Mutagenetix > Incidental Mutation

Incidental Mutation 'R7811:Eya3'

601151

Institutional Source

Beutler Lab

Gene Symbol

Eya3

Ensembl Gene

ENSMUSG00000028886

Gene Name

EYA transcriptional coactivator and phosphatase 3

Synonyms

MMRRC Submission

045866-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.780) question?

Stock #

R7811 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

132366303-132452076 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 132439272 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 466 (I466T)

Ref Sequence

ENSEMBL: ENSMUSP00000080425 (fasta)

Gene Model

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

AlphaFold

P97480

Predicted Effect

probably damaging
Transcript: ENSMUST00000020197
AA Change: I356T

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000020197
Gene: ENSMUSG00000028886
AA Change: I356T

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: I450T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000078157
Gene: ENSMUSG00000028886
AA Change: I450T

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

possibly damaging
Transcript: ENSMUST00000081726
AA Change: I466T

PolyPhen 2 Score 0.637 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000080425
Gene: ENSMUSG00000028886
AA Change: I466T

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: ENSMUST00000180250
AA Change: I356T

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000136812
Gene: ENSMUSG00000028886
AA Change: I356T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (58/58)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,527,141 (GRCm39)		probably null	Het
Abca3	A	G	17: 24,616,362 (GRCm39)	T935A	probably benign	Het
Anxa7	A	T	14: 20,510,254 (GRCm39)	Y399N	probably benign	Het
Arhgef10l	G	T	4: 140,242,335 (GRCm39)	T1030K	possibly damaging	Het
Ass1	G	A	2: 31,404,753 (GRCm39)	V345I	probably benign	Het
Bms1	T	C	6: 118,380,099 (GRCm39)	D736G	probably damaging	Het
Bpifb1	T	A	2: 154,048,484 (GRCm39)		probably null	Het
Cbx4	A	C	11: 118,972,398 (GRCm39)	C326G	probably benign	Het
Ccdc188	A	G	16: 18,036,314 (GRCm39)	E94G	probably benign	Het
Cdh5	A	G	8: 104,852,235 (GRCm39)	T117A	possibly damaging	Het
Cdk11b	A	G	4: 155,724,359 (GRCm39)	T326A	unknown	Het
Clec5a	C	T	6: 40,558,867 (GRCm39)	C73Y	probably damaging	Het
Cntrl	T	C	2: 35,052,873 (GRCm39)	M1126T	probably benign	Het
Diaph3	T	C	14: 87,219,060 (GRCm39)	D455G	probably damaging	Het
Eml2	T	A	7: 18,920,047 (GRCm39)	M117K	probably benign	Het
Ern1	A	T	11: 106,325,694 (GRCm39)	V112D	unknown	Het
Fbxl6	T	C	15: 76,421,485 (GRCm39)		probably null	Het
Ffar1	A	G	7: 30,560,802 (GRCm39)	S32P	possibly damaging	Het
Fgb	T	C	3: 82,957,004 (GRCm39)	D22G	probably benign	Het
Fsip2	T	C	2: 82,828,797 (GRCm39)	Y6865H	possibly damaging	Het
Gbx1	T	C	5: 24,710,035 (GRCm39)	E270G	probably damaging	Het
Golga4	T	C	9: 118,361,643 (GRCm39)	L207P	probably damaging	Het
Hnrnpa1	T	C	15: 103,149,900 (GRCm39)	S54P	possibly damaging	Het
Htr4	A	G	18: 62,545,269 (GRCm39)	E18G	possibly damaging	Het
Ide	A	C	19: 37,307,910 (GRCm39)	L34R		Het
Ip6k3	A	T	17: 27,376,557 (GRCm39)	Y51*	probably null	Het
Keap1	A	G	9: 21,148,956 (GRCm39)	L17P	possibly damaging	Het
Lrrn2	T	C	1: 132,866,939 (GRCm39)	V668A	probably benign	Het
Lypd8	A	T	11: 58,281,064 (GRCm39)	T209S	possibly damaging	Het
Myo10	T	C	15: 25,804,610 (GRCm39)	I1635T	probably damaging	Het
Myo1e	T	A	9: 70,234,544 (GRCm39)	V299E	probably damaging	Het
Nadk	A	T	4: 155,661,332 (GRCm39)		probably benign	Het
Nalcn	A	T	14: 123,536,357 (GRCm39)	W1231R	probably damaging	Het
Odf2l	A	G	3: 144,859,148 (GRCm39)	T602A	probably benign	Het
Or13g1	T	A	7: 85,955,554 (GRCm39)	T256S	probably damaging	Het
Or2r3	T	A	6: 42,448,635 (GRCm39)	E159V	probably damaging	Het
Pde6c	T	C	19: 38,128,507 (GRCm39)	V190A	possibly damaging	Het
Ppp4r3a	C	A	12: 101,019,821 (GRCm39)	R378L	probably damaging	Het
Pus7l	A	C	15: 94,438,707 (GRCm39)	V46G	probably damaging	Het
Satb2	G	A	1: 56,884,880 (GRCm39)	S466L	probably benign	Het
Serpina6	A	G	12: 103,620,395 (GRCm39)	M118T	probably damaging	Het
Slc29a1	T	C	17: 45,897,189 (GRCm39)	R366G	probably damaging	Het
Slc6a1	T	C	6: 114,279,515 (GRCm39)	F98S	probably damaging	Het
Spg7	T	C	8: 123,824,164 (GRCm39)	I738T	possibly damaging	Het
Srcap	T	C	7: 127,141,221 (GRCm39)	V1667A	probably damaging	Het
Stxbp5	T	C	10: 9,684,248 (GRCm39)	N574S	probably benign	Het
Syne2	A	G	12: 76,030,501 (GRCm39)		probably null	Het
Tbc1d10a	T	C	11: 4,136,948 (GRCm39)	S54P	possibly damaging	Het
Trim12c	T	C	7: 103,990,469 (GRCm39)	N336S	unknown	Het
Ubap2	T	C	4: 41,211,710 (GRCm39)	S351G	probably benign	Het
Unc13c	G	T	9: 73,600,553 (GRCm39)	A1397E	possibly damaging	Het
Ush1c	G	A	7: 45,854,710 (GRCm39)	R681*	probably null	Het
Vmn2r57	A	T	7: 41,074,439 (GRCm39)	C541*	probably null	Het
Vmn2r73	T	C	7: 85,524,956 (GRCm39)	D64G	possibly damaging	Het
Vmn2r88	A	T	14: 51,656,160 (GRCm39)	T790S		Het
Zfp568	A	G	7: 29,697,295 (GRCm39)	T72A	possibly damaging	Het
Zfp950	A	T	19: 61,108,353 (GRCm39)	Y243*	probably null	Het
Zmym5	A	G	14: 57,036,434 (GRCm39)	S238P	probably damaging	Het
Zswim5	A	G	4: 116,734,673 (GRCm39)	E6G	unknown	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
R7624:Eya3	UTSW	4	132,400,262 (GRCm39)	missense	probably benign	0.41
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'- CATTGAGATACTAACGAGCTGAGTG -3'
(R):5'- AAAATGAGGCTGCTGCTGC -3'

Sequencing Primer
(F):5'- ATACTAACGAGCTGAGTGTTTGAG -3'
(R):5'- GAGGGAGGAACACATTTAACTAAC -3'

Posted On

2019-11-26