Mutagenetix > Incidental Mutation

Incidental Mutation 'R7384:Eya1'

572913

Institutional Source

Beutler Lab

Gene Symbol

Eya1

Ensembl Gene

ENSMUSG00000025932

Gene Name

EYA transcriptional coactivator and phosphatase 1

Synonyms

bor

MMRRC Submission

045466-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.860) question?

Stock #

R7384 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

14239178-14380459 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 14299736 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 339 (Y339F)

Ref Sequence

ENSEMBL: ENSMUSP00000126383 (fasta)

Gene Model

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

AlphaFold

P97767

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027066
AA Change: Y343F

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000027066
Gene: ENSMUSG00000025932
AA Change: Y343F

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 damaging
Transcript: ENSMUST00000080664
AA Change: Y310F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000079493
Gene: ENSMUSG00000025932
AA Change: Y310F

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 damaging
Transcript: ENSMUST00000168081
AA Change: Y339F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126383
Gene: ENSMUSG00000025932
AA Change: Y339F

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

possibly damaging
Transcript: ENSMUST00000190337
AA Change: Y343F

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000141112
Gene: ENSMUSG00000025932
AA Change: Y343F

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm5	T	A	4: 144,507,191 (GRCm39)	I65F	possibly damaging	Het
Abca13	C	A	11: 9,283,257 (GRCm39)	S3226R	probably damaging	Het
Abhd14b	A	G	9: 106,327,340 (GRCm39)	I41V	probably benign	Het
Acot2	T	C	12: 84,039,441 (GRCm39)	S317P	probably benign	Het
Acp7	T	C	7: 28,314,513 (GRCm39)	E284G	possibly damaging	Het
Adamts5	A	G	16: 85,696,714 (GRCm39)	F148L	probably benign	Het
Adcy10	C	T	1: 165,404,177 (GRCm39)	P1611S	unknown	Het
Agr2	A	G	12: 36,045,923 (GRCm39)	T57A	probably damaging	Het
Ankar	T	G	1: 72,697,624 (GRCm39)	I1060L	probably benign	Het
Ano10	T	A	9: 122,005,409 (GRCm39)	D77V	unknown	Het
Anxa2r1	T	A	13: 120,496,797 (GRCm39)	Q24L	possibly damaging	Het
Apc2	G	A	10: 80,148,458 (GRCm39)	V1171I	probably damaging	Het
Apoa4	G	A	9: 46,152,772 (GRCm39)	R19Q	not run	Het
Arhgap33	A	G	7: 30,226,696 (GRCm39)	S504P	probably damaging	Het
Atg2a	T	C	19: 6,311,707 (GRCm39)	V1862A	probably damaging	Het
Atp7b	T	C	8: 22,512,331 (GRCm39)	S511G	probably benign	Het
Bcl10	A	G	3: 145,638,795 (GRCm39)	K146E	possibly damaging	Het
Bsg	A	T	10: 79,545,631 (GRCm39)	D181V	probably damaging	Het
Btg4	T	C	9: 51,030,413 (GRCm39)	V171A	probably benign	Het
Cdh8	A	C	8: 99,957,138 (GRCm39)	N188K	probably benign	Het
Cflar	C	A	1: 58,791,735 (GRCm39)	T346K		Het
Chrna5	T	C	9: 54,912,117 (GRCm39)	S306P	probably damaging	Het
Cldn20	G	A	17: 3,582,886 (GRCm39)	G20R	probably damaging	Het
Clns1a	G	A	7: 97,345,988 (GRCm39)	A18T	probably benign	Het
D130043K22Rik	A	G	13: 25,066,588 (GRCm39)	Y795C	probably damaging	Het
Dync1li2	A	C	8: 105,169,175 (GRCm39)	S38A	probably benign	Het
Dysf	A	G	6: 84,091,087 (GRCm39)	E1043G	probably benign	Het
Elapor1	A	T	3: 108,370,784 (GRCm39)		probably null	Het
Eral1	A	G	11: 77,964,927 (GRCm39)	I422T	possibly damaging	Het
Exoc3	G	A	13: 74,320,275 (GRCm39)	P729S	probably benign	Het
Faah	G	T	4: 115,862,364 (GRCm39)	N206K	probably damaging	Het
