Mutagenetix > Incidental Mutation

Incidental Mutation 'R7358:Eya4'

571116

Institutional Source

Beutler Lab

Gene Symbol

Eya4

Ensembl Gene

ENSMUSG00000010461

Gene Name

EYA transcriptional coactivator and phosphatase 4

Synonyms

B130023L16Rik

MMRRC Submission

045444-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7358 (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 22999749 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 null
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 null
Transcript: ENSMUST00000219315

Predicted Effect

probably null
Transcript: ENSMUST00000220299

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	A	17: 24,510,529 (GRCm39)	Q983L	probably benign	Het
Agtr1a	A	T	13: 30,564,962 (GRCm39)	D9V	probably benign	Het
Ahcyl	T	C	16: 45,974,201 (GRCm39)	E392G	probably damaging	Het
Ankrd13c	T	A	3: 157,697,374 (GRCm39)	Y326*	probably null	Het
Ano2	A	G	6: 125,687,696 (GRCm39)	D67G	probably benign	Het
Arhgef5	G	A	6: 43,256,507 (GRCm39)	R1205H	probably damaging	Het
Ascc3	T	A	10: 50,590,448 (GRCm39)	Y1055*	probably null	Het
Atad5	C	T	11: 80,023,862 (GRCm39)	A1658V	probably benign	Het
Atp6ap1l	T	C	13: 91,031,926 (GRCm39)	D252G	probably damaging	Het
Bdkrb2	T	C	12: 105,558,800 (GRCm39)	V347A	possibly damaging	Het
Ccdc187	A	T	2: 26,146,007 (GRCm39)	L1194Q	probably damaging	Het
Chd9	A	C	8: 91,710,115 (GRCm39)	D770A	unknown	Het
Chd9	A	G	8: 91,760,846 (GRCm39)	D2197G	unknown	Het
Clip2	C	A	5: 134,531,484 (GRCm39)	E774*	probably null	Het
Clspn	A	G	4: 126,459,993 (GRCm39)	T407A	probably benign	Het
Col24a1	T	A	3: 144,998,926 (GRCm39)		probably null	Het
Cradd	T	A	10: 95,158,637 (GRCm39)	T37S	probably damaging	Het
Cspg4b	A	G	13: 113,456,501 (GRCm39)	D849G		Het
Ctbp2	A	G	7: 132,600,610 (GRCm39)	F70S	probably damaging	Het
D3Ertd751e	A	T	3: 41,701,000 (GRCm39)	E6D	probably damaging	Het
Dst	T	A	1: 34,230,754 (GRCm39)	F2782L	probably benign	Het
Dync2h1	A	G	9: 7,159,479 (GRCm39)		probably null	Het
Eif2s1	G	T	12: 78,927,969 (GRCm39)	G215V	probably damaging	Het
Epg5	A	T	18: 78,002,252 (GRCm39)	D557V	possibly damaging	Het
Fpr1	C	A	17: 18,097,242 (GRCm39)	R249L	probably damaging	Het
Fry	A	G	5: 150,339,788 (GRCm39)	T1520A	probably benign	Het
Gapvd1	C	T	2: 34,580,473 (GRCm39)		probably null	Het
Gemin4	A	C	11: 76,104,278 (GRCm39)	L161*	probably null	Het
Gid8	A	T	2: 180,359,779 (GRCm39)	K221I	probably benign	Het
Gm21028	A	C	7: 42,227,913 (GRCm39)	C34G	probably damaging	Het
Greb1	A	G	12: 16,774,882 (GRCm39)	S172P	probably damaging	Het
Herc2	A	G	7: 55,832,423 (GRCm39)	I3040V	possibly damaging	Het
Hmcn2	T	A	2: 31,306,824 (GRCm39)	V3190E	probably damaging	Het
Hrnr	G	T	3: 93,230,448 (GRCm39)	G229*	probably null	Het
Igfn1	A	T	1: 135,891,738 (GRCm39)	V2259D	probably damaging	Het
Ism2	A	G	12: 87,326,814 (GRCm39)	F375S	probably damaging	Het
Kcnk4	T	A	19: 6,903,478 (GRCm39)	D357V	probably damaging	Het
Knl1	A	G	2: 118,901,040 (GRCm39)	R914G	possibly damaging	Het
Mars2	T	C	1: 55,276,729 (GRCm39)	S111P	probably damaging	Het
Mogat2	G	A	7: 98,881,673 (GRCm39)	P88S	possibly damaging	Het
Msh2	T	A	17: 88,024,957 (GRCm39)	S612T	possibly damaging	Het
Nvl	A	G	1: 180,962,601 (GRCm39)	L123P	probably damaging	Het
