Mutagenetix > Incidental Mutation

Incidental Mutation 'R7365:Epha7'

571692

Institutional Source

Beutler Lab

Gene Symbol

Epha7

Ensembl Gene

ENSMUSG00000028289

Gene Name

Eph receptor A7

Synonyms

Ehk3, MDK1, Cek11, Mdk1, Hek11, Ebk

MMRRC Submission

045449-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.548) question?

Stock #

R7365 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

28813131-28967499 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 28871937 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 422 (S422L)

Ref Sequence

ENSEMBL: ENSMUSP00000029964 (fasta)

Gene Model

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

AlphaFold

Q61772

Predicted Effect

probably benign
Transcript: ENSMUST00000029964
AA Change: S422L

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000029964
Gene: ENSMUSG00000028289
AA Change: S422L

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: S422L

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000079735
Gene: ENSMUSG00000028289
AA Change: S422L

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

probably benign
Transcript: ENSMUST00000108191
AA Change: S422L

PolyPhen 2 Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000103826
Gene: ENSMUSG00000028289
AA Change: S422L

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: S422L

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000103829
Gene: ENSMUSG00000028289
AA Change: S422L

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

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (96/96)

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	T	C	5: 138,561,198 (GRCm39)	S155G	probably benign	Het
Abcc4	T	C	14: 118,865,066 (GRCm39)	N320S	probably damaging	Het
Akr1c19	G	A	13: 4,287,069 (GRCm39)	R96H	probably benign	Het
Ankrd17	T	C	5: 90,439,010 (GRCm39)	D451G	possibly damaging	Het
Ano8	T	A	8: 71,937,754 (GRCm39)	D36V	probably damaging	Het
Aqp3	A	G	4: 41,098,003 (GRCm39)	V36A	probably benign	Het
Atf7ip	A	G	6: 136,537,708 (GRCm39)	T314A	probably benign	Het
Atp2c1	A	T	9: 105,300,198 (GRCm39)	D700E	probably damaging	Het
Axin2	G	A	11: 108,830,202 (GRCm39)	V341M	possibly damaging	Het
Bin3	A	G	14: 70,371,976 (GRCm39)	Q139R	probably damaging	Het
Brca2	A	G	5: 150,455,802 (GRCm39)	D181G	probably damaging	Het
Capn3	A	G	2: 120,325,295 (GRCm39)	E466G	probably damaging	Het
Ccdc14	T	A	16: 34,543,989 (GRCm39)	Y830*	probably null	Het
Cdk12	T	C	11: 98,111,910 (GRCm39)	F723L	unknown	Het
Cep89	G	A	7: 35,129,353 (GRCm39)	R630H	probably damaging	Het
Cip2a	T	A	16: 48,822,016 (GRCm39)	S215T	probably benign	Het
Clca3a2	T	A	3: 144,804,545 (GRCm39)	I61F	probably damaging	Het
Clca4b	T	C	3: 144,628,529 (GRCm39)	T393A	not run	Het
Cldn5	G	A	16: 18,595,845 (GRCm39)	A34T	probably damaging	Het
Cobll1	A	T	2: 64,928,717 (GRCm39)	S870T	probably damaging	Het
Col12a1	T	C	9: 79,613,642 (GRCm39)	K68E	probably damaging	Het
Crnn	A	T	3: 93,055,841 (GRCm39)	Q209L	probably damaging	Het
Cwf19l1	A	T	19: 44,120,579 (GRCm39)	F45I	probably damaging	Het
Cyfip2	T	A	11: 46,098,267 (GRCm39)	K1052*	probably null	Het
D930020B18Rik	G	A	10: 121,503,716 (GRCm39)		probably null	Het
Dcc	G	A	18: 71,959,194 (GRCm39)	P193S	probably damaging	Het
Dda1	T	A	8: 71,927,137 (GRCm39)	C48S	probably benign	Het
Disc1	A	G	8: 125,881,780 (GRCm39)	R572G	probably damaging	Het
Dnah7a	A	T	1: 53,536,297 (GRCm39)	M2582K	probably benign	Het
Dsel	C	T	1: 111,789,303 (GRCm39)	G411S	probably damaging	Het
Dynlrb2	T	C	8: 117,241,696 (GRCm39)	V80A	probably benign	Het
Eif3a	A	T	19: 60,755,082 (GRCm39)	D1033E	unknown	Het
Enam	C	A	5: 88,649,347 (GRCm39)	H285Q	possibly damaging	Het
Ep400	T	C	5: 110,867,480 (GRCm39)	D980G	unknown	Het
Erc2	A	C	14: 27,762,346 (GRCm39)	D703A	probably damaging	Het
Ezh2	G	T	6: 47,510,692 (GRCm39)	S639*	probably null	Het
Fbn1	G	A	2: 125,193,969 (GRCm39)	H1333Y	probably damaging	Het
Flad1	A	G	3: 89,315,972 (GRCm39)	S197P	possibly damaging	Het