Fem1a	A	G	17: 56,564,537 (GRCm39)	E210G	probably benign	Het
Gcc2	T	A	10: 58,105,786 (GRCm39)	S341T	probably damaging	Het
Gfpt2	A	T	11: 49,701,817 (GRCm39)	I123F	possibly damaging	Het
Gm3047	T	A	14: 4,558,271 (GRCm38)	N164K	probably damaging	Het
Gm3327	A	G	14: 44,362,334 (GRCm39)	K78E		Het
Herpud1	A	G	8: 95,116,005 (GRCm39)	I57V	probably damaging	Het
Homer1	A	T	13: 93,529,547 (GRCm39)	R285S	possibly damaging	Het
Hps6	T	A	19: 45,992,456 (GRCm39)	V131E	possibly damaging	Het
Il1r1	T	A	1: 40,321,421 (GRCm39)	I11N	possibly damaging	Het
Jakmip1	T	A	5: 37,330,551 (GRCm39)	D410E	possibly damaging	Het
Kif3a	T	A	11: 53,469,681 (GRCm39)	F97L	probably damaging	Het
Klf11	C	T	12: 24,703,742 (GRCm39)	T76I	probably damaging	Het
Ldlr	A	C	9: 21,651,090 (GRCm39)	T503P	probably benign	Het
Mapk3	G	C	7: 126,363,463 (GRCm39)	R279P		Het
Mb21d2	A	T	16: 28,647,664 (GRCm39)	D103E	probably benign	Het
Msh4	T	A	3: 153,594,385 (GRCm39)	M333L	probably benign	Het
Mycbp2	A	G	14: 103,513,829 (GRCm39)	I836T	probably damaging	Het
Myh1	A	T	11: 67,115,201 (GRCm39)	E1912V	possibly damaging	Het
Ncapd2	A	G	6: 125,150,364 (GRCm39)	V887A	probably benign	Het
Nlrp4a	G	A	7: 26,148,963 (GRCm39)	R190Q	not run	Het
Nop53	T	C	7: 15,673,420 (GRCm39)	T344A	probably damaging	Het
Or2r3	A	T	6: 42,448,257 (GRCm39)	L285Q	possibly damaging	Het
Or5an11	T	C	19: 12,246,440 (GRCm39)	V282A	possibly damaging	Het
Or7h8	A	G	9: 20,124,041 (GRCm39)	Y132C	probably damaging	Het
Pcyox1l	A	C	18: 61,831,461 (GRCm39)	V266G	probably damaging	Het
Pde5a	A	G	3: 122,618,649 (GRCm39)	Y654C	probably damaging	Het
Polq	T	C	16: 36,849,780 (GRCm39)	S345P	probably damaging	Het
Polr1f	G	T	12: 33,483,631 (GRCm39)	G128W	probably damaging	Het
Prdm1	A	T	10: 44,334,503 (GRCm39)	C8S	probably benign	Het
Psg17	T	A	7: 18,552,585 (GRCm39)	Q230L	possibly damaging	Het
Rab11fip5	A	T	6: 85,325,312 (GRCm39)	S332T	possibly damaging	Het
Rac2	T	A	15: 78,446,131 (GRCm39)	K186*	probably null	Het
S100pbp	T	C	4: 129,075,702 (GRCm39)	N208D	probably benign	Het
Scaf11	A	T	15: 96,318,268 (GRCm39)	V432D	possibly damaging	Het
Skic3	A	C	13: 76,298,854 (GRCm39)	S1187R	possibly damaging	Het
Slc34a1	G	T	13: 55,550,747 (GRCm39)	C225F	probably benign	Het
Slc35e2	A	T	4: 155,695,089 (GRCm39)	M152L	probably benign	Het
Slc49a3	A	T	5: 108,593,926 (GRCm39)	I61K	probably damaging	Het
Slc9a4	T	A	1: 40,651,411 (GRCm39)	I563K	probably benign	Het
Sppl3	T	G	5: 115,199,700 (GRCm39)		probably null	Het
Stam	T	C	2: 14,139,241 (GRCm39)	F301L	probably benign	Het
Supt16	G	A	14: 52,418,619 (GRCm39)	R213W	probably damaging	Het
Tbc1d8	A	T	1: 39,433,179 (GRCm39)	D334E	probably benign	Het
Tmem87a	C	T	2: 120,202,004 (GRCm39)		probably null	Het
Tnk1	T	C	11: 69,742,447 (GRCm39)	Y661C	probably damaging	Het
Tnpo2	G	A	8: 85,776,748 (GRCm39)	R485H	probably damaging	Het
Tnxb	A	G	17: 34,937,492 (GRCm39)	D2947G	probably damaging	Het
Traf4	A	G	11: 78,051,617 (GRCm39)		probably null	Het
Trappc10	A	T	10: 78,045,218 (GRCm39)	M490K	possibly damaging	Het
Trav12-1	A	G	14: 53,775,993 (GRCm39)	T49A	probably benign	Het
Ubap1l	AGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGA	9: 65,279,032 (GRCm39)		probably benign	Het
Unc79	G	T	12: 103,137,837 (GRCm39)	V2485L	probably benign	Het
Ush2a	T	C	1: 188,132,360 (GRCm39)	S861P	probably damaging	Het
Vcam1	A	G	3: 115,910,877 (GRCm39)	V507A	possibly damaging	Het
Vmn1r218	A	G	13: 23,320,895 (GRCm39)	M81V	probably benign	Het
Zfp652	G	T	11: 95,643,830 (GRCm39)	V343L	probably damaging	Het