Or1j20	T	C	2: 36,759,890 (GRCm39)	V104A	probably benign	Het
Or2d3c	A	T	7: 106,526,111 (GRCm39)	L185Q	probably damaging	Het
Or51v15-ps1	A	G	7: 103,278,390 (GRCm39)	L259P	unknown	Het
Or5m11b	T	A	2: 85,805,780 (GRCm39)	S64R	possibly damaging	Het
Or6c202	T	A	10: 128,995,939 (GRCm39)	I305F	probably benign	Het
Or7e174	A	T	9: 20,012,169 (GRCm39)	Y38F	probably damaging	Het
P2rx7	A	T	5: 122,804,205 (GRCm39)		probably null	Het
Pard3	A	T	8: 128,319,573 (GRCm39)	I1149L	probably damaging	Het
Pcdha8	T	A	18: 37,125,830 (GRCm39)	I104N	probably damaging	Het
Pecr	G	A	1: 72,306,624 (GRCm39)	T219I	probably benign	Het
Pgap2	A	T	7: 101,859,774 (GRCm39)		probably benign	Het
Phf7	T	C	14: 30,963,745 (GRCm39)	R76G	probably benign	Het
Pigu	T	C	2: 155,141,090 (GRCm39)	T268A	probably damaging	Het
Piwil4	T	C	9: 14,641,289 (GRCm39)	T231A	possibly damaging	Het
Pkd1l1	T	G	11: 8,895,202 (GRCm39)	E636A		Het
Plscr3	T	C	11: 69,738,316 (GRCm39)	S55P	unknown	Het
Pnlip	T	A	19: 58,664,976 (GRCm39)	I268N	probably damaging	Het
Podxl	A	T	6: 31,501,929 (GRCm39)	H343Q	probably benign	Het
Prkcd	T	C	14: 30,327,793 (GRCm39)	T213A	probably benign	Het
Prss22	T	A	17: 24,215,419 (GRCm39)	Q119L	probably benign	Het
Psme3ip1	T	C	8: 95,302,327 (GRCm39)	N235D	possibly damaging	Het
Ptprcap	A	G	19: 4,206,238 (GRCm39)	E107G	possibly damaging	Het
Ptprg	A	G	14: 12,154,198 (GRCm38)	T640A	possibly damaging	Het
Ptprh	A	T	7: 4,554,006 (GRCm39)		probably null	Het
Rasa4	A	G	5: 136,124,448 (GRCm39)	T166A	probably benign	Het
Sbf2	T	C	7: 109,998,555 (GRCm39)	E626G	possibly damaging	Het
Scn2a	T	A	2: 65,512,850 (GRCm39)	Y203*	probably null	Het
Serpinb1a	G	C	13: 33,026,981 (GRCm39)	H320Q	probably damaging	Het
Shisa7	G	A	7: 4,832,920 (GRCm39)	T464I	probably benign	Het
Slc47a2	G	A	11: 61,199,699 (GRCm39)	A399V	possibly damaging	Het
Snrnp200	A	G	2: 127,063,746 (GRCm39)	T642A	probably benign	Het
Spag16	A	G	1: 69,883,526 (GRCm39)	H85R	probably benign	Het
Spata31h1	A	G	10: 82,127,847 (GRCm39)	L1721S	possibly damaging	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638 (GRCm39)		probably benign	Het
Stag3	C	A	5: 138,299,770 (GRCm39)	L894M	probably damaging	Het
Sun2	A	T	15: 79,618,313 (GRCm39)	F284Y	probably benign	Het
Tpx2	T	A	2: 152,718,550 (GRCm39)	N184K	probably benign	Het
Trpa1	A	T	1: 14,968,334 (GRCm39)	N477K	probably damaging	Het
Ttbk2	C	T	2: 120,620,791 (GRCm39)	R157H	probably damaging	Het
Ttn	C	T	2: 76,537,649 (GRCm39)	E34760K	probably benign	Het
Tysnd1	T	C	10: 61,532,427 (GRCm39)	S360P	probably damaging	Het
Uqcc5	A	G	14: 30,846,560 (GRCm39)	V53A	probably damaging	Het
Usp34	T	A	11: 23,311,683 (GRCm39)	L511I	probably damaging	Het
Vmn2r71	A	T	7: 85,273,468 (GRCm39)	T761S	possibly damaging	Het
Zdhhc18	G	T	4: 133,360,482 (GRCm39)	C73*	probably null	Het
Zfp975	A	T	7: 42,312,215 (GRCm39)	C133S	probably damaging	Het
Zfy1	T	C	Y: 735,141 (GRCm39)	E214G	unknown	Het
Zmym5	T	A	14: 57,031,597 (GRCm39)	K504*	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
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'- TGGAGGCCAATGTCTTCTAAG -3'
(R):5'- GCCTTCTCCAACAATATCTACCGAG -3'

Sequencing Primer
(F):5'- CTCAAGAGCAGGAGTTTGCAGTC -3'
(R):5'- TTTCCAGGATCCCCCAAT -3'

Posted On

2019-09-13