Mutagenetix > Incidental Mutations

Incidental Mutation 'R3413:Eya1'

267786

Institutional Source

Beutler Lab

Gene Symbol

Eya1

Ensembl Gene

ENSMUSG00000025932

Gene Name

EYA transcriptional coactivator and phosphatase 1

Synonyms

bor

MMRRC Submission

040631-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.892) question?

Stock #

R3413 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

14168954-14310235 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 14274209 bp

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]

Predicted Effect

probably null
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 null
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 null
Transcript: ENSMUST00000168081
AA Change: R92*

SMART Domains

Protein: ENSMUSP00000126383
Gene: ENSMUSG00000025932
AA Change: R92*

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 null
Transcript: ENSMUST00000185453
AA Change: R92*

SMART Domains

Protein: ENSMUSP00000141072
Gene: ENSMUSG00000025932
AA Change: R92*

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 null
Transcript: ENSMUST00000188857
AA Change: R59*

SMART Domains

Protein: ENSMUSP00000140171
Gene: ENSMUSG00000025932
AA Change: R59*

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

Predicted Effect

probably null
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

Meta Mutation Damage Score

0.9716

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

98% (48/49)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd13	T	C	8: 9,987,387		probably benign	Het
Ap2a2	T	A	7: 141,598,776	N105K	probably benign	Het
Axin1	A	G	17: 26,188,038	H535R	probably damaging	Het
Ccnb3	T	A	X: 7,007,801	E846D	probably benign	Het
Cdca7	G	A	2: 72,485,287	G365R	probably damaging	Het
Clvs2	T	A	10: 33,622,971		probably benign	Het
Coq10a	A	G	10: 128,365,129	V93A	possibly damaging	Het
Ddx42	A	G	11: 106,247,810	T812A	probably benign	Het
Fcna	G	C	2: 25,627,493	P49A	probably damaging	Het
Gckr	T	A	5: 31,300,867		probably null	Het
Golgb1	A	G	16: 36,887,347	K68E	probably damaging	Het
Got1l1	A	G	8: 27,199,836		probably null	Het
Hip1	T	C	5: 135,422,172	E451G	probably damaging	Het
Hs6st2	C	T	X: 51,681,455	V50I	possibly damaging	Het
Ighv1-23	C	T	12: 114,764,467	V112I	probably benign	Het
Map1s	A	G	8: 70,912,519	N107D	probably damaging	Het
Mmel1	T	A	4: 154,889,586	V361D	probably damaging	Het
Myh15	A	G	16: 49,138,732	D989G	probably benign	Het
Myo1g	G	T	11: 6,517,870	H188Q	possibly damaging	Het
Nup210	G	T	6: 91,025,242	Q755K	probably benign	Het
Olfr114	A	G	17: 37,589,696	V219A	probably benign	Het
Olfr638	A	G	7: 104,003,832	M186V	probably damaging	Het
Pih1h3b	T	A	X: 140,106,021	N216K	possibly damaging	Het
Plcz1	C	T	6: 140,002,081	R525Q	probably damaging	Het
Ppef2	T	G	5: 92,228,722	S649R	probably damaging	Het
Rusc2	T	G	4: 43,415,935	S414A	probably damaging	Het
Sez6l	A	G	5: 112,475,361	L108P	possibly damaging	Het
Slc1a7	A	G	4: 108,010,994	E497G	probably benign	Het
Spag8	T	A	4: 43,651,606	S423C	probably damaging	Het
Sspo	C	T	6: 48,480,697	R3178C	probably damaging	Het
St6galnac1	A	G	11: 116,765,856	W486R	probably damaging	Het
Syk	A	G	13: 52,631,739	D327G	probably benign	Het
Tbc1d8b	C	T	X: 139,713,391	A391V	probably benign	Het
Tmed9	A	G	13: 55,595,574	E173G	probably benign	Het
Top1mt	T	C	15: 75,657,176	N573S	probably benign	Het
Tusc1	C	A	4: 93,334,936	R162L	probably damaging	Het
Ubn2	A	G	6: 38,498,739	T1211A	probably benign	Het
Unc80	G	A	1: 66,639,305	V2082I	probably benign	Het
Vmn2r63	A	G	7: 42,926,982	F469S	probably benign	Het
Zfp92	C	T	X: 73,420,294		probably benign	Het
Zfyve28	C	T	5: 34,199,684	M723I	probably benign	Het
Zmynd8	A	T	2: 165,815,451	M533K	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
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
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	intron	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

Predicted Primers

PCR Primer
(F):5'- CGGCCCACCAGAATATATCATG -3'
(R):5'- AAGTCATGTCTTTGCCCATGTTAC -3'

Sequencing Primer
(F):5'- TGAGAATAATGGTCCAGTGACTCACC -3'
(R):5'- TAAGTAGAAGTGAATTTTGTAGAGGC -3'

Posted On

2015-02-18