Incidental Mutation 'IGL02364:Eya3'
| ID |
290658 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Eya3
|
| Ensembl Gene |
ENSMUSG00000028886 |
| Gene Name |
EYA transcriptional coactivator and phosphatase 3 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.780)
|
| Stock # |
IGL02364
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
132366303-132452076 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 132437366 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 409
(S409P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078157
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020197]
[ENSMUST00000079157]
[ENSMUST00000081726]
[ENSMUST00000180250]
|
| AlphaFold |
P97480 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020197
AA Change: S315P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000020197
Gene: ENSMUSG00000028886
AA Change: S315P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
71 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
98 |
109 |
N/A |
INTRINSIC |
|
PDB:4EGC|B
|
132 |
416 |
1e-136 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079157
AA Change: S409P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078157
Gene: ENSMUSG00000028886
AA Change: S409P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
72 |
89 |
N/A |
INTRINSIC |
|
low complexity region
|
113 |
132 |
N/A |
INTRINSIC |
|
low complexity region
|
165 |
177 |
N/A |
INTRINSIC |
|
low complexity region
|
192 |
203 |
N/A |
INTRINSIC |
|
PDB:4EGC|B
|
226 |
510 |
1e-135 |
PDB |
|
SCOP:d1lvha_
|
345 |
507 |
8e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081726
AA Change: S425P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000080425
Gene: ENSMUSG00000028886
AA Change: S425P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
88 |
105 |
N/A |
INTRINSIC |
|
low complexity region
|
129 |
148 |
N/A |
INTRINSIC |
|
low complexity region
|
181 |
193 |
N/A |
INTRINSIC |
|
low complexity region
|
208 |
219 |
N/A |
INTRINSIC |
|
Pfam:Hydrolase
|
256 |
502 |
5.5e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130833
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142301
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145668
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153809
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000180250
AA Change: S315P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000136812
Gene: ENSMUSG00000028886
AA Change: S315P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
71 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
98 |
109 |
N/A |
INTRINSIC |
|
PDB:4EGC|B
|
132 |
416 |
1e-136 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157029
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator and have a role during development. It can act as a mediator of chemoresistance and cell survival in Ewing sarcoma cells, where this gene is up-regulated via a micro-RNA that binds to the 3' UTR of the transcript. A similar protein in mice acts as a transcriptional activator. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2013]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit abnormal heart function, decreased grip strength and increased exploratory behavior. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bdp1 |
A |
T |
13: 100,191,816 (GRCm39) |
|
probably benign |
Het |
| Car8 |
T |
C |
4: 8,183,321 (GRCm39) |
I225V |
probably benign |
Het |
| Cc2d2a |
T |
A |
5: 43,892,792 (GRCm39) |
N1390K |
probably damaging |
Het |
| Coasy |
T |
C |
11: 100,975,184 (GRCm39) |
V247A |
possibly damaging |
Het |
| Dgkq |
A |
G |
5: 108,804,310 (GRCm39) |
V50A |
probably benign |
Het |
| Dixdc1 |
A |
T |
9: 50,593,931 (GRCm39) |
|
probably benign |
Het |
| Dmxl2 |
G |
A |
9: 54,301,127 (GRCm39) |
A2328V |
probably benign |
Het |
| Exoc3l |
C |
A |
8: 106,017,209 (GRCm39) |
V593L |
possibly damaging |
Het |
| Garin4 |
T |
C |
1: 190,895,713 (GRCm39) |
N310S |
probably benign |
Het |
| Gbp4 |
A |
T |
5: 105,284,740 (GRCm39) |
S50T |
probably damaging |
Het |
| Gm5885 |
A |
G |
6: 133,507,092 (GRCm39) |
|
noncoding transcript |
Het |
| H2ap |
G |
T |
X: 9,713,629 (GRCm39) |
|
probably benign |
Het |
| Igkv12-89 |
A |
T |
6: 68,811,970 (GRCm39) |
Y66* |
probably null |
Het |
| Itgax |
G |
A |
7: 127,739,154 (GRCm39) |
V601M |
possibly damaging |
