Mutagenetix > Incidental Mutation

Incidental Mutation 'R5411:Eya3'

427461

Institutional Source

Beutler Lab

Gene Symbol

Eya3

Ensembl Gene

ENSMUSG00000028886

Gene Name

EYA transcriptional coactivator and phosphatase 3

Synonyms

MMRRC Submission

042980-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.766) question?

Stock #

R5411 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

132366303-132452076 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 132417090 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 130 (I130F)

Ref Sequence

ENSEMBL: ENSMUSP00000078157 (fasta)

Gene Model

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

AlphaFold

P97480

Predicted Effect

probably damaging
Transcript: ENSMUST00000020197
AA Change: I36F

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000020197
Gene: ENSMUSG00000028886
AA Change: I36F

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

probably damaging
Transcript: ENSMUST00000079157
AA Change: I130F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000078157
Gene: ENSMUSG00000028886
AA Change: I130F

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 damaging
Transcript: ENSMUST00000081726
AA Change: I146F

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000080425
Gene: ENSMUSG00000028886
AA Change: I146F

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

noncoding transcript
Transcript: ENSMUST00000127682

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134868

Predicted Effect

probably damaging
Transcript: ENSMUST00000135299
AA Change: I192F

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000123045
Gene: ENSMUSG00000028886
AA Change: I192F

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

noncoding transcript
Transcript: ENSMUST00000142301

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145668

Predicted Effect

probably damaging
Transcript: ENSMUST00000180250
AA Change: I36F

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000136812
Gene: ENSMUSG00000028886
AA Change: I36F

