Mutagenetix > Incidental Mutations

Incidental Mutation 'PIT4585001:Epha3'

556633

Institutional Source

Beutler Lab

Gene Symbol

Epha3

Ensembl Gene

ENSMUSG00000052504

Gene Name

Eph receptor A3

Synonyms

Tyro4, End3, Cek4, Hek, Hek4, Mek4

Accession Numbers

Genbank: NM_010140; MGI: 99612

Is this an essential gene?

Possibly non essential (E-score: 0.441) question?

Stock #

PIT4585001 (G1)

Quality Score

120.008

Status

Not validated

Chromosome

Chromosomal Location

63543534-63864175 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 63566577 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000066554 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000064405

SMART Domains

Protein: ENSMUSP00000066554
Gene: ENSMUSG00000052504

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 null
Transcript: ENSMUST00000232049

Coding Region Coverage

1x: 93.6%
3x: 91.2%
10x: 86.5%
20x: 76.8%

Validation Efficiency

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aurka	T	C	2: 172,357,197	M318V	probably benign	Het
Cacna2d1	T	A	5: 16,326,344	D560E	probably damaging	Het
Ccdc148	T	A	2: 58,982,976	T202S	probably benign	Het
Ccdc155	C	T	7: 45,200,271	G76D	probably benign	Het
Cdc42bpb	T	C	12: 111,304,978	D1149G	probably damaging	Het
Clasp1	T	A	1: 118,462,555	N156K	probably damaging	Het
Cox18	G	A	5: 90,217,575	T255I	possibly damaging	Het
Cse1l	A	G	2: 166,941,474	T783A	probably damaging	Het
Dnajc16	T	C	4: 141,764,685	Y609C	probably damaging	Het
Doc2g	A	G	19: 4,006,630	T339A	probably benign	Het
Eif5a	T	C	11: 69,918,070		probably benign	Het
Esco1	A	T	18: 10,594,355	C310*	probably null	Het
Fam208b	G	A	13: 3,574,979	A1657V	possibly damaging	Het
Fam222a	A	G	5: 114,611,040	Y99C	probably damaging	Het
Fzd2	T	C	11: 102,605,747	L339P	probably damaging	Het
Gfral	A	T	9: 76,197,294	N145K	probably damaging	Het
Gga1	T	A	15: 78,893,790	N618K	probably benign	Het
Gpatch3	T	A	4: 133,583,086	H447Q	probably damaging	Het
Gpn1	A	T	5: 31,509,403	R346*	probably null	Het
Gsg1	T	C	6: 135,237,560	E317G	probably benign	Het
Gsk3b	A	G	16: 38,184,454	N129S	probably damaging	Het
Hmg20b	G	T	10: 81,348,955	D94E	possibly damaging	Het
Klhdc9	T	A	1: 171,359,818	H204L	possibly damaging	Het
Klhl24	A	G	16: 20,106,888	I55M	probably benign	Het
Kmt2c	T	C	5: 25,315,106	D2002G	probably benign	Het
Lama4	A	G	10: 39,074,746	N1015S	probably damaging	Het
Lpp	T	C	16: 24,761,947	C263R	probably benign	Het
Lrp1b	T	C	2: 41,269,204	I1689V		Het
Mipep	C	A	14: 60,784,835	Q50K	probably benign	Het
Mx1	T	C	16: 97,456,254	D101G	probably benign	Het
Nabp2	C	G	10: 128,408,807	E37Q	possibly damaging	Het
Nme6	A	G	9: 109,842,036	I115V	possibly damaging	Het
Nup93	A	T	8: 94,243,727	T85S	probably benign	Het
Oit3	T	A	10: 59,431,013	I224F	possibly damaging	Het
Parp14	T	C	16: 35,858,605	K331R	probably benign	Het
Pls1	T	A	9: 95,761,390	T519S	probably benign	Het
Rcn3	A	G	7: 45,086,694	F197L	probably benign	Het
Rnf213	C	T	11: 119,458,392	T3773I		Het
Rprd1b	A	T	2: 158,047,957	I153L	probably benign	Het
Scel	A	G	14: 103,592,368	D462G	possibly damaging	Het
Sh3bp1	C	T	15: 78,910,076	S548L	possibly damaging	Het
Sim1	T	A	10: 50,984,188	Y715*	probably null	Het
Slc18a2	A	T	19: 59,293,861	Q500L	possibly damaging	Het
Slc5a8	T	G	10: 88,886,503	M66R	probably damaging	Het
Slco1a6	T	C	6: 142,109,520	T233A	probably damaging	Het
Smu1	T	C	4: 40,739,623	T396A	probably benign	Het
Tas2r104	T	C	6: 131,685,558	T63A	possibly damaging	Het
Top2a	C	T	11: 99,001,373	A1088T	probably benign	Het
Ucp1	T	C	8: 83,293,948	F129S	probably damaging	Het
Unc13b	T	A	4: 43,091,298	D41E	probably benign	Het
Usp10	T	G	8: 119,954,892	V696G	probably benign	Het
Xylt2	C	T	11: 94,666,240	V745M	probably damaging	Het
Zbtb49	A	T	5: 38,216,476	N41K	probably damaging	Het
Zfp109	T	A	7: 24,229,354	D218V	probably benign	Het
Zfp420	G	A	7: 29,876,005	R550Q	probably benign	Het

