Incidental Mutation 'R2312:Eya4'
| ID |
247349 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eya4
|
| Ensembl Gene |
ENSMUSG00000010461 |
| Gene Name |
EYA transcriptional coactivator and phosphatase 4 |
| Synonyms |
B130023L16Rik |
| MMRRC Submission |
040311-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2312 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
22978862-23226684 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 22982163 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 622
(S622P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151483
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074366]
[ENSMUST00000092665]
[ENSMUST00000219315]
[ENSMUST00000220299]
|
| AlphaFold |
Q9Z191 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074366
AA Change: S599P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000073970
Gene: ENSMUSG00000010461
AA Change: S599P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
72 |
N/A |
INTRINSIC |
|
low complexity region
|
231 |
243 |
N/A |
INTRINSIC |
|
low complexity region
|
322 |
334 |
N/A |
INTRINSIC |
|
PDB:4EGC|B
|
336 |
616 |
1e-163 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092665
AA Change: S599P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000090335
Gene: ENSMUSG00000010461
AA Change: S599P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
72 |
N/A |
INTRINSIC |
|
low complexity region
|
231 |
243 |
N/A |
INTRINSIC |
|
low complexity region
|
322 |
334 |
N/A |
INTRINSIC |
|
PDB:4EGC|B
|
336 |
616 |
1e-172 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219315
AA Change: S622P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220299
AA Change: S599P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.5%
|
| 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 through its protein phosphatase activity, and it may be important for eye development, and for continued function of the mature organ of Corti. Mutations in this gene are associated with postlingual, progressive, autosomal dominant hearing loss at the deafness, autosomal dominant non-syndromic sensorineural 10 locus. The encoded protein is also a putative oncogene that mediates DNA repair, apoptosis, and innate immunity following DNA damage, cellular damage, and viral attack. Defects in this gene are also associated with dilated cardiomyopathy 1J. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]
PHENOTYPE: Homozygous null mice show strain background-dependent postnatal lethality, reduced body weight, male sterility, a delay in palate bone fusion, developmental defects in the eustachian tube and middle ear cavity, early-onset hearing deficits, and profound susceptibility to otitis media with effusion. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aqp12 |
A |
G |
1: 92,934,531 (GRCm39) |
E136G |
probably benign |
Het |
| Bltp3b |
A |
G |
10: 89,616,995 (GRCm39) |
T179A |
probably damaging |
Het |
| Cdhr4 |
G |
A |
9: 107,872,486 (GRCm39) |
V244I |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Crygf |
A |
T |
1: 65,965,717 (GRCm39) |
M1L |
probably benign |
Het |
| Dapk1 |
G |
T |
13: 60,905,167 (GRCm39) |
C959F |
probably damaging |
Het |
| Dop1a |
C |
G |
9: 86,403,495 (GRCm39) |
S1565* |
probably null |
Het |
| Fbln1 |
T |
C |
15: 85,147,549 (GRCm39) |
V598A |
probably benign |
Het |
| Gldc |
A |
T |
19: 30,078,226 (GRCm39) |
F924I |
probably damaging |
Het |
| H1f10 |
T |
C |
6: 87,958,130 (GRCm39) |
Y70C |
probably damaging |
Het |
| Herc1 |
C |
A |
9: 66,415,563 (GRCm39) |
S4846* |
probably null |
Het |
| Jmjd1c |
A |
T |
10: 67,074,629 (GRCm39) |
K1917N |
probably damaging |
Het |
| Kcnh2 |
A |
G |
5: 24,529,952 (GRCm39) |
|
probably null |
Het |
| Lmtk2 |
T |
C |
5: 144,110,444 (GRCm39) |
F388S |
probably damaging |
Het |
| Lpar1 |
A |
C |
4: 58,487,168 (GRCm39) |
Y34* |
probably null |
Het |
| Lrpprc |
G |
A |
17: 85,080,686 (GRCm39) |
P180S |
probably damaging |
Het |
| Mex3a |
A |
G |
3: 88,443,785 (GRCm39) |
H287R |
probably damaging |
Het |
| Nid1 |
A |
G |
13: 13,675,078 (GRCm39) |
T933A |
probably benign |
Het |
| Or52r1c |
A |
G |
7: 102,735,633 (GRCm39) |
T298A |
probably damaging |
Het |
| Pcdhb7 |
A |
G |
18: 37,475,250 (GRCm39) |
T129A |
probably benign |
Het |
| Pfkm |
T |
A |
15: 98,023,456 (GRCm39) |
Y385N |
probably damaging |
Het |
| Prmt2 |
G |
A |
10: 76,062,089 (GRCm39) |
Q39* |
probably null |
Het |
| Prx |
T |
C |
7: 27,216,051 (GRCm39) |
V184A |
possibly damaging |
Het |
| Ptgdr |
A |
C |
14: 45,096,619 (GRCm39) |
L31R |
probably damaging |
Het |
| Rab3b |
A |
G |
4: 108,747,691 (GRCm39) |
T63A |
probably damaging |
Het |
| Rassf1 |
T |
C |
9: 107,434,749 (GRCm39) |
M156T |
probably damaging |
Het |
| Rhobtb1 |
C |
A |
10: 69,106,293 (GRCm39) |
S286* |
probably null |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Rmnd1 |
A |
T |
10: 4,377,466 (GRCm39) |
M71K |
probably benign |
Het |
| Rnf130 |
T |
A |
11: 49,978,290 (GRCm39) |
|
probably null |
Het |
| Rxrb |
T |
A |
17: 34,251,103 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
G |
T |
13: 11,753,128 (GRCm39) |
T1731K |
probably damaging |
