Mutagenetix > Incidental Mutation

Incidental Mutation 'R9408:Eya4'

711671

Institutional Source

Beutler Lab

Gene Symbol

Eya4

Ensembl Gene

ENSMUSG00000010461

Gene Name

EYA transcriptional coactivator and phosphatase 4

Synonyms

B130023L16Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9408 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

22978862-23226684 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 22999805 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 386 (M386K)

Ref Sequence

ENSEMBL: ENSMUSP00000090335 (fasta)

Gene Model

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

AlphaFold

Q9Z191

Predicted Effect

probably damaging
Transcript: ENSMUST00000074366
AA Change: M386K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000073970
Gene: ENSMUSG00000010461
AA Change: M386K

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

SMART Domains

Protein: ENSMUSP00000090335
Gene: ENSMUSG00000010461
AA Change: M386K

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

possibly damaging
Transcript: ENSMUST00000219315
AA Change: M409K

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000220299
AA Change: M386K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	G	A	6: 128,522,030 (GRCm39)	T1264I	probably damaging	Het
Aadac	T	A	3: 59,946,986 (GRCm39)	V228E	probably benign	Het
Abca4	A	T	3: 121,931,274 (GRCm39)	R1436W	probably benign	Het
Abo	A	G	2: 26,738,287 (GRCm39)	L39S	probably benign	Het
Acnat1	T	A	4: 49,447,773 (GRCm39)	R269S	probably benign	Het
Adap2	T	C	11: 80,045,942 (GRCm39)	V74A	probably damaging	Het
Ahctf1	C	A	1: 179,603,638 (GRCm39)	A803S	possibly damaging	Het
Ak6	A	G	13: 100,792,003 (GRCm39)	S149G	probably benign	Het
Ank	T	C	15: 27,591,588 (GRCm39)	V444A	probably damaging	Het
Armt1	AC	A	10: 4,400,848 (GRCm39)		probably null	Het
Atf7	A	C	15: 102,462,286 (GRCm39)	V112G	probably damaging	Het
Brca2	A	G	5: 150,464,982 (GRCm39)	Y1582C	probably damaging	Het
Bricd5	G	T	17: 24,693,083 (GRCm39)		probably benign	Het
Bsn	C	A	9: 108,016,652 (GRCm39)	E120*	probably null	Het
Cacna1g	T	G	11: 94,321,050 (GRCm39)	N1348T	probably damaging	Het
Ccnc	T	G	4: 21,746,776 (GRCm39)		probably null	Het
Cd163	A	G	6: 124,297,497 (GRCm39)	D881G	probably benign	Het
Cep295	G	A	9: 15,244,619 (GRCm39)	P1279L	probably benign	Het
Cic	G	A	7: 24,971,414 (GRCm39)	V382I	possibly damaging	Het
Cyp21a1	G	A	17: 35,020,860 (GRCm39)	S453F	probably damaging	Het
D16Ertd472e	A	T	16: 78,344,646 (GRCm39)	I154N	probably benign	Het
Dbf4	A	G	5: 8,447,764 (GRCm39)	V482A	possibly damaging	Het
Dchs2	G	A	3: 83,192,573 (GRCm39)	V1673M	probably benign	Het
Dctd	T	A	8: 48,590,385 (GRCm39)	C119S	probably damaging	Het
Dock1	A	G	7: 134,717,065 (GRCm39)	T1234A	probably damaging	Het
Efcab3	T	A	11: 104,621,255 (GRCm39)		probably null	Het
Fbxw19	T	A	9: 109,315,101 (GRCm39)	M154L	probably benign	Het
Frmpd1	T	A	4: 45,279,182 (GRCm39)	S636T	probably benign	Het
Glb1l	A	T	1: 75,177,683 (GRCm39)	Y412N	probably damaging	Het