Het |
| Kank3 |
T |
C |
17: 34,037,824 (GRCm39) |
V291A |
probably benign |
Het |
| Klhl9 |
A |
G |
4: 88,639,407 (GRCm39) |
M278T |
probably damaging |
Het |
| Lrrc43 |
G |
A |
5: 123,639,275 (GRCm39) |
D435N |
possibly damaging |
Het |
| Ly75 |
A |
T |
2: 60,188,851 (GRCm39) |
S292T |
probably damaging |
Het |
| Mchr1 |
G |
A |
15: 81,121,480 (GRCm39) |
V77I |
probably benign |
Het |
| Mga |
T |
A |
2: 119,794,535 (GRCm39) |
C2622S |
possibly damaging |
Het |
| Neb |
G |
T |
2: 52,186,266 (GRCm39) |
Y935* |
probably null |
Het |
| Nt5el |
T |
A |
13: 105,218,808 (GRCm39) |
D47E |
probably damaging |
Het |
| Phf20 |
A |
G |
2: 156,136,017 (GRCm39) |
E612G |
possibly damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,271,007 (GRCm39) |
L3182P |
probably benign |
Het |
| Rnf130 |
T |
C |
11: 49,986,667 (GRCm39) |
V337A |
probably benign |
Het |
| Slfn10-ps |
T |
C |
11: 82,923,117 (GRCm39) |
|
noncoding transcript |
Het |
| Sorcs1 |
G |
A |
19: 50,322,036 (GRCm39) |
P249L |
probably damaging |
Het |
| Spata13 |
C |
T |
14: 60,928,723 (GRCm39) |
R94C |
probably damaging |
Het |
| Stk38 |
C |
T |
17: 29,210,390 (GRCm39) |
R63Q |
probably benign |
Het |
| Tmem220 |
C |
A |
11: 66,925,014 (GRCm39) |
H174N |
probably benign |
Het |
| Tmem68 |
C |
A |
4: 3,560,536 (GRCm39) |
R216L |
probably damaging |
Het |
| Trim29 |
G |
A |
9: 43,222,599 (GRCm39) |
V143M |
probably benign |
Het |
| Ubqln2 |
T |
C |
X: 152,282,906 (GRCm39) |
L486P |
possibly damaging |
Het |
| Usp17le |
G |
A |
7: 104,417,982 (GRCm39) |
Q387* |
probably null |
Het |
| Vps33b |
A |
G |
7: 79,937,587 (GRCm39) |
E445G |
probably damaging |
Het |
|
| Other mutations in Eya3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00479:Eya3
|
APN |
4 |
132,431,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01104:Eya3
|
APN |
4 |
132,439,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01109:Eya3
|
APN |
4 |
132,420,311 (GRCm39) |
nonsense |
probably null |
|
|
IGL01145:Eya3
|
APN |
4 |
132,437,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03008:Eya3
|
APN |
4 |
132,434,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03144:Eya3
|
APN |
4 |
132,420,453 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL03176:Eya3
|
APN |
4 |
132,439,233 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0279:Eya3
|
UTSW |
4 |
132,446,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0621:Eya3
|
UTSW |
4 |
132,422,113 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0893:Eya3
|
UTSW |
4 |
132,417,097 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1416:Eya3
|
UTSW |
4 |
132,434,440 (GRCm39) |
splice site |
probably benign |
|
|
R1834:Eya3
|
UTSW |
4 |
132,434,429 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1903:Eya3
|
UTSW |
4 |
132,448,663 (GRCm39) |
splice site |
probably null |
|
|
R4696:Eya3
|
UTSW |
4 |
132,397,543 (GRCm39) |
nonsense |
probably null |
|
|
R4739:Eya3
|
UTSW |
4 |
132,448,698 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4758:Eya3
|
UTSW |
4 |
132,422,196 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5061:Eya3
|
UTSW |
4 |
132,431,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5411:Eya3
|
UTSW |
4 |
132,417,090 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5479:Eya3
|
UTSW |
4 |
132,400,244 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6117:Eya3
|
UTSW |
4 |
132,439,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6343:Eya3
|
UTSW |
4 |
132,400,221 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6443:Eya3
|
UTSW |
4 |
132,439,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6460:Eya3
|
UTSW |
4 |
132,408,174 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7116:Eya3
|
UTSW |
4 |
132,422,110 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7418:Eya3
|
UTSW |
4 |
132,408,159 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7594:Eya3
|
UTSW |
4 |
132,422,136 (GRCm39) |
missense |
probably benign |
|
|
R7624:Eya3
|
UTSW |
4 |
132,400,262 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7811:Eya3
|
UTSW |
4 |
132,439,272 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9140:Eya3
|
UTSW |
4 |
132,428,411 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9642:Eya3
|
UTSW |
4 |
132,426,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation