Mutagenetix > Incidental Mutation

Incidental Mutation 'R9608:Eya1'

723980

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: 0.847) question?

Stock #

R9608 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

14239178-14380459 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 14373029 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 30 (I30K)

Ref Sequence

ENSEMBL: ENSMUSP00000126383 (fasta)

Gene Model

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

AlphaFold

P97767

Predicted Effect

probably benign
Transcript: ENSMUST00000027066
AA Change: I30K

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000027066
Gene: ENSMUSG00000025932
AA Change: I30K

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

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 benign
Transcript: ENSMUST00000168081
AA Change: I30K

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000126383
Gene: ENSMUSG00000025932
AA Change: I30K

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

SMART Domains

Protein: ENSMUSP00000141072
Gene: ENSMUSG00000025932
AA Change: I30K

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: I30K

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

SMART Domains

Protein: ENSMUSP00000139542
Gene: ENSMUSG00000025932
AA Change: I30K

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: ENSMUST00000188857

SMART Domains

Protein: ENSMUSP00000140171
Gene: ENSMUSG00000025932

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

Predicted Effect

probably benign
Transcript: ENSMUST00000190337
AA Change: I30K

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000141112
Gene: ENSMUSG00000025932
AA Change: I30K

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: 99.9%
10x: 99.6%
20x: 98.9%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	T	A	19: 55,272,884 (GRCm39)	I333N	probably damaging	Het
Adam2	T	C	14: 66,291,279 (GRCm39)	N333S	probably null	Het
Adgrb2	A	G	4: 129,907,352 (GRCm39)	T955A	probably damaging	Het
Agxt2	T	C	15: 10,400,624 (GRCm39)	F476S	possibly damaging	Het
Asb14	T	A	14: 26,634,148 (GRCm39)	F451Y	probably damaging	Het
Atg9a	A	T	1: 75,161,739 (GRCm39)	N602K	possibly damaging	Het
Atp2a3	T	C	11: 72,879,866 (GRCm39)	I978T	probably benign	Het
BC034090	A	G	1: 155,099,135 (GRCm39)	V550A	possibly damaging	Het
Bud23	T	A	5: 135,086,526 (GRCm39)		probably null	Het
C1qtnf3	A	T	15: 10,952,568 (GRCm39)	H10L	probably benign	Het
Cage1	G	C	13: 38,195,371 (GRCm39)	I783M	possibly damaging	Het
Ccdc142	C	T	6: 83,084,082 (GRCm39)	Q496*	probably null	Het
Cd163	A	C	6: 124,286,163 (GRCm39)	K238Q	possibly damaging	Het
Cdh6	A	T	15: 13,064,621 (GRCm39)	Y90N	probably damaging	Het
Cpeb1	A	G	7: 81,021,758 (GRCm39)		probably null	Het
Cpt2	G	T	4: 107,765,341 (GRCm39)	P141Q	probably damaging	Het
Cspg4	T	A	9: 56,792,836 (GRCm39)	H190Q	probably benign	Het
Dcst1	T	C	3: 89,266,442 (GRCm39)	M139V	possibly damaging	Het
Dennd5a	G	C	7: 109,520,713 (GRCm39)	N381K	probably damaging	Het
Dera	A	G	6: 137,813,876 (GRCm39)	R299G	possibly damaging	Het
Dnah2	C	T	11: 69,344,888 (GRCm39)	G2729R	probably null	Het
Dnajc11	A	G	4: 152,034,978 (GRCm39)	E67G	possibly damaging	Het
Eif2ak3	T	A	6: 70,841,511 (GRCm39)	C152*	probably null	Het
Eln	T	G	5: 134,755,331 (GRCm39)	K241Q	unknown	Het
Exoc6b	C	T	6: 84,602,106 (GRCm39)		probably null	Het
Fbxo39	A	G	11: 72,208,101 (GRCm39)	K151R	probably benign	Het
Fer	A	G	17: 64,214,327 (GRCm39)	T87A	probably benign	Het
Fgf4	A	T	7: 144,415,335 (GRCm39)	N32Y	possibly damaging	Het
Fkbp6	G	A	5: 135,375,027 (GRCm39)	P129S	probably damaging	Het
Fndc7	C	A	3: 108,774,597 (GRCm39)	V554F	probably damaging	Het
Frk	G	A	10: 34,481,873 (GRCm39)		probably null	Het
