Mutagenetix > Incidental Mutation

Incidental Mutation 'R5480:Epha8'

434251

Institutional Source

Beutler Lab

Gene Symbol

Epha8

Ensembl Gene

ENSMUSG00000028661

Gene Name

Eph receptor A8

Synonyms

Eek, Hek3, EphA8

MMRRC Submission

043041-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5480 (G1)

Quality Score

200

Status

Validated

Chromosome

Chromosomal Location

136656730-136684127 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 136662441 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 539 (T539A)

Ref Sequence

ENSEMBL: ENSMUSP00000030420 (fasta)

Gene Model

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

AlphaFold

O09127

Predicted Effect

probably benign
Transcript: ENSMUST00000030420
AA Change: T539A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000030420
Gene: ENSMUSG00000028661
AA Change: T539A

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

Meta Mutation Damage Score

0.0835

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.2%
20x: 90.7%

Validation Efficiency

97% (56/58)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh7	A	G	17: 57,306,131 (GRCm39)		probably benign	Het
Alpk2	A	G	18: 65,482,979 (GRCm39)	L343S	probably damaging	Het
Btbd10	T	A	7: 112,915,914 (GRCm39)	R392W	probably damaging	Het
Camkv	A	G	9: 107,824,074 (GRCm39)	D216G	probably damaging	Het
Col22a1	T	C	15: 71,836,460 (GRCm39)	D525G	probably damaging	Het
Dqx1	A	T	6: 83,041,784 (GRCm39)	D542V	probably damaging	Het
Faap100	T	C	11: 120,267,939 (GRCm39)	E278G	probably damaging	Het
Fat2	A	G	11: 55,200,912 (GRCm39)	S721P	probably damaging	Het
Fcgbpl1	T	A	7: 27,857,424 (GRCm39)	C2257*	probably null	Het
Frem2	A	T	3: 53,563,928 (GRCm39)	L193*	probably null	Het
Gfy	C	A	7: 44,826,657 (GRCm39)	V394F	probably benign	Het
Gipr	A	G	7: 18,894,579 (GRCm39)	L241P	probably damaging	Het
Gm5478	A	G	15: 101,552,100 (GRCm39)	S445P	probably damaging	Het
Ift140	G	T	17: 25,239,550 (GRCm39)	W69L	probably damaging	Het
Kat6a	T	A	8: 23,428,323 (GRCm39)	M1226K	possibly damaging	Het
Klk12	T	G	7: 43,420,482 (GRCm39)	H140Q	probably benign	Het
Map3k14	A	G	11: 103,130,330 (GRCm39)	F196L	probably benign	Het
Mblac2	T	A	13: 81,898,395 (GRCm39)	V257E	possibly damaging	Het
Pcdha11	A	G	18: 37,138,935 (GRCm39)	E188G	probably benign	Het
Pdzd7	T	C	19: 45,027,724 (GRCm39)	N250S	possibly damaging	Het
Phkb	A	G	8: 86,648,811 (GRCm39)	D209G	probably damaging	Het
Pigs	T	G	11: 78,219,901 (GRCm39)	I92S	possibly damaging	Het
Pigz	G	T	16: 31,763,439 (GRCm39)	G166C	probably damaging	Het
Pkd1l2	C	A	8: 117,757,388 (GRCm39)	R1550L	probably damaging	Het
Pkd2l1	A	G	19: 44,180,595 (GRCm39)	V40A	probably benign	Het
Plxna1	A	T	6: 89,301,616 (GRCm39)	M1470K	probably damaging	Het
Polq	T	A	16: 36,833,652 (GRCm39)		probably benign	Het
Prune2	A	G	19: 17,098,311 (GRCm39)	T1272A	possibly damaging	Het
Rfwd3	A	T	8: 112,000,464 (GRCm39)	D720E	probably damaging	Het
Rgs12	C	G	5: 35,123,455 (GRCm39)	Q413E	probably benign	Het
Rhobtb1	T	A	10: 69,106,563 (GRCm39)	V376D	possibly damaging	Het
Rrp8	C	T	7: 105,383,336 (GRCm39)	S310N	probably damaging	Het
S100a3	C	T	3: 90,509,591 (GRCm39)	L79F	probably damaging	Het
Setbp1	C	A	18: 78,901,278 (GRCm39)	M796I	probably damaging	Het
Sipa1	A	G	19: 5,709,658 (GRCm39)	L254P	possibly damaging	Het
Slc4a7	C	G	14: 14,782,138 (GRCm38)	H964Q	probably damaging	Het
Strc	G	T	2: 121,195,300 (GRCm39)	P1661Q	probably benign	Het
Taf5l	A	T	8: 124,736,559 (GRCm39)	V4E	possibly damaging	Het
Tbc1d15	T	C	10: 115,069,123 (GRCm39)	E82G	probably damaging	Het
Thada	A	G	17: 84,739,682 (GRCm39)	S858P	probably benign	Het
Ticrr	T	C	7: 79,310,557 (GRCm39)	V157A	probably damaging	Het
Trim21	T	C	7: 102,208,463 (GRCm39)	T419A	probably benign	Het
Vmn2r60	G	T	7: 41,785,154 (GRCm39)	W122L	probably damaging	Het
Vwa3b	C	A	1: 37,139,787 (GRCm39)	Y369*	probably null	Het
Ythdf3	T	C	3: 16,237,664 (GRCm39)	S2P	possibly damaging	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
R5552:Epha8	UTSW	4	136,659,210 (GRCm39)	missense	probably damaging	1.00
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'- TTACATAGGCTGTGCTTGCG -3'
(R):5'- AGTGATTGTCAGCAGCAGGC -3'

Sequencing Primer
(F):5'- CATTCATGGCCTCCGTGTGG -3'
(R):5'- AGGCTCAGCTTGCACGGTC -3'

Posted On

2016-10-06