Mutagenetix > Incidental Mutation

Incidental Mutation 'R9497:Eya4'

717302

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 #

R9497 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

22978862-23226684 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 22987458 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000090335 (fasta)

Gene Model

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

AlphaFold

Q9Z191

Predicted Effect

probably benign
Transcript: ENSMUST00000074366

SMART Domains

Protein: ENSMUSP00000073970
Gene: ENSMUSG00000010461

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 null
Transcript: ENSMUST00000092665

SMART Domains

Protein: ENSMUSP00000090335
Gene: ENSMUSG00000010461

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: ENSMUST00000219315

Predicted Effect

probably benign
Transcript: ENSMUST00000220299

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	A	C	1: 85,973,893 (GRCm39)	E70A	possibly damaging	Het
Abcb5	C	A	12: 118,899,850 (GRCm39)	Q272H	probably damaging	Het
Acoxl	T	C	2: 127,719,706 (GRCm39)	Y156H	probably damaging	Het
Alg9	T	C	9: 50,711,436 (GRCm39)	F305L	probably damaging	Het
Apobec4	T	C	1: 152,632,947 (GRCm39)	V325A	probably benign	Het
Aqp9	T	G	9: 71,069,651 (GRCm39)	D46A	probably benign	Het
Atp13a4	T	A	16: 29,288,130 (GRCm39)		probably null	Het
BC051019	A	G	7: 109,315,466 (GRCm39)	F263S	probably damaging	Het
Bicc1	A	T	10: 70,776,828 (GRCm39)		probably null	Het
Birc2	G	A	9: 7,861,028 (GRCm39)	Q97*	probably null	Het
Capn13	G	T	17: 73,633,362 (GRCm39)	T533N	probably benign	Het
Casp6	G	A	3: 129,699,559 (GRCm39)	V13M	probably benign	Het
Cdh10	A	T	15: 18,964,267 (GRCm39)	E143V	probably damaging	Het
Cobl	T	A	11: 12,203,501 (GRCm39)	Q1067L	probably benign	Het
Cr2	A	G	1: 194,850,743 (GRCm39)	V241A	probably damaging	Het
Cyp2c23	C	T	19: 44,010,085 (GRCm39)	V87M	probably damaging	Het
Cyp2j9	G	A	4: 96,460,211 (GRCm39)	Q431*	probably null	Het
Cyp2t4	G	A	7: 26,854,717 (GRCm39)	V66M	possibly damaging	Het
Cyp4a12b	A	T	4: 115,271,768 (GRCm39)	M160L	probably benign	Het
Ddhd2	T	A	8: 26,217,731 (GRCm39)	K715N	possibly damaging	Het
Ecscr	T	C	18: 35,851,436 (GRCm39)	Y32C	probably damaging	Het
Ednra	A	T	8: 78,446,934 (GRCm39)	L48Q	probably benign	Het
F13a1	C	A	13: 37,082,118 (GRCm39)	V529L	probably benign	Het
Fam151b	A	T	13: 92,610,621 (GRCm39)	I56K	probably damaging	Het
Fat3	A	G	9: 15,903,504 (GRCm39)	I2997T	probably damaging	Het
Fgfr2	A	T	7: 129,765,763 (GRCm39)	F817I	probably damaging	Het
Fras1	G	T	5: 96,884,895 (GRCm39)	C2591F	probably damaging	Het
Fryl	T	C	5: 73,215,134 (GRCm39)	D2214G		Het
Galntl6	A	T	8: 58,290,410 (GRCm39)	D394E	probably damaging	Het
Ggcx	C	A	6: 72,406,190 (GRCm39)	N605K	probably damaging	Het
Gja5	A	G	3: 96,958,801 (GRCm39)	N286S		Het
Gm4553	A	T	7: 141,719,298 (GRCm39)	C43*	probably null	Het
Gpr158	T	C	2: 21,831,825 (GRCm39)	V975A	probably benign	Het
Greb1l	T	A	18: 10,458,600 (GRCm39)	D60E	probably benign	Het
Hao2	A	T	3: 98,784,462 (GRCm39)	L301H	probably damaging	Het
Hic1	A	G	11: 75,060,131 (GRCm39)	L72P	possibly damaging	Het
Hs3st5	A	C	10: 36,709,370 (GRCm39)	N302H	probably benign	Het
