Mutagenetix > Incidental Mutation

Incidental Mutation 'R7624:Eya3'

589308

Institutional Source

Beutler Lab

Gene Symbol

Eya3

Ensembl Gene

ENSMUSG00000028886

Gene Name

EYA transcriptional coactivator and phosphatase 3

Synonyms

MMRRC Submission

045689-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.780) question?

Stock #

R7624 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

132366303-132452076 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 132400262 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 94 (T94A)

Ref Sequence

ENSEMBL: ENSMUSP00000080425 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020197] [ENSMUST00000079157] [ENSMUST00000081726] [ENSMUST00000135299] [ENSMUST00000180250]

AlphaFold

P97480

Predicted Effect

probably benign
Transcript: ENSMUST00000020197

SMART Domains

Protein: ENSMUSP00000020197
Gene: ENSMUSG00000028886

Domain	Start	End	E-Value	Type
low complexity region	19	38	N/A	INTRINSIC
low complexity region	71	83	N/A	INTRINSIC
low complexity region	98	109	N/A	INTRINSIC
PDB:4EGC\|B	132	416	1e-136	PDB

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079157
AA Change: T78A

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000078157
Gene: ENSMUSG00000028886
AA Change: T78A

Domain	Start	End	E-Value	Type
low complexity region	72	89	N/A	INTRINSIC
low complexity region	113	132	N/A	INTRINSIC
low complexity region	165	177	N/A	INTRINSIC
low complexity region	192	203	N/A	INTRINSIC
PDB:4EGC\|B	226	510	1e-135	PDB
SCOP:d1lvha_	345	507	8e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000081726
AA Change: T94A

PolyPhen 2 Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000080425
Gene: ENSMUSG00000028886
AA Change: T94A

Domain	Start	End	E-Value	Type
low complexity region	88	105	N/A	INTRINSIC
low complexity region	129	148	N/A	INTRINSIC
low complexity region	181	193	N/A	INTRINSIC
low complexity region	208	219	N/A	INTRINSIC
Pfam:Hydrolase	256	502	5.5e-11	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000135299
AA Change: T94A

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

SMART Domains

Protein: ENSMUSP00000123045
Gene: ENSMUSG00000028886
AA Change: T94A

Domain	Start	End	E-Value	Type
low complexity region	88	105	N/A	INTRINSIC
low complexity region	175	194	N/A	INTRINSIC
low complexity region	227	239	N/A	INTRINSIC
low complexity region	254	265	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000180250

SMART Domains

Protein: ENSMUSP00000136812
Gene: ENSMUSG00000028886

Domain	Start	End	E-Value	Type
low complexity region	19	38	N/A	INTRINSIC
low complexity region	71	83	N/A	INTRINSIC
low complexity region	98	109	N/A	INTRINSIC
PDB:4EGC\|B	132	416	1e-136	PDB

Meta Mutation Damage Score

0.1312

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (69/70)

