Incidental Mutation 'IGL01145:Eya3'
ID |
50981 |
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 # |
IGL01145
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
132366303-132452076 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 132437306 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 389
(I389V)
|
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: I295V
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000020197 Gene: ENSMUSG00000028886 AA Change: I295V
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: I389V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000078157 Gene: ENSMUSG00000028886 AA Change: I389V
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 |
possibly damaging
Transcript: ENSMUST00000081726
AA Change: I405V
PolyPhen 2
Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000080425 Gene: ENSMUSG00000028886 AA Change: I405V
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 |
probably damaging
Transcript: ENSMUST00000180250
AA Change: I295V
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000136812 Gene: ENSMUSG00000028886 AA Change: I295V
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: ENSMUST00000153809
|
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 |
Acan |
A |
C |
7: 78,749,030 (GRCm39) |
D1267A |
probably damaging |
Het |
Ankrd44 |
A |
G |
1: 54,801,418 (GRCm39) |
|
probably null |
Het |
Arap3 |
T |
C |
18: 38,122,232 (GRCm39) |
M619V |
probably benign |
Het |
C8b |
A |
T |
4: 104,637,777 (GRCm39) |
Y83F |
probably benign |
Het |
Capn15 |
A |
G |
17: 26,182,024 (GRCm39) |
V595A |
probably damaging |
Het |
Cbx1 |
A |
T |
11: 96,692,392 (GRCm39) |
D93V |
probably benign |
Het |
Cyp2c66 |
G |
T |
19: 39,159,405 (GRCm39) |
E285D |
probably benign |
Het |
Dkk4 |
T |
A |
8: 23,115,402 (GRCm39) |
V84D |
probably damaging |
Het |
Dnah17 |
T |
A |
11: 117,937,999 (GRCm39) |
I3343F |
possibly damaging |
Het |
Dus3l |
T |
C |
17: 57,074,627 (GRCm39) |
|
probably benign |
Het |
Ecpas |
A |
C |
4: 58,811,501 (GRCm39) |
D1467E |
probably null |
Het |
Eif6 |
A |
G |
2: 155,668,355 (GRCm39) |
|
probably benign |
Het |
Gm5916 |
A |
T |
9: 36,031,998 (GRCm39) |
D95E |
unknown |
Het |
Gucy2d |
T |
A |
7: 98,099,170 (GRCm39) |
S329T |
probably benign |
Het |
Hook3 |
C |
T |
8: 26,549,372 (GRCm39) |
M157I |
probably benign |
Het |
Iapp |
C |
A |
6: 142,249,090 (GRCm39) |
R48S |
probably damaging |
Het |
Ints11 |
A |
G |
4: 155,969,583 (GRCm39) |
Y153C |
probably damaging |
Het |
Layn |
G |
A |
9: 50,985,346 (GRCm39) |
T62I |
probably benign |
Het |
Llgl2 |
A |
G |
11: 115,744,631 (GRCm39) |
H876R |
probably benign |
Het |
Lrp4 |
T |
C |
2: 91,317,396 (GRCm39) |
I840T |
probably damaging |
Het |
Myo9a |
T |
A |
9: 59,762,658 (GRCm39) |
F796L |
probably benign |
Het |
Naip1 |
A |
G |
13: 100,545,629 (GRCm39) |
S1300P |
probably benign |
Het |
Nfat5 |
T |
A |
8: 108,093,847 (GRCm39) |
I602N |
probably damaging |
Het |
Omt2a |
T |
C |
9: 78,220,238 (GRCm39) |
M64V |
probably benign |
Het |
Pcnx1 |
T |
C |
12: 82,038,809 (GRCm39) |
S2025P |
probably damaging |
Het |
Pemt |
A |
G |
11: 59,874,293 (GRCm39) |
L62P |
probably damaging |
Het |
Polrmt |
A |
G |
10: 79,576,971 (GRCm39) |
V399A |
probably benign |
Het |
Rasgrp4 |
T |
C |
7: 28,850,898 (GRCm39) |
S77P |
possibly damaging |
Het |
Rrm2b |
G |
A |
15: 37,944,804 (GRCm39) |
P111L |
probably damaging |
Het |
Slc10a4-ps |
A |
T |
5: 72,743,547 (GRCm39) |
|
probably null |
Het |
Thap12 |
A |
G |
7: 98,362,110 (GRCm39) |
*121W |
probably null |
Het |
Tnik |
A |
G |
3: 28,658,316 (GRCm39) |
|
probably benign |
Het |
Trio |
G |
A |
15: 27,818,253 (GRCm39) |
|
probably benign |
Het |
Zfhx4 |
A |
G |
3: 5,310,407 (GRCm39) |
E930G |
probably damaging |
Het |
Zfp335 |
G |
T |
2: 164,749,422 (GRCm39) |
T299K |
probably benign |
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 |
|
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 |
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 |
2013-06-21 |