Mutagenetix > Incidental Mutation

Incidental Mutation 'R7116:Eya3'

551758

Institutional Source

Beutler Lab

Gene Symbol

Eya3

Ensembl Gene

ENSMUSG00000028886

Gene Name

EYA transcriptional coactivator and phosphatase 3

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.798) question?

Stock #

R7116 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

132638987-132724765 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 132694799 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 228 (D228E)

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
AA Change: D118E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000020197
Gene: ENSMUSG00000028886
AA Change: D118E

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 benign
Transcript: ENSMUST00000079157
AA Change: D212E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000078157
Gene: ENSMUSG00000028886
AA Change: D212E

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: D228E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000080425
Gene: ENSMUSG00000028886
AA Change: D228E

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 benign
Transcript: ENSMUST00000135299
AA Change: D274E

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000123045
Gene: ENSMUSG00000028886
AA Change: D274E

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
AA Change: D118E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000136812
Gene: ENSMUSG00000028886
AA Change: D118E

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: 99.6%
20x: 98.8%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	A	G	12: 80,204,977	S109P	probably damaging	Het
Afg3l1	T	G	8: 123,489,862	L280R	probably damaging	Het
Akap13	T	A	7: 75,720,195	S129T	probably benign	Het
Ankrd11	A	G	8: 122,896,130	S328P	probably damaging	Het
Aox3	A	T	1: 58,153,530	E554D	probably benign	Het
Bcl11a	T	C	11: 24,163,839	V394A	probably damaging	Het
Cass4	A	G	2: 172,427,969	Y657C	unknown	Het
Ccdc88a	C	T	11: 29,504,051	A1738V	probably benign	Het
Cfap74	T	C	4: 155,455,061	F948L	unknown	Het
Chgb	A	T	2: 132,781,317		probably benign	Het
Coro1c	C	T	5: 113,852,206	W138*	probably null	Het
Dgkb	A	G	12: 37,981,990	Q17R	probably benign	Het
Esco2	A	G	14: 65,826,557	Y393H	probably damaging	Het
Fat2	T	C	11: 55,282,336	D2517G	probably damaging	Het
Fry	T	A	5: 150,395,869		probably null	Het
Gal3st2b	A	T	1: 93,940,776	Q243L	possibly damaging	Het
Gimap9	C	T	6: 48,678,055	A192V	probably benign	Het
Glg1	T	A	8: 111,178,957	Q564L	probably benign	Het
H2-Aa	A	T	17: 34,283,627	Y188*	probably null	Het
Hira	T	C	16: 18,912,114	Y188H	probably damaging	Het
Ighv8-8	C	T	12: 115,294,194	D76N	probably benign	Het
Irf6	T	C	1: 193,167,597	F276L	probably damaging	Het
Itpr1	T	C	6: 108,481,268	C2000R	probably damaging	Het
Jakmip3	T	C	7: 139,020,250	V293A	possibly damaging	Het
Kcnh7	A	G	2: 62,877,270	V132A	probably benign	Het
Kcnj1	A	G	9: 32,396,981	T234A	possibly damaging	Het
Kpna3	T	A	14: 61,368,186	N470I	probably benign	Het
Lamb2	T	C	9: 108,487,323	F1121L	probably damaging	Het
Lingo1	T	C	9: 56,620,627	D232G	probably benign	Het
Lpxn	T	A	19: 12,811,258	N70K	probably benign	Het
Ltbp4	T	A	7: 27,305,427	H1657L	probably damaging	Het
Luzp2	C	A	7: 55,265,330	F334L	possibly damaging	Het
Mgat5b	A	T	11: 116,944,959	S142C	possibly damaging	Het
Mroh7	G	A	4: 106,711,320	T396I	probably benign	Het
Muc5b	T	C	7: 141,863,750	S3478P	probably benign	Het
Nfatc2	A	T	2: 168,507,349	M626K	probably benign	Het
Nlrp14	A	G	7: 107,183,048	D484G	possibly damaging	Het
Npc1	T	C	18: 12,211,544	Y423C	probably damaging	Het
Nrsn1	A	G	13: 25,253,405	I180T	probably damaging	Het
Olfr570	T	A	7: 102,900,635	N89K	probably benign	Het
Olfr741	A	T	14: 50,485,568	I37F	probably benign	Het
Osbpl6	A	T	2: 76,595,881	I935F	probably benign	Het
Otog	T	C	7: 46,298,265	F96L	probably damaging	Het
Pde1b	T	C	15: 103,528,318	L534P	possibly damaging	Het
Pdzd8	C	T	19: 59,299,693	E1092K	probably damaging	Het
Pfkl	T	C	10: 78,001,415	H108R	probably benign	Het
Pkhd1l1	G	A	15: 44,557,976	V3047I	probably benign	Het
Plag1	A	T	4: 3,904,812	C126*	probably null	Het
Pphln1	T	A	15: 93,455,525	S229T	probably benign	Het
Pramel5	C	T	4: 144,273,881	D42N	possibly damaging	Het
Psd3	A	G	8: 67,713,738	V915A	probably benign	Het
Ptdss1	T	A	13: 66,945,327	I77N	probably benign	Het
Rsbn1	T	A	3: 103,914,576	C3*	probably null	Het
Shank1	C	T	7: 44,327,161	A561V	unknown	Het
Stip1	C	T	19: 7,021,810	G467S	possibly damaging	Het
Sv2c	A	T	13: 95,976,644	V599E	probably damaging	Het
Vmn2r37	T	C	7: 9,217,899	T322A	probably benign	Het
Vmn2r60	T	A	7: 42,137,063	M430K	probably benign	Het
Wipf3	T	A	6: 54,481,919		probably null	Het