Het |
| Serpine2 |
A |
T |
1: 79,780,570 (GRCm39) |
L293Q |
probably damaging |
Het |
| Skint6 |
T |
C |
4: 113,095,339 (GRCm39) |
T107A |
probably damaging |
Het |
| Slc9a8 |
T |
A |
2: 167,293,196 (GRCm39) |
H181Q |
probably benign |
Het |
| Spaca3 |
A |
T |
11: 80,754,037 (GRCm39) |
Y58F |
possibly damaging |
Het |
| Sptbn1 |
T |
C |
11: 30,104,249 (GRCm39) |
T152A |
probably damaging |
Het |
| Tlr2 |
A |
G |
3: 83,744,847 (GRCm39) |
L412P |
probably damaging |
Het |
| Trak2 |
A |
G |
1: 58,974,941 (GRCm39) |
S84P |
probably damaging |
Het |
| Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
| Trpm2 |
C |
A |
10: 77,754,798 (GRCm39) |
E1229D |
probably benign |
Het |
| Ttc14 |
A |
G |
3: 33,861,984 (GRCm39) |
|
probably null |
Het |
| Tyrp1 |
G |
A |
4: 80,755,801 (GRCm39) |
W190* |
probably null |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Vegfb |
C |
A |
19: 6,962,795 (GRCm39) |
R160L |
possibly damaging |
Het |
| Vmn1r220 |
A |
G |
13: 23,368,147 (GRCm39) |
M183T |
probably damaging |
Het |
| Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
| Wnt10a |
C |
A |
1: 74,842,589 (GRCm39) |
A355E |
possibly damaging |
Het |
|
| Other mutations in Eya4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00435:Eya4
|
APN |
10 |
23,034,995 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL00507:Eya4
|
APN |
10 |
23,033,434 (GRCm39) |
nonsense |
probably null |
|
|
IGL01324:Eya4
|
APN |
10 |
22,992,449 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01350:Eya4
|
APN |
10 |
22,989,873 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01397:Eya4
|
APN |
10 |
23,015,897 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02682:Eya4
|
APN |
10 |
22,992,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02688:Eya4
|
APN |
10 |
23,035,008 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03071:Eya4
|
APN |
10 |
23,198,971 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0420:Eya4
|
UTSW |
10 |
23,031,861 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1688:Eya4
|
UTSW |
10 |
22,999,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3029:Eya4
|
UTSW |
10 |
22,999,776 (GRCm39) |
missense |
probably benign |
|
|
R3853:Eya4
|
UTSW |
10 |
22,992,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3872:Eya4
|
UTSW |
10 |
23,031,870 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4113:Eya4
|
UTSW |
10 |
23,031,849 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4210:Eya4
|
UTSW |
10 |
23,102,698 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4457:Eya4
|
UTSW |
10 |
22,992,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4691:Eya4
|
UTSW |
10 |
23,015,966 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4894:Eya4
|
UTSW |
10 |
22,985,753 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5345:Eya4
|
UTSW |
10 |
22,985,947 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5473:Eya4
|
UTSW |
10 |
23,039,351 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5547:Eya4
|
UTSW |
10 |
22,985,753 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5698:Eya4
|
UTSW |
10 |
23,015,975 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5951:Eya4
|
UTSW |
10 |
23,031,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5953:Eya4
|
UTSW |
10 |
23,027,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6111:Eya4
|
UTSW |
10 |
23,015,953 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6413:Eya4
|
UTSW |
10 |
22,992,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6460:Eya4
|
UTSW |
10 |
23,027,910 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7144:Eya4
|
UTSW |
10 |
23,048,943 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7169:Eya4
|
UTSW |
10 |
23,031,845 (GRCm39) |
missense |
probably benign |
0.42 |
|
R7358:Eya4
|
UTSW |
10 |
22,999,749 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7549:Eya4
|
UTSW |
10 |
22,987,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7791:Eya4
|
UTSW |
10 |
22,989,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7793:Eya4
|
UTSW |
10 |
23,102,714 (GRCm39) |
missense |
probably benign |
|
|
R8550:Eya4
|
UTSW |
10 |
22,982,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8553:Eya4
|
UTSW |
10 |
22,982,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8556:Eya4
|
UTSW |
10 |
22,982,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8703:Eya4
|
UTSW |
10 |
23,039,340 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9332:Eya4
|
UTSW |
10 |
22,989,845 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9361:Eya4
|
UTSW |
10 |
22,985,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9408:Eya4
|
UTSW |
10 |
22,999,805 (GRCm39) |
missense |
|
|
|
R9497:Eya4
|
UTSW |
10 |
22,987,458 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9713:Eya4
|
UTSW |
10 |
23,027,870 (GRCm39) |
nonsense |
probably null |
|
|
Z1088:Eya4
|
UTSW |
10 |
22,989,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTGAATTCTTCACTCTGGAG -3'
(R):5'- ACTTCCACCTGTAGATGGCCTC -3'
Sequencing Primer
(F):5'- CCGAGTATGATTTCATCCGTTAAGAC -3'
(R):5'- CACCTGTAGATGGCCTCTATTAAAC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation