Mutagenetix > Incidental Mutation

Incidental Mutation 'R5552:Epha8'

435167

Institutional Source

Beutler Lab

Gene Symbol

Epha8

Ensembl Gene

ENSMUSG00000028661

Gene Name

Eph receptor A8

Synonyms

Eek, Hek3, EphA8

MMRRC Submission

043109-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5552 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

136656730-136684127 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 136659210 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 843 (N843S)

Ref Sequence

ENSEMBL: ENSMUSP00000030420 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030420]

AlphaFold

O09127

Predicted Effect

probably damaging
Transcript: ENSMUST00000030420
AA Change: N843S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030420
Gene: ENSMUSG00000028661
AA Change: N843S

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
EPH_lbd	30	203	2.59e-116	SMART
FN3	328	418	4.03e-6	SMART
FN3	439	520	1.67e-12	SMART
Pfam:EphA2_TM	542	631	5.8e-10	PFAM
TyrKc	634	891	1.03e-125	SMART
SAM	926	993	4.74e-19	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of 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. The protein encoded by this gene functions as a receptor for ephrin A2, A3 and A5 and plays a role in short-range contact-mediated axonal guidance during development of the mammalian nervous system. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for this targeted mutation are viable, fertile, and grossly normal but exhibit a commissural defect, whereby tectal axons fail to project from the superior colliculus of the midbrain to the contralateral inferior colliculus and instead project to the ipsilateral cervical spinal cord. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb1	A	G	6: 88,813,530 (GRCm39)	Y403H	probably benign	Het
Ankrd39	C	T	1: 36,581,062 (GRCm39)	G96R	probably damaging	Het
Arhgap19	T	C	19: 41,772,819 (GRCm39)	I291M	probably benign	Het
Blzf1	A	T	1: 164,130,058 (GRCm39)	I91N	probably damaging	Het
Cdh2	T	C	18: 16,773,520 (GRCm39)	T270A	possibly damaging	Het
Chd5	T	A	4: 152,470,272 (GRCm39)	M1906K	possibly damaging	Het
Cpsf1	T	C	15: 76,483,846 (GRCm39)	D799G	probably benign	Het
Csnk1g3	T	C	18: 54,065,355 (GRCm39)	F313L	probably benign	Het
Cyfip1	T	C	7: 55,521,855 (GRCm39)	V53A	possibly damaging	Het
Dcst1	T	C	3: 89,272,373 (GRCm39)	D30G	probably benign	Het
Dlgap2	G	T	8: 14,881,342 (GRCm39)	G805*	probably null	Het
Dot1l	CCAGCCCCACCCTCAGCC	CCAGCC	10: 80,619,462 (GRCm39)		probably benign	Het
Evi5	A	T	5: 107,966,855 (GRCm39)	V222E	probably damaging	Het
Gli1	C	A	10: 127,166,131 (GRCm39)	A1041S	probably benign	Het
Glipr1l1	A	T	10: 111,898,243 (GRCm39)	Q116L	probably benign	Het
H3c4	A	G	13: 23,760,295 (GRCm39)	D107G	probably damaging	Het
Hectd4	T	A	5: 121,480,914 (GRCm39)	L2985Q	possibly damaging	Het
Hk2	G	T	6: 82,707,804 (GRCm39)	R694S	possibly damaging	Het
Htt	A	G	5: 34,979,118 (GRCm39)	M834V	probably benign	Het
Itpr2	A	G	6: 146,195,578 (GRCm39)	Y1600H	probably benign	Het
Med1	A	T	11: 98,057,157 (GRCm39)	Y340*	probably null	Het
Mov10l1	T	A	15: 88,938,569 (GRCm39)		probably null	Het
Mrc1	T	C	2: 14,284,768 (GRCm39)	F586L	probably benign	Het
Mrrf	T	A	2: 36,037,973 (GRCm39)	D81E	possibly damaging	Het
Nod1	A	G	6: 54,921,616 (GRCm39)	F234S	probably damaging	Het
Odad2	A	G	18: 7,285,360 (GRCm39)	V267A	possibly damaging	Het
Or10ak9	T	A	4: 118,726,665 (GRCm39)	I228N	probably damaging	Het
Or6c69c	T	C	10: 129,911,014 (GRCm39)	V245A	probably damaging	Het
Pde4a	T	C	9: 21,112,682 (GRCm39)	V343A	probably damaging	Het
Pmfbp1	T	A	8: 110,258,383 (GRCm39)	L649Q	probably damaging	Het
Polq	A	G	16: 36,914,872 (GRCm39)	I2511V	possibly damaging	Het
Pramel51	T	A	12: 88,145,135 (GRCm39)	T64S	probably benign	Het
Serac1	T	A	17: 6,106,967 (GRCm39)	R361*	probably null	Het
Serpina3g	T	C	12: 104,206,595 (GRCm39)	V132A	probably damaging	Het
Thada	A	C	17: 84,736,558 (GRCm39)	S908A	probably benign	Het
Zfp280b	C	T	10: 75,875,497 (GRCm39)	Q459*	probably null	Het

Other mutations in Epha8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00946:Epha8	APN	4	136,673,121 (GRCm39)	missense	probably damaging	1.00
IGL00960:Epha8	APN	4	136,679,150 (GRCm39)	splice site	probably null
IGL01124:Epha8	APN	4	136,663,394 (GRCm39)	missense	probably damaging	1.00
IGL01550:Epha8	APN	4	136,659,051 (GRCm39)	missense	possibly damaging	0.87
IGL01807:Epha8	APN	4	136,658,993 (GRCm39)	missense	probably benign	0.08
IGL01844:Epha8	APN	4	136,658,360 (GRCm39)	makesense	probably null
IGL02167:Epha8	APN	4	136,658,405 (GRCm39)	missense	probably damaging	1.00
R0255:Epha8	UTSW	4	136,667,597 (GRCm39)	missense	probably damaging	0.99
R0445:Epha8	UTSW	4	136,659,711 (GRCm39)	missense	probably damaging	1.00
R1757:Epha8	UTSW	4	136,658,789 (GRCm39)	splice site	probably null
R1911:Epha8	UTSW	4	136,663,625 (GRCm39)	missense	probably damaging	1.00
R1936:Epha8	UTSW	4	136,667,554 (GRCm39)	missense	probably benign	0.08
R2291:Epha8	UTSW	4	136,660,658 (GRCm39)	missense	probably damaging	1.00
R2359:Epha8	UTSW	4	136,673,343 (GRCm39)	missense	probably damaging	1.00
R2372:Epha8	UTSW	4	136,660,321 (GRCm39)	missense	probably damaging	1.00
R4581:Epha8	UTSW	4	136,660,775 (GRCm39)	missense	probably damaging	1.00
R4747:Epha8	UTSW	4	136,666,006 (GRCm39)	frame shift	probably null
R4784:Epha8	UTSW	4	136,660,633 (GRCm39)	missense	probably damaging	1.00
R5156:Epha8	UTSW	4	136,666,037 (GRCm39)	missense	probably benign	0.14
R5164:Epha8	UTSW	4	136,672,983 (GRCm39)	missense	possibly damaging	0.93
R5335:Epha8	UTSW	4	136,659,246 (GRCm39)	missense	probably damaging	1.00
R5480:Epha8	UTSW	4	136,662,441 (GRCm39)	missense	probably benign
R5830:Epha8	UTSW	4	136,663,701 (GRCm39)	nonsense	probably null
R6017:Epha8	UTSW	4	136,659,054 (GRCm39)	missense	probably damaging	1.00
R6450:Epha8	UTSW	4	136,659,210 (GRCm39)	missense	probably damaging	1.00
R6798:Epha8	UTSW	4	136,672,980 (GRCm39)	missense	probably benign	0.00
R6799:Epha8	UTSW	4	136,672,980 (GRCm39)	missense	probably benign	0.00
R7060:Epha8	UTSW	4	136,658,469 (GRCm39)	missense	probably damaging	1.00
R7297:Epha8	UTSW	4	136,673,224 (GRCm39)	missense	probably damaging	1.00
R7344:Epha8	UTSW	4	136,661,849 (GRCm39)	missense	probably benign	0.14
R7467:Epha8	UTSW	4	136,658,399 (GRCm39)	missense	possibly damaging	0.90
R7563:Epha8	UTSW	4	136,666,100 (GRCm39)	missense	possibly damaging	0.77
R7826:Epha8	UTSW	4	136,663,498 (GRCm39)	missense	probably benign	0.09
R7845:Epha8	UTSW	4	136,663,712 (GRCm39)	missense	probably benign	0.04
R7863:Epha8	UTSW	4	136,660,966 (GRCm39)	missense	probably damaging	1.00
R7904:Epha8	UTSW	4	136,659,050 (GRCm39)	missense	possibly damaging	0.95
R7918:Epha8	UTSW	4	136,661,877 (GRCm39)	missense	probably benign	0.12
R8177:Epha8	UTSW	4	136,672,974 (GRCm39)	missense	probably benign	0.00
R8244:Epha8	UTSW	4	136,665,897 (GRCm39)	missense	probably damaging	0.98
