Mutagenetix > Incidental Mutations

Incidental Mutation 'R0420:Eya4'

37000

Institutional Source

Beutler Lab

Gene Symbol

Eya4

Ensembl Gene

ENSMUSG00000010461

Gene Name

EYA transcriptional coactivator and phosphatase 4

Synonyms

B130023L16Rik

MMRRC Submission

038622-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0420 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23102963-23350786 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23155963 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 254 (N254S)

Ref Sequence

ENSEMBL: ENSMUSP00000151483 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074366] [ENSMUST00000092665] [ENSMUST00000218049] [ENSMUST00000219315] [ENSMUST00000220299]

Predicted Effect

probably benign
Transcript: ENSMUST00000074366
AA Change: N231S

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000073970
Gene: ENSMUSG00000010461
AA Change: N231S

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 benign
Transcript: ENSMUST00000092665
AA Change: N231S

PolyPhen 2 Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000090335
Gene: ENSMUSG00000010461
AA Change: N231S

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 benign
Transcript: ENSMUST00000218049

Predicted Effect

possibly damaging
Transcript: ENSMUST00000219315
AA Change: N254S

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000220299
AA Change: N231S

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

Meta Mutation Damage Score

0.0698

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.2%

Validation Efficiency

100% (76/76)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930415O20Rik	A	G	15: 98,571,094	S17G	probably benign	Het
Abcb4	T	C	5: 8,941,050	V870A	probably benign	Het
Adam6b	A	T	12: 113,489,994	M144L	probably benign	Het
Adrb2	T	A	18: 62,179,539	I72L	possibly damaging	Het
Ankrd53	A	T	6: 83,763,692	H99L	probably damaging	Het
Ap4e1	C	T	2: 127,049,360	T17M	probably damaging	Het
Arnt	T	A	3: 95,470,394		probably benign	Het
Atp1a3	C	T	7: 24,980,627	G884E	probably benign	Het
Atp6v1b1	T	C	6: 83,752,844		probably benign	Het
Atp8a2	G	T	14: 59,773,744	T971K	probably damaging	Het
BC048562	A	T	9: 108,445,966	T167S	probably benign	Het
Brd9	A	G	13: 73,955,473	M491V	probably benign	Het
Btnl10	A	T	11: 58,923,451	D319V	probably damaging	Het
Cadps	T	A	14: 12,491,800	R783S	probably damaging	Het
Ccdc149	A	G	5: 52,400,239		probably benign	Het
Ccm2l	A	T	2: 153,070,862	D107V	probably null	Het
Cep192	A	G	18: 67,813,893	E213G	possibly damaging	Het
Cyp2c37	A	C	19: 39,995,794	N242T	probably benign	Het
Dnah17	A	G	11: 118,039,939	V3750A	probably damaging	Het
Ehbp1	T	A	11: 22,151,836	I231L	probably benign	Het
Emilin3	A	G	2: 160,910,879		probably benign	Het
Fam184b	A	G	5: 45,584,512	S126P	probably damaging	Het
Fancd2	T	C	6: 113,536,979	L108P	probably damaging	Het
Fgf12	A	T	16: 28,162,529	M145K	possibly damaging	Het
Gabbr1	A	G	17: 37,046,762	N23S	possibly damaging	Het
Ggt1	T	A	10: 75,576,213		probably benign	Het
Gm1966	T	A	7: 106,603,883	L51F	probably damaging	Het
Gm6434	T	A	7: 25,882,361		noncoding transcript	Het
Gm6614	T	G	6: 141,985,477		probably benign	Het
Grik4	A	T	9: 42,622,096	L376*	probably null	Het
Gzf1	A	G	2: 148,683,833	T75A	probably benign	Het
Hcn1	T	C	13: 117,975,375	I625T	unknown	Het
Hhat	C	T	1: 192,552,934		probably null	Het
Ifit1bl1	T	C	19: 34,594,514	E181G	probably damaging	Het
Kif21a	T	C	15: 90,968,054		probably benign	Het
Lrrc45	A	C	11: 120,715,219	S118R	probably damaging	Het
Mcm9	T	C	10: 53,548,527	I656V	probably benign	Het
Ms4a5	A	G	19: 11,283,654	L47S	probably damaging	Het
Mynn	A	T	3: 30,607,459	N230I	probably benign	Het
Nck2	T	C	1: 43,554,118	S162P	probably damaging	Het
Nfat5	T	C	8: 107,367,461	F259S	probably damaging	Het
Obox1	T	G	7: 15,556,253	S174A	possibly damaging	Het
Ociad1	T	A	5: 73,313,429		probably null	Het
Pgbd1	A	T	13: 21,423,166	V286E	possibly damaging	Het
Phlpp2	T	C	8: 109,939,935	V1032A	probably damaging	Het
Ppm1e	C	T	11: 87,240,614	A318T	probably damaging	Het
Prex1	T	A	2: 166,589,571	D757V	probably benign	Het
Ptpdc1	C	A	13: 48,589,119		probably null	Het
Rbbp5	T	G	1: 132,493,844	I94R	possibly damaging	Het
Rnpc3	A	G	3: 113,621,869	V173A	probably benign	Het
Sgsm1	A	T	5: 113,263,759	N700K	probably benign	Het
Sox14	T	A	9: 99,875,122	H188L	probably damaging	Het
Supt5	T	A	7: 28,317,329		probably benign	Het
Synpo	A	G	18: 60,602,418	S819P	probably damaging	Het
Tenm2	A	G	11: 36,207,124		probably benign	Het
Tenm4	T	C	7: 96,873,766	V1468A	possibly damaging	Het
Tiam2	A	G	17: 3,502,918	N83S	probably benign	Het
Tle6	T	C	10: 81,595,311		probably benign	Het
Tm2d2	T	G	8: 25,018,114	N91K	probably damaging	Het
Tmem132d	T	G	5: 127,864,646	Q463H	probably benign	Het
Tmf1	A	G	6: 97,176,141	S324P	probably damaging	Het
Tnc	T	C	4: 64,000,159	T1172A	probably benign	Het
Usp17lb	A	T	7: 104,840,539	C393S	probably benign	Het
Usp42	G	A	5: 143,714,861	L1136F	probably damaging	Het
Vmn2r92	T	G	17: 18,168,921	M499R	probably benign	Het
Vps54	T	A	11: 21,311,071		probably benign	Het
Wdr6	C	T	9: 108,573,101	R1076H	probably benign	Het
Wdr72	T	A	9: 74,210,757	M917K	possibly damaging	Het
Wee2	T	C	6: 40,456,995	V281A	probably benign	Het
Zc3h6	A	G	2: 129,014,827	D609G	probably benign	Het
Zfp345	G	A	2: 150,473,243	H125Y	possibly damaging	Het
Zhx2	A	G	15: 57,821,840	K202E	probably damaging	Het
Zic2	CCCACCACCACCATCACCACCACCACC	CCCACCATCACCACCACCACC	14: 122,476,364		probably benign	Het