Other mutations in Epha3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00773:Epha3	APN	16	63566684	missense	probably damaging	1.00
IGL01358:Epha3	APN	16	63595746	splice site	probably benign
IGL01713:Epha3	APN	16	63552562	missense	probably benign	0.00
IGL02371:Epha3	APN	16	63585020	critical splice acceptor site	probably null
IGL03111:Epha3	APN	16	63653446	missense	probably damaging	0.98
IGL03208:Epha3	APN	16	63611089	missense	probably damaging	1.00
laterality	UTSW	16	63568399	missense	probably damaging	1.00
midline	UTSW	16	63844144	missense	possibly damaging	0.46
stride	UTSW	16	63552494	missense	probably benign	0.00
F2404:Epha3	UTSW	16	63546168	missense	probably benign	0.14
P0041:Epha3	UTSW	16	63612868	missense	probably damaging	1.00
PIT4498001:Epha3	UTSW	16	63552526	missense	probably damaging	1.00
R0147:Epha3	UTSW	16	63612944	missense	possibly damaging	0.89
R0148:Epha3	UTSW	16	63612944	missense	possibly damaging	0.89
R0336:Epha3	UTSW	16	63566648	missense	probably damaging	1.00
R0738:Epha3	UTSW	16	63595612	missense	probably damaging	1.00
R0833:Epha3	UTSW	16	63603519	splice site	probably benign
R0836:Epha3	UTSW	16	63603519	splice site	probably benign
R0969:Epha3	UTSW	16	63566636	missense	probably damaging	1.00
R1160:Epha3	UTSW	16	63773068	missense	probably damaging	1.00
R1205:Epha3	UTSW	16	63598248	frame shift	probably null
R1349:Epha3	UTSW	16	63611053	missense	possibly damaging	0.89
R1372:Epha3	UTSW	16	63611053	missense	possibly damaging	0.89
R1469:Epha3	UTSW	16	63653494	missense	probably damaging	0.97
R1469:Epha3	UTSW	16	63653494	missense	probably damaging	0.97
R1500:Epha3	UTSW	16	63595662	missense	probably benign	0.06
R1523:Epha3	UTSW	16	63610948	missense	probably damaging	0.99
R1532:Epha3	UTSW	16	63546178	missense	probably benign	0.08
R1544:Epha3	UTSW	16	63773053	missense	probably damaging	1.00
R1681:Epha3	UTSW	16	63595728	missense	probably damaging	1.00
R1708:Epha3	UTSW	16	63583507	missense	probably damaging	1.00
R1803:Epha3	UTSW	16	63602288	missense	probably benign	0.00
R1893:Epha3	UTSW	16	63568399	missense	probably damaging	1.00
R1957:Epha3	UTSW	16	63772952	missense	probably benign	0.00
R2144:Epha3	UTSW	16	63773317	missense	possibly damaging	0.86
R2190:Epha3	UTSW	16	63546189	missense	probably benign	0.05
R2198:Epha3	UTSW	16	63844144	missense	possibly damaging	0.46
R2344:Epha3	UTSW	16	63652383	missense	possibly damaging	0.67
R2504:Epha3	UTSW	16	63603625	missense	probably damaging	0.97
R2911:Epha3	UTSW	16	63652412	missense	probably benign
R3889:Epha3	UTSW	16	63610964	missense	probably damaging	1.00
R4223:Epha3	UTSW	16	63583539	missense	probably damaging	0.99
R4836:Epha3	UTSW	16	63583557	missense	probably damaging	1.00
R4981:Epha3	UTSW	16	63652412	missense	probably benign	0.04
R5044:Epha3	UTSW	16	63602287	missense	possibly damaging	0.79
R5195:Epha3	UTSW	16	63546147	missense	possibly damaging	0.86
R5248:Epha3	UTSW	16	63598257	missense	probably damaging	1.00
R5478:Epha3	UTSW	16	63583533	missense	probably damaging	1.00
R6052:Epha3	UTSW	16	63603604	missense	possibly damaging	0.94
R6167:Epha3	UTSW	16	63612924	missense	probably benign	0.00
R6337:Epha3	UTSW	16	63568443	missense	probably damaging	1.00
R6342:Epha3	UTSW	16	63583500	missense	probably damaging	1.00
R6793:Epha3	UTSW	16	63773455	missense	probably benign	0.01
R6908:Epha3	UTSW	16	63598249	missense	probably damaging	1.00
R7029:Epha3	UTSW	16	63773335	missense	probably benign	0.37
R7059:Epha3	UTSW	16	63568455	missense	probably damaging	1.00
R7175:Epha3	UTSW	16	63583500	missense	probably damaging	1.00
R7204:Epha3	UTSW	16	63652332	missense	probably benign
R7217:Epha3	UTSW	16	63552494	missense	probably benign	0.00
R7315:Epha3	UTSW	16	63552609	missense	probably benign	0.00
R7389:Epha3	UTSW	16	63772984	missense	probably damaging	1.00
R7419:Epha3	UTSW	16	63598294	missense	probably damaging	1.00
R7572:Epha3	UTSW	16	63611080	nonsense	probably null
R7667:Epha3	UTSW	16	63566600	missense	probably benign	0.21
R7686:Epha3	UTSW	16	63773288	missense	probably damaging	1.00
R7855:Epha3	UTSW	16	63773560	missense	probably damaging	1.00
R8085:Epha3	UTSW	16	63583510	missense	probably damaging	1.00
R8167:Epha3	UTSW	16	63568441	missense	probably damaging	1.00
R8260:Epha3	UTSW	16	63583554	missense	probably damaging	1.00
R8290:Epha3	UTSW	16	63652496	missense	possibly damaging	0.94
R8298:Epha3	UTSW	16	63566598	missense	probably benign	0.16
R8350:Epha3	UTSW	16	63652490	missense	possibly damaging	0.91
R8450:Epha3	UTSW	16	63652490	missense	possibly damaging	0.91
R8470:Epha3	UTSW	16	63844147	missense	probably benign	0.00
R8478:Epha3	UTSW	16	63773081	missense	probably damaging	1.00
Z1176:Epha3	UTSW	16	63585012	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGACACTTCTAGCCAAGAATC -3'
(R):5'- AAACGCTGCTTCTCTCGTAG -3'

Sequencing Primer
(F):5'- ATGCGGTTTCTCCAGTTC -3'
(R):5'- CTGCTTCTCTCGTAGGTAATTAAGGC -3'

Posted On

2019-06-07