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

noncoding transcript
Transcript: ENSMUST00000142998

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157029

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

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 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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat1	C	A	9: 53,493,946 (GRCm39)	V392F	probably damaging	Het
Ache	C	T	5: 137,288,326 (GRCm39)	P11S	possibly damaging	Het
Ache	T	A	5: 137,288,692 (GRCm39)		probably null	Het
Acoxl	A	T	2: 127,696,821 (GRCm39)	H23L	probably benign	Het
Adamtsl1	G	A	4: 86,306,650 (GRCm39)		probably null	Het
Adar	T	A	3: 89,646,519 (GRCm39)	F45I	probably benign	Het
Adgrf4	A	C	17: 42,978,104 (GRCm39)	L413R	probably damaging	Het
Atp6v1g3	A	T	1: 138,215,627 (GRCm39)	I96F	probably benign	Het
Brsk2	T	C	7: 141,554,594 (GRCm39)	M653T	probably benign	Het
Cacna1s	G	T	1: 136,033,549 (GRCm39)	V1275L	probably benign	Het
Ces3b	T	C	8: 105,815,264 (GRCm39)	V5A	possibly damaging	Het
Chpt1	A	T	10: 88,312,969 (GRCm39)	I281N	probably damaging	Het
Col10a1	A	G	10: 34,270,553 (GRCm39)	E175G	probably damaging	Het
Col27a1	T	C	4: 63,142,902 (GRCm39)	S197P	probably damaging	Het
Csmd1	T	A	8: 15,960,471 (GRCm39)	R3315W	probably damaging	Het
Ctnna2	T	C	6: 77,091,914 (GRCm39)	E443G	probably damaging	Het
Dhx9	G	T	1: 153,356,969 (GRCm39)	S93R	probably benign	Het
Efcab8	A	G	2: 153,625,676 (GRCm39)	H112R	probably damaging	Het
Eif3d	A	T	15: 77,843,887 (GRCm39)	N486K	probably damaging	Het
Esp8	C	T	17: 40,840,909 (GRCm39)	R57*	probably null	Het
Fat2	G	T	11: 55,143,052 (GRCm39)	L4266I	probably benign	Het
Fras1	T	A	5: 96,793,019 (GRCm39)	D983E	probably benign	Het
Gcc2	T	C	10: 58,106,791 (GRCm39)	S640P	probably damaging	Het
Gys2	C	T	6: 142,394,147 (GRCm39)	G464R	probably damaging	Het
Heatr5a	G	A	12: 51,935,026 (GRCm39)	T1659I	probably damaging	Het
Il17ra	A	G	6: 120,458,403 (GRCm39)	D518G	probably damaging	Het
Kcnk13	A	G	12: 100,027,510 (GRCm39)	Y195C	probably damaging	Het
Kmt2a	T	A	9: 44,759,782 (GRCm39)	H722L	probably damaging	Het
Luzp1	C	A	4: 136,270,653 (GRCm39)	Q959K	possibly damaging	Het
Mep1b	T	A	18: 21,219,306 (GRCm39)	H153Q	probably damaging	Het
Mfsd13b	A	T	7: 120,599,346 (GRCm39)	I381F	probably benign	Het
Mvk	A	G	5: 114,597,034 (GRCm39)	T334A	probably benign	Het
Naa30	T	C	14: 49,425,008 (GRCm39)	V320A	probably damaging	Het
Naip5	C	T	13: 100,382,254 (GRCm39)	G152S	possibly damaging	Het
Neb	A	C	2: 52,185,384 (GRCm39)	S949R	probably damaging	Het
Nfya	A	T	17: 48,699,046 (GRCm39)	I214N	possibly damaging	Het
Nsf	G	T	11: 103,773,637 (GRCm39)	N292K	probably damaging	Het
Nup133	T	C	8: 124,653,945 (GRCm39)	T505A	probably benign	Het
Or4c1	A	C	2: 89,133,920 (GRCm39)	S5R	probably benign	Het
Or4p7	A	G	2: 88,221,605 (GRCm39)	T5A	probably benign	Het
Or5h24	T	A	16: 58,919,067 (GRCm39)	H96L	unknown	Het
Or9s23	A	T	1: 92,501,546 (GRCm39)	T218S	probably benign	Het
P4ha3	A	T	7: 99,943,022 (GRCm39)	R136W	probably damaging	Het
Parp12	A	G	6: 39,067,142 (GRCm39)	V550A	probably damaging	Het
Phf11a	T	C	14: 59,532,387 (GRCm39)	D16G	probably benign	Het
Pramel31	T	A	4: 144,088,207 (GRCm39)	M1K	probably null	Het
Rab3gap2	A	G	1: 185,009,342 (GRCm39)		probably null	Het
Sco1	A	G	11: 66,954,784 (GRCm39)	D263G	probably damaging	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,103,384 (GRCm39)		probably benign	Homo
Sfpq	T	A	4: 126,915,516 (GRCm39)	S103T	unknown	Het
Shisa7	G	A	7: 4,832,975 (GRCm39)	R263C	probably damaging	Het
Ssc4d	T	A	5: 135,992,254 (GRCm39)	D144V	probably benign	Het
Stxbp5l	G	A	16: 36,950,213 (GRCm39)	P1044L	probably damaging	Het
Tgm6	G	A	2: 129,987,116 (GRCm39)	R528Q	probably benign	Het
Tlr3	A	T	8: 45,849,992 (GRCm39)	H892Q	probably benign	Het
Tmc2	A	G	2: 130,082,035 (GRCm39)	H406R	probably damaging	Het
Tmtc1	A	T	6: 148,345,397 (GRCm39)		probably null	Het
Ttc19	A	G	11: 62,174,977 (GRCm39)	I139M	probably benign	Het
Utrn	G	A	10: 12,524,929 (GRCm39)	R2185C	probably benign	Het
Wdfy4	T	C	14: 32,681,959 (GRCm39)	N3004S	probably damaging	Het
Wdr3	C	A	3: 100,050,300 (GRCm39)	G746W	probably damaging	Het
Zfp335	T	A	2: 164,744,165 (GRCm39)	Q500L	probably damaging	Het
Zfp804b	A	T	5: 6,820,071 (GRCm39)	D961E	probably benign	Het
Zkscan16	CTTCAGCTTTCA	CTTCA	4: 58,956,745 (GRCm39)		probably null	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
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
R7624:Eya3	UTSW	4	132,400,262 (GRCm39)	missense	probably benign	0.41
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'- GTCTCCTTGCCAATATGTTCAG -3'
(R):5'- GCTGGGGTTAACAGATAATGCC -3'

Sequencing Primer
(F):5'- GCCAATATGTTCAGTTAAAACGGG -3'
(R):5'- GGTTAACAGATAATGCCTCAGAC -3'

Posted On

2016-09-01