Mutagenetix > Incidental Mutation

Incidental Mutation 'R2359:Epha8'

247060

Institutional Source

Beutler Lab

Gene Symbol

Epha8

Ensembl Gene

ENSMUSG00000028661

Gene Name

Eph receptor A8

Synonyms

Eek, Hek3, EphA8

MMRRC Submission

040341-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2359 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

136656730-136684127 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 136673343 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 147 (I147T)

Ref Sequence

ENSEMBL: ENSMUSP00000030420 (fasta)

Gene Model

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

AlphaFold

O09127

Predicted Effect

probably damaging
Transcript: ENSMUST00000030420
AA Change: I147T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030420
Gene: ENSMUSG00000028661
AA Change: I147T

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

0.8948

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.3%

Validation Efficiency

95% (41/43)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam24	A	G	8: 41,133,984 (GRCm39)	E484G	possibly damaging	Het
Akr1c20	C	T	13: 4,573,276 (GRCm39)	G13D	probably damaging	Het
Alkbh3	T	C	2: 93,838,458 (GRCm39)	T38A	probably benign	Het
Anxa9	A	C	3: 95,210,062 (GRCm39)	L99R	probably damaging	Het
Arfgef2	A	T	2: 166,702,539 (GRCm39)	Y826F	probably damaging	Het
Arid2	G	T	15: 96,259,759 (GRCm39)	L306F	probably damaging	Het
Ccdc141	C	T	2: 77,000,746 (GRCm39)	V29M	probably damaging	Het
Cd55b	A	G	1: 130,345,858 (GRCm39)	S187P	probably damaging	Het
Cep63	A	C	9: 102,471,763 (GRCm39)	L526V	possibly damaging	Het
Chtf8	G	T	8: 107,612,048 (GRCm39)		probably null	Het
Clca4b	T	A	3: 144,631,003 (GRCm39)	S286C	probably damaging	Het
Cpsf1	A	G	15: 76,481,873 (GRCm39)	V1080A	probably benign	Het
Csf2rb2	C	T	15: 78,176,976 (GRCm39)	V165I	probably benign	Het
Cyp2c40	A	T	19: 39,766,398 (GRCm39)	V399E	probably damaging	Het
Dnmt3a	T	C	12: 3,951,599 (GRCm39)	S659P	probably damaging	Het
Efcab3	T	C	11: 104,630,106 (GRCm39)	S967P	possibly damaging	Het
Efr3b	G	A	12: 4,030,136 (GRCm39)		probably benign	Het
Fbxo48	G	A	11: 16,903,602 (GRCm39)	W76*	probably null	Het
Ggt6	A	T	11: 72,328,377 (GRCm39)	L254F	possibly damaging	Het
Gm4204	T	A	1: 135,159,927 (GRCm39)		noncoding transcript	Het
Golph3l	A	G	3: 95,499,275 (GRCm39)		probably null	Het
Gtf2h3	A	G	5: 124,728,939 (GRCm39)	K166R	probably damaging	Het
Hsp90aa1	A	G	12: 110,661,003 (GRCm39)		probably null	Het
Hyi	A	G	4: 118,217,538 (GRCm39)	R79G	probably benign	Het
Igbp1b	G	A	6: 138,634,713 (GRCm39)	P244S	probably damaging	Het
Ipo8	G	A	6: 148,717,975 (GRCm39)		probably benign	Het
Larp4b	C	A	13: 9,208,199 (GRCm39)	T391K	probably damaging	Het
Lrba	T	C	3: 86,256,057 (GRCm39)	V1133A	probably benign	Het
Med13	C	T	11: 86,181,861 (GRCm39)		probably benign	Het
Ncapd2	A	G	6: 125,156,379 (GRCm39)		probably benign	Het
Neurl1b	T	C	17: 26,660,569 (GRCm39)	F299L	probably benign	Het
Nosip	G	A	7: 44,723,450 (GRCm39)	A39T	possibly damaging	Het
Nsd1	A	G	13: 55,361,524 (GRCm39)	D164G	possibly damaging	Het
Ntn1	G	A	11: 68,276,438 (GRCm39)	T170M	probably damaging	Het
Polrmt	A	T	10: 79,572,396 (GRCm39)	L1079Q	probably damaging	Het
Prxl2c	A	T	13: 64,460,465 (GRCm39)	C12S	probably benign	Het
Rab30	A	G	7: 92,485,005 (GRCm39)	D129G	possibly damaging	Het
Rwdd2b	C	T	16: 87,233,809 (GRCm39)	S97N	probably benign	Het
Slitrk3	T	G	3: 72,956,678 (GRCm39)	D698A	possibly damaging	Het
Smarcd2	T	C	11: 106,157,990 (GRCm39)	M93V	probably benign	Het
Tmprss4	A	G	9: 45,097,130 (GRCm39)	V45A	probably benign	Het
Vmn1r22	A	T	6: 57,877,974 (GRCm39)	M1K	probably null	Het
Vps13a	A	G	19: 16,630,043 (GRCm39)		probably benign	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
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
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'- CGGGGCACTTCTTGTAGTAGATTC -3'
(R):5'- CAAGTATGCAACGTCATGAGCC -3'

Sequencing Primer
(F):5'- CACTTCTTGTAGTAGATTCGGAGTG -3'
(R):5'- AGAACAACTGGCTGCGC -3'

Posted On

2014-10-30