Mutagenetix > Incidental Mutation

Incidental Mutation 'R9332:Eya4'

706936

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 #

R9332 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

22978862-23226684 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 22989845 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 504 (T504K)

Ref Sequence

ENSEMBL: ENSMUSP00000090335 (fasta)

Gene Model

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

AlphaFold

Q9Z191

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074366
AA Change: T504K

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000073970
Gene: ENSMUSG00000010461
AA Change: T504K

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 damaging
Transcript: ENSMUST00000092665
AA Change: T504K

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000090335
Gene: ENSMUSG00000010461
AA Change: T504K

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 damaging
Transcript: ENSMUST00000219315
AA Change: T527K

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000220299
AA Change: T504K

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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
Ankrd55	T	G	13: 112,459,677 (GRCm39)	D90E	probably damaging	Het
Arid1b	C	A	17: 5,045,584 (GRCm39)	P124Q	unknown	Het
Atxn2	C	T	5: 121,923,425 (GRCm39)	P698L	probably damaging	Het
Bend7	T	C	2: 4,757,531 (GRCm39)	V191A	probably benign	Het
Bltp1	G	A	3: 37,104,989 (GRCm39)	D1485N		Het
C2cd4a	T	G	9: 67,738,779 (GRCm39)	H88P	probably damaging	Het
Cacna1s	C	T	1: 136,020,452 (GRCm39)	Q830*	probably null	Het
Camta1	T	C	4: 151,228,474 (GRCm39)	E786G	possibly damaging	Het
Caprin1	A	G	2: 103,603,390 (GRCm39)	S443P	probably benign	Het
Cass4	T	G	2: 172,269,806 (GRCm39)	F629L	probably benign	Het
Ccdc149	T	A	5: 52,562,399 (GRCm39)	D209V	probably damaging	Het
Ccdc150	T	C	1: 54,316,910 (GRCm39)	V263A	probably damaging	Het
Cfc1	C	T	1: 34,576,453 (GRCm39)	R145C	probably damaging	Het
Cnn1	C	A	9: 22,019,350 (GRCm39)	D239E	probably damaging	Het
Cobll1	C	T	2: 64,933,516 (GRCm39)	S493N	probably benign	Het
Cox20	A	T	1: 178,146,771 (GRCm39)	K13*	probably null	Het
Dclk1	G	A	3: 55,370,500 (GRCm39)	S340N	probably damaging	Het
Dennd2c	T	A	3: 103,038,877 (GRCm39)	D8E	probably benign	Het
Dnajc10	A	T	2: 80,175,327 (GRCm39)	K571N	probably benign	Het
Dock7	T	A	4: 98,896,280 (GRCm39)	I58F		Het
Dpy19l4	A	G	4: 11,304,298 (GRCm39)		probably null	Het
Eef2k	A	G	7: 120,483,918 (GRCm39)	D218G	probably benign	Het
Fam222a	T	C	5: 114,749,398 (GRCm39)	I198T	probably damaging	Het
Fbxw10	T	A	11: 62,748,585 (GRCm39)	F404Y	probably benign	Het
Fbxw24	A	T	9: 109,452,681 (GRCm39)	Y105N	probably damaging	Het
Fzd10	T	G	5: 128,678,316 (GRCm39)	L12R	possibly damaging	Het
Gm14443	A	G	2: 175,017,610 (GRCm39)		probably benign	Het
Gm21028	A	T	7: 42,227,904 (GRCm39)	C37S	probably damaging	Het
Gpr179	G	T	11: 97,229,551 (GRCm39)	A868E	probably damaging	Het
Greb1l	T	A	18: 10,532,796 (GRCm39)	Y897N	possibly damaging	Het
Grid1	A	T	14: 35,045,360 (GRCm39)	Y401F	probably benign	Het
Heatr5a	G	A	12: 51,946,068 (GRCm39)	T1181I	probably benign	Het
Herc4	G	A	10: 63,144,125 (GRCm39)	V753I	probably damaging	Het
Htra1	A	T	7: 130,563,851 (GRCm39)	K241*	probably null	Het
Kat6b	A	G	14: 21,720,093 (GRCm39)	I1482V	probably benign	Het
Kif19a	G	T	11: 114,680,033 (GRCm39)	R790L	possibly damaging	Het
Lmf2	G	A	15: 89,239,577 (GRCm39)	L26F	probably damaging	Het
Lpcat1	T	C	13: 73,659,462 (GRCm39)	L408S	probably damaging	Het
Lrrc69	T	A	4: 14,774,987 (GRCm39)	R94W	probably damaging	Het
Map4	A	G	9: 109,864,223 (GRCm39)	T483A	probably benign	Het
Mettl3	C	A	14: 52,534,125 (GRCm39)	C483F	probably damaging	Het
Myh13	A	G	11: 67,254,109 (GRCm39)	D1543G	possibly damaging	Het
Myh2	G	A	11: 67,070,209 (GRCm39)	V414I	probably damaging	Het
Myh7b	C	T	2: 155,470,722 (GRCm39)	R1057C	probably damaging	Het
Myo9b	A	G	8: 71,812,246 (GRCm39)	S2006G	probably benign	Het
Nelfcd	A	G	2: 174,264,978 (GRCm39)	K239R	probably benign	Het
Nlrp4a	T	C	7: 26,159,077 (GRCm39)	S786P	probably damaging	Het
Or5g23	T	A	2: 85,438,331 (GRCm39)	K308*	probably null	Het
Or6c205	A	G	10: 129,086,972 (GRCm39)	T190A	probably damaging	Het
Pdzrn4	G	T	15: 92,295,216 (GRCm39)	V141L	probably benign	Het
Phip	G	T	9: 82,757,412 (GRCm39)	R1587S	probably damaging	Het
Plce1	A	G	19: 38,726,377 (GRCm39)	E1448G	probably damaging	Het
Plrg1	T	C	3: 82,976,308 (GRCm39)	S326P	possibly damaging	Het
Pom121l2	T	A	13: 22,165,852 (GRCm39)	V41E	probably damaging	Het
Pramel17	C	T	4: 101,695,144 (GRCm39)	V56M	probably damaging	Het
Preb	G	T	5: 31,113,673 (GRCm39)	S311*	probably null	Het
Prss33	T	A	17: 24,053,723 (GRCm39)	D118V	probably damaging	Het
Pum1	C	A	4: 130,499,209 (GRCm39)	Y1008*	probably null	Het
Rassf2	G	A	2: 131,846,326 (GRCm39)	R144C	probably damaging	Het
Rnf123	A	T	9: 107,944,704 (GRCm39)	M429K	probably benign	Het
Rtl1	T	A	12: 109,557,291 (GRCm39)	H1516L	probably benign	Het
Scyl3	T	A	1: 163,764,007 (GRCm39)	N124K	probably damaging	Het
Sec24b	A	G	3: 129,801,220 (GRCm39)	S488P	probably benign	Het
Shc4	T	A	2: 125,520,618 (GRCm39)	D277V	probably damaging	Het
Sorl1	T	A	9: 41,912,814 (GRCm39)	D1389V	probably damaging	Het
Srcap	T	A	7: 127,158,812 (GRCm39)	I2896N	unknown	Het
Steap3	T	A	1: 120,155,564 (GRCm39)	Y465F	probably benign	Het
Tecta	C	A	9: 42,284,193 (GRCm39)	C964F	probably damaging	Het
Thap1	AGCAGCATCTGCTCG	AG	8: 26,650,882 (GRCm39)		probably null	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,650,884 (GRCm39)		probably null	Het
Tmem178b	G	A	6: 39,981,181 (GRCm39)	W72*	probably null	Het
Tmem235	T	G	11: 117,751,665 (GRCm39)	Y30D	probably damaging	Het
Tpst1	C	A	5: 130,163,301 (GRCm39)	T366K	probably benign	Het
Trdv2-1	C	A	14: 54,183,848 (GRCm39)	P27T	probably benign	Het
Trim37	G	T	11: 87,058,328 (GRCm39)	L335F	possibly damaging	Het
Usp9y	G	A	Y: 1,341,873 (GRCm39)	R1331W	probably damaging	Het
Vmn1r1	T	G	1: 181,985,002 (GRCm39)	H221P	probably damaging	Het
Vmn2r6	A	T	3: 64,454,671 (GRCm39)	S543T	probably benign	Het
Wdpcp	C	T	11: 21,661,522 (GRCm39)	P265S	probably benign	Het
Wdr64	T	C	1: 175,599,871 (GRCm39)	L566P	possibly damaging	Het
Zfp248	A	G	6: 118,405,891 (GRCm39)	I566T	possibly damaging	Het
Zfp595	T	A	13: 67,465,463 (GRCm39)	I270F	probably damaging	Het
Zfp715	A	G	7: 42,948,847 (GRCm39)	L371P	probably 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
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'- GGTTAATCTTATGCACCAGCC -3'
(R):5'- GACCAATCACTTCTGAAAGGATG -3'

Sequencing Primer
(F):5'- GTTAATCTTATGCACCAGCCATCGC -3'
(R):5'- TGTCTGTACCTTTTTATGACAAAACC -3'

Posted On

2022-04-18