Incidental Mutation 'IGL03176:Eya3'
| ID |
411997 |
| 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 # |
IGL03176
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
132366303-132452076 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 132439233 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 437
(E437G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078157
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020197]
[ENSMUST00000079157]
[ENSMUST00000081726]
[ENSMUST00000180250]
|
| AlphaFold |
P97480 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020197
AA Change: E343G
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000020197
Gene: ENSMUSG00000028886
AA Change: E343G
| 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 |
possibly damaging
Transcript: ENSMUST00000079157
AA Change: E437G
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000078157
Gene: ENSMUSG00000028886
AA Change: E437G
| 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: E453G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000080425
Gene: ENSMUSG00000028886
AA Change: E453G
| 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 benign
Transcript: ENSMUST00000180250
AA Change: E343G
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000136812
Gene: ENSMUSG00000028886
AA Change: E343G
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam23 |
C |
A |
1: 63,602,575 (GRCm39) |
P579Q |
probably damaging |
Het |
| Adam6a |
A |
G |
12: 113,509,822 (GRCm39) |
T732A |
probably benign |
Het |
| Ahnak |
T |
A |
19: 8,985,530 (GRCm39) |
N2271K |
possibly damaging |
Het |
| Ahnak |
T |
C |
19: 8,979,813 (GRCm39) |
S366P |
probably damaging |
Het |
| Akr1a1 |
A |
G |
4: 116,496,272 (GRCm39) |
L213S |
probably damaging |
Het |
| Ammecr1l |
T |
A |
18: 31,905,102 (GRCm39) |
D114E |
possibly damaging |
Het |
| Casq2 |
G |
T |
3: 102,033,970 (GRCm39) |
V167L |
possibly damaging |
Het |
| Cd164l2 |
T |
C |
4: 132,951,565 (GRCm39) |
I172T |
possibly damaging |
Het |
| Clec4g |
C |
T |
8: 3,768,441 (GRCm39) |
V97M |
possibly damaging |
Het |
| Dnah8 |
T |
A |
17: 30,913,011 (GRCm39) |
N1068K |
probably benign |
Het |
| Epyc |
A |
G |
10: 97,485,562 (GRCm39) |
M1V |
probably null |
Het |
| Fbln1 |
C |
T |
15: 85,128,507 (GRCm39) |
T568I |
possibly damaging |
Het |
| Fcrl1 |
A |
T |
3: 87,298,564 (GRCm39) |
N353I |
probably damaging |
Het |
| Gm10272 |
A |
T |
10: 77,542,467 (GRCm39) |
H3L |
probably null |
Het |
| Gm15130 |
A |
G |
2: 110,978,846 (GRCm39) |
S32P |
unknown |
Het |
| Gm20379 |
C |
A |
13: 92,442,529 (GRCm39) |
|
probably benign |
Het |
| Igf2r |
A |
T |
17: 12,935,559 (GRCm39) |
Y644N |
probably damaging |
Het |
| Krtap4-9 |
T |
C |
11: 99,676,106 (GRCm39) |
|
probably benign |
Het |
| Man2c1 |
A |
G |
9: 57,048,030 (GRCm39) |
N739D |
probably benign |
Het |
| Mcm5 |
C |
T |
8: 75,836,481 (GRCm39) |
T49M |
possibly damaging |
Het |
| Otof |
C |
T |
5: 30,562,520 (GRCm39) |
|
probably null |
Het |
| Ptgr2 |
C |
T |
12: 84,354,668 (GRCm39) |
T283I |
probably damaging |
Het |
| Rhox4c |
G |
T |
X: 36,662,181 (GRCm39) |
G15V |
probably benign |
Het |
| Rnd1 |
A |
T |
15: 98,568,569 (GRCm39) |
L203H |
probably damaging |
Het |
| Rnf186 |
A |
G |
4: 138,695,231 (GRCm39) |
N257S |
probably benign |
Het |
| Rsf1 |
T |
C |
7: 97,328,357 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
G |
A |
13: 11,756,909 (GRCm39) |
Q1582* |
probably null |
Het |
| Sntg2 |
G |
A |
12: 30,317,022 (GRCm39) |
|
probably benign |
Het |
| Spata31d1c |
A |
G |
13: 65,184,825 (GRCm39) |
D789G |
probably benign |
Het |
| Strc |
A |
C |
2: 121,202,661 (GRCm39) |
L1168R |
probably damaging |
Het |
| Tmtc3 |
A |
T |
10: 100,301,993 (GRCm39) |
S319T |
possibly damaging |
Het |
| Vmn1r88 |
A |
T |
7: 12,911,779 (GRCm39) |
D45V |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 144,801,533 (GRCm39) |
F3531I |
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 |
|
|
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 |
|
IGL03144:Eya3
|
APN |
4 |
132,420,453 (GRCm39) |
missense |
probably benign |
0.07 |
|
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