Mutagenetix > Incidental Mutation

Incidental Mutation 'R1521:Eya1'

166934

Institutional Source

Beutler Lab

Gene Symbol

Eya1

Ensembl Gene

ENSMUSG00000025932

Gene Name

EYA transcriptional coactivator and phosphatase 1

Synonyms

bor

MMRRC Submission

040870-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.847) question?

Stock #

R1521 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

14239178-14380459 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 14344774 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 86 (Q86K)

Ref Sequence

ENSEMBL: ENSMUSP00000139542 (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: Q86K

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000027066
Gene: ENSMUSG00000025932
AA Change: Q86K

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: Q53K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000079493
Gene: ENSMUSG00000025932
AA Change: Q53K

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: Q86K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000126383
Gene: ENSMUSG00000025932
AA Change: Q86K

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: ENSMUST00000185453
AA Change: Q86K

PolyPhen 2 Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000141072
Gene: ENSMUSG00000025932
AA Change: Q86K

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: ENSMUST00000187790
AA Change: Q86K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000139542
Gene: ENSMUSG00000025932
AA Change: Q86K

Domain	Start	End	E-Value	Type
low complexity region	8	23	N/A	INTRINSIC
low complexity region	56	75	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000188857
AA Change: Q53K

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000140171
Gene: ENSMUSG00000025932
AA Change: Q53K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000190337
AA Change: Q86K

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141112
Gene: ENSMUSG00000025932
AA Change: Q86K

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: 98.5%
10x: 96.8%
20x: 94.6%