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 act as a transcriptional activator and have a role during development. It can act as a mediator of chemoresistance and cell survival in Ewing sarcoma cells, where this gene is up-regulated via a micro-RNA that binds to the 3' UTR of the transcript. A similar protein in mice acts as a transcriptional activator. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2013]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit abnormal heart function, decreased grip strength and increased exploratory behavior. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atm	C	A	9: 53,366,068 (GRCm39)	R2533L	probably damaging	Het
Caprin1	T	A	2: 103,603,022 (GRCm39)	M514L	possibly damaging	Het
Ccdc78	A	G	17: 26,006,126 (GRCm39)	E98G	probably damaging	Het
Cmya5	A	T	13: 93,226,865 (GRCm39)	M2741K	possibly damaging	Het
Cnot1	T	G	8: 96,478,447 (GRCm39)	R959S	probably damaging	Het
Col12a1	G	T	9: 79,553,076 (GRCm39)		probably null	Het
Col4a3	A	G	1: 82,696,605 (GRCm39)	T177A	probably benign	Het
Cpa3	T	C	3: 20,279,307 (GRCm39)	N211D	possibly damaging	Het
Cripto	C	T	9: 110,775,017 (GRCm39)		probably benign	Het
Cryba1	T	C	11: 77,613,543 (GRCm39)	Y36C	probably damaging	Het
Ctnna1	T	A	18: 35,377,897 (GRCm39)	I632N	probably benign	Het
D630045J12Rik	T	C	6: 38,126,498 (GRCm39)	N1504S	probably damaging	Het
Dgkz	C	A	2: 91,773,019 (GRCm39)	R346L	probably damaging	Het
Dnajc21	G	A	15: 10,461,318 (GRCm39)	R211C	probably benign	Het
Dnajc21	A	T	15: 10,461,320 (GRCm39)	I210N	probably damaging	Het
Dscam	T	C	16: 96,411,524 (GRCm39)	D1784G	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fat3	T	C	9: 15,871,165 (GRCm39)	D3742G	possibly damaging	Het
Ficd	T	C	5: 113,876,751 (GRCm39)	F309L	probably benign	Het
Gfra1	A	T	19: 58,226,878 (GRCm39)	M451K	probably benign	Het
Gm43517	T	A	12: 49,437,961 (GRCm39)	L318Q		Het
Gsc	A	T	12: 104,439,310 (GRCm39)	V22E	possibly damaging	Het
Il4ra	T	C	7: 125,168,280 (GRCm39)	Y100H	probably damaging	Het
Ilf3	T	C	9: 21,309,340 (GRCm39)	S486P	probably benign	Het
Itga10	T	A	3: 96,560,269 (GRCm39)	H594Q	probably benign	Het
Kcnf1	T	C	12: 17,226,137 (GRCm39)	D28G	probably benign	Het
Kiss1	A	G	1: 133,257,160 (GRCm39)	K53R	possibly damaging	Het
Lcn5	A	G	2: 25,551,426 (GRCm39)	I182V	probably benign	Het
Lcorl	T	C	5: 45,859,307 (GRCm39)	D269G	probably benign	Het
Letm2	A	T	8: 26,082,553 (GRCm39)	C174*	probably null	Het
Met	T	G	6: 17,558,834 (GRCm39)	V1154G	probably damaging	Het
Mindy3	A	G	2: 12,424,000 (GRCm39)	S22P	probably benign	Het
Mroh2b	G	A	15: 4,946,613 (GRCm39)	R471Q	probably damaging	Het
Nfe2l3	T	C	6: 51,435,252 (GRCm39)	L604P	probably damaging	Het
Or12e10	A	G	2: 87,640,683 (GRCm39)	Q173R	probably damaging	Het
Or14a256	A	G	7: 86,265,769 (GRCm39)	F28S	possibly damaging	Het
Or5h18	T	A	16: 58,847,382 (GRCm39)	Q296L	possibly damaging	Het
Or8b3b	C	T	9: 38,583,919 (GRCm39)	V274I	probably benign	Het
Or8u9	A	T	2: 86,001,564 (GRCm39)	I199N	possibly damaging	Het
Or9r7	A	C	10: 129,962,455 (GRCm39)	I157S	probably damaging	Het
Pcdha9	T	A	18: 37,132,849 (GRCm39)	Y639*	probably null	Het
Pom121l2	A	T	13: 22,167,699 (GRCm39)	I657L	probably damaging	Het
Prr14l	T	A	5: 32,986,967 (GRCm39)	T843S	possibly damaging	Het
Rln1	A	T	19: 29,309,499 (GRCm39)	N93K	probably damaging	Het
Rpl3l	A	T	17: 24,951,401 (GRCm39)	M101L	probably benign	Het
Rtkn	A	G	6: 83,129,158 (GRCm39)	Y551C	probably benign	Het
Rundc1	G	C	11: 101,324,305 (GRCm39)	R337P	possibly damaging	Het
Scarf1	T	A	11: 75,405,242 (GRCm39)		probably null	Het
Serpinb1b	T	A	13: 33,275,622 (GRCm39)		probably null	Het
Sgsm1	A	T	5: 113,422,201 (GRCm39)	C484*	probably null	Het
Slc22a19	T	A	19: 7,650,668 (GRCm39)	K547*	probably null	Het
Slc22a19	T	C	19: 7,671,183 (GRCm39)	T177A	probably benign	Het
Slc6a5	A	C	7: 49,591,614 (GRCm39)	K526N	probably benign	Het
Sqle	G	A	15: 59,202,603 (GRCm39)	R519Q	probably benign	Het
Stard9	T	C	2: 120,518,627 (GRCm39)	I517T	probably benign	Het
Taf15	A	T	11: 83,395,849 (GRCm39)	D518V	unknown	Het
Tenm4	A	G	7: 96,545,192 (GRCm39)	M2440V	possibly damaging	Het
Tm6sf1	A	G	7: 81,518,458 (GRCm39)	M122V	possibly damaging	Het
Tmprss9	T	A	10: 80,728,053 (GRCm39)	S548T	possibly damaging	Het
Trim62	A	T	4: 128,777,471 (GRCm39)		probably benign	Het
Ugt2b34	C	T	5: 87,039,141 (GRCm39)	V507M	possibly damaging	Het
Usp16	T	A	16: 87,273,693 (GRCm39)	M423K	probably benign	Het
Vmn1r199	T	A	13: 22,566,906 (GRCm39)	S67T	probably benign	Het
Vmn1r62	A	T	7: 5,678,600 (GRCm39)	M94L	probably benign	Het
Wnk4	G	T	11: 101,155,180 (GRCm39)	E364*	probably null	Het
Xpo1	T	A	11: 23,232,584 (GRCm39)	I368N	probably damaging	Het
Zfp366	A	G	13: 99,382,804 (GRCm39)	T656A	probably benign	Het
Zfp934	T	C	13: 62,666,338 (GRCm39)	M113V	probably benign	Het
Zkscan2	A	G	7: 123,097,994 (GRCm39)	V134A	probably damaging	Het

