Incidental Mutation 'R0621:Eya3'
ID |
58662 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eya3
|
Ensembl Gene |
ENSMUSG00000028886 |
Gene Name |
EYA transcriptional coactivator and phosphatase 3 |
Synonyms |
|
MMRRC Submission |
038810-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.766)
|
Stock # |
R0621 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
132366303-132452076 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 132422113 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 275
(D275E)
|
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: D119E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000020197 Gene: ENSMUSG00000028886 AA Change: D119E
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: D213E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000078157 Gene: ENSMUSG00000028886 AA Change: D213E
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: D229E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000080425 Gene: ENSMUSG00000028886 AA Change: D229E
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: D275E
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000123045 Gene: ENSMUSG00000028886 AA Change: D275E
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: D119E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000136812 Gene: ENSMUSG00000028886 AA Change: D119E
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: 99.4%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.0%
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abr |
T |
C |
11: 76,399,898 (GRCm39) |
D33G |
probably damaging |
Het |
Adgre1 |
T |
A |
17: 57,748,359 (GRCm39) |
S520T |
probably damaging |
Het |
Afg2a |
C |
T |
3: 37,486,178 (GRCm39) |
T300I |
probably benign |
Het |
Ankrd40 |
A |
G |
11: 94,230,433 (GRCm39) |
|
probably null |
Het |
Aph1b |
A |
T |
9: 66,686,616 (GRCm39) |
I177K |
possibly damaging |
Het |
Armc3 |
A |
T |
2: 19,300,204 (GRCm39) |
N579I |
probably damaging |
Het |
Atxn7l1 |
T |
C |
12: 33,376,099 (GRCm39) |
V131A |
probably benign |
Het |
C130073F10Rik |
A |
G |
4: 101,747,992 (GRCm39) |
Y61H |
probably damaging |
Het |
C1s2 |
A |
T |
6: 124,608,071 (GRCm39) |
L214Q |
probably damaging |
Het |
Caprin2 |
A |
T |
6: 148,760,176 (GRCm39) |
S425T |
possibly damaging |
Het |
Cdc42ep4 |
G |
A |
11: 113,619,522 (GRCm39) |
R290C |
probably damaging |
Het |
Cenpf |
T |
C |
1: 189,404,825 (GRCm39) |
T352A |
probably benign |
Het |
Col6a4 |
A |
T |
9: 105,943,990 (GRCm39) |
F1161L |
probably damaging |
Het |
Dctn2 |
T |
C |
10: 127,113,809 (GRCm39) |
|
probably null |
Het |
Ddx24 |
T |
C |
12: 103,391,817 (GRCm39) |
|
probably benign |
Het |
Dsg1c |
C |
A |
18: 20,412,752 (GRCm39) |
A591D |
possibly damaging |
Het |
Efnb3 |
T |
C |
11: 69,446,798 (GRCm39) |
D304G |
probably damaging |
Het |
Erbb3 |
T |
C |
10: 128,422,094 (GRCm39) |
Y50C |
probably benign |
Het |
Fam81a |
G |
T |
9: 70,000,929 (GRCm39) |
Q272K |
probably benign |
Het |
Foxf1 |
T |
C |
8: 121,811,919 (GRCm39) |
V261A |
probably damaging |
Het |
Gm9637 |
G |
A |
14: 19,402,011 (GRCm38) |
|
noncoding transcript |
Het |
Gnb4 |
C |
T |
3: 32,645,356 (GRCm39) |
V112I |
probably benign |
Het |
Gtf2h2 |
A |
T |
13: 100,625,433 (GRCm39) |
L61Q |
probably damaging |
Het |
Hey2 |
T |
A |
10: 30,710,382 (GRCm39) |
I124F |
probably benign |
Het |
Hoxb3 |
A |
T |
11: 96,236,789 (GRCm39) |
Y289F |
probably damaging |
Het |
Kctd3 |
C |
T |
1: 188,713,538 (GRCm39) |
R399Q |
probably damaging |
Het |
Kif26b |
C |
G |
1: 178,743,218 (GRCm39) |
P1105A |
probably benign |
Het |
Klhl30 |
C |
T |
1: 91,285,585 (GRCm39) |
T369M |
probably damaging |
Het |
Lipo2 |
C |
T |
19: 33,708,339 (GRCm39) |
G225D |
probably damaging |
Het |
Macf1 |
T |
C |
4: 123,274,327 (GRCm39) |
K6350E |
probably damaging |
Het |
Myh13 |
A |
C |
11: 67,232,058 (GRCm39) |
N446T |
probably damaging |
Het |
Nos1ap |
T |
C |
1: 170,146,150 (GRCm39) |
D468G |
probably damaging |
Het |
Or10j2 |
C |
T |
1: 173,098,242 (GRCm39) |
P167S |
possibly damaging |
Het |
Or11h7 |
G |
A |
14: 50,891,419 (GRCm39) |
G242R |
possibly damaging |
Het |
Or4a77 |
C |
A |
2: 89,487,459 (GRCm39) |
E109* |
probably null |
Het |
Pde3a |
T |
C |
6: 141,195,725 (GRCm39) |
L137P |
probably damaging |
Het |
Ppm1f |
G |
A |
16: 16,733,172 (GRCm39) |
R233Q |
probably benign |
Het |
Rtf2 |
C |
A |
2: 172,308,216 (GRCm39) |
A205E |
possibly damaging |
Het |
Sh2d5 |
T |
C |
4: 137,985,629 (GRCm39) |
F359S |
probably benign |
Het |
Siglec1 |
G |
A |
2: 130,916,188 (GRCm39) |
T1254M |
probably benign |
Het |
Slc39a11 |
G |
A |
11: 113,354,905 (GRCm39) |
P108L |
probably benign |
Het |
Slc6a5 |
G |
A |
7: 49,567,113 (GRCm39) |
|
probably null |
Het |
Snph |
C |
T |
2: 151,435,642 (GRCm39) |
V360M |
probably damaging |
Het |
Snx29 |
A |
G |
16: 11,223,651 (GRCm39) |
|
probably null |
Het |
Sos1 |
A |
G |
17: 80,759,408 (GRCm39) |
|
probably null |
Het |
St8sia6 |
T |
A |
2: 13,662,093 (GRCm39) |
N246I |
probably damaging |
Het |
Thy1 |
T |
A |
9: 43,958,030 (GRCm39) |
F53I |
probably damaging |
Het |
Tle3 |
T |
A |
9: 61,317,387 (GRCm39) |
Y421* |
probably null |
Het |
Ttc21b |
C |
T |
2: 66,056,355 (GRCm39) |
R677Q |
probably benign |
Het |
Vmn2r107 |
A |
T |
17: 20,595,252 (GRCm39) |
I602F |
probably benign |
Het |
Wdr17 |
C |
A |
8: 55,096,226 (GRCm39) |
G1016C |
probably benign |
Het |
Wdr62 |
T |
C |
7: 29,953,486 (GRCm39) |
E182G |
possibly damaging |
Het |
Zfp597 |
A |
G |
16: 3,684,228 (GRCm39) |
I176T |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTGTAGGCAGAAGATGACTCAGTAGG -3'
(R):5'- TCCACAAAGGTGAACGGGTTGG -3'
Sequencing Primer
(F):5'- AAGATGACTCAGTAGGTGGATTCTG -3'
(R):5'- GGATATATAAGCTAAGCTGTGGGC -3'
|
Posted On |
2013-07-11 |