gm10406 |
C |
T |
14: 18,341,703 (GRCm39) |
G181E |
probably benign |
Het |
| Ilk |
A |
G |
7: 105,390,376 (GRCm39) |
H185R |
probably benign |
Het |
| Lamc1 |
A |
T |
1: 153,116,179 (GRCm39) |
C1001S |
probably damaging |
Het |
| Mcidas |
T |
C |
13: 113,133,974 (GRCm39) |
S153P |
probably benign |
Het |
| Mtcl1 |
T |
C |
17: 66,661,185 (GRCm39) |
E931G |
probably benign |
Het |
| Myo10 |
C |
T |
15: 25,808,152 (GRCm39) |
R1925C |
probably damaging |
Het |
| Notch3 |
A |
G |
17: 32,341,716 (GRCm39) |
V2012A |
probably damaging |
Het |
| Or6c76 |
C |
A |
10: 129,611,938 (GRCm39) |
H67N |
probably benign |
Het |
| Parp6 |
A |
G |
9: 59,556,175 (GRCm39) |
M542V |
probably benign |
Het |
| Rab27a |
G |
A |
9: 72,992,254 (GRCm39) |
G94D |
probably damaging |
Het |
| Ralgapb |
A |
G |
2: 158,296,034 (GRCm39) |
|
probably benign |
Het |
| Rassf4 |
T |
C |
6: 116,622,933 (GRCm39) |
E26G |
probably benign |
Het |
| Rnf166 |
C |
T |
8: 123,193,961 (GRCm39) |
D221N |
probably damaging |
Het |
| Rptn |
G |
T |
3: 93,303,735 (GRCm39) |
G356V |
probably benign |
Het |
| Rwdd2b |
T |
A |
16: 87,233,828 (GRCm39) |
|
probably benign |
Het |
| Scfd1 |
T |
A |
12: 51,460,900 (GRCm39) |
S337T |
probably benign |
Het |
| Sel1l3 |
T |
A |
5: 53,302,835 (GRCm39) |
D678V |
probably damaging |
Het |
| Sidt1 |
A |
T |
16: 44,106,732 (GRCm39) |
F233I |
probably damaging |
Het |
| Slc12a4 |
T |
C |
8: 106,671,864 (GRCm39) |
D917G |
probably damaging |
Het |
| Slc22a2 |
A |
T |
17: 12,803,270 (GRCm39) |
I35F |
possibly damaging |
Het |
| Smco1 |
A |
T |
16: 32,092,751 (GRCm39) |
T141S |
possibly damaging |
Het |
| Svs6 |
T |
C |
2: 164,159,352 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
C |
T |
12: 76,062,419 (GRCm39) |
A4247V |
probably damaging |
Het |
| Tacc2 |
T |
A |
7: 130,330,898 (GRCm39) |
|
probably null |
Het |
| Tgm4 |
A |
T |
9: 122,885,531 (GRCm39) |
I358F |
probably damaging |
Het |
| Thnsl2 |
A |
G |
6: 71,111,203 (GRCm39) |
S222P |
probably damaging |
Het |
| Tmem25 |
G |
A |
9: 44,709,568 (GRCm39) |
R78* |
probably null |
Het |
| Ube2l6 |
T |
C |
2: 84,639,506 (GRCm39) |
|
probably benign |
Het |
| Usp10 |
T |
A |
8: 120,675,480 (GRCm39) |
Y63N |
possibly damaging |
Het |
| Vit |
A |
G |
17: 78,912,915 (GRCm39) |
I283V |
possibly damaging |
Het |
| Vmn1r214 |
G |
A |
13: 23,219,270 (GRCm39) |
V255I |
possibly damaging |
Het |
| Xpo1 |
A |
G |
11: 23,246,003 (GRCm39) |
R1038G |
probably damaging |
Het |
| Ybx1 |
T |
A |
4: 119,139,509 (GRCm39) |
N50I |
probably damaging |
Het |
| Zhx1 |
T |
C |
15: 57,917,683 (GRCm39) |
K188E |
probably damaging |
Het |
|
| Other mutations in Ewsr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
2014-05-07 |
Incidental Mutation