Incidental Mutation 'R6460:Eya3'
| ID |
517554 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eya3
|
| Ensembl Gene |
ENSMUSG00000028886 |
| Gene Name |
EYA transcriptional coactivator and phosphatase 3 |
| Synonyms |
|
| MMRRC Submission |
044595-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.766)
|
| Stock # |
R6460 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
132366303-132452076 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 132408174 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 157
(S157G)
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000078157
Gene: ENSMUSG00000028886
| 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
|
| SMART Domains |
Protein: ENSMUSP00000080425
Gene: ENSMUSG00000028886
| 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 damaging
Transcript: ENSMUST00000135299
AA Change: S157G
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000123045
Gene: ENSMUSG00000028886
AA Change: S157G
| 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
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142998
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145668
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157029
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
A |
T |
10: 79,844,862 (GRCm39) |
H1528L |
probably benign |
Het |
| Ablim1 |
A |
G |
19: 57,068,271 (GRCm39) |
S263P |
possibly damaging |
Het |
| Ahnak2 |
T |
C |
12: 112,750,610 (GRCm39) |
E104G |
probably null |
Het |
| Apof |
T |
A |
10: 128,105,086 (GRCm39) |
M80K |
probably damaging |
Het |
| Arfgef1 |
C |
T |
1: 10,283,285 (GRCm39) |
R208H |
probably damaging |
Het |
| Arhgef33 |
A |
G |
17: 80,657,018 (GRCm39) |
|
probably null |
Het |
| Atxn2l |
CCAGCAGCAGCAGCAGCAGC |
CCAGCAGCAGCAGCAGC |
7: 126,093,420 (GRCm39) |
|
probably benign |
Het |
| Cabcoco1 |
T |
C |
10: 68,352,211 (GRCm39) |
K34E |
probably damaging |
Het |
| Col4a4 |
C |
A |
1: 82,444,253 (GRCm39) |
G1338V |
unknown |
Het |
| Coq9 |
T |
A |
8: 95,579,814 (GRCm39) |
D256E |
probably damaging |
Het |
| Dnajc18 |
A |
T |
18: 35,833,963 (GRCm39) |
C41S |
probably benign |
Het |
| Dnajc6 |
A |
G |
4: 101,472,795 (GRCm39) |
I307M |
probably damaging |
Het |
| Emg1 |
A |
G |
6: 124,688,870 (GRCm39) |
V46A |
probably damaging |
Het |
| Eya4 |
T |
C |
10: 23,027,910 (GRCm39) |
N274S |
probably benign |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fat3 |
A |
G |
9: 15,878,296 (GRCm39) |
V3395A |
probably damaging |
Het |
| Fchsd1 |
A |
T |
18: 38,092,897 (GRCm39) |
|
probably null |
Het |
| Gm4846 |
A |
G |
1: 166,325,082 (GRCm39) |
V3A |
probably benign |
Het |
| Hecw2 |
T |
A |
1: 53,907,992 (GRCm39) |
|
probably null |
Het |
| Herc3 |
T |
A |
6: 58,867,108 (GRCm39) |
I10N |
probably damaging |
Het |
| Hhatl |
C |
T |
9: 121,618,588 (GRCm39) |
R138H |
probably benign |
Het |
| Hspa9 |
A |
T |
18: 35,085,765 (GRCm39) |
H35Q |
probably benign |
Het |
| Irgq |
T |
A |
7: 24,233,115 (GRCm39) |
S319T |
probably benign |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Ksr2 |
T |
A |
5: 117,894,449 (GRCm39) |
|
probably null |
Het |
| Lrriq1 |
T |
C |
10: 103,036,559 (GRCm39) |
I865V |
probably damaging |
Het |
| Map2k1 |
A |
G |
9: 64,094,577 (GRCm39) |
L355P |
probably damaging |
Het |
| Muc16 |
A |
G |
9: 18,551,812 (GRCm39) |
I4827T |
probably benign |
Het |
| Myh1 |
T |
C |
11: 67,112,202 (GRCm39) |
V1752A |
probably benign |
Het |
| Nfatc2ip |
A |
G |
7: 125,986,909 (GRCm39) |
V282A |
probably damaging |
Het |
| Nrg1 |
T |
A |
8: 32,308,561 (GRCm39) |
E485V |
probably damaging |
Het |
| Ofcc1 |
T |
C |
13: 40,441,455 (GRCm39) |
D2G |
probably damaging |
Het |
| Or10d3 |
CAGAG |
CAG |
9: 39,462,088 (GRCm39) |
|
probably null |
Het |
| Pclo |
T |
C |
5: 14,729,146 (GRCm39) |
|
probably benign |
Het |
| Pom121 |
T |
C |
5: 135,420,537 (GRCm39) |
K295E |
unknown |
Het |
| Rb1 |
A |
C |
14: 73,515,894 (GRCm39) |
I294R |
probably benign |
Het |
| Schip1 |
C |
A |
3: 68,402,227 (GRCm39) |
S101R |
probably benign |
Het |
| Sec24c |
T |
A |
14: 20,740,868 (GRCm39) |
Y629N |
probably damaging |
Het |
| Shkbp1 |
T |
A |
7: 27,049,963 (GRCm39) |
H305L |
probably benign |
Het |
| Spag9 |
T |
C |
11: 93,959,801 (GRCm39) |
I187T |
probably damaging |
Het |
| Srp72 |
C |
A |
5: 77,135,838 (GRCm39) |
T256K |
probably damaging |
Het |
| Stk32c |
T |
A |
7: 138,685,190 (GRCm39) |
N320I |
probably damaging |
Het |
| Stxbp4 |
A |
T |
11: 90,497,811 (GRCm39) |
S163T |
probably benign |
Het |
| Sycp1 |
T |
G |
3: 102,832,569 (GRCm39) |
Y199S |
probably damaging |
Het |
| Tpk1 |
T |
C |
6: 43,445,961 (GRCm39) |
D159G |
probably benign |
Het |
| Trav21-dv12 |
C |
T |
14: 54,114,191 (GRCm39) |
H104Y |
probably benign |
Het |
| Trip4 |
A |
T |
9: 65,788,302 (GRCm39) |
Y48N |
probably damaging |
Het |
| Trmt10b |
A |
G |
4: 45,314,322 (GRCm39) |
T255A |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,747,232 (GRCm39) |
Q4606* |
probably null |
Het |
| Vcan |
T |
A |
13: 89,838,806 (GRCm39) |
K2246M |
possibly damaging |
Het |
| Zfp438 |
C |
A |
18: 5,213,603 (GRCm39) |
G452C |
probably damaging |
Het |
| Zfp54 |
T |
A |
17: 21,654,004 (GRCm39) |
I166N |
probably benign |
Het |
| Zfp735 |
T |
C |
11: 73,602,478 (GRCm39) |
V474A |
probably benign |
Het |
| Zfp831 |
G |
T |
2: 174,488,360 (GRCm39) |
G1012W |
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 |
|
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 |
|
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'- TTTCGACTTGAAACCTACCAGTTG -3'
(R):5'- CAACCACACTGCATGGATTTG -3'
Sequencing Primer
(F):5'- CCAGTTGGTATTTAAAGCATAGCTG -3'
(R):5'- GCTCCTGTATCATCCAGTTG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation