Mutagenetix > Incidental Mutations

Incidental Mutation 'R2131:Eya1'

228002

Institutional Source

Beutler Lab

Gene Symbol

Eya1

Ensembl Gene

ENSMUSG00000025932

Gene Name

EYA transcriptional coactivator and phosphatase 1

Synonyms

bor

MMRRC Submission

040134-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.830) question?

Stock #

R2131 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

14168954-14310235 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 14170974 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 573 (V573A)

Ref Sequence

ENSEMBL: ENSMUSP00000141112 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000027066
AA Change: V573A

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000027066
Gene: ENSMUSG00000025932
AA Change: V573A

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
AA Change: V540A

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000079493
Gene: ENSMUSG00000025932
AA Change: V540A

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
AA Change: V569A

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000126383
Gene: ENSMUSG00000025932
AA Change: V569A

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: ENSMUST00000190337
AA Change: V573A

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000141112
Gene: ENSMUSG00000025932
AA Change: V573A

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

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

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 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: 123 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	T	A	13: 63,210,149	C656S	probably benign	Het
4931408C20Rik	T	C	1: 26,685,854	R82G	probably benign	Het
9030624J02Rik	T	C	7: 118,794,575	Y516H	probably damaging	Het
A2ml1	T	A	6: 128,576,260	N178I	probably damaging	Het
Acvr2b	A	G	9: 119,432,808	R437G	probably damaging	Het
Adamtsl3	C	A	7: 82,578,594	A1329E	probably damaging	Het
Adgrl2	T	C	3: 148,890,488	I71V	probably damaging	Het
Adra1a	A	T	14: 66,727,532	I324F	possibly damaging	Het
Akap13	G	T	7: 75,611,434	A1269S	probably benign	Het
Ampd1	G	T	3: 103,094,878		probably null	Het
Ankrd16	T	A	2: 11,783,695	D211E	probably damaging	Het
Aox3	A	G	1: 58,169,843	H845R	probably damaging	Het
Apc	C	A	18: 34,312,045	Q665K	possibly damaging	Het
Arap2	T	C	5: 62,677,958	N747S	probably damaging	Het
Arsk	A	T	13: 76,091,812	C47*	probably null	Het
Atp8b5	T	A	4: 43,370,726	F1001I	probably benign	Het
Bap1	T	A	14: 31,258,331	Y645*	probably null	Het
Brca2	A	G	5: 150,557,129	Y2760C	probably damaging	Het
Cad	T	A	5: 31,058,072	F76I	probably damaging	Het
Capn9	G	A	8: 124,605,711	G430R	possibly damaging	Het
Ccdc27	TTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTC	4: 154,036,306		probably benign	Het
Cdkn2c	A	C	4: 109,665,063	N28K	probably null	Het
Celsr1	T	A	15: 85,963,223	I1438F	probably benign	Het
Cfhr2	T	G	1: 139,831,155	R52S	probably benign	Het
Cldn1	G	C	16: 26,371,550	A26G	probably damaging	Het
Col20a1	T	A	2: 180,992,573	F110L	probably damaging	Het
Creg2	T	C	1: 39,624,978	N204S	probably benign	Het
Cx3cl1	C	A	8: 94,779,573	Q69K	probably benign	Het
Cyfip2	T	C	11: 46,286,131	E74G	possibly damaging	Het
Cyp2g1	A	T	7: 26,820,710	I456F	probably damaging	Het
Dapk1	A	G	13: 60,729,531	E528G	possibly damaging	Het
Dapk1	T	A	13: 60,761,667	W1365R	possibly damaging	Het
Dbt	T	A	3: 116,539,124	D16E	probably damaging	Het
Depdc5	T	A	5: 32,990,781	L1469*	probably null	Het
Dnah3	T	A	7: 119,967,759	T2415S	possibly damaging	Het
Dnmbp	A	G	19: 43,854,311	L1210S	probably damaging	Het
Dpyd	T	C	3: 118,674,568	V77A	probably benign	Het
Eps15l1	A	T	8: 72,386,868	V260D	probably benign	Het
Fam171b	T	A	2: 83,879,858	S625T	probably damaging	Het
Fam186a	T	C	15: 99,933,676		probably benign	Het
Fam208a	A	G	14: 27,476,614	N1301S	possibly damaging	Het
Gabra4	G	T	5: 71,641,224	D137E	probably benign	Het
Gatsl2	G	A	5: 134,136,153	C187Y	probably damaging	Het
Gemin4	G	C	11: 76,211,050	P962A	probably damaging	Het
Gm43302	T	C	5: 105,274,744	D474G	probably damaging	Het
Golim4	A	T	3: 75,908,149	V116D	probably damaging	Het
Gpr19	T	C	6: 134,870,442	M1V	probably null	Het
Hnf4a	T	A	2: 163,547,418	N29K	probably benign	Het
Htt	A	G	5: 34,877,109	R1975G	possibly damaging	Het
Ift20	G	A	11: 78,540,034	E68K	probably damaging	Het
Il4i1	G	A	7: 44,840,070	V420M	probably damaging	Het
Insrr	G	A	3: 87,810,572		probably null	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,386,268		probably benign	Het
Ipo9	A	G	1: 135,402,250	V484A	probably benign	Het
Jmjd4	A	T	11: 59,454,955	H287L	probably damaging	Het
Kcnj13	A	G	1: 87,386,534	V322A	probably benign	Het
Kdm5d	T	C	Y: 941,483	L1228P	probably benign	Het
Klra3	A	G	6: 130,335,775	S9P	probably benign	Het
Ldhd	C	T	8: 111,628,537		probably null	Het
Lmo2	T	C	2: 103,981,062	Y147H	probably damaging	Het
Lmo7	A	T	14: 101,900,238	D670V	probably damaging	Het
Lmtk2	C	T	5: 144,174,988	T842I	possibly damaging	Het
Lrp5	T	C	19: 3,622,708	T534A	possibly damaging	Het
Lrrc24	A	T	15: 76,715,581	F453I	possibly damaging	Het
Magel2	A	T	7: 62,377,738	H130L	unknown	Het
Mcpt8	T	C	14: 56,082,283	I237V	probably damaging	Het
Med4	A	G	14: 73,517,996	N248S	possibly damaging	Het
Mest	C	T	6: 30,745,885	L269F	probably damaging	Het
Mib2	C	T	4: 155,655,238		probably null	Het
Mki67	T	A	7: 135,704,241		probably null	Het
Mnx1	T	A	5: 29,474,189	S299C	unknown	Het
Nbr1	T	A	11: 101,566,191		probably null	Het
Ncapd3	T	G	9: 27,083,346	V1174G	probably damaging	Het
Nyap1	A	C	5: 137,733,681		probably null	Het
Olfml3	T	A	3: 103,735,869	M399L	probably benign	Het
Olfr341	A	G	2: 36,480,047	S28P	possibly damaging	Het
Olfr775	T	C	10: 129,251,074	F180S	probably benign	Het
Oosp1	T	C	19: 11,690,950	D23G	probably damaging	Het
Optc	A	T	1: 133,903,796		probably null	Het
Osbpl6	T	A	2: 76,586,214	I546K	probably damaging	Het
Otog	A	T	7: 46,250,100	N275I	probably damaging	Het
Pcdhb14	C	A	18: 37,447,870	Q10K	probably benign	Het
Pcx	T	C	19: 4,602,551	F189L	probably benign	Het
Pde6b	A	G	5: 108,428,203	D718G	probably damaging	Het
Pklr	C	A	3: 89,142,660	P314Q	probably damaging	Het
Plcb1	T	A	2: 135,325,667	Y460*	probably null	Het
Plekha6	C	A	1: 133,279,365		probably null	Het
Plekho1	A	G	3: 95,989,117	S347P	probably damaging	Het
Plxna2	G	A	1: 194,644,750	D331N	probably benign	Het
Prelp	C	T	1: 133,915,131	R92K	probably benign	Het
Prkra	A	T	2: 76,647,136	I75K	probably damaging	Het
Ptpn11	G	A	5: 121,172,026	A31V	probably damaging	Het
Pzp	T	C	6: 128,491,161		probably null	Het
Rbm12	A	T	2: 156,095,510	C947*	probably null	Het
Ren1	C	G	1: 133,350,778		probably null	Het
Sarm1	A	T	11: 78,475,307	C649S	probably benign	Het
Sept12	T	A	16: 4,991,779	Q223L	probably damaging	Het
Sept4	A	T	11: 87,583,436	Q60L	probably benign	Het
Slc22a21	A	T	11: 53,979,733	L42Q	probably damaging	Het
Slc44a1	GCCC	GCCCCCCC	4: 53,563,246		probably null	Het
Slc9a4	T	G	1: 40,607,741		probably null	Het
Sort1	T	A	3: 108,351,686	F678Y	probably benign	Het
Spag6	T	A	2: 18,733,097	C259*	probably null	Het
Stard13	T	C	5: 151,045,168	Y879C	probably damaging	Het
Stk24	A	T	14: 121,302,211	I191N	probably damaging	Het
Tacc1	A	T	8: 25,164,493	N271K	probably damaging	Het
Tacc2	T	A	7: 130,621,857	S91T	possibly damaging	Het
Tacr3	T	C	3: 134,932,180	V366A	probably benign	Het
Tbccd1	A	G	16: 22,841,989	S26P	probably benign	Het
Tecpr1	T	A	5: 144,208,645	T595S	probably benign	Het
Tjp3	T	A	10: 81,278,054	M457L	possibly damaging	Het
Tor1aip2	A	G	1: 156,065,349	Y467C	probably damaging	Het
Trove2	T	C	1: 143,760,034	D458G	probably benign	Het
Ttc9b	T	A	7: 27,654,349		probably null	Het
Tti1	T	C	2: 158,000,743	R789G	probably benign	Het
Ttn	A	T	2: 76,832,217		probably null	Het
Txk	T	A	5: 72,696,579	T472S	probably damaging	Het
Ube2cbp	A	T	9: 86,372,487		probably null	Het
Vav2	C	A	2: 27,299,396	R176L	possibly damaging	Het
Wdr27	T	A	17: 14,928,332	D133V	probably damaging	Het
Zc3h7a	A	T	16: 11,150,605	Y503*	probably null	Het
Zdhhc13	T	A	7: 48,824,644	L548Q	possibly damaging	Het
Zfp467	A	C	6: 48,442,661	S38A	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- TCTGAAGAATACACATGGTCCTCC -3'
(R):5'- AGAGAAATGGCACTCCCCTC -3'

Sequencing Primer
(F):5'- GTCCTCCATTAACCCCGAGG -3'
(R):5'- CCTCACACAGTATTTCTTGGAGGGAG -3'

Posted On

2014-09-17