Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02524:Epha7'

296986

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Epha7

Ensembl Gene

ENSMUSG00000028289

Gene Name

Eph receptor A7

Synonyms

Ehk3, Hek11, Cek11, MDK1, Ebk, Mdk1

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.640) question?

Stock #

IGL02524

Quality Score

Status

Chromosome

Chromosomal Location

28813131-28967499 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 28821494 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 220 (T220S)

Ref Sequence

ENSEMBL: ENSMUSP00000103826 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029964] [ENSMUST00000080934] [ENSMUST00000108191] [ENSMUST00000108194]

Predicted Effect

probably benign
Transcript: ENSMUST00000029964
AA Change: T220S

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000029964
Gene: ENSMUSG00000028289
AA Change: T220S

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
EPH_lbd	32	205	3.24e-126	SMART
FN3	332	422	2.39e-8	SMART
FN3	443	524	3.12e-12	SMART
Pfam:EphA2_TM	557	630	4.4e-25	PFAM
TyrKc	633	890	8.84e-139	SMART
SAM	920	987	1.26e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000080934
AA Change: T220S

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000079735
Gene: ENSMUSG00000028289
AA Change: T220S

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
EPH_lbd	32	205	3.24e-126	SMART
FN3	332	422	2.39e-8	SMART
FN3	443	524	3.12e-12	SMART
transmembrane domain	556	578	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108191
AA Change: T220S

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103826
Gene: ENSMUSG00000028289
AA Change: T220S

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
EPH_lbd	32	205	3.24e-126	SMART
FN3	332	422	2.39e-8	SMART
FN3	443	524	3.12e-12	SMART
Pfam:EphA2_TM	556	626	2.9e-23	PFAM
TyrKc	629	886	8.84e-139	SMART
SAM	916	983	1.26e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108194
AA Change: T220S

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000103829
Gene: ENSMUSG00000028289
AA Change: T220S

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
EPH_lbd	32	205	3.24e-126	SMART
FN3	332	422	2.39e-8	SMART
FN3	443	524	3.12e-12	SMART
transmembrane domain	556	578	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136827

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149030

Coding Region Coverage

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. Increased expression of this gene is associated with multiple forms of carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
PHENOTYPE: Some homozygous mutants display anencephaly. Mutants also exhibit increased proliferation of neural progenitor cells in the lateral ventricle wall of the adult brain. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930415O20Rik	G	A	15: 98,571,125		probably null	Het
Abca8a	A	G	11: 110,078,815		probably benign	Het
Acvr1	T	C	2: 58,448,307		probably benign	Het
Asap3	A	T	4: 136,238,616	T453S	probably damaging	Het
Ccdc110	C	T	8: 45,941,942	P290L	probably benign	Het
Ccdc127	A	G	13: 74,352,897	N11S	probably damaging	Het
Cd80	T	C	16: 38,482,683	V164A	probably benign	Het
Ctnna3	T	C	10: 64,260,826	I381T	possibly damaging	Het
Etnppl	A	G	3: 130,630,671		probably benign	Het
Far2	T	A	6: 148,150,658	L145Q	probably damaging	Het
Fdxr	A	G	11: 115,271,260		probably null	Het
Jmy	A	G	13: 93,472,760	V347A	probably damaging	Het
Kcns2	A	G	15: 34,838,835	I115V	probably benign	Het
Kif2a	A	G	13: 106,964,355	L627S	possibly damaging	Het
Krtap26-1	A	G	16: 88,647,479	S85P	possibly damaging	Het
Ldlr	C	A	9: 21,733,681	D168E	probably damaging	Het
Lrrc8e	T	G	8: 4,235,392	L539R	probably damaging	Het
Mmp8	A	G	9: 7,560,505	E61G	probably damaging	Het
Msh2	T	C	17: 87,678,357	F121L	probably benign	Het
Myh4	A	G	11: 67,249,240	K638E	possibly damaging	Het
Ndufaf6	A	G	4: 11,059,091	F246S	probably benign	Het
Nynrin	C	T	14: 55,871,474	A1346V	possibly damaging	Het
Olfr1055	A	C	2: 86,347,342	C141W	probably damaging	Het
P2rx1	C	T	11: 73,009,648	P196L	probably damaging	Het
Pbx3	T	C	2: 34,370,818		probably benign	Het
Psen2	A	T	1: 180,245,667	S30T	probably benign	Het
Rack1	T	C	11: 48,803,471	V166A	probably benign	Het
Rpgrip1	A	G	14: 52,121,054	T206A	probably benign	Het
Rrp7a	A	G	15: 83,118,178		probably benign	Het
Slco1b2	C	T	6: 141,671,072	T377I	probably benign	Het
Sult2a6	A	T	7: 14,236,686	S162T	possibly damaging	Het
Syt2	A	G	1: 134,741,965	K115E	probably benign	Het
Tet1	A	G	10: 62,878,646	S457P	probably damaging	Het
Trbv3	A	G	6: 41,048,665	E63G	possibly damaging	Het
Unc13d	T	C	11: 116,070,319	Y404C	probably damaging	Het
Usp32	G	A	11: 85,010,011	R1128*	probably null	Het
Vps4a	G	A	8: 107,036,751		probably benign	Het
Ythdc2	T	A	18: 44,847,854	H505Q	probably damaging	Het
Ywhab	T	A	2: 164,016,137	L208Q	probably damaging	Het
Zfyve16	T	C	13: 92,504,514	K1241E	probably benign	Het

Other mutations in Epha7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00811:Epha7	APN	4	28961285	intron	probably benign
IGL00849:Epha7	APN	4	28870662	missense	possibly damaging	0.63
IGL00898:Epha7	APN	4	28938693	missense	probably damaging	1.00
IGL02036:Epha7	APN	4	28950509	missense	probably damaging	1.00
IGL02227:Epha7	APN	4	28821587	missense	possibly damaging	0.85
IGL02237:Epha7	APN	4	28949325	splice site	probably null
IGL02376:Epha7	APN	4	28951287	missense	probably damaging	1.00
IGL02424:Epha7	APN	4	28948790	intron	probably benign
IGL02519:Epha7	APN	4	28821494	missense	possibly damaging	0.91
IGL02522:Epha7	APN	4	28821494	missense	possibly damaging	0.91
IGL02602:Epha7	APN	4	28871877	missense	possibly damaging	0.88
PIT4514001:Epha7	UTSW	4	28961355	nonsense	probably null
R0001:Epha7	UTSW	4	28961279	intron	probably benign
R0011:Epha7	UTSW	4	28962564	missense	probably benign	0.03
R0011:Epha7	UTSW	4	28962564	missense	probably benign	0.03
R0310:Epha7	UTSW	4	28961301	missense	probably benign	0.33
R0373:Epha7	UTSW	4	28935700	splice site	probably null
R0496:Epha7	UTSW	4	28821292	missense	probably damaging	1.00
R0554:Epha7	UTSW	4	28951401	missense	probably damaging	1.00
R0632:Epha7	UTSW	4	28821104	missense	probably damaging	1.00
R1677:Epha7	UTSW	4	28947571	nonsense	probably null
R1883:Epha7	UTSW	4	28950362	missense	possibly damaging	0.58
R1919:Epha7	UTSW	4	28963969	missense	possibly damaging	0.48
R1952:Epha7	UTSW	4	28950474	missense	probably damaging	0.97
R1999:Epha7	UTSW	4	28938686	nonsense	probably null
R2187:Epha7	UTSW	4	28942648	missense	possibly damaging	0.63
R2308:Epha7	UTSW	4	28821503	missense	possibly damaging	0.91
R2417:Epha7	UTSW	4	28947579	missense	probably damaging	1.00
R3911:Epha7	UTSW	4	28938680	missense	probably benign	0.01
R4350:Epha7	UTSW	4	28950393	missense	probably damaging	0.98
R4688:Epha7	UTSW	4	28821367	missense	probably damaging	1.00
R4702:Epha7	UTSW	4	28961425	missense	probably damaging	1.00
R4957:Epha7	UTSW	4	28871892	missense	probably damaging	0.99
R5364:Epha7	UTSW	4	28950557	missense	probably damaging	1.00
R5661:Epha7	UTSW	4	28946217	intron	probably null
R5820:Epha7	UTSW	4	28949365	missense	probably damaging	1.00
R6038:Epha7	UTSW	4	28821521	missense	probably damaging	1.00
R6038:Epha7	UTSW	4	28821521	missense	probably damaging	1.00
R6592:Epha7	UTSW	4	28813482	critical splice donor site	probably null
R6783:Epha7	UTSW	4	28950528	missense	possibly damaging	0.94
R6991:Epha7	UTSW	4	28821489	missense	probably damaging	1.00
R7152:Epha7	UTSW	4	28935826	missense	possibly damaging	0.94
R7232:Epha7	UTSW	4	28951279	missense	probably damaging	1.00
R7261:Epha7	UTSW	4	28813418	missense	probably benign	0.04
R7365:Epha7	UTSW	4	28871937	missense	probably benign	0.07
R7367:Epha7	UTSW	4	28871937	missense	probably benign	0.07
R7368:Epha7	UTSW	4	28871937	missense	probably benign	0.07
R7413:Epha7	UTSW	4	28871838	missense	probably benign	0.00
R7603:Epha7	UTSW	4	28871937	missense	probably benign	0.07
R7604:Epha7	UTSW	4	28871937	missense	probably benign	0.07
R7605:Epha7	UTSW	4	28871937	missense	probably benign	0.07
R7607:Epha7	UTSW	4	28871937	missense	probably benign	0.07
R7608:Epha7	UTSW	4	28871937	missense	probably benign	0.07
R7609:Epha7	UTSW	4	28871937	missense	probably benign	0.07
R7610:Epha7	UTSW	4	28871937	missense	probably benign	0.07
R8073:Epha7	UTSW	4	28821022	missense	probably damaging	1.00

Posted On

2015-04-16