Mutagenetix > Incidental Mutation

Incidental Mutation 'R2114:Eya1'

232873

Institutional Source

Beutler Lab

Gene Symbol

Eya1

Ensembl Gene

ENSMUSG00000025932

Gene Name

EYA transcriptional coactivator and phosphatase 1

Synonyms

bor

MMRRC Submission

040118-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.860) question?

Stock #

R2114 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

14239178-14380459 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 14340998 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 163 (F163I)

Ref Sequence

ENSEMBL: ENSMUSP00000141072 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027066] [ENSMUST00000080664] [ENSMUST00000168081] [ENSMUST00000185453] [ENSMUST00000187790] [ENSMUST00000188857] [ENSMUST00000190337]

AlphaFold

P97767

Predicted Effect

probably damaging
Transcript: ENSMUST00000027066
AA Change: F162I

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000027066
Gene: ENSMUSG00000025932
AA Change: F162I

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: F129I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000079493
Gene: ENSMUSG00000025932
AA Change: F129I

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: F158I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126383
Gene: ENSMUSG00000025932
AA Change: F158I

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 damaging
Transcript: ENSMUST00000185453
AA Change: F163I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000141072
Gene: ENSMUSG00000025932
AA Change: F163I

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 damaging
Transcript: ENSMUST00000188857
AA Change: F130I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000140171
Gene: ENSMUSG00000025932
AA Change: F130I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000190337
AA Change: F162I

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141112
Gene: ENSMUSG00000025932
AA Change: F162I

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: 99.1%
3x: 98.6%
10x: 97.4%
20x: 95.6%