Other mutations in Eya3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00479:Eya3	APN	4	132704398	missense	probably damaging	1.00
IGL01104:Eya3	APN	4	132711929	missense	probably damaging	1.00
IGL01109:Eya3	APN	4	132693000	nonsense	probably null
IGL01145:Eya3	APN	4	132709995	missense	probably damaging	1.00
IGL02364:Eya3	APN	4	132710055	missense	probably damaging	1.00
IGL03008:Eya3	APN	4	132706983	missense	probably damaging	1.00
IGL03144:Eya3	APN	4	132693142	missense	probably benign	0.07
IGL03176:Eya3	APN	4	132711922	missense	possibly damaging	0.90
R0279:Eya3	UTSW	4	132719247	missense	probably damaging	1.00
R0621:Eya3	UTSW	4	132694802	missense	probably benign	0.00
R0893:Eya3	UTSW	4	132689786	missense	probably benign	0.01
R1416:Eya3	UTSW	4	132707129	splice site	probably benign
R1834:Eya3	UTSW	4	132707118	missense	probably damaging	0.99
R1903:Eya3	UTSW	4	132721352	splice site	probably null
R4696:Eya3	UTSW	4	132670232	nonsense	probably null
R4739:Eya3	UTSW	4	132721387	utr 3 prime	probably benign
R4758:Eya3	UTSW	4	132694885	critical splice donor site	probably null
R5061:Eya3	UTSW	4	132704378	missense	probably damaging	1.00
R5411:Eya3	UTSW	4	132689779	missense	probably damaging	0.99
R5479:Eya3	UTSW	4	132672933	missense	possibly damaging	0.91
R6117:Eya3	UTSW	4	132711862	missense	probably damaging	1.00
R6343:Eya3	UTSW	4	132672910	missense	probably damaging	0.96
R6443:Eya3	UTSW	4	132711927	missense	probably damaging	1.00
R6460:Eya3	UTSW	4	132680863	missense	probably damaging	0.97
R7418:Eya3	UTSW	4	132680848	missense	possibly damaging	0.92
R7594:Eya3	UTSW	4	132694825	missense	probably benign
R7624:Eya3	UTSW	4	132672951	missense	probably benign	0.41
R7811:Eya3	UTSW	4	132711961	missense	possibly damaging	0.64
R9140:Eya3	UTSW	4	132701100	missense	possibly damaging	0.55
R9642:Eya3	UTSW	4	132699063	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGCCATTCTGGTTACTTGG -3'
(R):5'- CTCTTGGCCAATTAAATGCCCC -3'

Sequencing Primer
(F):5'- CCATTCTGGTTACTTGGGGGTCC -3'
(R):5'- TTAAATGCCCCCACAGGAATTC -3'

Posted On

2019-05-15