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: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat1	A	G	8: 112,713,867 (GRCm39)	L104P	possibly damaging	Het
Adgrf5	T	C	17: 43,741,443 (GRCm39)	V360A	probably benign	Het
Ahnak	G	A	19: 8,982,092 (GRCm39)	M1125I	probably benign	Het
Akap12	T	C	10: 4,304,804 (GRCm39)	V538A	probably benign	Het
Arhgef10l	T	C	4: 140,242,749 (GRCm39)	D1088G	possibly damaging	Het
Atp7b	A	T	8: 22,517,689 (GRCm39)	L268Q	probably damaging	Het
Atxn2	A	C	5: 121,917,654 (GRCm39)	N516T	probably damaging	Het
Cacna1h	T	C	17: 25,616,328 (GRCm39)	M184V	possibly damaging	Het
Cacnb2	G	T	2: 14,619,163 (GRCm39)	R66L	probably benign	Het
Casp8ap2	A	G	4: 32,631,867 (GRCm39)	E96G	probably damaging	Het
Ccdc78	G	T	17: 26,007,755 (GRCm39)	R264L	probably damaging	Het
Cdh4	G	A	2: 179,439,351 (GRCm39)	R166H	probably damaging	Het
Cog7	C	T	7: 121,529,797 (GRCm39)	D615N	possibly damaging	Het
Crtc2	T	C	3: 90,164,690 (GRCm39)	V115A	probably benign	Het
Crybg1	A	G	10: 43,874,412 (GRCm39)	S899P	probably damaging	Het
Ctdnep1	T	A	11: 69,879,461 (GRCm39)	V128E	probably damaging	Het
Ctnna3	A	G	10: 64,795,621 (GRCm39)	K780E	probably benign	Het
Cul7	T	A	17: 46,974,116 (GRCm39)	L1467H	probably damaging	Het
Dazap2	T	A	15: 100,515,946 (GRCm39)	Y91*	probably null	Het
Dcdc5	T	C	2: 106,182,014 (GRCm39)		noncoding transcript	Het
Dppa1	T	A	11: 46,501,300 (GRCm39)	R74S	possibly damaging	Het
Elovl1	A	T	4: 118,289,197 (GRCm39)	T241S	probably benign	Het
Fam110d	T	C	4: 133,978,661 (GRCm39)	*272W	probably null	Het
Fancm	A	T	12: 65,168,478 (GRCm39)	M1614L	probably benign	Het
Fcgbp	C	T	7: 27,774,585 (GRCm39)	T53I	probably benign	Het
Fpr3	T	A	17: 18,191,277 (GRCm39)	W183R	probably damaging	Het
Galnt13	G	A	2: 54,744,657 (GRCm39)	V119I	probably benign	Het
Garin4	T	A	1: 190,896,219 (GRCm39)	R141S	probably benign	Het
Gcfc2	T	C	6: 81,900,793 (GRCm39)	S36P	probably benign	Het
Gdap2	T	A	3: 100,101,931 (GRCm39)	D412E	possibly damaging	Het
Gm12258	T	C	11: 58,750,381 (GRCm39)	C41R	probably damaging	Het
Hipk1	T	G	3: 103,685,098 (GRCm39)	E172D	probably benign	Het
Hmgcs1	T	G	13: 120,165,127 (GRCm39)	L326R	probably benign	Het
Hs6st1	C	A	1: 36,107,967 (GRCm39)	R77S	probably damaging	Het
Ifit3	A	T	19: 34,564,573 (GRCm39)	N40Y	probably damaging	Het
Il1a	T	A	2: 129,146,661 (GRCm39)	Q144L	possibly damaging	Het
Itga7	A	G	10: 128,793,680 (GRCm39)	E1128G	possibly damaging	Het
Itih2	T	C	2: 10,111,558 (GRCm39)	D460G	probably damaging	Het
Ivns1abp	G	A	1: 151,227,309 (GRCm39)	C39Y	probably damaging	Het
Kif22	G	T	7: 126,627,011 (GRCm39)	A646E	probably damaging	Het
Klhl29	T	C	12: 5,141,307 (GRCm39)	Y559C	probably damaging	Het
Klhl7	T	A	5: 24,354,108 (GRCm39)		probably null	Het
Klhl9	A	G	4: 88,640,230 (GRCm39)	S4P	probably benign	Het
Klk10	A	G	7: 43,432,304 (GRCm39)	Q79R	probably benign	Het
Klk6	T	C	7: 43,478,699 (GRCm39)		probably null	Het
Kpna2rt	T	A	17: 90,217,734 (GRCm39)	N4I	possibly damaging	Het
Lamc2	C	T	1: 153,042,009 (GRCm39)	E42K	probably benign	Het
Lingo3	T	C	10: 80,671,555 (GRCm39)	D125G	probably benign	Het
Map1b	T	C	13: 99,569,247 (GRCm39)	N1158S	unknown	Het
Masp1	T	A	16: 23,313,387 (GRCm39)	N183Y	probably damaging	Het
Mdga2	A	G	12: 66,615,700 (GRCm39)	Y636H	probably benign	Het
Mical2	T	A	7: 111,980,817 (GRCm39)	S264T	probably damaging	Het
Mif	A	G	10: 75,695,375 (GRCm39)	V95A	possibly damaging	Het
Mmp17	G	A	5: 129,672,152 (GRCm39)		probably null	Het
Mmp23	T	C	4: 155,735,174 (GRCm39)	R390G	possibly damaging	Het
Ncoa6	A	C	2: 155,257,142 (GRCm39)	S800R	possibly damaging	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Nr2e3	A	T	9: 59,856,488 (GRCm39)	S67R	probably damaging	Het
Odf2l	T	C	3: 144,854,797 (GRCm39)	S545P	possibly damaging	Het
Or10d3	A	T	9: 39,462,080 (GRCm39)	V29E	possibly damaging	Het
Or4a47	G	A	2: 89,665,516 (GRCm39)	R258*	probably null	Het