Other mutations in Eya1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00978:Eya1	APN	1	14,340,925 (GRCm39)	splice site	probably benign
IGL01110:Eya1	APN	1	14,353,354 (GRCm39)	missense	probably damaging	1.00
IGL02266:Eya1	APN	1	14,254,725 (GRCm39)	missense	possibly damaging	0.63
IGL03027:Eya1	APN	1	14,241,190 (GRCm39)	missense	probably damaging	1.00
IGL03081:Eya1	APN	1	14,253,415 (GRCm39)	missense	possibly damaging	0.76
IGL03291:Eya1	APN	1	14,254,572 (GRCm39)	critical splice donor site	probably null
IGL03353:Eya1	APN	1	14,249,751 (GRCm39)	missense	probably damaging	1.00
R0042:Eya1	UTSW	1	14,254,713 (GRCm39)	missense	probably damaging	0.98
R0042:Eya1	UTSW	1	14,254,713 (GRCm39)	missense	probably damaging	0.98
R1428:Eya1	UTSW	1	14,374,638 (GRCm39)	splice site	probably benign
R1521:Eya1	UTSW	1	14,344,774 (GRCm39)	missense	probably damaging	0.99
R1571:Eya1	UTSW	1	14,279,141 (GRCm39)	missense	probably damaging	1.00
R1768:Eya1	UTSW	1	14,323,299 (GRCm39)	missense	possibly damaging	0.95
R1785:Eya1	UTSW	1	14,241,198 (GRCm39)	missense	probably benign	0.16
R1840:Eya1	UTSW	1	14,299,728 (GRCm39)	nonsense	probably null
R2114:Eya1	UTSW	1	14,340,998 (GRCm39)	missense	probably damaging	1.00
R2131:Eya1	UTSW	1	14,241,198 (GRCm39)	missense	probably benign	0.16
R2212:Eya1	UTSW	1	14,344,433 (GRCm39)	critical splice acceptor site	probably null
R2416:Eya1	UTSW	1	14,340,927 (GRCm39)	critical splice donor site	probably null
R2424:Eya1	UTSW	1	14,341,072 (GRCm39)	splice site	probably benign
R3085:Eya1	UTSW	1	14,344,314 (GRCm39)	missense	probably benign	0.01
R3158:Eya1	UTSW	1	14,374,691 (GRCm39)	start gained	probably benign
R3412:Eya1	UTSW	1	14,344,433 (GRCm39)	critical splice acceptor site	probably null
R3413:Eya1	UTSW	1	14,344,433 (GRCm39)	critical splice acceptor site	probably null
R3693:Eya1	UTSW	1	14,299,725 (GRCm39)	missense	probably damaging	1.00
R3694:Eya1	UTSW	1	14,299,725 (GRCm39)	missense	probably damaging	1.00
R3899:Eya1	UTSW	1	14,340,971 (GRCm39)	missense	probably benign	0.04
R4454:Eya1	UTSW	1	14,253,420 (GRCm39)	missense	probably damaging	0.98