Foxl3	A	G	5: 138,806,736 (GRCm39)	H82R	probably damaging	Het
Gfm2	G	T	13: 97,279,529 (GRCm39)	C26F	probably benign	Het
Golga2	C	T	2: 32,193,013 (GRCm39)	Q444*	probably null	Het
Gp5	A	T	16: 30,127,426 (GRCm39)	V416D	probably damaging	Het
Gpat2	A	G	2: 127,268,901 (GRCm39)		probably null	Het
Gpr137c	A	G	14: 45,516,471 (GRCm39)	D353G	probably damaging	Het
Hoxa13	A	C	6: 52,236,862 (GRCm39)	W133G	probably damaging	Het
Hydin	A	T	8: 111,284,294 (GRCm39)	I3189F	probably damaging	Het
Hydin	A	T	8: 111,327,905 (GRCm39)	K4804M	probably damaging	Het
Ice2	T	C	9: 69,307,794 (GRCm39)	F26S	probably damaging	Het
Ints11	T	C	4: 155,956,687 (GRCm39)		probably null	Het
Ipo5	A	G	14: 121,157,497 (GRCm39)	I112V	probably benign	Het
Itgax	T	A	7: 127,734,481 (GRCm39)	S346R	probably damaging	Het
Kcnj13	T	A	1: 87,316,739 (GRCm39)	M125L	probably damaging	Het
Lmbrd1	T	A	1: 24,783,948 (GRCm39)	V359E	possibly damaging	Het
Lrrc7	T	G	3: 157,903,798 (GRCm39)	K287N	probably damaging	Het
Mau2	C	T	8: 70,481,884 (GRCm39)	A191T	possibly damaging	Het
Mkx	C	A	18: 7,000,747 (GRCm39)	R65L	possibly damaging	Het
Mroh4	T	A	15: 74,482,220 (GRCm39)	K746*	probably null	Het
Myh4	A	G	11: 67,133,674 (GRCm39)	T238A	probably damaging	Het
Nlrp9c	T	A	7: 26,070,822 (GRCm39)	N920Y	possibly damaging	Het
Nr4a3	T	G	4: 48,051,290 (GRCm39)	S15A	possibly damaging	Het
Ntn4	T	C	10: 93,480,666 (GRCm39)	L130P	probably damaging	Het
Or2ag13	A	G	7: 106,313,171 (GRCm39)	V239A	probably benign	Het
Or4a68	A	G	2: 89,270,542 (GRCm39)	V27A	probably benign	Het
Or4f59	A	T	2: 111,873,359 (GRCm39)	V6E	possibly damaging	Het
Or56a42-ps1	T	A	7: 104,777,552 (GRCm39)	I21F	probably benign	Het
Or8d23	A	T	9: 38,842,072 (GRCm39)	I202F	probably damaging	Het
Otog	T	C	7: 45,947,732 (GRCm39)	L110P	probably damaging	Het
Platr25	G	A	13: 62,848,719 (GRCm39)	H48Y	probably benign	Het
Plcxd2	T	C	16: 45,800,789 (GRCm39)	E145G	probably damaging	Het
Pltp	A	T	2: 164,696,242 (GRCm39)	N143K	probably damaging	Het
Pnpt1	T	C	11: 29,111,334 (GRCm39)	Y735H	probably damaging	Het
Prom1	A	G	5: 44,178,173 (GRCm39)	Y520H	probably damaging	Het
Rag2	A	G	2: 101,461,118 (GRCm39)	Y476C	probably damaging	Het
Rdh16f2	A	G	10: 127,712,893 (GRCm39)	Y297C	probably damaging	Het
Ryr1	T	C	7: 28,785,180 (GRCm39)	E1844G	probably benign	Het
Ryr2	A	G	13: 11,655,161 (GRCm39)	C3679R	probably damaging	Het
Sirt1	A	G	10: 63,157,782 (GRCm39)	I544T	probably benign	Het
Slc26a10	A	T	10: 127,012,716 (GRCm39)	I382N	possibly damaging	Het
Sox2	C	A	3: 34,705,121 (GRCm39)	P186Q	possibly damaging	Het
Spata31e5	A	T	1: 28,819,233 (GRCm39)	M16K	probably benign	Het
Tnpo3	A	G	6: 29,556,995 (GRCm39)	L752P	probably damaging	Het
Top2b	T	A	14: 16,416,649 (GRCm38)	N1136K	probably benign	Het
Tpsg1	G	T	17: 25,592,184 (GRCm39)	G86V	probably damaging	Het
Ttf2	C	A	3: 100,870,618 (GRCm39)	D152Y	possibly damaging	Het
Txndc15	T	C	13: 55,862,601 (GRCm39)	L4P	unknown	Het
Unc5a	T	C	13: 55,144,386 (GRCm39)	V237A	possibly damaging	Het
Urb1	CACTTAC	CAC	16: 90,569,461 (GRCm39)		probably benign	Het
Vav3	C	A	3: 109,535,415 (GRCm39)	P616T	possibly damaging	Het
Vmn2r15	T	A	5: 109,441,105 (GRCm39)	D251V	probably benign	Het
Vmn2r15	A	G	5: 109,445,388 (GRCm39)	L12S	probably benign	Het
Wfs1	A	C	5: 37,125,076 (GRCm39)	I605S	probably benign	Het
Wif1	G	A	10: 120,919,814 (GRCm39)	R187Q	possibly damaging	Het
Yipf1	A	G	4: 107,207,738 (GRCm39)		probably null	Het
Zdhhc20	G	T	14: 58,111,377 (GRCm39)	F74L	possibly damaging	Het
Zfp507	T	C	7: 35,475,843 (GRCm39)	T303A	unknown	Het
Zfp763	A	T	17: 33,252,352 (GRCm39)		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
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
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

Predicted Primers

PCR Primer
(F):5'- ATACTGTGTAAGCGGTGCAG -3'
(R):5'- TTTCCCCACCAGAACTATGGG -3'

Sequencing Primer
(F):5'- GCGGTGCAGTTGGGAAC -3'
(R):5'- CCAGAACTATGGGGATATTAAATGAC -3'

Posted On

2019-09-13