Incidental Mutation 'R3899:Eya1'
| ID |
308850 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eya1
|
| Ensembl Gene |
ENSMUSG00000025932 |
| Gene Name |
EYA transcriptional coactivator and phosphatase 1 |
| Synonyms |
bor |
| MMRRC Submission |
040809-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.847)
|
| Stock # |
R3899 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
14239178-14380459 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 14340971 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 139
(T139A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140171
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027066]
[ENSMUST00000080664]
[ENSMUST00000168081]
[ENSMUST00000185453]
[ENSMUST00000187790]
[ENSMUST00000188857]
[ENSMUST00000190337]
|
| AlphaFold |
P97767 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027066
AA Change: T171A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000027066
Gene: ENSMUSG00000025932
AA Change: T171A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
56 |
75 |
N/A |
INTRINSIC |
|
low complexity region
|
240 |
252 |
N/A |
INTRINSIC |
|
low complexity region
|
295 |
319 |
N/A |
INTRINSIC |
|
PDB:3HB1|D
|
320 |
591 |
1e-172 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080664
AA Change: T138A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000079493
Gene: ENSMUSG00000025932
AA Change: T138A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
41 |
N/A |
INTRINSIC |
|
low complexity region
|
201 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
256 |
280 |
N/A |
INTRINSIC |
|
PDB:3HB1|D
|
281 |
552 |
1e-173 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168081
AA Change: T167A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000126383
Gene: ENSMUSG00000025932
AA Change: T167A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
207 |
219 |
N/A |
INTRINSIC |
|
low complexity region
|
262 |
286 |
N/A |
INTRINSIC |
|
PDB:3HB1|D
|
287 |
558 |
1e-172 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185453
AA Change: T172A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000141072
Gene: ENSMUSG00000025932
AA Change: T172A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
56 |
75 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187790
|
| SMART Domains |
Protein: ENSMUSP00000139542
Gene: ENSMUSG00000025932
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
56 |
75 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188857
AA Change: T139A
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000140171
Gene: ENSMUSG00000025932
AA Change: T139A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
42 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190337
AA Change: T171A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000141112
Gene: ENSMUSG00000025932
AA Change: T171A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
56 |
75 |
N/A |
INTRINSIC |
|
low complexity region
|
240 |
252 |
N/A |
INTRINSIC |
|
low complexity region
|
295 |
319 |
N/A |
INTRINSIC |
|
PDB:3HB1|D
|
320 |
591 |
1e-172 |
PDB |
|
| Meta Mutation Damage Score |
0.0695 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
98% (62/63) |
| 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 play a role in the developing kidney, branchial arches, eye, and ear. Mutations of this gene have been associated with branchiootorenal dysplasia syndrome, branchiootic syndrome, and sporadic cases of congenital cataracts and ocular anterior segment anomalies. A similar protein in mice can act as a transcriptional activator. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2013]
PHENOTYPE: Mutations in this locus affect inner ear morphology and hearing, and result in dysmorphic or absent kidneys. Hypomorphs are deaf and circle. Null homozygotes additionally show agenesis of thymus and parathyroid and thyroid hypoplasia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss2 |
A |
G |
2: 155,399,157 (GRCm39) |
|
probably benign |
Het |
| Ahctf1 |
A |
G |
1: 179,605,345 (GRCm39) |
S730P |
possibly damaging |
Het |
| Ankrd26 |
T |
A |
6: 118,526,389 (GRCm39) |
R327S |
probably benign |
Het |
| Anpep |
A |
G |
7: 79,488,973 (GRCm39) |
S372P |
probably benign |
Het |
| Apob |
A |
T |
12: 8,065,849 (GRCm39) |
I4273F |
possibly damaging |
Het |
| Ascl1 |
G |
T |
10: 87,328,435 (GRCm39) |
H172Q |
probably benign |
Het |
| Azi2 |
A |
G |
9: 117,876,571 (GRCm39) |
Y29C |
probably damaging |
Het |
| Baz1a |
A |
G |
12: 54,981,589 (GRCm39) |