Ghrhr	T	A	6: 55,357,786 (GRCm39)	I139N	possibly damaging	Het
Gm17175	A	T	14: 51,809,099 (GRCm39)	M89K	probably damaging	Het
Gm4787	A	T	12: 81,425,086 (GRCm39)	N357K	probably benign	Het
Gpihbp1	G	A	15: 75,469,612 (GRCm39)	C109Y	probably damaging	Het
Gps1	T	C	11: 120,677,641 (GRCm39)	V257A	probably benign	Het
H2-M3	T	C	17: 37,581,159 (GRCm39)	S3P	probably benign	Het
Hmcn1	G	A	1: 150,475,303 (GRCm39)	P4674L	probably damaging	Het
Hoxa11	T	C	6: 52,222,224 (GRCm39)	D159G	probably benign	Het
Kcnn4	G	A	7: 24,083,503 (GRCm39)	D395N	probably damaging	Het
Krt222	T	C	11: 99,126,981 (GRCm39)	E213G	probably damaging	Het
Lmcd1	A	G	6: 112,306,785 (GRCm39)	D319G	possibly damaging	Het
Ltv1	A	G	10: 13,066,440 (GRCm39)	F62S	probably damaging	Het
Man2a1	G	T	17: 65,041,953 (GRCm39)	R957L	probably damaging	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mrpl45	T	G	11: 97,217,687 (GRCm39)	V197G	probably damaging	Het
Ndn	C	T	7: 61,998,337 (GRCm39)	P61L	possibly damaging	Het
Nek4	T	C	14: 30,675,904 (GRCm39)	Y73H	probably damaging	Het
Nom1	T	A	5: 29,642,750 (GRCm39)	V417D	probably damaging	Het
Or10q1b	A	T	19: 13,682,868 (GRCm39)	I226F	probably damaging	Het
Or4k5	A	G	14: 50,386,055 (GRCm39)	I92T	probably benign	Het
Or5p68	A	G	7: 107,945,513 (GRCm39)	L225P	probably damaging	Het
Pacs1	A	G	19: 5,193,862 (GRCm39)	S556P	probably damaging	Het
Pcdh1	C	T	18: 38,330,904 (GRCm39)	V839M	possibly damaging	Het
Pcdhb18	T	A	18: 37,623,694 (GRCm39)	N341K	probably damaging	Het
Pde6d	G	A	1: 86,473,424 (GRCm39)	T124M	possibly damaging	Het
Piezo2	T	A	18: 63,280,016 (GRCm39)	E185V	probably benign	Het
Pkhd1l1	T	C	15: 44,442,029 (GRCm39)	V3656A	possibly damaging	Het
Plcg1	A	G	2: 160,597,671 (GRCm39)	Y771C	probably benign	Het
Ppdpf	T	C	2: 180,829,668 (GRCm39)	L41P	probably benign	Het
Prepl	T	C	17: 85,376,321 (GRCm39)	T578A	probably benign	Het
Prkdc	C	A	16: 15,548,334 (GRCm39)	L1981M	possibly damaging	Het
Prkdc	T	A	16: 15,548,335 (GRCm39)	L1981Q	probably damaging	Het
Rb1cc1	C	T	1: 6,318,528 (GRCm39)	S649L	probably benign	Het
Rbbp6	A	G	7: 122,591,268 (GRCm39)	T457A	possibly damaging	Het
Sbf1	T	A	15: 89,191,808 (GRCm39)		probably null	Het
Scn1a	T	C	2: 66,152,687 (GRCm39)	I776V	probably benign	Het
Sec23a	G	A	12: 59,019,804 (GRCm39)	P588S	probably benign	Het
Slfn5	A	G	11: 82,851,830 (GRCm39)	D652G	possibly damaging	Het
Slfn5	C	A	11: 82,852,321 (GRCm39)	P816T	probably benign	Het
Smarcad1	C	T	6: 65,091,318 (GRCm39)	T1013I	probably damaging	Het
Spidr	G	A	16: 15,855,474 (GRCm39)	T347I	probably benign	Het
Stx1b	A	T	7: 127,406,551 (GRCm39)	M266K	probably damaging	Het
Tarm1	A	G	7: 3,551,062 (GRCm39)		probably benign	Het
Tfap2c	A	T	2: 172,391,764 (GRCm39)	K4*	probably null	Het
Trpm5	A	T	7: 142,633,148 (GRCm39)	V819E	possibly damaging	Het
Trrap	A	G	5: 144,780,128 (GRCm39)	T3240A	possibly damaging	Het
Uqcc2	A	T	17: 27,341,709 (GRCm39)	V130D	probably benign	Het
Uspl1	T	A	5: 149,151,870 (GRCm39)	D1023E	probably benign	Het
Vinac1	C	T	2: 128,878,550 (GRCm39)	W1125*	probably null	Het
Vmn2r28	A	T	7: 5,491,220 (GRCm39)	H342Q	probably benign	Het
Vmn2r33	A	T	7: 7,557,153 (GRCm39)	C516S	possibly damaging	Het
Vps45	G	A	3: 95,940,982 (GRCm39)	R420W	probably damaging	Het
Zfp42	C	T	8: 43,749,172 (GRCm39)	V110I	possibly damaging	Het
Zfp467	T	A	6: 48,404,776 (GRCm39)	K100N	unknown	Het
Zfyve16	A	T	13: 92,636,788 (GRCm39)	S1307R	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
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
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'- GTCTTAAACTAACACCAGTCGATG -3'
(R):5'- AGGAGGTGTCAAGTCGTTAGC -3'

Sequencing Primer
(F):5'- GATAATCCAGTAATATGGGAGTCCC -3'
(R):5'- GTCGTTAGCACATTAAATAGTGGTG -3'

Posted On

2022-09-12