Mutagenetix > Incidental Mutation

Incidental Mutation 'R7918:Epha8'

648176

Institutional Source

Beutler Lab

Gene Symbol

Epha8

Ensembl Gene

ENSMUSG00000028661

Gene Name

Eph receptor A8

Synonyms

Eek, Hek3, EphA8

MMRRC Submission

045966-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7918 (G1)

Quality Score

190.009

Status

Not validated

Chromosome

Chromosomal Location

136656730-136684127 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 136661877 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 573 (F573L)

Ref Sequence

ENSEMBL: ENSMUSP00000030420 (fasta)

Gene Model

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

AlphaFold

O09127

Predicted Effect

probably benign
Transcript: ENSMUST00000030420
AA Change: F573L

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000030420
Gene: ENSMUSG00000028661
AA Change: F573L

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A330070K13Rik	G	A	5: 130,413,269 (GRCm39)	T30I	unknown	Het
Adam21	A	G	12: 81,607,378 (GRCm39)	V128A	possibly damaging	Het
Adam26a	T	C	8: 44,022,566 (GRCm39)	Y308C	probably damaging	Het
Adam26b	A	G	8: 43,974,138 (GRCm39)	V288A	probably benign	Het
Ankrd29	A	C	18: 12,428,979 (GRCm39)	L30R	probably damaging	Het
Bank1	A	G	3: 135,799,123 (GRCm39)	I406T	probably damaging	Het
Cacna1g	A	G	11: 94,334,856 (GRCm39)	I817T	probably benign	Het
Catsperd	T	C	17: 56,938,564 (GRCm39)	F31L	probably benign	Het
Cep164	A	G	9: 45,690,986 (GRCm39)		probably null	Het
Clca4b	T	C	3: 144,619,033 (GRCm39)	Y702C	probably damaging	Het
Clstn1	A	G	4: 149,728,508 (GRCm39)	I655V	probably damaging	Het
Dock1	A	G	7: 134,747,147 (GRCm39)	E1486G	probably damaging	Het
Exoc1	A	G	5: 76,691,840 (GRCm39)	N323S	probably benign	Het
Exoc6b	C	T	6: 85,046,332 (GRCm39)	R19Q	probably damaging	Het
Gcsam	T	C	16: 45,440,502 (GRCm39)	*182R	probably null	Het
Ighv9-2	T	C	12: 114,072,911 (GRCm39)	I21V	probably benign	Het
Ints2	G	A	11: 86,113,043 (GRCm39)	T825M	probably damaging	Het
Kti12	A	C	4: 108,705,443 (GRCm39)	E119A	probably benign	Het
Kti12	G	T	4: 108,705,444 (GRCm39)	E119D	probably benign	Het
Lad1	A	G	1: 135,757,454 (GRCm39)	T398A	probably benign	Het
Lrfn2	T	C	17: 49,378,212 (GRCm39)	V431A	probably damaging	Het
Mast2	T	C	4: 116,292,732 (GRCm39)	I79M	possibly damaging	Het
Nup107	A	G	10: 117,617,905 (GRCm39)	V171A	probably benign	Het
Or1e1c	T	C	11: 73,265,923 (GRCm39)	F119S	probably damaging	Het
Or8b101	T	A	9: 38,020,103 (GRCm39)	Y35*	probably null	Het
Or8g37	C	A	9: 39,731,406 (GRCm39)	T157K	probably damaging	Het
Pde4dip	T	A	3: 97,622,539 (GRCm39)	K1557*	probably null	Het
Plat	C	T	8: 23,263,655 (GRCm39)	P185S	probably damaging	Het
Plcg1	T	G	2: 160,595,585 (GRCm39)	V511G	probably damaging	Het
Plxnb3	C	T	X: 72,811,251 (GRCm39)	A1258V	probably benign	Het
Rnf223	T	C	4: 156,217,240 (GRCm39)	V205A	probably benign	Het
Slc13a1	G	C	6: 24,118,065 (GRCm39)	T224R	probably benign	Het
Slc39a10	T	A	1: 46,874,912 (GRCm39)	H130L	possibly damaging	Het
Sucnr1	T	A	3: 59,993,790 (GRCm39)	I106N	probably damaging	Het
Syde2	T	C	3: 145,708,170 (GRCm39)		probably null	Het
Syne1	T	C	10: 5,309,078 (GRCm39)	I644V	possibly damaging	Het
Tbc1d8	A	C	1: 39,441,809 (GRCm39)	F261C	probably damaging	Het
Tmem132e	A	G	11: 82,336,116 (GRCm39)	Y1066C	probably damaging	Het
Trip12	A	C	1: 84,722,784 (GRCm39)	I1322S	probably damaging	Het
Tsnaxip1	A	G	8: 106,571,167 (GRCm39)	I676V	probably benign	Het
Vmn1r231	A	T	17: 21,110,236 (GRCm39)	Y226*	probably null	Het
Vmn2r63	G	C	7: 42,552,955 (GRCm39)	A767G	probably damaging	Het
Wdr5b	A	G	16: 35,862,192 (GRCm39)	T104A	probably damaging	Het
Zbed5	T	C	5: 129,930,504 (GRCm39)	V151A	possibly damaging	Het
Zc3h7b	T	C	15: 81,653,189 (GRCm39)	F31S	probably damaging	Het
Zfp874b	A	T	13: 67,622,279 (GRCm39)	C340S	possibly damaging	Het
Zmym4	T	A	4: 126,804,797 (GRCm39)		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
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
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'- AGGCATCACGCATGAACTAC -3'
(R):5'- ATGAGTCTAGAACCAAGGCCC -3'

Sequencing Primer
(F):5'- AAGAACCTTTGGCATCCCTCGG -3'
(R):5'- AAGGCCCCTCCTCTTCAGAC -3'

Posted On

2020-09-15