Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00811:Epha7'

10497

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 #

IGL00811

Quality Score

Status

Chromosome

Chromosomal Location

28813131-28967499 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 28961285 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103829 (fasta)

Gene Model

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

AlphaFold

Q61772

Predicted Effect

probably benign
Transcript: ENSMUST00000029964

SMART Domains

Protein: ENSMUSP00000029964
Gene: ENSMUSG00000028289

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: ENSMUST00000108191

SMART Domains

Protein: ENSMUSP00000103826
Gene: ENSMUSG00000028289

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

SMART Domains

Protein: ENSMUSP00000103829
Gene: ENSMUSG00000028289

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

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agps	T	C	2: 75,756,316 (GRCm39)	F649L	probably benign	Het
Agrn	A	T	4: 156,253,231 (GRCm39)	D1752E	possibly damaging	Het
Det1	A	G	7: 78,489,807 (GRCm39)	V406A	probably benign	Het
Dhx57	A	G	17: 80,560,672 (GRCm39)	V955A	probably damaging	Het
Dpep1	T	C	8: 123,926,354 (GRCm39)		probably benign	Het
Faim	G	A	9: 98,874,218 (GRCm39)	G15R	probably damaging	Het
Fbxl5	A	G	5: 43,915,567 (GRCm39)	L614P	probably damaging	Het
Fem1b	A	T	9: 62,704,201 (GRCm39)	V353D	probably damaging	Het
Fgf22	C	T	10: 79,592,724 (GRCm39)	P140S	probably damaging	Het
Ifi47	T	C	11: 48,986,244 (GRCm39)	F4L	probably benign	Het
Kmt2c	A	C	5: 25,579,531 (GRCm39)	S588R	possibly damaging	Het
Nmrk1	T	A	19: 18,622,511 (GRCm39)		probably benign	Het
Nomo1	C	T	7: 45,732,732 (GRCm39)	A1165V	possibly damaging	Het
Osmr	G	A	15: 6,845,147 (GRCm39)	T873I	probably benign	Het
Pclo	A	G	5: 14,730,024 (GRCm39)		probably benign	Het
Rims2	T	A	15: 39,155,544 (GRCm39)	M115K	probably damaging	Het
Rora	C	A	9: 69,278,572 (GRCm39)	T299K	probably benign	Het
Sema6d	C	A	2: 124,500,389 (GRCm39)	P386Q	probably damaging	Het
Slit2	G	A	5: 48,146,493 (GRCm39)	E95K	possibly damaging	Het
Sox18	T	C	2: 181,312,213 (GRCm39)	E306G	probably benign	Het
Sptlc1	C	A	13: 53,521,414 (GRCm39)	A121S	probably damaging	Het
Ssh2	C	T	11: 77,332,752 (GRCm39)	A411V	probably damaging	Het
Trim13	A	G	14: 61,842,306 (GRCm39)		probably null	Het
Vps13c	T	A	9: 67,855,463 (GRCm39)	N2509K	probably damaging	Het

Other mutations in Epha7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00849:Epha7	APN	4	28,870,662 (GRCm39)	missense	possibly damaging	0.63
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