Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03081:Eya1'

417861

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

Is this an essential gene?

Probably essential (E-score: 0.879) question?

Stock #

IGL03081

Quality Score

Status

Chromosome

Chromosomal Location

14168954-14310235 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 14183191 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 520 (F520L)

Ref Sequence

ENSEMBL: ENSMUSP00000141112 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027066
AA Change: F520L

PolyPhen 2 Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000027066
Gene: ENSMUSG00000025932
AA Change: F520L

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

possibly damaging
Transcript: ENSMUST00000080664
AA Change: F487L

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000079493
Gene: ENSMUSG00000025932
AA Change: F487L

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

possibly damaging
Transcript: ENSMUST00000168081
AA Change: F516L

PolyPhen 2 Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000126383
Gene: ENSMUSG00000025932
AA Change: F516L

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

noncoding transcript
Transcript: ENSMUST00000179783

Predicted Effect

possibly damaging
Transcript: ENSMUST00000190337
AA Change: F520L

PolyPhen 2 Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000141112
Gene: ENSMUSG00000025932
AA Change: F520L

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	C	A	19: 43,782,402		probably benign	Het
Acan	T	G	7: 79,098,543	S1021A	probably benign	Het
Adamts6	A	G	13: 104,444,956		probably benign	Het
Apc2	A	G	10: 80,312,252	K1018E	probably damaging	Het
Arhgef28	A	T	13: 98,029,373		probably benign	Het
Atp2b1	T	C	10: 98,994,813		probably benign	Het
Cct6b	A	T	11: 82,764,169	L20*	probably null	Het
Cd300ld2	G	A	11: 115,012,542		probably benign	Het
Cdc23	T	G	18: 34,636,704	K454T	probably damaging	Het
Cdh20	A	T	1: 104,941,257	I158F	probably damaging	Het
Cdk14	C	T	5: 4,949,527		probably benign	Het
Ces1d	C	A	8: 93,169,718		probably null	Het
Clec2i	A	T	6: 128,894,765	Y113F	probably damaging	Het
Dmpk	T	A	7: 19,087,533	S239T	probably damaging	Het
Dnah8	T	C	17: 30,686,373		probably benign	Het
Exoc2	A	G	13: 30,900,902	Y359H	probably benign	Het
Fgfr1op2	A	T	6: 146,597,319	I217F	probably damaging	Het
Gm12258	A	G	11: 58,858,259	N87D	probably benign	Het
Gp6	A	G	7: 4,371,648	S225P	probably benign	Het
Hdac7	T	C	15: 97,798,306	Y619C	probably damaging	Het
Lars	A	G	18: 42,210,091	I1087T	probably benign	Het
Lrrc37a	G	T	11: 103,456,595	H3091Q	unknown	Het
Mcm3ap	T	C	10: 76,470,316	S88P	possibly damaging	Het
Mrps23	G	A	11: 88,210,217	R117Q	probably benign	Het
Nbea	T	C	3: 56,079,918	S384G	probably damaging	Het
Ndufs4	A	T	13: 114,307,837	I135N	possibly damaging	Het
Noto	T	C	6: 85,424,109	F40S	probably damaging	Het
Nr5a1	A	T	2: 38,710,532	V41D	possibly damaging	Het
Olfr914	C	T	9: 38,606,870	A135V	probably benign	Het
Papola	T	A	12: 105,818,855	H415Q	probably damaging	Het
Pcm1	C	T	8: 41,275,060	T557I	probably damaging	Het
Pde11a	A	T	2: 76,075,930		probably benign	Het
Pls1	A	G	9: 95,773,643	V352A	probably damaging	Het
Pygm	T	C	19: 6,388,821	S226P	possibly damaging	Het
Rnf17	T	A	14: 56,434,371	S273R	probably benign	Het
Scamp2	T	C	9: 57,587,127	V261A	possibly damaging	Het
Slc7a12	T	A	3: 14,481,255	F153L	probably benign	Het
Smchd1	A	T	17: 71,360,191	D1735E	probably damaging	Het
Stk40	A	G	4: 126,123,714		probably null	Het
Tas2r124	C	T	6: 132,755,534	L269F	possibly damaging	Het
Tmem260	A	C	14: 48,496,293	I216L	probably benign	Het
Ubr1	C	A	2: 120,961,156	A116S	possibly damaging	Het
Unc13a	T	C	8: 71,649,549	K991R	probably damaging	Het
Vmn2r66	T	C	7: 85,007,930	Y89C	probably benign	Het
Vps13b	A	C	15: 35,875,820	I2784L	probably damaging	Het
Zbtb26	T	A	2: 37,436,600	K141N	possibly damaging	Het
Zranb1	T	A	7: 132,950,397	M259K	probably damaging	Het

Other mutations in Eya1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00978:Eya1	APN	1	14270701	splice site	probably benign
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
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
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

2016-08-02