Other mutations in Eya4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00435:Eya4	APN	10	23159097	missense	probably benign	0.17
IGL00507:Eya4	APN	10	23157536	nonsense	probably null
IGL01324:Eya4	APN	10	23116551	critical splice donor site	probably null
IGL01350:Eya4	APN	10	23113974	missense	possibly damaging	0.88
IGL01397:Eya4	APN	10	23139999	missense	probably benign	0.01
IGL02682:Eya4	APN	10	23116600	missense	probably damaging	1.00
IGL02688:Eya4	APN	10	23159110	missense	probably benign	0.01
IGL03071:Eya4	APN	10	23323073	missense	probably benign	0.07
R1688:Eya4	UTSW	10	23123861	missense	probably damaging	1.00
R2312:Eya4	UTSW	10	23106264	missense	probably damaging	1.00
R3029:Eya4	UTSW	10	23123878	missense	probably benign
R3853:Eya4	UTSW	10	23116676	missense	probably damaging	1.00
R3872:Eya4	UTSW	10	23155972	missense	probably damaging	0.97
R4113:Eya4	UTSW	10	23155951	missense	probably damaging	0.98
R4210:Eya4	UTSW	10	23226800	critical splice donor site	probably null
R4457:Eya4	UTSW	10	23116668	missense	probably damaging	1.00
R4691:Eya4	UTSW	10	23140068	missense	probably benign	0.03
R4894:Eya4	UTSW	10	23109854	missense	possibly damaging	0.55
R5345:Eya4	UTSW	10	23110048	missense	probably benign	0.00
R5473:Eya4	UTSW	10	23163453	missense	probably benign	0.02
R5547:Eya4	UTSW	10	23109854	missense	possibly damaging	0.55
R5698:Eya4	UTSW	10	23140077	missense	possibly damaging	0.50
R5951:Eya4	UTSW	10	23155994	missense	probably damaging	1.00
R5953:Eya4	UTSW	10	23151973	missense	probably damaging	1.00
R6111:Eya4	UTSW	10	23140055	missense	possibly damaging	0.67
R6413:Eya4	UTSW	10	23116826	missense	probably damaging	1.00
R6460:Eya4	UTSW	10	23152012	missense	probably benign	0.05
R7144:Eya4	UTSW	10	23173045	missense	probably benign	0.00
R7169:Eya4	UTSW	10	23155947	missense	probably benign	0.42
R7358:Eya4	UTSW	10	23123851	critical splice donor site	probably null
R7549:Eya4	UTSW	10	23111658	missense	probably damaging	1.00
R7791:Eya4	UTSW	10	23113926	missense	probably damaging	1.00
R7793:Eya4	UTSW	10	23226816	missense	probably benign
Z1088:Eya4	UTSW	10	23113988	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGCAAGAGAGCAAGAACATGAG -3'
(R):5'- CCTCATCCATCACACAGCTACAA -3'

Sequencing Primer
(F):5'- AAGGGAGGGAGAAAAGGATG -3'
(R):5'- CAAGTGACCAGGTTTCAGTC -3'

Posted On

2013-05-09