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

23102963-23350786 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 23123851 bp (GRCm38)

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
4932415D10Rik	A	G	10: 82,292,013	L1721S	possibly damaging	Het
Abca17	T	A	17: 24,291,555	Q983L	probably benign	Het
Agtr1a	A	T	13: 30,380,979	D9V	probably benign	Het
Ankrd13c	T	A	3: 157,991,737	Y326*	probably null	Het
Ano2	A	G	6: 125,710,733	D67G	probably benign	Het
Arhgef5	G	A	6: 43,279,573	R1205H	probably damaging	Het
Ascc3	T	A	10: 50,714,352	Y1055*	probably null	Het
Atad5	C	T	11: 80,133,036	A1658V	probably benign	Het
Atp6ap1l	T	C	13: 90,883,807	D252G	probably damaging	Het
BC067074	A	G	13: 113,319,967	D849G		Het
Bdkrb2	T	C	12: 105,592,541	V347A	possibly damaging	Het
Ccdc187	A	T	2: 26,255,995	L1194Q	probably damaging	Het
Chd9	A	C	8: 90,983,487	D770A	unknown	Het
Chd9	A	G	8: 91,034,218	D2197G	unknown	Het
Clip2	C	A	5: 134,502,630	E774*	probably null	Het
Clspn	A	G	4: 126,566,200	T407A	probably benign	Het
Col24a1	T	A	3: 145,293,165		probably null	Het
Cradd	T	A	10: 95,322,775	T37S	probably damaging	Het
Ctbp2	A	G	7: 132,998,881	F70S	probably damaging	Het
D3Ertd751e	A	T	3: 41,746,565	E6D	probably damaging	Het
Dst	T	A	1: 34,191,673	F2782L	probably benign	Het
Dync2h1	A	G	9: 7,159,479		probably null	Het
Eif2s1	G	T	12: 78,881,195	G215V	probably damaging	Het
Epg5	A	T	18: 77,959,037	D557V	possibly damaging	Het
Fam192a	T	C	8: 94,575,699	N235D	possibly damaging	Het
Fpr1	C	A	17: 17,876,980	R249L	probably damaging	Het
Fry	A	G	5: 150,416,323	T1520A	probably benign	Het
Gapvd1	C	T	2: 34,690,461		probably null	Het
Gemin4	A	C	11: 76,213,452	L161*	probably null	Het
Gid8	A	T	2: 180,717,986	K221I	probably benign	Het
Gm21028	A	C	7: 42,578,489	C34G	probably damaging	Het
Gm4737	T	C	16: 46,153,838	E392G	probably damaging	Het
Greb1	A	G	12: 16,724,881	S172P	probably damaging	Het
Herc2	A	G	7: 56,182,675	I3040V	possibly damaging	Het
Hmcn2	T	A	2: 31,416,812	V3190E	probably damaging	Het
Hrnr	G	T	3: 93,323,141	G229*	probably null	Het
Igfn1	A	T	1: 135,964,000	V2259D	probably damaging	Het
Ism2	A	G	12: 87,280,040	F375S	probably damaging	Het
Kcnk4	T	A	19: 6,926,110	D357V	probably damaging	Het
Knl1	A	G	2: 119,070,559	R914G	possibly damaging	Het
Mars2	T	C	1: 55,237,570	S111P	probably damaging	Het
Mogat2	G	A	7: 99,232,466	P88S	possibly damaging	Het
Msh2	T	A	17: 87,717,529	S612T	possibly damaging	Het
Nvl	A	G	1: 181,135,036	L123P	probably damaging	Het
Olfr1029	T	A	2: 85,975,436	S64R	possibly damaging	Het
Olfr352	T	C	2: 36,869,878	V104A	probably benign	Het
Olfr621-ps1	A	G	7: 103,629,183	L259P	unknown	Het
Olfr709-ps1	A	T	7: 106,926,904	L185Q	probably damaging	Het
Olfr771	T	A	10: 129,160,070	I305F	probably benign	Het
Olfr868	A	T	9: 20,100,873	Y38F	probably damaging	Het
P2rx7	A	T	5: 122,666,142		probably null	Het
