Incidental Mutation 'IGL03144:Eya3'
| ID |
410834 |
| 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 # |
IGL03144
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
132366303-132452076 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 132420453 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 256
(S256P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123045
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020197]
[ENSMUST00000079157]
[ENSMUST00000081726]
[ENSMUST00000135299]
[ENSMUST00000180250]
|
| AlphaFold |
P97480 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020197
AA Change: S100P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000020197
Gene: ENSMUSG00000028886
AA Change: S100P
| 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 benign
Transcript: ENSMUST00000079157
AA Change: S194P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000078157
Gene: ENSMUSG00000028886
AA Change: S194P
| 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 benign
Transcript: ENSMUST00000081726
AA Change: S210P
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000080425
Gene: ENSMUSG00000028886
AA Change: S210P
| 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: ENSMUST00000127682
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134868
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135299
AA Change: S256P
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000123045
Gene: ENSMUSG00000028886
AA Change: S256P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
88 |
105 |
N/A |
INTRINSIC |
|
low complexity region
|
175 |
194 |
N/A |
INTRINSIC |
|
low complexity region
|
227 |
239 |
N/A |
INTRINSIC |
|
low complexity region
|
254 |
265 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142301
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180250
AA Change: S100P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000136812
Gene: ENSMUSG00000028886
AA Change: S100P
| 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: ENSMUST00000145668
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142998
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
C |
A |
17: 24,600,938 (GRCm39) |
Q451K |
probably benign |
Het |
| Acly |
A |
T |
11: 100,405,909 (GRCm39) |
D294E |
possibly damaging |
Het |
| Arid3a |
C |
T |
10: 79,782,316 (GRCm39) |
|
probably benign |
Het |
| Ascc3 |
T |
C |
10: 50,643,539 (GRCm39) |
V1830A |
probably benign |
Het |
| Atp6v1b1 |
T |
C |
6: 83,735,333 (GRCm39) |
V467A |
probably benign |
Het |
| Ccdc171 |
A |
T |
4: 83,736,327 (GRCm39) |
I1233L |
probably damaging |
Het |
| Ccdc74a |
C |
A |
16: 17,466,730 (GRCm39) |
Q146K |
possibly damaging |
Het |
| Cdh26 |
A |
G |
2: 178,109,967 (GRCm39) |
D420G |
probably damaging |
Het |
| Ceacam20 |
T |
C |
7: 19,705,444 (GRCm39) |
V145A |
possibly damaging |
Het |
| Cmya5 |
C |
A |
13: 93,227,376 (GRCm39) |
A2571S |
probably damaging |
Het |
| Cog2 |
T |
C |
8: 125,267,763 (GRCm39) |
S360P |
probably damaging |
Het |
| Col26a1 |
G |
T |
5: 136,794,202 (GRCm39) |
T132N |
probably damaging |
Het |
| Col6a2 |
T |
A |
10: 76,450,259 (GRCm39) |
H224L |
probably benign |
Het |
| Cpm |
C |
T |
10: 117,519,319 (GRCm39) |
S409L |
probably benign |
Het |
| Dock4 |
G |
T |
12: 40,742,906 (GRCm39) |
|
probably benign |
Het |
| Dpy19l2 |
T |
A |
9: 24,557,603 (GRCm39) |
N391Y |
possibly damaging |
Het |
| Exosc9 |
G |
A |
3: 36,608,284 (GRCm39) |
G126D |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 16,286,541 (GRCm39) |
D994G |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 39,011,008 (GRCm39) |
Q2036R |
possibly damaging |
Het |
| Fryl |
T |
C |
5: 73,258,798 (GRCm39) |
Q662R |
probably null |
Het |
| Gm13271 |
A |
G |
4: 88,673,636 (GRCm39) |
R178G |
probably benign |
Het |
| Gpr165 |
T |
A |
X: 95,760,560 (GRCm39) |
L279Q |
probably damaging |
Het |
| Htr1b |
A |
G |
9: 81,513,998 (GRCm39) |
L203P |
probably damaging |
Het |
| Kcnb2 |
T |
C |
1: 15,780,112 (GRCm39) |
L328P |
probably damaging |
Het |
| Klhl26 |
C |
T |
8: 70,905,214 (GRCm39) |
R198H |
probably damaging |
Het |
| Nhsl2 |
A |
G |
X: 101,123,115 (GRCm39) |
R973G |
possibly damaging |
Het |
| Nmi |
A |
T |
2: 51,842,546 (GRCm39) |
F182Y |
probably damaging |
Het |
| Nop2 |
T |
A |
6: 125,114,475 (GRCm39) |
|
probably null |
Het |
| Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
| Ooep |
G |
T |
9: 78,285,289 (GRCm39) |
A109E |
possibly damaging |
Het |
| Or1j21 |
A |
G |
2: 36,684,093 (GRCm39) |
T282A |
probably benign |
Het |
| Pan3 |
T |
C |
5: 147,387,591 (GRCm39) |
|
probably benign |
Het |
| Pcdhb6 |
A |
G |
18: 37,467,459 (GRCm39) |
N127D |
probably damaging |
Het |
| Rabgap1 |
G |
A |
2: 37,430,544 (GRCm39) |
R695H |
probably damaging |
Het |
| Rxrg |
G |
A |
1: 167,426,327 (GRCm39) |
G3R |
possibly damaging |
Het |
| Slc17a3 |
T |
C |
13: 24,030,423 (GRCm39) |
M178T |
probably benign |
Het |
| Slc39a8 |
A |
G |
3: 135,589,971 (GRCm39) |
E287G |
probably benign |
Het |
| Slc44a5 |
G |
T |
3: 153,949,177 (GRCm39) |
D217Y |
possibly damaging |
Het |
| Slc4a10 |
G |
T |
2: 62,080,810 (GRCm39) |
V346L |
probably benign |
Het |
| Slc9a4 |
T |
C |
1: 40,651,362 (GRCm39) |
Y547H |
probably damaging |
Het |
| St6galnac3 |
A |
C |
3: 152,911,164 (GRCm39) |
Y266D |
probably damaging |
Het |
| Stard6 |
A |
T |
18: 70,609,182 (GRCm39) |
Y3F |
possibly damaging |
Het |
| Stk25 |
C |
A |
1: 93,556,858 (GRCm39) |
L53F |
probably damaging |
Het |
| Tep1 |
A |
T |
14: 51,081,474 (GRCm39) |
|
probably benign |
Het |
| Tmem151a |
T |
A |
19: 5,135,400 (GRCm39) |
M1L |
probably benign |
Het |
| Trim10 |
T |
C |
17: 37,187,740 (GRCm39) |
S319P |
probably damaging |
Het |
| Trmt44 |
G |
T |
5: 35,721,766 (GRCm39) |
P466T |
probably benign |
Het |
| Unc79 |
T |
C |
12: 103,008,401 (GRCm39) |
I256T |
probably damaging |
Het |
| Vmn2r125 |
G |
T |
4: 156,702,314 (GRCm39) |
L33F |
possibly 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 |
|
IGL02364:Eya3
|
APN |
4 |
132,437,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03008:Eya3
|
APN |
4 |
132,434,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2016-08-02 |
Incidental Mutation