Gnb5	T	A	9: 75,218,696 (GRCm39)	L7Q	probably damaging	Het
Gpr19	C	T	6: 134,864,704 (GRCm39)	V3M	unknown	Het
Hivep2	A	G	10: 14,007,505 (GRCm39)	T1368A	probably damaging	Het
Hmx3	A	T	7: 131,146,102 (GRCm39)	Q270L	probably damaging	Het
Il1rap	A	T	16: 26,533,675 (GRCm39)	I524F	possibly damaging	Het
Mettl17	G	A	14: 52,125,491 (GRCm39)	G198D	probably damaging	Het
Mga	T	A	2: 119,765,999 (GRCm39)	I1421N	possibly damaging	Het
Myb	T	A	10: 21,026,275 (GRCm39)	Q231L	probably benign	Het
Myef2l	T	A	3: 10,154,407 (GRCm39)	M392K	probably benign	Het
Myf5	G	A	10: 107,321,527 (GRCm39)	T89I	probably damaging	Het
Nup214	T	A	2: 31,937,523 (GRCm39)	L1999Q	probably damaging	Het
Or10aa3	T	C	1: 173,878,329 (GRCm39)	L130P		Het
Or1ad6	T	A	11: 50,860,613 (GRCm39)	L256Q	probably damaging	Het
Or4a76	A	G	2: 89,460,388 (GRCm39)	Y285H	probably damaging	Het
Or51t4	A	T	7: 102,598,443 (GRCm39)	H257L	probably damaging	Het
Or5w19	G	A	2: 87,698,379 (GRCm39)	G15R	probably damaging	Het
Or7a36	A	G	10: 78,820,220 (GRCm39)	M199V	probably benign	Het
Otog	A	T	7: 45,916,721 (GRCm39)	D886V	possibly damaging	Het
Pde7a	A	C	3: 19,287,958 (GRCm39)	V237G	possibly damaging	Het
Pigs	T	C	11: 78,230,213 (GRCm39)	Y327H	probably damaging	Het
Pkd2l2	T	C	18: 34,563,383 (GRCm39)	V478A	probably damaging	Het
Pnrc1	C	A	4: 33,246,488 (GRCm39)	G157V	probably damaging	Het
Poglut1	G	T	16: 38,347,137 (GRCm39)	S343R	probably benign	Het
Ppwd1	A	G	13: 104,346,155 (GRCm39)	M500T	possibly damaging	Het
Pyy	C	T	11: 101,998,111 (GRCm39)	G23E	probably damaging	Het
Ripor3	T	A	2: 167,831,238 (GRCm39)	D521V	probably benign	Het
Rnpepl1	T	C	1: 92,845,424 (GRCm39)	S448P	probably benign	Het
Sash1	G	A	10: 8,637,994 (GRCm39)		probably benign	Het
Sbf2	T	C	7: 110,040,702 (GRCm39)	Q375R	possibly damaging	Het
Synj1	C	T	16: 90,741,740 (GRCm39)	C1252Y	probably benign	Het
Tenm2	A	T	11: 35,960,246 (GRCm39)	L1027Q	probably damaging	Het
Tep1	A	G	14: 51,074,637 (GRCm39)	V1796A	possibly damaging	Het
Timp3	A	T	10: 86,136,782 (GRCm39)	E22V	possibly damaging	Het
Tlk1	A	C	2: 70,617,219 (GRCm39)		probably null	Het
Tmco1	C	A	1: 167,141,700 (GRCm39)	T69K		Het
Topaz1	T	A	9: 122,626,728 (GRCm39)	M1452K	probably benign	Het
Tsc22d2	T	C	3: 58,367,453 (GRCm39)	Y668H	unknown	Het
Uri1	A	T	7: 37,669,031 (GRCm39)	D153E	probably benign	Het
Vmn1r169	A	T	7: 23,277,342 (GRCm39)	T245S	probably damaging	Het
Vmn1r60	A	G	7: 5,547,918 (GRCm39)	Y61H		Het
Zfp541	A	T	7: 15,806,139 (GRCm39)	E91D	probably damaging	Het
Zfp946	A	G	17: 22,673,569 (GRCm39)	N108D	possibly damaging	Het
Zpr1	T	C	9: 46,186,747 (GRCm39)	L194P	probably damaging	Het
Zzef1	T	A	11: 72,755,653 (GRCm39)	N1027K	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
R2312:Eya4	UTSW	10	22,982,163 (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
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'- AACTTTACAGCTCTTGGGAGGG -3'
(R):5'- GCTTGCATGCTTCTCTTATGAATG -3'

Sequencing Primer
(F):5'- CTTGGGAGGGTGAGCCTCTC -3'
(R):5'- TATTCTGACCACCTGAGAGACTAAG -3'

Posted On

2022-05-16