Other mutations in Eya3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00479:Eya3	APN	4	132,431,709 (GRCm39)	missense	probably damaging	1.00
IGL01104:Eya3	APN	4	132,439,240 (GRCm39)	missense	probably damaging	1.00
IGL01109:Eya3	APN	4	132,420,311 (GRCm39)	nonsense	probably null
IGL01145:Eya3	APN	4	132,437,306 (GRCm39)	missense	probably damaging	1.00
IGL02364:Eya3	APN	4	132,437,366 (GRCm39)	missense	probably damaging	1.00
IGL03008:Eya3	APN	4	132,434,294 (GRCm39)	missense	probably damaging	1.00
IGL03144:Eya3	APN	4	132,420,453 (GRCm39)	missense	probably benign	0.07
IGL03176:Eya3	APN	4	132,439,233 (GRCm39)	missense	possibly damaging	0.90
R0279:Eya3	UTSW	4	132,446,558 (GRCm39)	missense	probably damaging	1.00
R0621:Eya3	UTSW	4	132,422,113 (GRCm39)	missense	probably benign	0.00
R0893:Eya3	UTSW	4	132,417,097 (GRCm39)	missense	probably benign	0.01
R1416:Eya3	UTSW	4	132,434,440 (GRCm39)	splice site	probably benign
R1834:Eya3	UTSW	4	132,434,429 (GRCm39)	missense	probably damaging	0.99
R1903:Eya3	UTSW	4	132,448,663 (GRCm39)	splice site	probably null
R4696:Eya3	UTSW	4	132,397,543 (GRCm39)	nonsense	probably null
R4739:Eya3	UTSW	4	132,448,698 (GRCm39)	utr 3 prime	probably benign
R4758:Eya3	UTSW	4	132,422,196 (GRCm39)	critical splice donor site	probably null
R5061:Eya3	UTSW	4	132,431,689 (GRCm39)	missense	probably damaging	1.00
R5411:Eya3	UTSW	4	132,417,090 (GRCm39)	missense	probably damaging	0.99
R5479:Eya3	UTSW	4	132,400,244 (GRCm39)	missense	possibly damaging	0.91
R6117:Eya3	UTSW	4	132,439,173 (GRCm39)	missense	probably damaging	1.00
R6343:Eya3	UTSW	4	132,400,221 (GRCm39)	missense	probably damaging	0.96
R6443:Eya3	UTSW	4	132,439,238 (GRCm39)	missense	probably damaging	1.00
R6460:Eya3	UTSW	4	132,408,174 (GRCm39)	missense	probably damaging	0.97
R7116:Eya3	UTSW	4	132,422,110 (GRCm39)	missense	probably benign	0.00
R7418:Eya3	UTSW	4	132,408,159 (GRCm39)	missense	possibly damaging	0.92
R7594:Eya3	UTSW	4	132,422,136 (GRCm39)	missense	probably benign
R7811:Eya3	UTSW	4	132,439,272 (GRCm39)	missense	possibly damaging	0.64
R9140:Eya3	UTSW	4	132,428,411 (GRCm39)	missense	possibly damaging	0.55
R9642:Eya3	UTSW	4	132,426,374 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCAAACTTGGGTTTTCTGACC -3'
(R):5'- CGTAACTTCTACCAAACGCTTAG -3'

Sequencing Primer
(F):5'- AAGTGAGCCACATATGGA -3'
(R):5'- CGCTTAGTAAGTAAATACTCCTCAC -3'

Posted On

2019-10-24