Incidental Mutation 'R4454:Eya1'
| ID |
329067 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eya1
|
| Ensembl Gene |
ENSMUSG00000025932 |
| Gene Name |
EYA transcriptional coactivator and phosphatase 1 |
| Synonyms |
bor |
| MMRRC Submission |
041714-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.847)
|
| Stock # |
R4454 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
14239178-14380459 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 14253420 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 519
(V519M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141112
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027066]
[ENSMUST00000080664]
[ENSMUST00000168081]
[ENSMUST00000190337]
|
| AlphaFold |
P97767 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027066
AA Change: V519M
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000027066
Gene: ENSMUSG00000025932
AA Change: V519M
| 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 damaging
Transcript: ENSMUST00000080664
AA Change: V486M
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000079493
Gene: ENSMUSG00000025932
AA Change: V486M
| 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 |
possibly damaging
Transcript: ENSMUST00000168081
AA Change: V515M
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000126383
Gene: ENSMUSG00000025932
AA Change: V515M
| 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 |
noncoding transcript
Transcript: ENSMUST00000179783
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000190337
AA Change: V519M
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000141112
Gene: ENSMUSG00000025932
AA Change: V519M
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
100% (51/51) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap4e1 |
T |
A |
2: 126,889,061 (GRCm39) |
F509I |
probably damaging |
Het |
| Asmt |
A |
T |
X: 169,106,456 (GRCm39) |
M19L |
probably benign |
Het |
| Atf6 |
C |
T |
1: 170,621,608 (GRCm39) |
R471Q |
probably damaging |
Het |
| Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
| Baiap3 |
T |
A |
17: 25,468,510 (GRCm39) |
D250V |
probably damaging |
Het |
| C2cd4d |
T |
A |
3: 94,271,054 (GRCm39) |
F107I |
probably damaging |
Het |
| Cdkn2d |
C |
G |
9: 21,202,185 (GRCm39) |
V21L |
probably benign |
Het |
| Cldn6 |
T |
C |
17: 23,900,060 (GRCm39) |
|
probably null |
Het |
| Cpa5 |
A |
G |
6: 30,626,323 (GRCm39) |
N228S |
possibly damaging |
Het |
| Cracdl |
T |
C |
1: 37,663,834 (GRCm39) |
E163G |
probably damaging |
Het |
| Crocc |
T |
C |
4: 140,747,716 (GRCm39) |
S1478G |
possibly damaging |
Het |
| Csmd1 |
A |
T |
8: 15,995,011 (GRCm39) |
C2675S |
probably damaging |
Het |
| Cthrc1 |
C |
A |
15: 38,940,408 (GRCm39) |
Q4K |
probably benign |
Het |
| Ddo |
A |
T |
10: 40,523,543 (GRCm39) |
I178F |
probably damaging |
Het |
| Dmxl1 |
A |
G |
18: 50,026,399 (GRCm39) |
T1836A |
probably benign |
Het |
| Dnah9 |
T |
G |
11: 66,038,215 (GRCm39) |
Q107P |
probably damaging |
Het |
| Dusp26 |
A |
G |
8: 31,584,172 (GRCm39) |
N93S |
probably damaging |
Het |
| Egr2 |
GAA |
GA |
10: 67,375,733 (GRCm39) |
|
probably null |
Het |
| Epha5 |
T |
C |
5: 84,304,303 (GRCm39) |
I501V |
probably damaging |
Het |
| Fam227b |
T |
A |
2: 125,988,188 (GRCm39) |
|
probably benign |
Het |
| Fgd5 |
C |
T |
6: 91,966,167 (GRCm39) |
S642F |
probably damaging |
Het |
| Fsip2 |
G |
T |
2: 82,821,120 (GRCm39) |
A5618S |
possibly damaging |
Het |
| Gm12034 |
T |
A |
11: 20,396,476 (GRCm39) |
|
noncoding transcript |
Het |
| Liph |
T |
C |
16: 21,803,018 (GRCm39) |
D17G |
probably benign |
Het |
| Mbd3 |
A |
T |
10: 80,229,817 (GRCm39) |
L164H |
probably damaging |
Het |
| Med4 |
A |
G |
14: 73,755,502 (GRCm39) |
|
probably benign |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Nav2 |
A |
T |
7: 49,198,292 (GRCm39) |
|
probably null |
Het |
| Or4k1 |
T |
C |
14: 50,377,953 (GRCm39) |
I48V |
probably benign |
Het |
| Or8b1b |
C |
A |
9: 38,375,938 (GRCm39) |
F200L |
probably benign |
Het |
| Pcdha11 |
G |
A |
18: 37,140,426 (GRCm39) |
G685D |
probably benign |
Het |
| Pgc |
A |
G |
17: 48,043,335 (GRCm39) |
I228V |
probably benign |
Het |
| Pramel25 |
A |
G |
4: 143,519,394 (GRCm39) |
S52G |
probably benign |
Het |
| Rad51 |
C |
T |
2: 118,962,049 (GRCm39) |
H199Y |
probably damaging |
Het |
| Robo2 |
A |
T |
16: 74,149,407 (GRCm39) |
|
probably benign |
Het |
| Sap130 |
C |
T |
18: 31,844,413 (GRCm39) |
T861I |
probably damaging |
Het |
| Sh3tc2 |
A |
T |
18: 62,140,844 (GRCm39) |
D1061V |
probably damaging |
Het |
| Shoc1 |
T |
C |
4: 59,092,383 (GRCm39) |
D266G |
possibly damaging |
Het |
| Snapc3 |
A |
G |
4: 83,336,996 (GRCm39) |
E119G |
probably damaging |
Het |
| Sspo |
G |
A |
6: 48,464,159 (GRCm39) |
G3862D |
probably benign |
Het |
| Tbc1d16 |
G |
A |
11: 119,048,699 (GRCm39) |
T318M |
possibly damaging |
Het |
| Thrb |
T |
A |
14: 18,011,187 (GRCm38) |
W188R |
probably damaging |
Het |
| Thsd1 |
T |
C |
8: 22,733,594 (GRCm39) |
Y214H |
probably damaging |
Het |
| Tnfrsf13b |
T |
C |
11: 61,032,264 (GRCm39) |
V98A |
probably benign |
Het |
| Topbp1 |
T |
C |
9: 103,222,070 (GRCm39) |
Y1314H |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,616,150 (GRCm39) |
V8271L |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,777,257 (GRCm39) |
M1382V |
probably benign |
Het |
| Utrn |
G |
T |
10: 12,603,584 (GRCm39) |
Q599K |
possibly damaging |
Het |
| Zfp995 |
G |
A |
17: 22,098,932 (GRCm39) |
T434I |
probably benign |
Het |
| Zfy1 |
G |
T |
Y: 725,518 (GRCm39) |
T749K |
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 |
|
R3899:Eya1
|
UTSW |
1 |
14,340,971 (GRCm39) |
missense |
probably benign |
0.04 |
|
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'- TTGAATGCCCAGCCTTTACC -3'
(R):5'- TGATCGTTCTACCTCGCAGG -3'
Sequencing Primer
(F):5'- CCAGCAAAGTTTTATCATTCAGCTG -3'
(R):5'- TCACAGACTCCTGGCTGAC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation