Mutagenetix > Incidental Mutation

Incidental Mutation 'P0041:Epha3'

15455

Institutional Source

Beutler Lab

Gene Symbol

Epha3

Ensembl Gene

ENSMUSG00000052504

Gene Name

Eph receptor A3

Synonyms

End3, Tyro4, Cek4, Hek, Hek4, Mek4

MMRRC Submission

038289-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.273) question?

Stock #

P0041 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

63363897-63684538 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 63433231 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 170 (E170D)

Ref Sequence

ENSEMBL: ENSMUSP00000155890 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064405] [ENSMUST00000232049] [ENSMUST00000232461] [ENSMUST00000232654]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000064405
AA Change: E471D

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

SMART Domains

Protein: ENSMUSP00000066554
Gene: ENSMUSG00000052504
AA Change: E471D

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
EPH_lbd	29	202	1.76e-127	SMART
Pfam:GCC2_GCC3	263	306	6.6e-9	PFAM
FN3	326	418	1.14e-5	SMART
FN3	437	518	4.8e-13	SMART
Pfam:EphA2_TM	543	619	8.2e-25	PFAM
TyrKc	622	879	5.16e-140	SMART
SAM	909	976	1.08e-13	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000232049
AA Change: E471D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000232461
AA Change: E170D

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000232654
AA Change: E471D

PolyPhen 2 Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)

Meta Mutation Damage Score

0.4840

Coding Region Coverage

1x: 86.7%
3x: 79.7%
10x: 43.1%
20x: 3.5%

Validation Efficiency

96% (69/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. This gene encodes a protein that binds ephrin-A ligands. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene usually die within 48 hours of birth of cardiac failure. Survivors develop normally with no indications of cardiac abnormalities. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Targeted, knock-out(1) Gene trapped(2)

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap1	A	G	2: 91,499,738 (GRCm39)	E291G	probably benign	Het
Atg5	A	C	10: 44,165,938 (GRCm39)	E63A	probably benign	Het
Clec4b2	A	G	6: 123,158,253 (GRCm39)	T40A	possibly damaging	Het
Colgalt1	A	G	8: 72,075,434 (GRCm39)	M447V	probably benign	Het
Dnai3	G	A	3: 145,786,997 (GRCm39)	S346F	possibly damaging	Het
Enpep	T	C	3: 129,125,847 (GRCm39)	D95G	possibly damaging	Het
Gm9900	A	T	11: 58,220,409 (GRCm39)	Y63*	probably null	Het
Gtf2i	C	T	5: 134,273,742 (GRCm39)		probably benign	Het
Klhl1	T	A	14: 96,517,647 (GRCm39)	N343I	probably damaging	Het
Large2	A	G	2: 92,197,599 (GRCm39)		probably benign	Het
Mobp	G	A	9: 119,997,083 (GRCm39)		probably benign	Het
Nek10	A	T	14: 14,861,603 (GRCm38)	H553L	probably benign	Het
Nploc4	A	T	11: 120,309,157 (GRCm39)	D148E	probably damaging	Het
Or1n1	T	C	2: 36,749,473 (GRCm39)	K296E	probably damaging	Het
Ppp1r3a	A	G	6: 14,719,696 (GRCm39)	I406T	probably benign	Het
Slc9c1	T	A	16: 45,370,524 (GRCm39)	M255K	possibly damaging	Het
Synrg	C	T	11: 83,873,137 (GRCm39)		probably benign	Het
Trak2	A	G	1: 58,949,123 (GRCm39)	V559A	probably damaging	Het
Trpm3	A	G	19: 22,875,050 (GRCm39)	D552G	probably benign	Het

Other mutations in Epha3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00773:Epha3	APN	16	63,387,047 (GRCm39)	missense	probably damaging	1.00
IGL01358:Epha3	APN	16	63,416,109 (GRCm39)	splice site	probably benign
IGL01713:Epha3	APN	16	63,372,925 (GRCm39)	missense	probably benign	0.00
IGL02371:Epha3	APN	16	63,405,383 (GRCm39)	critical splice acceptor site	probably null
IGL03111:Epha3	APN	16	63,473,809 (GRCm39)	missense	probably damaging	0.98
IGL03208:Epha3	APN	16	63,431,452 (GRCm39)	missense	probably damaging	1.00
laterality	UTSW	16	63,388,762 (GRCm39)	missense	probably damaging	1.00
midline	UTSW	16	63,664,507 (GRCm39)	missense	possibly damaging	0.46
stride	UTSW	16	63,372,857 (GRCm39)	missense	probably benign	0.00
F2404:Epha3	UTSW	16	63,366,531 (GRCm39)	missense	probably benign	0.14
PIT4498001:Epha3	UTSW	16	63,372,889 (GRCm39)	missense	probably damaging	1.00
PIT4585001:Epha3	UTSW	16	63,386,940 (GRCm39)	critical splice donor site	probably null
R0147:Epha3	UTSW	16	63,433,307 (GRCm39)	missense	possibly damaging	0.89
R0148:Epha3	UTSW	16	63,433,307 (GRCm39)	missense	possibly damaging	0.89
R0336:Epha3	UTSW	16	63,387,011 (GRCm39)	missense	probably damaging	1.00
R0738:Epha3	UTSW	16	63,415,975 (GRCm39)	missense	probably damaging	1.00
R0833:Epha3	UTSW	16	63,423,882 (GRCm39)	splice site	probably benign
R0836:Epha3	UTSW	16	63,423,882 (GRCm39)	splice site	probably benign
R0969:Epha3	UTSW	16	63,386,999 (GRCm39)	missense	probably damaging	1.00
R1160:Epha3	UTSW	16	63,593,431 (GRCm39)	missense	probably damaging	1.00
R1205:Epha3	UTSW	16	63,418,611 (GRCm39)	frame shift	probably null
R1349:Epha3	UTSW	16	63,431,416 (GRCm39)	missense	possibly damaging	0.89
R1372:Epha3	UTSW	16	63,431,416 (GRCm39)	missense	possibly damaging	0.89
R1469:Epha3	UTSW	16	63,473,857 (GRCm39)	missense	probably damaging	0.97
R1469:Epha3	UTSW	16	63,473,857 (GRCm39)	missense	probably damaging	0.97
R1500:Epha3	UTSW	16	63,416,025 (GRCm39)	missense	probably benign	0.06
R1523:Epha3	UTSW	16	63,431,311 (GRCm39)	missense	probably damaging	0.99
R1532:Epha3	UTSW	16	63,366,541 (GRCm39)	missense	probably benign	0.08
R1544:Epha3	UTSW	16	63,593,416 (GRCm39)	missense	probably damaging	1.00
R1681:Epha3	UTSW	16	63,416,091 (GRCm39)	missense	probably damaging	1.00
R1708:Epha3	UTSW	16	63,403,870 (GRCm39)	missense	probably damaging	1.00
R1803:Epha3	UTSW	16	63,422,651 (GRCm39)	missense	probably benign	0.00
R1893:Epha3	UTSW	16	63,388,762 (GRCm39)	missense	probably damaging	1.00
R1957:Epha3	UTSW	16	63,593,315 (GRCm39)	missense	probably benign	0.00
R2144:Epha3	UTSW	16	63,593,680 (GRCm39)	missense	possibly damaging	0.86
R2190:Epha3	UTSW	16	63,366,552 (GRCm39)	missense	probably benign	0.05
R2198:Epha3	UTSW	16	63,664,507 (GRCm39)	missense	possibly damaging	0.46
R2344:Epha3	UTSW	16	63,472,746 (GRCm39)	missense	possibly damaging	0.67
R2504:Epha3	UTSW	16	63,423,988 (GRCm39)	missense	probably damaging	0.97
R2911:Epha3	UTSW	16	63,472,775 (GRCm39)	missense	probably benign