Htr1d	A	G	4: 136,169,663 (GRCm39)		probably benign	Het
Inka1	A	G	9: 107,861,938 (GRCm39)	V128A	probably benign	Het
Kdm7a	T	C	6: 39,128,253 (GRCm39)	D526G	probably damaging	Het
Kif5a	T	C	10: 127,079,353 (GRCm39)	S282G	probably damaging	Het
Klhdc7b	T	C	15: 89,272,463 (GRCm39)	V457A	possibly damaging	Het
Lcorl	A	G	5: 45,891,339 (GRCm39)	V421A	probably benign	Het
Ltc4s	A	G	11: 50,127,386 (GRCm39)	S150P	unknown	Het
Mdfic	C	T	6: 15,720,852 (GRCm39)	R18W	unknown	Het
Mdfic	T	G	6: 15,770,508 (GRCm39)	D171E	probably benign	Het
Meis2	T	C	2: 115,694,724 (GRCm39)	D473G	possibly damaging	Het
Mettl17	A	T	14: 52,129,029 (GRCm39)	Q433L	unknown	Het
Mettl25	T	C	10: 105,677,090 (GRCm39)	R31G	probably damaging	Het
Mroh2b	T	A	15: 4,950,845 (GRCm39)	I581N	probably damaging	Het
Myh7	A	T	14: 55,217,841 (GRCm39)	N1091K	probably benign	Het
Mysm1	T	C	4: 94,848,635 (GRCm39)	D466G	probably benign	Het
Ncoa6	T	C	2: 155,248,238 (GRCm39)	T1689A	probably damaging	Het
Ndfip2	A	G	14: 105,542,245 (GRCm39)	T332A	probably benign	Het
Nfkbil1	G	A	17: 35,439,605 (GRCm39)	P303S	probably damaging	Het
Nfx1	T	G	4: 40,994,104 (GRCm39)	N604K	probably benign	Het
Npb	T	C	11: 120,499,473 (GRCm39)	F47L	probably benign	Het
Nr2c2	C	T	6: 92,133,673 (GRCm39)	T259I	possibly damaging	Het
Nt5el	G	T	13: 105,236,987 (GRCm39)	L79F	probably damaging	Het
Obsl1	C	T	1: 75,467,484 (GRCm39)	C1430Y	probably damaging	Het
Or10al5	T	A	17: 38,062,942 (GRCm39)	Y66N	probably damaging	Het
Or10b1	A	G	10: 78,355,738 (GRCm39)	I99V	probably benign	Het
Or10g6	A	T	9: 39,934,616 (GRCm39)	H309L	probably benign	Het
Or4d5	G	A	9: 40,011,935 (GRCm39)	P284S	probably damaging	Het
Or4n4b	C	T	14: 50,536,362 (GRCm39)	V135I	probably benign	Het
Or6c202	C	A	10: 128,996,464 (GRCm39)	V130L	probably benign	Het
Or6f1	G	A	7: 85,970,989 (GRCm39)	T57M	probably damaging	Het
Pdcd6	A	T	13: 74,453,695 (GRCm39)	F148I	probably damaging	Het
Pih1d1	A	T	7: 44,803,789 (GRCm39)	Q16L	unknown	Het
Ppp1r10	T	C	17: 36,235,786 (GRCm39)	S123P	probably damaging	Het
Ppp1r13b	A	T	12: 111,807,446 (GRCm39)	M305K	probably benign	Het
Prg2	A	G	2: 84,811,685 (GRCm39)	K2E	possibly damaging	Het
Prkd1	A	T	12: 50,438,107 (GRCm39)		probably null	Het
Rfx7	T	A	9: 72,526,423 (GRCm39)	H1204Q	probably benign	Het
Serpina3k	A	C	12: 104,309,430 (GRCm39)	Q291H	probably benign	Het
Tafa4	T	A	6: 96,820,831 (GRCm39)	I93F	possibly damaging	Het
Tas2r107	G	T	6: 131,636,549 (GRCm39)	Q167K	probably benign	Het
Tle1	A	C	4: 72,071,135 (GRCm39)		probably benign	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Trpa1	C	T	1: 14,989,026 (GRCm39)	E12K	probably benign	Het
Vmn2r7	T	C	3: 64,614,474 (GRCm39)	T447A	probably benign	Het
Wdr86	T	C	5: 24,920,538 (GRCm39)	Y283C	probably benign	Het
Zfp329	A	T	7: 12,544,215 (GRCm39)	Y436*	probably null	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
R9408:Eya4	UTSW	10	22,999,805 (GRCm39)	missense
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'- GGCATTTCACTAGCTGAGAGTTC -3'
(R):5'- TCAATCTGTGCCAGCAGAAGC -3'

Sequencing Primer
(F):5'- CACTAGCTGAGAGTTCTTGTAAAAC -3'
(R):5'- CAGAAGCTATTTACTACGAGAAAGC -3'

Posted On

2022-07-18