M355T |
probably benign |
Het |
| Brs3 |
G |
A |
X: 56,092,616 (GRCm39) |
V367M |
possibly damaging |
Het |
| Ccdc33 |
T |
C |
9: 57,940,200 (GRCm39) |
D524G |
probably damaging |
Het |
| Cd300lf |
T |
C |
11: 115,015,177 (GRCm39) |
T138A |
probably damaging |
Het |
| Cemip2 |
A |
G |
19: 21,829,598 (GRCm39) |
T1236A |
probably benign |
Het |
| Ces1g |
T |
C |
8: 94,029,678 (GRCm39) |
Y518C |
probably damaging |
Het |
| Chek2 |
C |
T |
5: 111,013,479 (GRCm39) |
|
probably benign |
Het |
| Cherp |
A |
G |
8: 73,223,780 (GRCm39) |
I201T |
possibly damaging |
Het |
| Cntnap2 |
A |
T |
6: 45,968,837 (GRCm39) |
H193L |
probably benign |
Het |
| Crim1 |
C |
A |
17: 78,588,783 (GRCm39) |
T286N |
probably benign |
Het |
| Cwc27 |
T |
A |
13: 104,929,023 (GRCm39) |
K307* |
probably null |
Het |
| Dbx2 |
T |
C |
15: 95,530,313 (GRCm39) |
D218G |
possibly damaging |
Het |
| Dclk1 |
G |
A |
3: 55,154,750 (GRCm39) |
R60Q |
probably damaging |
Het |
| Dnah17 |
A |
T |
11: 117,985,634 (GRCm39) |
I1481N |
possibly damaging |
Het |
| Dnah8 |
G |
A |
17: 31,073,872 (GRCm39) |
R4514H |
probably damaging |
Het |
| Dpp10 |
A |
T |
1: 123,281,286 (GRCm39) |
W588R |
probably damaging |
Het |
| Epg5 |
G |
A |
18: 78,000,725 (GRCm39) |
E554K |
probably damaging |
Het |
| Fchsd2 |
A |
G |
7: 100,841,006 (GRCm39) |
K172E |
possibly damaging |
Het |
| Foxd3 |
A |
G |
4: 99,545,736 (GRCm39) |
Y292C |
unknown |
Het |
| Gli1 |
C |
T |
10: 127,172,535 (GRCm39) |
M202I |
possibly damaging |
Het |
| Gm973 |
T |
C |
1: 59,664,299 (GRCm39) |
Y634H |
probably benign |
Het |
| Gpr132 |
G |
T |
12: 112,815,728 (GRCm39) |
A366E |
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Kcnq3 |
C |
T |
15: 65,902,372 (GRCm39) |
M201I |
probably benign |
Het |
| Khdc3 |
T |
C |
9: 73,011,628 (GRCm39) |
|
probably benign |
Het |
| Lrrc37a |
A |
G |
11: 103,388,372 (GRCm39) |
V2351A |
unknown |
Het |
| Mmrn2 |
G |
T |
14: 34,121,517 (GRCm39) |
|
probably null |
Het |
| Mtr |
A |
T |
13: 12,231,735 (GRCm39) |
N656K |
probably benign |
Het |
| Mtus1 |
T |
C |
8: 41,536,166 (GRCm39) |
T517A |
probably benign |
Het |
| Osgep |
G |
C |
14: 51,162,200 (GRCm39) |
N12K |
probably damaging |
Het |
| Pcare |
A |
T |
17: 72,057,155 (GRCm39) |
C841S |
probably benign |
Het |
| Prdx3 |
T |
A |
19: 60,853,621 (GRCm39) |
T235S |
probably benign |
Het |
| Rasa3 |
G |
A |
8: 13,628,635 (GRCm39) |
H608Y |
probably benign |
Het |
| Rd3 |
T |
C |
1: 191,717,217 (GRCm39) |
V114A |
probably damaging |
Het |
| Setd2 |
C |
T |
9: 110,421,586 (GRCm39) |
R273W |
probably damaging |
Het |
| Slc24a1 |
A |
T |
9: 64,835,426 (GRCm39) |
S900R |
probably damaging |
Het |
| Slc30a5 |
T |
C |
13: 100,954,655 (GRCm39) |
M170V |
probably benign |
Het |
| Slc4a9 |
T |
C |
18: 36,668,616 (GRCm39) |
V732A |
probably benign |
Het |
| Slc7a2 |
C |
T |
8: 41,358,590 (GRCm39) |
T311M |
possibly damaging |
Het |
| Smarcc1 |
T |
C |
9: 109,947,586 (GRCm39) |
|
probably benign |
Het |
| Stk32b |
A |
G |
5: 37,614,498 (GRCm39) |
S337P |
probably damaging |
Het |
| Thop1 |
G |
A |
10: 80,916,278 (GRCm39) |
G429S |
probably damaging |
Het |
| Timp2 |
C |
T |
11: 118,194,542 (GRCm39) |
D139N |
probably damaging |
Het |
| Tmem45a |
T |
C |
16: 56,627,101 (GRCm39) |
E256G |
probably damaging |
Het |
| Tox4 |
T |
A |
14: 52,517,299 (GRCm39) |
Y10N |
probably damaging |
Het |
| Trpm3 |
A |
G |
19: 22,878,524 (GRCm39) |
M642V |
possibly damaging |
Het |
| Ttll10 |
T |
C |
4: 156,120,257 (GRCm39) |
T508A |
probably damaging |
Het |
| Tut7 |
T |
A |
13: 59,937,069 (GRCm39) |
K791* |
probably null |
Het |
| Ubash3b |
C |
T |
9: 40,942,860 (GRCm39) |
D211N |
probably benign |
Het |
| Usp36 |
T |
A |
11: 118,170,650 (GRCm39) |
D28V |
possibly damaging |
Het |
| Vmn2r97 |
T |
C |
17: 19,167,873 (GRCm39) |
I709T |
probably damaging |
Het |
| Zfp936 |
T |
A |
7: 42,839,158 (GRCm39) |
N207K |
possibly damaging |
Het |
| Zfp946 |
T |
G |
17: 22,673,531 (GRCm39) |
I95S |
probably benign |
Het |
| Zhx3 |
A |
T |
2: 160,622,371 (GRCm39) |
S599T |
possibly damaging |
Het |
|
| Other mutations in Eya1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00978:Eya1
|
APN |
1 |
14,340,925 (GRCm39) |
splice site |
probably benign |
|
|
IGL01110:Eya1
|
APN |
1 |
14,353,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02266:Eya1
|
APN |
1 |
14,254,725 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL03027:Eya1
|
APN |
1 |
14,241,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03081:Eya1
|
APN |
1 |