R3889:Epha3	UTSW	16	63,431,327 (GRCm39)	missense	probably damaging	1.00
R4223:Epha3	UTSW	16	63,403,902 (GRCm39)	missense	probably damaging	0.99
R4836:Epha3	UTSW	16	63,403,920 (GRCm39)	missense	probably damaging	1.00
R4981:Epha3	UTSW	16	63,472,775 (GRCm39)	missense	probably benign	0.04
R5044:Epha3	UTSW	16	63,422,650 (GRCm39)	missense	possibly damaging	0.79
R5195:Epha3	UTSW	16	63,366,510 (GRCm39)	missense	possibly damaging	0.86
R5248:Epha3	UTSW	16	63,418,620 (GRCm39)	missense	probably damaging	1.00
R5478:Epha3	UTSW	16	63,403,896 (GRCm39)	missense	probably damaging	1.00
R6052:Epha3	UTSW	16	63,423,967 (GRCm39)	missense	possibly damaging	0.94
R6167:Epha3	UTSW	16	63,433,287 (GRCm39)	missense	probably benign	0.00
R6337:Epha3	UTSW	16	63,388,806 (GRCm39)	missense	probably damaging	1.00
R6342:Epha3	UTSW	16	63,403,863 (GRCm39)	missense	probably damaging	1.00
R6793:Epha3	UTSW	16	63,593,818 (GRCm39)	missense	probably benign	0.01
R6908:Epha3	UTSW	16	63,418,612 (GRCm39)	missense	probably damaging	1.00
R7029:Epha3	UTSW	16	63,593,698 (GRCm39)	missense	probably benign	0.37
R7059:Epha3	UTSW	16	63,388,818 (GRCm39)	missense	probably damaging	1.00
R7175:Epha3	UTSW	16	63,403,863 (GRCm39)	missense	probably damaging	1.00
R7204:Epha3	UTSW	16	63,472,695 (GRCm39)	missense	probably benign
R7217:Epha3	UTSW	16	63,372,857 (GRCm39)	missense	probably benign	0.00
R7315:Epha3	UTSW	16	63,372,972 (GRCm39)	missense	probably benign	0.00
R7389:Epha3	UTSW	16	63,593,347 (GRCm39)	missense	probably damaging	1.00
R7419:Epha3	UTSW	16	63,418,657 (GRCm39)	missense	probably damaging	1.00
R7572:Epha3	UTSW	16	63,431,443 (GRCm39)	nonsense	probably null
R7667:Epha3	UTSW	16	63,386,963 (GRCm39)	missense	probably benign	0.21
R7686:Epha3	UTSW	16	63,593,651 (GRCm39)	missense	probably damaging	1.00
R7855:Epha3	UTSW	16	63,593,923 (GRCm39)	missense	probably damaging	1.00
R8085:Epha3	UTSW	16	63,403,873 (GRCm39)	missense	probably damaging	1.00
R8167:Epha3	UTSW	16	63,388,804 (GRCm39)	missense	probably damaging	1.00
R8260:Epha3	UTSW	16	63,403,917 (GRCm39)	missense	probably damaging	1.00
R8290:Epha3	UTSW	16	63,472,859 (GRCm39)	missense	possibly damaging	0.94
R8298:Epha3	UTSW	16	63,386,961 (GRCm39)	missense	probably benign	0.16
R8350:Epha3	UTSW	16	63,472,853 (GRCm39)	missense	possibly damaging	0.91
R8450:Epha3	UTSW	16	63,472,853 (GRCm39)	missense	possibly damaging	0.91
R8470:Epha3	UTSW	16	63,664,510 (GRCm39)	missense	probably benign	0.00
R8478:Epha3	UTSW	16	63,593,444 (GRCm39)	missense	probably damaging	1.00
R8724:Epha3	UTSW	16	63,403,818 (GRCm39)	missense	probably damaging	1.00
R8862:Epha3	UTSW	16	63,431,348 (GRCm39)	missense	probably benign
R8921:Epha3	UTSW	16	63,472,838 (GRCm39)	missense	possibly damaging	0.81
R9519:Epha3	UTSW	16	63,472,668 (GRCm39)	missense	possibly damaging	0.77
R9563:Epha3	UTSW	16	63,366,510 (GRCm39)	missense	possibly damaging	0.86
R9795:Epha3	UTSW	16	63,372,910 (GRCm39)	missense	probably benign	0.00
Z1176:Epha3	UTSW	16	63,405,375 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-21