R8266:Epha8	UTSW	4	136,665,897 (GRCm39)	missense	probably damaging	0.98
R8268:Epha8	UTSW	4	136,665,897 (GRCm39)	missense	probably damaging	0.98
R8269:Epha8	UTSW	4	136,665,897 (GRCm39)	missense	probably damaging	0.98
R8289:Epha8	UTSW	4	136,665,897 (GRCm39)	missense	probably damaging	0.98
R8290:Epha8	UTSW	4	136,665,897 (GRCm39)	missense	probably damaging	0.98
R8294:Epha8	UTSW	4	136,665,897 (GRCm39)	missense	probably damaging	0.98
R8295:Epha8	UTSW	4	136,665,897 (GRCm39)	missense	probably damaging	0.98
R8299:Epha8	UTSW	4	136,665,897 (GRCm39)	missense	probably damaging	0.98
R8445:Epha8	UTSW	4	136,659,600 (GRCm39)	missense	probably benign	0.13
R8889:Epha8	UTSW	4	136,661,850 (GRCm39)	missense	probably benign	0.45
R8892:Epha8	UTSW	4	136,661,850 (GRCm39)	missense	probably benign	0.45
R8928:Epha8	UTSW	4	136,665,897 (GRCm39)	missense	probably damaging	0.98
R8965:Epha8	UTSW	4	136,665,897 (GRCm39)	missense	probably damaging	0.98
R8983:Epha8	UTSW	4	136,665,897 (GRCm39)	missense	probably damaging	0.98
R8984:Epha8	UTSW	4	136,665,897 (GRCm39)	missense	probably damaging	0.98
R8988:Epha8	UTSW	4	136,665,897 (GRCm39)	missense	probably damaging	0.98
R9081:Epha8	UTSW	4	136,665,897 (GRCm39)	missense	probably damaging	0.98
R9231:Epha8	UTSW	4	136,673,226 (GRCm39)	missense	probably damaging	1.00
R9262:Epha8	UTSW	4	136,658,995 (GRCm39)	missense	probably benign
R9370:Epha8	UTSW	4	136,673,511 (GRCm39)	missense	possibly damaging	0.94
R9466:Epha8	UTSW	4	136,662,414 (GRCm39)	missense	probably benign
R9478:Epha8	UTSW	4	136,665,897 (GRCm39)	missense	probably damaging	0.98
R9546:Epha8	UTSW	4	136,665,897 (GRCm39)	missense	probably damaging	0.98
R9547:Epha8	UTSW	4	136,665,897 (GRCm39)	missense	probably damaging	0.98
R9550:Epha8	UTSW	4	136,665,897 (GRCm39)	missense	probably damaging	0.98
R9585:Epha8	UTSW	4	136,665,897 (GRCm39)	missense	probably damaging	0.98
R9624:Epha8	UTSW	4	136,659,065 (GRCm39)	missense	probably damaging	1.00
R9686:Epha8	UTSW	4	136,665,897 (GRCm39)	missense	probably damaging	0.98
R9687:Epha8	UTSW	4	136,665,897 (GRCm39)	missense	probably damaging	0.98
R9690:Epha8	UTSW	4	136,665,897 (GRCm39)	missense	probably damaging	0.98
R9744:Epha8	UTSW	4	136,665,897 (GRCm39)	missense	probably damaging	0.98
R9763:Epha8	UTSW	4	136,665,897 (GRCm39)	missense	probably damaging	0.98
R9794:Epha8	UTSW	4	136,666,035 (GRCm39)	missense	probably benign	0.16
RF025:Epha8	UTSW	4	136,660,348 (GRCm39)	critical splice acceptor site	probably benign
RF054:Epha8	UTSW	4	136,660,348 (GRCm39)	critical splice acceptor site	probably benign
Z1176:Epha8	UTSW	4	136,666,007 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TCCAGAACGCTCACGACATG -3'
(R):5'- CCTCTAGAACGTGTGCTCTTGG -3'

Sequencing Primer
(F):5'- TTGTGCCAGCAGTCCAG -3'
(R):5'- TGGGACAAGGCCAGCTAGC -3'

Posted On

2016-10-24