Or52s1b	T	A	7: 102,822,658 (GRCm39)	Y62F	probably benign	Het
Or5k1b	C	T	16: 58,581,216 (GRCm39)	E108K	probably damaging	Het
Or7e176	A	C	9: 20,171,728 (GRCm39)	Q197H	possibly damaging	Het
Or7g27	C	T	9: 19,249,948 (GRCm39)	S64F	probably benign	Het
Or8b51	T	G	9: 38,569,014 (GRCm39)	I225L	probably damaging	Het
Otog	A	T	7: 45,908,688 (GRCm39)	H562L	possibly damaging	Het
Pcdh15	T	C	10: 74,430,023 (GRCm39)	V1250A	probably damaging	Het
Pde1c	A	G	6: 56,150,592 (GRCm39)	V309A	possibly damaging	Het
Pfkfb4	A	C	9: 108,836,373 (GRCm39)	T134P	probably damaging	Het
Phc3	G	T	3: 30,990,724 (GRCm39)	Q498K	possibly damaging	Het
Phlpp1	T	C	1: 106,320,049 (GRCm39)	V1348A	probably damaging	Het
Pik3ap1	T	C	19: 41,309,997 (GRCm39)	D441G	probably damaging	Het
Pkd1l2	T	C	8: 117,792,239 (GRCm39)		probably null	Het
Pla2g4a	T	C	1: 149,733,437 (GRCm39)		probably null	Het
Pola2	A	T	19: 5,998,434 (GRCm39)	I376N	probably damaging	Het
Pold2	T	A	11: 5,826,833 (GRCm39)	N34Y	probably damaging	Het
Ppp2r5c	T	C	12: 110,521,320 (GRCm39)	L281P	probably damaging	Het
Prss46	A	G	9: 110,678,703 (GRCm39)	I29V	probably benign	Het
Ranbp6	A	T	19: 29,788,846 (GRCm39)	V502E	probably benign	Het
Rdh14	T	C	12: 10,444,613 (GRCm39)	F155L	probably damaging	Het
Rnaseh2a	A	T	8: 85,692,487 (GRCm39)		probably null	Het
Rpp30	A	G	19: 36,071,785 (GRCm39)	T118A	possibly damaging	Het
Rragd	T	C	4: 32,996,005 (GRCm39)	F117L	probably damaging	Het
Rxylt1	A	G	10: 121,926,384 (GRCm39)	W243R	probably damaging	Het
S100a2	T	A	3: 90,498,599 (GRCm39)		probably null	Het
Septin12	T	C	16: 4,814,340 (GRCm39)	K43R	probably damaging	Het
Sh3tc2	A	G	18: 62,141,559 (GRCm39)	E1080G	probably damaging	Het
Slc26a9	A	G	1: 131,678,415 (GRCm39)	K27R	probably damaging	Het
Spata17	T	A	1: 186,926,191 (GRCm39)	K46N	probably damaging	Het
St14	A	C	9: 31,019,511 (GRCm39)	D103E	probably benign	Het
St6galnac2	T	A	11: 116,575,173 (GRCm39)	Q222L	possibly damaging	Het
Tdrd9	T	C	12: 112,002,844 (GRCm39)	V831A	probably damaging	Het
Tert	A	G	13: 73,790,175 (GRCm39)	E843G	probably damaging	Het
Tex21	A	G	12: 76,251,044 (GRCm39)	V464A	probably benign	Het
Tmem232	T	A	17: 65,791,496 (GRCm39)	H124L	probably damaging	Het
Tnfrsf19	T	G	14: 61,242,555 (GRCm39)	S110R	probably damaging	Het
Tnnt3	A	T	7: 142,069,562 (GRCm39)	K272*	probably null	Het
Tnxb	T	C	17: 34,930,477 (GRCm39)	L2054P	probably damaging	Het
Trcg1	A	C	9: 57,149,748 (GRCm39)	D440A	probably benign	Het
Trpm3	A	G	19: 22,878,585 (GRCm39)	E504G	probably damaging	Het
Trpm5	C	T	7: 142,636,626 (GRCm39)	R437H	probably benign	Het
Ttn	T	C	2: 76,571,511 (GRCm39)	R18134G	probably damaging	Het
Uchl5	A	C	1: 143,674,160 (GRCm39)	M64L	possibly damaging	Het
Urb1	G	A	16: 90,550,751 (GRCm39)	R2034W	probably damaging	Het
Usp44	T	A	10: 93,683,048 (GRCm39)	C452*	probably null	Het
Uvssa	G	A	5: 33,571,278 (GRCm39)	A641T	probably damaging	Het
Vmn1r204	T	A	13: 22,741,248 (GRCm39)	I293N	probably benign	Het
Vmn2r84	A	T	10: 130,225,137 (GRCm39)	C458S	probably benign	Het
Vmn2r85	T	G	10: 130,261,788 (GRCm39)	H183P	probably damaging	Het
Vps13d	G	T	4: 144,832,431 (GRCm39)	T2825K	probably benign	Het
Zc3hc1	T	A	6: 30,376,024 (GRCm39)	I179F	probably benign	Het
Zfp112	A	G	7: 23,825,210 (GRCm39)	N393D	probably damaging	Het
Zfp558	A	G	9: 18,367,859 (GRCm39)	S310P	possibly damaging	Het
Zfp560	A	C	9: 20,260,071 (GRCm39)		probably null	Het
Zfp668	C	T	7: 127,466,252 (GRCm39)	E311K	probably benign	Het
Zfp763	T	A	17: 33,252,276 (GRCm39)	M1L	probably benign	Het
Zfp947	A	T	17: 22,364,813 (GRCm39)	M287K	probably benign	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
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
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'- ACTGTGTTTGCCCATATGCAGCC -3'
(R):5'- TCACCCAGTCTACAGATCACAGAGG -3'

Sequencing Primer
(F):5'- GCCCATATGCAGCCATAGTTTG -3'
(R):5'- CACAGAGGTCAGGTACAGTGTTAC -3'

Posted On

2014-04-13