14,253,415 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL03291:Eya1
|
APN |
1 |
14,254,572 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03353:Eya1
|
APN |
1 |
14,249,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0042:Eya1
|
UTSW |
1 |
14,254,713 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0042:Eya1
|
UTSW |
1 |
14,254,713 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1428:Eya1
|
UTSW |
1 |
14,374,638 (GRCm39) |
splice site |
probably benign |
|
|
R1521:Eya1
|
UTSW |
1 |
14,344,774 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1571:Eya1
|
UTSW |
1 |
14,279,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1768:Eya1
|
UTSW |
1 |
14,323,299 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1785:Eya1
|
UTSW |
1 |
14,241,198 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1840:Eya1
|
UTSW |
1 |
14,299,728 (GRCm39) |
nonsense |
probably null |
|
|
R2114:Eya1
|
UTSW |
1 |
14,340,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2131:Eya1
|
UTSW |
1 |
14,241,198 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2212:Eya1
|
UTSW |
1 |
14,344,433 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2416:Eya1
|
UTSW |
1 |
14,340,927 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2424:Eya1
|
UTSW |
1 |
14,341,072 (GRCm39) |
splice site |
probably benign |
|
|
R3085:Eya1
|
UTSW |
1 |
14,344,314 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3158:Eya1
|
UTSW |
1 |
14,374,691 (GRCm39) |
start gained |
probably benign |
|
|
R3412:Eya1
|
UTSW |
1 |
14,344,433 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3413:Eya1
|
UTSW |
1 |
14,344,433 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3693:Eya1
|
UTSW |
1 |
14,299,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3694:Eya1
|
UTSW |
1 |
14,299,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4454:Eya1
|
UTSW |
1 |
14,253,420 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4455:Eya1
|
UTSW |
1 |
14,253,420 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4456:Eya1
|
UTSW |
1 |
14,253,420 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4458:Eya1
|
UTSW |
1 |
14,253,420 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4761:Eya1
|
UTSW |
1 |
14,373,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5011:Eya1
|
UTSW |
1 |
14,254,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5013:Eya1
|
UTSW |
1 |
14,254,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5613:Eya1
|
UTSW |
1 |
14,373,153 (GRCm39) |
intron |
probably benign |
|
|
R5687:Eya1
|
UTSW |
1 |
14,253,476 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6052:Eya1
|
UTSW |
1 |
14,353,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6181:Eya1
|
UTSW |
1 |
14,373,096 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6378:Eya1
|
UTSW |
1 |
14,373,027 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6805:Eya1
|
UTSW |
1 |
14,253,501 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6863:Eya1
|
UTSW |
1 |
14,341,199 (GRCm39) |
splice site |
probably null |
|
|
R7032:Eya1
|
UTSW |
1 |
14,353,424 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7044:Eya1
|
UTSW |
1 |
14,301,634 (GRCm39) |
splice site |
probably null |
|
|
R7078:Eya1
|
UTSW |
1 |
14,301,636 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7179:Eya1
|
UTSW |
1 |
14,373,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7384:Eya1
|
UTSW |
1 |
14,299,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7462:Eya1
|
UTSW |
1 |
14,301,638 (GRCm39) |
missense |
probably null |
0.99 |
|
R8490:Eya1
|
UTSW |
1 |
14,254,899 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8527:Eya1
|
UTSW |
1 |
14,322,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8724:Eya1
|
UTSW |
1 |
14,279,206 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9462:Eya1
|
UTSW |
1 |
14,299,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9608:Eya1
|
UTSW |
1 |
14,373,029 (GRCm39) |
missense |
probably benign |
0.10 |
|
Z1176:Eya1
|
UTSW |
1 |
14,373,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Eya1
|
UTSW |
1 |
14,322,654 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Eya1
|
UTSW |
1 |
14,323,314 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
Z1177:Eya1
|
UTSW |
1 |
14,254,653 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGCAGCAAATGAAGAACCTAATTTG -3'
(R):5'- TTGTGTCCCTGCAGCAGAAC -3'
Sequencing Primer
(F):5'- GAAATGTGTTGTCATCCTGTCTC -3'
(R):5'- CAGAACTGTGGGAATTTGACTG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation