Mutagenetix > Incidental Mutation

Incidental Mutation 'R6805:Eya1'

533508

Institutional Source

Beutler Lab

Gene Symbol

Eya1

Ensembl Gene

ENSMUSG00000025932

Gene Name

EYA transcriptional coactivator and phosphatase 1

Synonyms

bor

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.799) question?

Stock #

R6805 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

14168954-14310235 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 14183277 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 459 (T459S)

Ref Sequence

ENSEMBL: ENSMUSP00000079493 (fasta)

Gene Model

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

AlphaFold

P97767

Predicted Effect

probably benign
Transcript: ENSMUST00000027066
AA Change: T492S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000027066
Gene: ENSMUSG00000025932
AA Change: T492S

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: T459S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000079493
Gene: ENSMUSG00000025932
AA Change: T459S

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: T488S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000126383
Gene: ENSMUSG00000025932
AA Change: T488S

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: T492S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000141112
Gene: ENSMUSG00000025932
AA Change: T492S

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: 99.9%
3x: 99.7%
10x: 98.8%
20x: 97.1%

Validation Efficiency

98% (62/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	C	15: 8,244,306	V2591A	probably benign	Het
4930407I10Rik	A	G	15: 82,062,543	T214A	possibly damaging	Het
A930009A15Rik	G	T	10: 115,579,905		probably benign	Het
Aadac	A	C	3: 60,037,336	D143A	probably benign	Het
Acot10	T	G	15: 20,665,366	T430P	probably benign	Het
Adgrb3	T	C	1: 25,826,172	T197A	possibly damaging	Het
B230118H07Rik	T	C	2: 101,566,459	K192E	probably benign	Het
Bbs1	A	G	19: 4,900,615	I200T	probably damaging	Het
C1ra	G	A	6: 124,517,725	E316K	probably benign	Het
Cadps	G	A	14: 12,467,103	A943V	probably damaging	Het
Cc2d2a	A	G	5: 43,681,331	E48G	probably damaging	Het
Clca1	A	T	3: 145,018,667	C211S	probably damaging	Het
Col18a1	A	G	10: 77,054,239	L1429P	probably damaging	Het
Cul2	T	G	18: 3,421,263	Y196D	probably damaging	Het
D630023F18Rik	T	C	1: 65,117,206	S43G	probably benign	Het
Ddx39	G	A	8: 83,723,137	R427Q	probably damaging	Het
Def6	A	G	17: 28,223,717	T285A	probably damaging	Het
Defb21	T	A	2: 152,574,869	D88E	probably benign	Het
Defb6	A	G	8: 19,228,101	K63R	probably benign	Het
Dnph1	T	C	17: 46,498,744	S112P	probably damaging	Het
Dock10	T	A	1: 80,586,690	I467L	probably benign	Het
Dspp	C	A	5: 104,175,850	H286Q	probably benign	Het
Faf1	T	C	4: 109,861,852	L385P	probably damaging	Het
Fbxw21	C	A	9: 109,157,565	R82L	probably damaging	Het
Fryl	A	G	5: 73,065,094	V2048A	probably benign	Het
Galnt5	A	T	2: 58,035,299	D864V	possibly damaging	Het
Gata6	T	G	18: 11,054,460	S130A	possibly damaging	Het
Gbf1	G	T	19: 46,262,507	R434L	probably damaging	Het
Gga3	A	G	11: 115,585,762	F709L	probably damaging	Het
Hcar1	A	G	5: 123,879,130	V166A	probably benign	Het
Hexa	T	A	9: 59,563,937	N491K	possibly damaging	Het
Hpse2	A	T	19: 43,294,321	C164*	probably null	Het
Ifi202b	T	C	1: 173,974,989	Y93C	probably damaging	Het
Iscu	T	A	5: 113,775,243	I79N	probably damaging	Het
Jmjd7	T	A	2: 120,031,323	Y182*	probably null	Het
Jup	A	T	11: 100,383,458	D135E	probably benign	Het
Kit	T	A	5: 75,652,808	I881N	probably damaging	Het
Llgl1	T	A	11: 60,702,865	S55T	probably benign	Het
Lonp2	G	A	8: 86,709,096	M653I	probably benign	Het
Lrp8	T	C	4: 107,854,320	Y307H	probably damaging	Het
Med13	A	T	11: 86,278,796	M1914K	possibly damaging	Het
Ms4a1	A	G	19: 11,253,173		probably null	Het
Naip1	A	G	13: 100,427,341	S439P	probably benign	Het
Nrg1	T	C	8: 31,821,264	R476G	probably damaging	Het
Olfr1129	T	A	2: 87,574,918		probably null	Het
Olfr835	G	T	9: 19,035,301	M59I	probably damaging	Het
Pds5b	T	A	5: 150,805,561		probably null	Het
Phf12	G	A	11: 78,027,373	G804R	probably damaging	Het
Pou6f2	T	C	13: 18,239,489	T234A		Het
Prune2	A	T	19: 17,120,590	I1153L	probably benign	Het
Ptprc	C	T	1: 138,067,885		probably null	Het
Qpctl	T	C	7: 19,149,154	Q11R	probably benign	Het
Rfx4	A	G	10: 84,840,228	K103E	possibly damaging	Het
Srcin1	T	A	11: 97,551,980		probably null	Het
St6galnac1	G	T	11: 116,768,944	A181D	probably damaging	Het
Stk36	T	C	1: 74,622,239	V475A	probably benign	Het
Tbc1d21	T	C	9: 58,361,288	T263A	possibly damaging	Het
Tex24	A	T	8: 27,345,000	K185N	probably damaging	Het
Tnxb	T	A	17: 34,698,153	V2174E	possibly damaging	Het
Tollip	A	G	7: 141,890,845	S57P	probably benign	Het
Zbtb49	A	G	5: 38,213,241		probably benign	Het
Zfp758	A	G	17: 22,361,669	T30A	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACACTGGCCTCAAGGATGAC -3'
(R):5'- ATGATCGTTCTACCTCGCAG -3'

Sequencing Primer
(F):5'- CTGGCCTCAAGGATGACCAGTAG -3'
(R):5'- CTAAGAGGGAAGCCTGGCTC -3'

Posted On

2018-09-12