R4455:Eya1	UTSW	1	14,253,420 (GRCm39)	missense	probably damaging	0.98
R4456:Eya1	UTSW	1	14,253,420 (GRCm39)	missense	probably damaging	0.98
R4458:Eya1	UTSW	1	14,253,420 (GRCm39)	missense	probably damaging	0.98
R4761:Eya1	UTSW	1	14,373,045 (GRCm39)	missense	probably damaging	1.00
R5011:Eya1	UTSW	1	14,254,582 (GRCm39)	missense	probably damaging	1.00
R5013:Eya1	UTSW	1	14,254,582 (GRCm39)	missense	probably damaging	1.00
R5613:Eya1	UTSW	1	14,373,153 (GRCm39)	intron	probably benign
R5687:Eya1	UTSW	1	14,253,476 (GRCm39)	missense	probably damaging	0.99
R6052:Eya1	UTSW	1	14,353,374 (GRCm39)	missense	probably damaging	1.00
R6181:Eya1	UTSW	1	14,373,096 (GRCm39)	missense	probably damaging	0.99
R6378:Eya1	UTSW	1	14,373,027 (GRCm39)	missense	possibly damaging	0.93
R6805:Eya1	UTSW	1	14,253,501 (GRCm39)	missense	probably benign	0.00
R6863:Eya1	UTSW	1	14,341,199 (GRCm39)	splice site	probably null
R7032:Eya1	UTSW	1	14,353,424 (GRCm39)	critical splice acceptor site	probably null
R7044:Eya1	UTSW	1	14,301,634 (GRCm39)	splice site	probably null
R7078:Eya1	UTSW	1	14,301,636 (GRCm39)	critical splice donor site	probably null
R7179:Eya1	UTSW	1	14,373,076 (GRCm39)	missense	probably damaging	1.00
R7462:Eya1	UTSW	1	14,301,638 (GRCm39)	missense	probably null	0.99
R8490:Eya1	UTSW	1	14,254,899 (GRCm39)	missense	possibly damaging	0.90
R8527:Eya1	UTSW	1	14,322,672 (GRCm39)	missense	probably damaging	1.00
R8724:Eya1	UTSW	1	14,279,206 (GRCm39)	missense	probably benign	0.01
R9462:Eya1	UTSW	1	14,299,775 (GRCm39)	missense	probably damaging	1.00
R9608:Eya1	UTSW	1	14,373,029 (GRCm39)	missense	probably benign	0.10
Z1176:Eya1	UTSW	1	14,373,092 (GRCm39)	missense	probably damaging	1.00
Z1176:Eya1	UTSW	1	14,322,654 (GRCm39)	missense	probably benign
Z1177:Eya1	UTSW	1	14,323,314 (GRCm39)	missense	possibly damaging	0.68
Z1177:Eya1	UTSW	1	14,254,653 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TTCGTGCAGGGAGACAAAGC -3'
(R):5'- ACCTGACAGTTGGGAGATGC -3'

Sequencing Primer
(F):5'- GCATAAGCTGAATGGAATCTGTCTC -3'
(R):5'- TGCCCTTAGGAAAAGCTGAGTG -3'

Posted On

2019-09-13