Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00978:Eya1'

306640

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Eya1

Ensembl Gene

ENSMUSG00000025932

Gene Name

EYA transcriptional coactivator and phosphatase 1

Synonyms

bor

Accession Numbers

Essential gene?

Probably essential (E-score: 0.868) question?

Stock #

IGL00978

Quality Score

Status

Chromosome

Chromosomal Location

14168954-14310235 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 14270701 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141112 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027066] [ENSMUST00000080664] [ENSMUST00000168081] [ENSMUST00000185453] [ENSMUST00000187790] [ENSMUST00000188857] [ENSMUST00000190337]

AlphaFold

P97767

Predicted Effect

probably benign
Transcript: ENSMUST00000027066

SMART Domains

Protein: ENSMUSP00000027066
Gene: ENSMUSG00000025932

Domain	Start	End	E-Value	Type
low complexity region	8	23	N/A	INTRINSIC
low complexity region	56	75	N/A	INTRINSIC
low complexity region	240	252	N/A	INTRINSIC
low complexity region	295	319	N/A	INTRINSIC
PDB:3HB1\|D	320	591	1e-172	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000080664

SMART Domains

Protein: ENSMUSP00000079493
Gene: ENSMUSG00000025932

Domain	Start	End	E-Value	Type
low complexity region	22	41	N/A	INTRINSIC
low complexity region	201	213	N/A	INTRINSIC
low complexity region	256	280	N/A	INTRINSIC
PDB:3HB1\|D	281	552	1e-173	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000168081

SMART Domains

Protein: ENSMUSP00000126383
Gene: ENSMUSG00000025932

Domain	Start	End	E-Value	Type
low complexity region	23	42	N/A	INTRINSIC
low complexity region	207	219	N/A	INTRINSIC
low complexity region	262	286	N/A	INTRINSIC
PDB:3HB1\|D	287	558	1e-172	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000185453

SMART Domains

Protein: ENSMUSP00000141072
Gene: ENSMUSG00000025932

Domain	Start	End	E-Value	Type
low complexity region	8	23	N/A	INTRINSIC
low complexity region	56	75	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000187790

SMART Domains

Protein: ENSMUSP00000139542
Gene: ENSMUSG00000025932

Domain	Start	End	E-Value	Type
low complexity region	8	23	N/A	INTRINSIC
low complexity region	56	75	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000188857

SMART Domains

Protein: ENSMUSP00000140171
Gene: ENSMUSG00000025932

Domain	Start	End	E-Value	Type
low complexity region	23	42	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000190337

SMART Domains

Protein: ENSMUSP00000141112
Gene: ENSMUSG00000025932

Domain	Start	End	E-Value	Type
low complexity region	8	23	N/A	INTRINSIC
low complexity region	56	75	N/A	INTRINSIC
low complexity region	240	252	N/A	INTRINSIC
low complexity region	295	319	N/A	INTRINSIC
PDB:3HB1\|D	320	591	1e-172	PDB

Coding Region Coverage

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 play a role in the developing kidney, branchial arches, eye, and ear. Mutations of this gene have been associated with branchiootorenal dysplasia syndrome, branchiootic syndrome, and sporadic cases of congenital cataracts and ocular anterior segment anomalies. A similar protein in mice can act as a transcriptional activator. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2013]
PHENOTYPE: Mutations in this locus affect inner ear morphology and hearing, and result in dysmorphic or absent kidneys. Hypomorphs are deaf and circle. Null homozygotes additionally show agenesis of thymus and parathyroid and thyroid hypoplasia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009L18Rik	T	C	11: 120,350,947		probably benign	Het
Alpk2	A	T	18: 65,291,534		probably benign	Het
Angptl8	T	C	9: 21,837,053		probably benign	Het
AU040320	T	A	4: 126,828,839	D383E	probably benign	Het
Cep97	C	T	16: 55,924,960		probably benign	Het
Clcn4	A	T	7: 7,287,673	L649H	probably damaging	Het
Col5a2	T	C	1: 45,376,739	N1416S	probably benign	Het
Erbb2	C	T	11: 98,435,630	P1027S	probably damaging	Het
Gfm2	T	C	13: 97,162,977	I402T	probably benign	Het
Gmeb2	A	T	2: 181,259,043	V187E	probably benign	Het
Hectd1	T	C	12: 51,791,390	H662R	possibly damaging	Het
Ifne	T	C	4: 88,880,031	Q50R	probably benign	Het
Kidins220	A	G	12: 25,057,474	D1642G	probably damaging	Het
Klhl32	T	A	4: 24,682,245	D146V	probably damaging	Het
Krt36	T	C	11: 100,102,948	I355V	probably damaging	Het
Lrrcc1	T	A	3: 14,536,128	S73R	possibly damaging	Het
Ltbp3	A	T	19: 5,754,019	H853L	probably benign	Het
Map3k5	G	A	10: 20,141,567	R1369Q	probably damaging	Het
Mcm8	A	G	2: 132,821,406	N148S	probably benign	Het
Mylk3	A	T	8: 85,355,526	L211*	probably null	Het
Nras	T	C	3: 103,058,916		probably benign	Het
Olfr135	A	T	17: 38,208,982	I246F	probably damaging	Het
Olfr670	A	T	7: 104,960,716	N5K	probably damaging	Het
Os9	A	T	10: 127,120,509	Y66N	probably damaging	Het
Pitpnm1	A	G	19: 4,101,228	D15G	possibly damaging	Het
Reg3a	A	T	6: 78,382,301	R95*	probably null	Het
Rnf17	C	T	14: 56,512,271	P1425S	probably damaging	Het
Smad2	T	C	18: 76,299,775		probably benign	Het
Ttll5	C	T	12: 85,933,482	Q76*	probably null	Het
Uri1	A	T	7: 37,996,731		probably benign	Het
Vmn2r102	G	T	17: 19,678,923		probably null	Het
Vmn2r70	T	G	7: 85,563,799	M467L	probably benign	Het
Zfp318	T	A	17: 46,413,726	D2218E	possibly damaging	Het
Zfp692	T	C	11: 58,314,029	I405T	possibly damaging	Het
Zfp692	A	G	11: 58,309,998	H235R	possibly damaging	Het

Other mutations in Eya1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01110:Eya1	APN	1	14283130	missense	probably damaging	1.00
IGL02266:Eya1	APN	1	14184501	missense	possibly damaging	0.63
IGL03027:Eya1	APN	1	14170966	missense	probably damaging	1.00
IGL03081:Eya1	APN	1	14183191	missense	possibly damaging	0.76
IGL03291:Eya1	APN	1	14184348	critical splice donor site	probably null
IGL03353:Eya1	APN	1	14179527	missense	probably damaging	1.00
R0042:Eya1	UTSW	1	14184489	missense	probably damaging	0.98
R0042:Eya1	UTSW	1	14184489	missense	probably damaging	0.98
R1428:Eya1	UTSW	1	14304414	splice site	probably benign
R1521:Eya1	UTSW	1	14274550	missense	probably damaging	0.99
R1571:Eya1	UTSW	1	14208917	missense	probably damaging	1.00
R1768:Eya1	UTSW	1	14253075	missense	possibly damaging	0.95
R1785:Eya1	UTSW	1	14170974	missense	probably benign	0.16
R1840:Eya1	UTSW	1	14229504	nonsense	probably null
R2114:Eya1	UTSW	1	14270774	missense	probably damaging	1.00
R2131:Eya1	UTSW	1	14170974	missense	probably benign	0.16
R2212:Eya1	UTSW	1	14274209	critical splice acceptor site	probably null
R2416:Eya1	UTSW	1	14270703	critical splice donor site	probably null
R2424:Eya1	UTSW	1	14270848	splice site	probably benign
R3085:Eya1	UTSW	1	14274090	missense	probably benign	0.01
R3158:Eya1	UTSW	1	14304467	start gained	probably benign
R3412:Eya1	UTSW	1	14274209	critical splice acceptor site	probably null
R3413:Eya1	UTSW	1	14274209	critical splice acceptor site	probably null
R3693:Eya1	UTSW	1	14229501	missense	probably damaging	1.00
R3694:Eya1	UTSW	1	14229501	missense	probably damaging	1.00
R3899:Eya1	UTSW	1	14270747	missense	probably benign	0.04
R4454:Eya1	UTSW	1	14183196	missense	probably damaging	0.98
R4455:Eya1	UTSW	1	14183196	missense	probably damaging	0.98
R4456:Eya1	UTSW	1	14183196	missense	probably damaging	0.98
R4458:Eya1	UTSW	1	14183196	missense	probably damaging	0.98
R4761:Eya1	UTSW	1	14302821	missense	probably damaging	1.00
R5011:Eya1	UTSW	1	14184358	missense	probably damaging	1.00
R5013:Eya1	UTSW	1	14184358	missense	probably damaging	1.00
R5613:Eya1	UTSW	1	14302929	intron	probably benign
R5687:Eya1	UTSW	1	14183252	missense	probably damaging	0.99
R6052:Eya1	UTSW	1	14283150	missense	probably damaging	1.00
R6181:Eya1	UTSW	1	14302872	missense	probably damaging	0.99
R6378:Eya1	UTSW	1	14302803	missense	possibly damaging	0.93
R6805:Eya1	UTSW	1	14183277	missense	probably benign	0.00
R6863:Eya1	UTSW	1	14270975	splice site	probably null
R7032:Eya1	UTSW	1	14283200	critical splice acceptor site	probably null
R7044:Eya1	UTSW	1	14231410	splice site	probably null
R7078:Eya1	UTSW	1	14231412	critical splice donor site	probably null
R7179:Eya1	UTSW	1	14302852	missense	probably damaging	1.00
R7384:Eya1	UTSW	1	14229512	missense	probably damaging	1.00
R7462:Eya1	UTSW	1	14231414	missense	probably null	0.99
R8490:Eya1	UTSW	1	14184675	missense	possibly damaging	0.90
R8527:Eya1	UTSW	1	14252448	missense	probably damaging	1.00
R8724:Eya1	UTSW	1	14208982	missense	probably benign	0.01
R9462:Eya1	UTSW	1	14229551	missense	probably damaging	1.00
R9608:Eya1	UTSW	1	14302805	missense	probably benign	0.10
Z1176:Eya1	UTSW	1	14252430	missense	probably benign
Z1176:Eya1	UTSW	1	14302868	missense	probably damaging	1.00
Z1177:Eya1	UTSW	1	14184429	missense	probably damaging	0.98
Z1177:Eya1	UTSW	1	14253090	missense	possibly damaging	0.68

Posted On

2015-04-16