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
a	A	G	2: 154,889,649 (GRCm39)	R72G	probably benign	Het
Adgrb1	T	A	15: 74,412,411 (GRCm39)		probably null	Het
Akr1b7	G	A	6: 34,395,929 (GRCm39)	A144T	possibly damaging	Het
Anapc5	C	T	5: 122,926,001 (GRCm39)	V685I	probably benign	Het
Apba3	T	C	10: 81,108,946 (GRCm39)	Y570H	probably damaging	Het
Arf5	C	T	6: 28,424,783 (GRCm39)	Q71*	probably null	Het
Arl15	C	T	13: 114,104,196 (GRCm39)	S111F	probably damaging	Het
Ash1l	C	T	3: 88,890,571 (GRCm39)	L817F	probably benign	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Blvra	G	T	2: 126,927,989 (GRCm39)	E80*	probably null	Het
Bmp10	A	C	6: 87,411,441 (GRCm39)	E411D	probably benign	Het
Ccdc148	T	C	2: 58,892,128 (GRCm39)	E188G	probably damaging	Het
Ces1a	A	G	8: 93,766,179 (GRCm39)	L145P	possibly damaging	Het
Chsy3	G	A	18: 59,312,561 (GRCm39)	V345I	probably damaging	Het
Ckmt2	T	A	13: 92,003,964 (GRCm39)	I345F	probably benign	Het
Col5a2	T	A	1: 45,415,964 (GRCm39)	E1394D	probably damaging	Het
Dnah6	T	C	6: 73,121,018 (GRCm39)	N1492S	probably damaging	Het
Dock3	T	C	9: 106,870,743 (GRCm39)	N557S	probably benign	Het
Edem2	G	A	2: 155,544,479 (GRCm39)	R424C	probably damaging	Het
Exoc4	T	A	6: 33,324,760 (GRCm39)	N351K	possibly damaging	Het
Ezh1	A	C	11: 101,099,011 (GRCm39)	S290A	probably benign	Het
Fam83f	T	G	15: 80,576,468 (GRCm39)	V373G	possibly damaging	Het
Fam83h	A	T	15: 75,874,146 (GRCm39)	Y1064N	probably damaging	Het
Fat4	A	T	3: 39,035,633 (GRCm39)	H3095L	probably benign	Het
Fbxo38	A	C	18: 62,639,711 (GRCm39)	I1051S	possibly damaging	Het
Galnt6	G	C	15: 100,612,122 (GRCm39)	C173W	probably damaging	Het
Gcc2	T	A	10: 58,105,362 (GRCm39)	C99*	probably null	Het
Gcn1	A	T	5: 115,736,884 (GRCm39)	M1276L	probably benign	Het
Gm266	T	G	12: 111,452,116 (GRCm39)	Q30P	possibly damaging	Het
Gsdma	A	T	11: 98,563,838 (GRCm39)	E264V	probably damaging	Het
Ift74	A	G	4: 94,515,496 (GRCm39)	T138A	probably benign	Het
Ikzf1	T	G	11: 11,719,473 (GRCm39)	H480Q	probably damaging	Het
Ints14	T	G	9: 64,887,077 (GRCm39)	L336R	probably damaging	Het
Irak1	G	T	X: 73,066,218 (GRCm39)	P197Q	possibly damaging	Het
Kcna6	A	G	6: 126,716,322 (GRCm39)	V189A	possibly damaging	Het
Kcnh4	A	G	11: 100,650,421 (GRCm39)	M4T	probably damaging	Het
Kif4	A	G	X: 99,709,323 (GRCm39)	S315G	probably benign	Het
L3mbtl1	T	A	2: 162,801,990 (GRCm39)		probably null	Het
Lrwd1	T	A	5: 136,159,332 (GRCm39)	Y431F	probably damaging	Het
Madd	A	G	2: 90,994,367 (GRCm39)	V884A	probably damaging	Het
Maz	C	A	7: 126,624,677 (GRCm39)	C281F	probably damaging	Het
Mb	G	T	15: 76,906,759 (GRCm39)	Q9K	probably benign	Het
Mllt10	A	G	2: 18,167,380 (GRCm39)	N435S	probably benign	Het
Mrm3	T	C	11: 76,135,347 (GRCm39)	M186T	possibly damaging	Het
Naprt	T	C	15: 75,763,637 (GRCm39)	Y395C	probably damaging	Het
Nccrp1	T	A	7: 28,246,334 (GRCm39)	Q76L	probably benign	Het
Nlgn1	T	A	3: 26,187,414 (GRCm39)	N157I	probably damaging	Het
Nmi	T	C	2: 51,838,719 (GRCm39)	T272A	probably benign	Het
Obscn	C	T	11: 59,022,484 (GRCm39)	V754M	probably damaging	Het
Pcdhb12	A	G	18: 37,569,265 (GRCm39)	E137G	probably damaging	Het
Pdk2	A	G	11: 94,918,088 (GRCm39)	Y382H	probably damaging	Het
Phka1	C	T	X: 101,653,807 (GRCm39)	R290H	probably damaging	Het
Pick1	T	A	15: 79,139,781 (GRCm39)		probably benign	Het
Pik3r2	T	C	8: 71,222,029 (GRCm39)	I585V	probably benign	Het
Pitrm1	A	T	13: 6,607,809 (GRCm39)	Y268F	probably damaging	Het
Polr2b	G	A	5: 77,468,817 (GRCm39)	E198K	probably damaging	Het
Prelid3b	T	C	2: 174,311,243 (GRCm39)	N9D	probably damaging	Het
Prex2	T	A	1: 11,256,937 (GRCm39)	N1216K	probably damaging	Het
Prkab2	A	T	3: 97,574,711 (GRCm39)	M236L	possibly damaging	Het
Prkar2b	T	A	12: 32,017,279 (GRCm39)	N257I	probably damaging	Het
Prkcd	A	G	14: 30,327,808 (GRCm39)	C208R	probably damaging	Het
Prkch	T	A	12: 73,749,290 (GRCm39)	S347T	probably benign	Het
Prr12	A	G	7: 44,695,506 (GRCm39)	V1320A	unknown	Het
Ptk2	A	G	15: 73,114,255 (GRCm39)	V701A	possibly damaging	Het
Ptpra	G	T	2: 130,381,655 (GRCm39)	R372L	probably damaging	Het
Ptx3	T	A	3: 66,132,187 (GRCm39)	I236N	probably damaging	Het
Ralgapa1	T	C	12: 55,833,134 (GRCm39)		probably null	Het
Rgr	T	A	14: 36,760,809 (GRCm39)		probably null	Het
Rgs7	T	A	1: 174,918,639 (GRCm39)	N235I	probably damaging	Het
Rgsl1	T	A	1: 153,693,295 (GRCm39)	M629L	probably benign	Het
Rpgrip1	A	T	14: 52,387,024 (GRCm39)	E781V	probably benign	Het
Rrh	T	C	3: 129,604,336 (GRCm39)	I288M	probably damaging	Het
Rtf1	T	A	2: 119,535,999 (GRCm39)	H184Q	probably benign	Het
Rusc1	T	C	3: 88,999,014 (GRCm39)	D256G	probably benign	Het
Scap	T	C	9: 110,210,341 (GRCm39)	Y917H	probably damaging	Het
Scn9a	T	C	2: 66,314,396 (GRCm39)	E1774G	probably damaging	Het
Sec11c	A	T	18: 65,933,720 (GRCm39)	T9S	probably benign	Het
Slc24a2	C	T	4: 86,909,592 (GRCm39)	V664I	probably benign	Het
Stim2	A	G	5: 54,261,819 (GRCm39)	Q237R	probably damaging	Het
Synpo2	T	A	3: 122,873,537 (GRCm39)	H1143L	probably benign	Het
Syt4	A	G	18: 31,573,520 (GRCm39)	Y332H	probably damaging	Het
Tcf23	G	A	5: 31,130,919 (GRCm39)	D186N	probably benign	Het
Tcf3	C	A	10: 80,246,040 (GRCm39)	G628W	probably damaging	Het
Tcof1	T	C	18: 60,965,857 (GRCm39)	E415G	possibly damaging	Het
Tlr5	T	C	1: 182,803,194 (GRCm39)	W833R	probably damaging	Het
Tmem132b	A	G	5: 125,699,615 (GRCm39)	E92G	probably damaging	Het
Ttn	A	T	2: 76,577,352 (GRCm39)	S24514T	probably damaging	Het
Txndc16	T	C	14: 45,382,484 (GRCm39)	E587G	probably benign	Het
Ubr4	A	T	4: 139,156,922 (GRCm39)	K2316*	probably null	Het
Usp20	T	A	2: 30,906,317 (GRCm39)	C562S	probably damaging	Het
Vat1	A	T	11: 101,356,568 (GRCm39)	V131E	probably damaging	Het
Vgll1	A	C	X: 56,137,790 (GRCm39)	K53T	probably damaging	Het
Zfp1005	T	A	2: 150,109,819 (GRCm39)	C170S	unknown	Het
Zfp592	G	A	7: 80,674,544 (GRCm39)	V503M	probably damaging	Het
Zfp786	A	G	6: 47,803,931 (GRCm39)	V37A	probably damaging	Het
Zscan30	A	G	18: 24,104,173 (GRCm39)		noncoding transcript	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
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
R7384:Eya1	UTSW	1	14,299,736 (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'- ATCTTGGTTCAGAGCGCAG -3'
(R):5'- AGAACTGTGGGAATTTGACTGG -3'

Sequencing Primer
(F):5'- ATCCTGTCTCTGAGCCCAGG -3'
(R):5'- ACTGGGTAGTTGTGGGGTATATAC -3'

Posted On

2014-09-18