Incidental Mutation 'R5479:Eya3'
| ID |
434204 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eya3
|
| Ensembl Gene |
ENSMUSG00000028886 |
| Gene Name |
EYA transcriptional coactivator and phosphatase 3 |
| Synonyms |
|
| MMRRC Submission |
043040-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.766)
|
| Stock # |
R5479 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
132366303-132452076 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 132400244 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 88
(T88A)
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000020197
Gene: ENSMUSG00000028886
| 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: T72A
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000078157
Gene: ENSMUSG00000028886
AA Change: T72A
| 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: T88A
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000080425
Gene: ENSMUSG00000028886
AA Change: T88A
| 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 |
possibly damaging
Transcript: ENSMUST00000135299
AA Change: T88A
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000123045
Gene: ENSMUSG00000028886
AA Change: T88A
| 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 |
noncoding transcript
Transcript: ENSMUST00000145668
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157029
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142998
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180250
|
| SMART Domains |
Protein: ENSMUSP00000136812
Gene: ENSMUSG00000028886
| 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 |
|
| Coding Region Coverage |
- 1x: 98.4%
- 3x: 97.4%
- 10x: 95.4%
- 20x: 91.3%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl5 |
G |
T |
19: 55,268,894 (GRCm39) |
C185F |
probably damaging |
Het |
| Adad2 |
C |
A |
8: 120,341,654 (GRCm39) |
T185N |
possibly damaging |
Het |
| Apbb1 |
A |
T |
7: 105,214,232 (GRCm39) |
V315E |
probably damaging |
Het |
| Arfrp1 |
T |
C |
2: 181,006,191 (GRCm39) |
T32A |
probably damaging |
Het |
| B020004C17Rik |
T |
C |
14: 57,253,999 (GRCm39) |
S41P |
probably benign |
Het |
| Celsr3 |
T |
C |
9: 108,721,743 (GRCm39) |
|
probably null |
Het |
| Chd8 |
C |
T |
14: 52,452,652 (GRCm39) |
G1289D |
probably benign |
Het |
| Ctrl |
A |
G |
8: 106,659,672 (GRCm39) |
F59S |
probably damaging |
Het |
| Cyp4v3 |
T |
A |
8: 45,763,243 (GRCm39) |
D356V |
probably benign |
Het |
| Dgka |
T |
A |
10: 128,565,541 (GRCm39) |
|
probably null |
Het |
| Dnah7b |
T |
C |
1: 46,262,265 (GRCm39) |
Y2043H |
probably damaging |
Het |
| Fat1 |
A |
G |
8: 45,489,912 (GRCm39) |
D3608G |
possibly damaging |
Het |
| Fmo1 |
T |
C |
1: 162,677,793 (GRCm39) |
T108A |
probably damaging |
Het |
| Frs3 |
A |
G |
17: 48,012,635 (GRCm39) |
E114G |
probably damaging |
Het |
| Ftcd |
A |
T |
10: 76,413,850 (GRCm39) |
M85L |
probably benign |
Het |
| Ggnbp2 |
T |
C |
11: 84,745,169 (GRCm39) |
S189G |
probably benign |
Het |
| Gm3629 |
C |
T |
14: 17,875,765 (GRCm39) |
R35H |
unknown |
Het |
| Gnai2 |
T |
G |
9: 107,512,365 (GRCm39) |
M18L |
probably benign |
Het |
| Gpx5 |
T |
C |
13: 21,476,805 (GRCm39) |
Y9C |
probably benign |
Het |
| Grik1 |
C |
A |
16: 87,732,914 (GRCm39) |
A668S |
probably damaging |
Het |
| Hectd4 |
A |
T |
5: 121,445,011 (GRCm39) |
M83L |
probably benign |
Het |
| Klra9 |
T |
C |
6: 130,156,075 (GRCm39) |
R227G |
probably benign |
Het |
| Maz |
A |
T |
7: 126,624,860 (GRCm39) |
V197D |
possibly damaging |
Het |
| Mbd5 |
T |
C |
2: 49,162,917 (GRCm39) |
V241A |
probably damaging |
Het |
| Mdga2 |
C |
T |
12: 66,701,950 (GRCm39) |
C417Y |
probably damaging |
Het |
| Mios |
C |
T |
6: 8,215,314 (GRCm39) |
T170I |
probably benign |
Het |
| Myh13 |
G |
A |
11: 67,239,648 (GRCm39) |
A733T |
probably damaging |
Het |
| Ncam2 |
C |
T |
16: 81,231,766 (GRCm39) |
R77* |
probably null |
Het |
| Nfs1 |
G |
A |
2: 155,970,422 (GRCm39) |
T297I |
probably damaging |
Het |
| Nrbf2 |
A |
G |
10: 67,120,870 (GRCm39) |
|
probably null |
Het |
| Nrg1 |
T |
C |
8: 32,308,405 (GRCm39) |
Y537C |
probably damaging |
Het |
| Onecut3 |
T |
A |
10: 80,349,856 (GRCm39) |
L450Q |
probably damaging |
Het |
| Or4p8 |
T |
C |
2: 88,727,035 (GRCm39) |
D302G |
probably benign |
Het |
| Pard3 |
G |
A |
8: 128,096,836 (GRCm39) |
R333Q |
probably damaging |
Het |
| Parp4 |
T |
C |
14: 56,861,552 (GRCm39) |
F962L |
probably benign |
Het |
| Pilra |
A |
G |
5: 137,834,318 (GRCm39) |
S22P |
possibly damaging |
Het |
| Piwil4 |
T |
C |
9: 14,616,337 (GRCm39) |
Y673C |
probably damaging |
Het |
| Plxna2 |
G |
A |
1: 194,476,181 (GRCm39) |
D1134N |
probably benign |
Het |
| Pnpla7 |
T |
C |
2: 24,909,453 (GRCm39) |
V681A |
possibly damaging |
Het |
| Ppfibp1 |
T |
A |
6: 146,931,648 (GRCm39) |
|
probably null |
Het |
| Ptprz1 |
C |
T |
6: 23,001,665 (GRCm39) |
L1252F |
probably benign |
Het |
| Sptb |
T |
C |
12: 76,646,625 (GRCm39) |
E1999G |
probably benign |
Het |
| Stat3 |
T |
C |
11: 100,780,714 (GRCm39) |
|
probably benign |
Het |
| Usp25 |
T |
C |
16: 76,904,801 (GRCm39) |
V789A |
possibly damaging |
Het |
| Zfp148 |
C |
A |
16: 33,317,589 (GRCm39) |
Q712K |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTAATAATGGAACCTGAAAAGGGCC -3'
(R):5'- AGCCACGCTTGCTTTCTGAG -3'
Sequencing Primer
(F):5'- CCTGAAAAGGGCCAAACTTG -3'
(R):5'- CTTTCTGAGCAGGGACAGAG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation