Mutagenetix > Incidental Mutations

Incidental Mutation 'R0310:Epha7'

25112

Institutional Source

Beutler Lab

Gene Symbol

Epha7

Ensembl Gene

ENSMUSG00000028289

Gene Name

Eph receptor A7

Synonyms

Ehk3, Hek11, Cek11, MDK1, Ebk, Mdk1

MMRRC Submission

038520-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.685) question?

Stock #

R0310 (G1)

Quality Score

206

Status

Validated

Chromosome

Chromosomal Location

28813131-28967499 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28961301 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 845 (I845V)

Ref Sequence

ENSEMBL: ENSMUSP00000103826 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000029964
AA Change: I849V

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000029964
Gene: ENSMUSG00000028289
AA Change: I849V

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
AA Change: I845V

PolyPhen 2 Score 0.333 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000103826
Gene: ENSMUSG00000028289
AA Change: I845V

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

Meta Mutation Damage Score

0.1225

Coding Region Coverage

1x: 98.6%
3x: 97.3%
10x: 93.3%
20x: 82.5%

Validation Efficiency

99% (113/114)

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: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	A	C	9: 53,425,671	T92P	probably damaging	Het
9530053A07Rik	G	T	7: 28,142,274	V545L	probably benign	Het
Abca13	T	C	11: 9,293,810	V1891A	probably benign	Het
Abcc1	T	A	16: 14,410,927	I346N	probably damaging	Het
Afdn	G	T	17: 13,885,508		probably null	Het
Ahrr	G	A	13: 74,283,024		probably benign	Het
Akap13	A	G	7: 75,614,930	D507G	probably damaging	Het
Akap8	A	T	17: 32,316,260	M260K	possibly damaging	Het
Akr1b8	T	C	6: 34,365,259	V265A	probably benign	Het
Alpk3	C	G	7: 81,078,610	P496R	possibly damaging	Het
Ankrd13b	A	G	11: 77,472,745	V249A	possibly damaging	Het
Arid4a	T	C	12: 71,075,830	V995A	probably benign	Het
Ascc3	G	T	10: 50,748,926	V1637L	probably benign	Het
Atad2	G	A	15: 58,114,257	A499V	probably damaging	Het
Barhl2	G	T	5: 106,457,387	A152E	possibly damaging	Het
Bbs12	T	A	3: 37,321,045	D547E	probably damaging	Het
Btaf1	A	G	19: 37,004,534	M1655V	probably damaging	Het
Ccdc50	T	A	16: 27,406,658	H40Q	probably damaging	Het
Ccr9	A	T	9: 123,774,552		probably benign	Het
Cdh15	A	G	8: 122,865,436	D654G	probably damaging	Het
Cebpz	T	C	17: 78,926,124	D758G	probably damaging	Het
Cgn	C	T	3: 94,765,653	R906K	possibly damaging	Het
Chil3	T	A	3: 106,160,523	M109L	possibly damaging	Het
Cntnap4	A	T	8: 112,842,516		probably null	Het
Cyp4f18	C	T	8: 72,001,012		probably benign	Het
Daam2	A	G	17: 49,463,924		probably null	Het
Ddost	T	A	4: 138,310,611	H220Q	probably benign	Het
Dennd2a	C	T	6: 39,464,201		probably benign	Het
Depdc1b	G	A	13: 108,373,841	V296I	possibly damaging	Het
Dnah5	A	T	15: 28,299,110	R1539S	probably benign	Het
Dusp22	T	C	13: 30,705,658	I74T	probably damaging	Het
Dyx1c1	A	T	9: 72,972,336	D386V	probably damaging	Het
E130309D02Rik	G	T	5: 143,307,888	T278K	probably benign	Het
Epc1	A	G	18: 6,440,202		probably benign	Het
Fanci	C	T	7: 79,407,417		probably benign	Het
Fbn1	T	A	2: 125,363,644	E1104V	probably damaging	Het
Fbxo8	T	A	8: 56,590,097	F205L	probably damaging	Het
Fetub	T	C	16: 22,929,756		probably benign	Het
Frs3	T	C	17: 47,703,822	V480A	probably benign	Het
Gne	C	A	4: 44,060,157	E79*	probably null	Het
Hrc	T	A	7: 45,336,497	H357Q	probably benign	Het
Idh1	T	C	1: 65,161,920	M291V	probably damaging	Het
Iltifb	T	A	10: 118,293,185	H133L	probably benign	Het
Ino80b	T	C	6: 83,124,091	E165G	probably damaging	Het
Inppl1	A	T	7: 101,828,499		probably benign	Het
Ip6k2	T	C	9: 108,799,233		probably benign	Het
Itga11	A	T	9: 62,760,346	I654F	probably damaging	Het
Jag2	G	T	12: 112,913,377		probably benign	Het
Katna1	G	T	10: 7,743,749		probably benign	Het
Kcnh4	G	T	11: 100,746,169	S707Y	probably benign	Het
Kcnn2	T	G	18: 45,560,518	L387R	probably damaging	Het
Khnyn	A	G	14: 55,887,968	T503A	probably damaging	Het
Lama5	G	T	2: 180,181,566		probably benign	Het
Lmbr1l	A	T	15: 98,908,773		probably benign	Het
Mast4	A	T	13: 102,754,161	S870T	possibly damaging	Het
Med1	A	G	11: 98,167,574	Y266H	probably benign	Het
Med13	A	T	11: 86,346,003	N109K	probably benign	Het
Mgam	T	C	6: 40,761,035		probably benign	Het
Mmp8	A	G	9: 7,561,454	Q153R	probably benign	Het
Mpeg1	C	A	19: 12,461,691	T171N	probably benign	Het
Mtus2	T	C	5: 148,107,019	S806P	probably benign	Het
Naip2	T	A	13: 100,148,842	E1226V	probably damaging	Het
Naip6	A	G	13: 100,308,213	F246L	possibly damaging	Het
Nav3	T	C	10: 109,767,128	I1187V	possibly damaging	Het
Nbeal1	T	C	1: 60,305,370		probably benign	Het
Nbeal2	C	A	9: 110,638,163	V653L	probably damaging	Het
Ndufa9	G	T	6: 126,827,532		probably benign	Het
Nlrp5	G	T	7: 23,430,157	C883F	probably damaging	Het
Nr0b2	C	A	4: 133,555,992		probably null	Het
Olfr24	T	A	9: 18,755,333	M101L	possibly damaging	Het
Olfr799	T	A	10: 129,647,731	V201E	probably damaging	Het
Olfr822	G	A	10: 130,074,823	V138I	probably benign	Het
Olfr888	T	A	9: 38,109,486	S267T	possibly damaging	Het
Pkhd1	A	T	1: 20,549,822		probably null	Het
Pkhd1l1	A	G	15: 44,522,738		probably benign	Het
Ppm1l	A	G	3: 69,549,461	K237R	probably benign	Het
Ppp1r18	T	C	17: 35,873,711		probably benign	Het
Ptpn3	A	T	4: 57,204,958	D734E	probably benign	Het
Pxdn	T	C	12: 30,015,529	C1283R	probably damaging	Het
Rbm12	A	G	2: 156,095,724		probably benign	Het
Rttn	A	T	18: 89,009,460		probably benign	Het
Sgsm1	G	T	5: 113,263,705	H431Q	probably benign	Het
Siah3	A	G	14: 75,525,927	N206S	possibly damaging	Het
Slc22a15	G	T	3: 101,860,511	D521E	probably benign	Het
Sprr2k	A	T	3: 92,433,463		probably benign	Het
Stab2	G	A	10: 86,967,613		probably benign	Het
Sval3	T	A	6: 41,968,186	L16Q	probably damaging	Het
Sycp2	C	G	2: 178,381,855	S456T	probably benign	Het
Tk1	T	C	11: 117,817,095		probably benign	Het
Tlk2	C	A	11: 105,254,973	A335E	probably benign	Het
Tmtc1	T	C	6: 148,249,581	K659E	probably benign	Het
Tnk2	C	T	16: 32,680,590	P907L	probably benign	Het
Trim14	C	A	4: 46,522,043	K211N	probably damaging	Het
Trim15	A	C	17: 36,866,986	L39R	probably damaging	Het
Tspan15	T	A	10: 62,188,093	T269S	probably benign	Het
Ttc7	T	A	17: 87,361,864	D646E	probably benign	Het
Ttll6	A	T	11: 96,147,556	Q410L	probably benign	Het
Unc79	A	G	12: 103,061,407	Q419R	probably damaging	Het
Vcam1	A	T	3: 116,114,416	Y666N	possibly damaging	Het
Vmn1r10	A	T	6: 57,113,501	Y26F	probably damaging	Het
Vmn1r80	A	G	7: 12,193,848	N295S	probably benign	Het
Vmn2r114	A	T	17: 23,290,943	H854Q	probably benign	Het
Vmn2r2	A	T	3: 64,134,618	D225E	probably damaging	Het
Vmn2r4	A	T	3: 64,389,434	Y643*	probably null	Het
Vmn2r52	T	A	7: 10,159,466	Y582F	probably damaging	Het
Vmn2r60	G	T	7: 42,195,140	L642F	possibly damaging	Het
Zbtb20	T	C	16: 43,609,746	S207P	probably damaging	Het
Zic2	CCCACCACCACCATCACCACCACCACC	CCCACCATCACCACCACCACC	14: 122,476,364		probably benign	Het
Zkscan7	G	T	9: 122,888,893	E118*	probably null	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
IGL02524: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
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

Predicted Primers

PCR Primer
(F):5'- TGTGCCTCCTGGACCCCATAATAAC -3'
(R):5'- CCGAAAGCAATGCCTGTCTACCTG -3'

Sequencing Primer
(F):5'- CATTTTGCCTTCCAAGCAGTTC -3'
(R):5'- GGCACTTTCTGAGAAAGACATC -3'

Posted On

2013-04-16