Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00849:Epha7'

10494

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Epha7

Ensembl Gene

ENSMUSG00000028289

Gene Name

Eph receptor A7

Synonyms

Ehk3, MDK1, Cek11, Mdk1, Hek11, Ebk

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.548) question?

Stock #

IGL00849

Quality Score

Status

Chromosome

Chromosomal Location

28813131-28967499 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28870662 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 313 (E313G)

Ref Sequence

ENSEMBL: ENSMUSP00000103829 (fasta)

Gene Model

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

AlphaFold

Q61772

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029964
AA Change: E313G

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000029964
Gene: ENSMUSG00000028289
AA Change: E313G

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

possibly damaging
Transcript: ENSMUST00000080934
AA Change: E313G

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000079735
Gene: ENSMUSG00000028289
AA Change: E313G

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: E313G

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000103826
Gene: ENSMUSG00000028289
AA Change: E313G

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

possibly damaging
Transcript: ENSMUST00000108194
AA Change: E313G

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000103829
Gene: ENSMUSG00000028289
AA Change: E313G

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: ENSMUST00000129029

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129912

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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankdd1b	C	A	13: 96,557,241 (GRCm39)	E397D	probably damaging	Het
Arhgdia	C	A	11: 120,471,065 (GRCm39)	D45Y	probably damaging	Het
Cgas	G	A	9: 78,342,770 (GRCm39)	P344L	probably damaging	Het
Dbn1	G	T	13: 55,630,002 (GRCm39)	R147S	probably damaging	Het
Dip2a	A	T	10: 76,128,152 (GRCm39)	I36N	probably damaging	Het
Elmo1	A	T	13: 20,766,493 (GRCm39)	K607*	probably null	Het
Epha6	T	G	16: 60,245,474 (GRCm39)	I242L	possibly damaging	Het
Frmd4b	T	A	6: 97,285,021 (GRCm39)	I347F	probably damaging	Het
Gucy2c	T	C	6: 136,742,612 (GRCm39)	K242R	probably benign	Het
Kif1c	G	T	11: 70,596,953 (GRCm39)	L313F	probably damaging	Het
Ncoa6	T	A	2: 155,263,608 (GRCm39)	Q275H	possibly damaging	Het
Phf20l1	C	A	15: 66,508,681 (GRCm39)	P820T	probably benign	Het
Robo2	T	C	16: 73,770,665 (GRCm39)	T487A	possibly damaging	Het
Ryr2	G	T	13: 11,600,364 (GRCm39)	L4614I	possibly damaging	Het
Tbx19	T	A	1: 164,979,609 (GRCm39)	T187S	probably benign	Het
Tomm70a	T	C	16: 56,970,173 (GRCm39)		probably benign	Het
Tsnaxip1	G	T	8: 106,568,800 (GRCm39)	D430Y	probably damaging	Het
Uvssa	G	T	5: 33,566,192 (GRCm39)	G445V	probably benign	Het
Zfp628	C	A	7: 4,923,805 (GRCm39)	L676I	probably damaging	Het
Zfp871	A	G	17: 32,994,873 (GRCm39)	Y101H	probably benign	Het

Other mutations in Epha7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00811:Epha7	APN	4	28,961,285 (GRCm39)	intron	probably benign
IGL00898:Epha7	APN	4	28,938,693 (GRCm39)	missense	probably damaging	1.00
IGL02036:Epha7	APN	4	28,950,509 (GRCm39)	missense	probably damaging	1.00
IGL02227:Epha7	APN	4	28,821,587 (GRCm39)	missense	possibly damaging	0.85
IGL02237:Epha7	APN	4	28,949,325 (GRCm39)	splice site	probably null
IGL02376:Epha7	APN	4	28,951,287 (GRCm39)	missense	probably damaging	1.00
IGL02424:Epha7	APN	4	28,948,790 (GRCm39)	intron	probably benign
IGL02519:Epha7	APN	4	28,821,494 (GRCm39)	missense	possibly damaging	0.91
IGL02522:Epha7	APN	4	28,821,494 (GRCm39)	missense	possibly damaging	0.91
IGL02524:Epha7	APN	4	28,821,494 (GRCm39)	missense	possibly damaging	0.91
IGL02602:Epha7	APN	4	28,871,877 (GRCm39)	missense	possibly damaging	0.88
Pump	UTSW	4	28,871,937 (GRCm39)	missense	probably benign	0.07
PIT4514001:Epha7	UTSW	4	28,961,355 (GRCm39)	nonsense	probably null
R0001:Epha7	UTSW	4	28,961,279 (GRCm39)	intron	probably benign
R0011:Epha7	UTSW	4	28,962,564 (GRCm39)	missense	probably benign	0.03
R0011:Epha7	UTSW	4	28,962,564 (GRCm39)	missense	probably benign	0.03
R0310:Epha7	UTSW	4	28,961,301 (GRCm39)	missense	probably benign	0.33
R0373:Epha7	UTSW	4	28,935,700 (GRCm39)	splice site	probably null
R0496:Epha7	UTSW	4	28,821,292 (GRCm39)	missense	probably damaging	1.00
R0554:Epha7	UTSW	4	28,951,401 (GRCm39)	missense	probably damaging	1.00
R0632:Epha7	UTSW	4	28,821,104 (GRCm39)	missense	probably damaging	1.00
R1677:Epha7	UTSW	4	28,947,571 (GRCm39)	nonsense	probably null
R1883:Epha7	UTSW	4	28,950,362 (GRCm39)	missense	possibly damaging	0.58
R1919:Epha7	UTSW	4	28,963,969 (GRCm39)	missense	possibly damaging	0.48
R1952:Epha7	UTSW	4	28,950,474 (GRCm39)	missense	probably damaging	0.97
R1999:Epha7	UTSW	4	28,938,686 (GRCm39)	nonsense	probably null
R2187:Epha7	UTSW	4	28,942,648 (GRCm39)	missense	possibly damaging	0.63
R2308:Epha7	UTSW	4	28,821,503 (GRCm39)	missense	possibly damaging	0.91
R2417:Epha7	UTSW	4	28,947,579 (GRCm39)	missense	probably damaging	1.00
R3911:Epha7	UTSW	4	28,938,680 (GRCm39)	missense	probably benign	0.01
R4350:Epha7	UTSW	4	28,950,393 (GRCm39)	missense	probably damaging	0.98
R4688:Epha7	UTSW	4	28,821,367 (GRCm39)	missense	probably damaging	1.00
R4702:Epha7	UTSW	4	28,961,425 (GRCm39)	missense	probably damaging	1.00
R4957:Epha7	UTSW	4	28,871,892 (GRCm39)	missense	probably damaging	0.99
R5364:Epha7	UTSW	4	28,950,557 (GRCm39)	missense	probably damaging	1.00
R5661:Epha7	UTSW	4	28,946,217 (GRCm39)	splice site	probably null
R5820:Epha7	UTSW	4	28,949,365 (GRCm39)	missense	probably damaging	1.00
R6038:Epha7	UTSW	4	28,821,521 (GRCm39)	missense	probably damaging	1.00
R6038:Epha7	UTSW	4	28,821,521 (GRCm39)	missense	probably damaging	1.00
R6592:Epha7	UTSW	4	28,813,482 (GRCm39)	critical splice donor site	probably null
R6783:Epha7	UTSW	4	28,950,528 (GRCm39)	missense	possibly damaging	0.94
R6991:Epha7	UTSW	4	28,821,489 (GRCm39)	missense	probably damaging	1.00
R7152:Epha7	UTSW	4	28,935,826 (GRCm39)	missense	possibly damaging	0.94
R7232:Epha7	UTSW	4	28,951,279 (GRCm39)	missense	probably damaging	1.00
R7261:Epha7	UTSW	4	28,813,418 (GRCm39)	missense	probably benign	0.04
R7365:Epha7	UTSW	4	28,871,937 (GRCm39)	missense	probably benign	0.07
R7367:Epha7	UTSW	4	28,871,937 (GRCm39)	missense	probably benign	0.07
R7368:Epha7	UTSW	4	28,871,937 (GRCm39)	missense	probably benign	0.07
R7413:Epha7	UTSW	4	28,871,838 (GRCm39)	missense	probably benign	0.00
R7603:Epha7	UTSW	4	28,871,937 (GRCm39)	missense	probably benign	0.07
R7604:Epha7	UTSW	4	28,871,937 (GRCm39)	missense	probably benign	0.07
R7605:Epha7	UTSW	4	28,871,937 (GRCm39)	missense	probably benign	0.07
R7607:Epha7	UTSW	4	28,871,937 (GRCm39)	missense	probably benign	0.07
R7608:Epha7	UTSW	4	28,871,937 (GRCm39)	missense	probably benign	0.07
R7609:Epha7	UTSW	4	28,871,937 (GRCm39)	missense	probably benign	0.07
R7610:Epha7	UTSW	4	28,871,937 (GRCm39)	missense	probably benign	0.07
R8073:Epha7	UTSW	4	28,821,022 (GRCm39)	missense	probably damaging	1.00
R8263:Epha7	UTSW	4	28,821,149 (GRCm39)	missense	probably damaging	1.00
R8334:Epha7	UTSW	4	28,938,777 (GRCm39)	missense	probably benign	0.26
R8866:Epha7	UTSW	4	28,821,614 (GRCm39)	missense	probably benign	0.04
R8906:Epha7	UTSW	4	28,821,615 (GRCm39)	missense	probably damaging	0.98
R8914:Epha7	UTSW	4	28,963,892 (GRCm39)	missense	probably damaging	1.00
R9335:Epha7	UTSW	4	28,966,529 (GRCm39)	missense	probably benign	0.15
R9355:Epha7	UTSW	4	28,935,806 (GRCm39)	missense	probably damaging	1.00
R9576:Epha7	UTSW	4	28,870,659 (GRCm39)	missense	probably damaging	1.00
R9796:Epha7	UTSW	4	28,817,457 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06