Pard3	A	T	8: 127,593,092	I1149L	probably damaging	Het
Pcdha8	T	A	18: 36,992,777	I104N	probably damaging	Het
Pecr	G	A	1: 72,267,465	T219I	probably benign	Het
Pgap2	A	T	7: 102,210,567		probably benign	Het
Phf7	T	C	14: 31,241,788	R76G	probably benign	Het
Pigu	T	C	2: 155,299,170	T268A	probably damaging	Het
Piwil4	T	C	9: 14,729,993	T231A	possibly damaging	Het
Pkd1l1	T	G	11: 8,945,202	E636A		Het
Plscr3	T	C	11: 69,847,490	S55P	unknown	Het
Pnlip	T	A	19: 58,676,544	I268N	probably damaging	Het
Podxl	A	T	6: 31,524,994	H343Q	probably benign	Het
Prkcd	T	C	14: 30,605,836	T213A	probably benign	Het
Prss22	T	A	17: 23,996,445	Q119L	probably benign	Het
Ptprcap	A	G	19: 4,156,239	E107G	possibly damaging	Het
Ptprg	A	G	14: 12,154,198	T640A	possibly damaging	Het
Ptprh	A	T	7: 4,551,007		probably null	Het
Rasa4	A	G	5: 136,095,594	T166A	probably benign	Het
Sbf2	T	C	7: 110,399,348	E626G	possibly damaging	Het
Scn2a	T	A	2: 65,682,506	Y203*	probably null	Het
Serpinb1a	G	C	13: 32,842,998	H320Q	probably damaging	Het
Shisa7	G	A	7: 4,829,921	T464I	probably benign	Het
Slc47a2	G	A	11: 61,308,873	A399V	possibly damaging	Het
Smim4	A	G	14: 31,124,603	V53A	probably damaging	Het
Snrnp200	A	G	2: 127,221,826	T642A	probably benign	Het
Spag16	A	G	1: 69,844,367	H85R	probably benign	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638		probably benign	Het
Stag3	C	A	5: 138,301,508	L894M	probably damaging	Het
Sun2	A	T	15: 79,734,112	F284Y	probably benign	Het
Tpx2	T	A	2: 152,876,630	N184K	probably benign	Het
Trpa1	A	T	1: 14,898,110	N477K	probably damaging	Het
Ttbk2	C	T	2: 120,790,310	R157H	probably damaging	Het
Ttn	C	T	2: 76,707,305	E34760K	probably benign	Het
Tysnd1	T	C	10: 61,696,648	S360P	probably damaging	Het
Usp34	T	A	11: 23,361,683	L511I	probably damaging	Het
Vmn2r71	A	T	7: 85,624,260	T761S	possibly damaging	Het
Zdhhc18	G	T	4: 133,633,171	C73*	probably null	Het
Zfp975	A	T	7: 42,662,791	C133S	probably damaging	Het
Zfy1	T	C	Y: 735,141	E214G	unknown	Het
Zmym5	T	A	14: 56,794,140	K504*	probably null	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
R0420:Eya4	UTSW	10	23155963	missense	possibly damaging	0.85
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
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
R8550:Eya4	UTSW	10	23106258	missense	probably damaging	1.00
R8553:Eya4	UTSW	10	23106258	missense	probably damaging	1.00
R8556:Eya4	UTSW	10	23106258	missense	probably damaging	1.00
R8703:Eya4	UTSW	10	23163442	missense	probably benign	0.00
R9332:Eya4	UTSW	10	23113946	missense	probably damaging	0.97
R9361:Eya4	UTSW	10	23109867	missense	probably damaging	1.00
R9408:Eya4	UTSW	10	23123907	missense
R9497:Eya4	UTSW	10	23111559	critical splice donor site	probably null
R9713:Eya4	UTSW	10	23151972	nonsense	probably null
Z1088:Eya4	UTSW	10	23113988	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