Mutagenetix > Incidental Mutation

Incidental Mutation 'R5164:Epha8'

395589

Institutional Source

Beutler Lab

Gene Symbol

Epha8

Ensembl Gene

ENSMUSG00000028661

Gene Name

Eph receptor A8

Synonyms

Eek, Hek3, EphA8

MMRRC Submission

042745-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5164 (G1)

Quality Score

173

Status

Validated

Chromosome

Chromosomal Location

136656730-136684127 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 136672983 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 267 (E267G)

Ref Sequence

ENSEMBL: ENSMUSP00000030420 (fasta)

Gene Model

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

AlphaFold

O09127

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030420
AA Change: E267G

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000030420
Gene: ENSMUSG00000028661
AA Change: E267G

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

0.2964

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (49/50)

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
Adgrv1	A	T	13: 81,583,793 (GRCm39)	H4637Q	probably benign	Het
Akap6	A	G	12: 53,189,249 (GRCm39)	H2221R	probably benign	Het
Arsj	A	T	3: 126,231,808 (GRCm39)	M185L	probably benign	Het
Ccdc177	T	C	12: 80,805,336 (GRCm39)	T313A	unknown	Het
Cdkal1	A	T	13: 29,809,702 (GRCm39)	L214H	probably damaging	Het
Cfap44	T	A	16: 44,301,752 (GRCm39)	I1830N	probably damaging	Het
Cfap65	T	C	1: 74,965,675 (GRCm39)	K445R	probably damaging	Het
Chrnb3	T	A	8: 27,884,160 (GRCm39)	I299N	probably damaging	Het
Cse1l	C	A	2: 166,786,348 (GRCm39)	D826E	probably benign	Het
Cwf19l2	T	C	9: 3,475,511 (GRCm39)	V816A	probably damaging	Het
Dnah5	A	T	15: 28,408,438 (GRCm39)	E3474D	probably benign	Het
Dock5	A	T	14: 68,055,110 (GRCm39)	Y585*	probably null	Het
Ebf2	T	C	14: 67,627,970 (GRCm39)	S322P	possibly damaging	Het
Fkbp5	A	G	17: 28,656,964 (GRCm39)		probably null	Het
Gbp4	T	A	5: 105,284,743 (GRCm39)	K49*	probably null	Het
Gramd4	A	T	15: 85,985,032 (GRCm39)	T98S	probably benign	Het
Hectd1	C	A	12: 51,874,272 (GRCm39)	M1I	probably null	Het
Hsd17b8	A	G	17: 34,245,952 (GRCm39)		probably benign	Het
Hycc2	T	C	1: 58,574,597 (GRCm39)	T315A	probably benign	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Keg1	A	G	19: 12,692,044 (GRCm39)		probably benign	Het
Lilra6	A	T	7: 3,917,880 (GRCm39)	V88E	probably damaging	Het
Mast1	A	G	8: 85,640,147 (GRCm39)		probably benign	Het
Mdn1	A	G	4: 32,759,011 (GRCm39)		probably null	Het
Nrdc	C	T	4: 108,896,914 (GRCm39)	T511I	probably damaging	Het
Odad4	G	A	11: 100,462,346 (GRCm39)	W506*	probably null	Het
Or4c106	T	A	2: 88,682,914 (GRCm39)	L207I	probably benign	Het
Or5p6	G	A	7: 107,631,487 (GRCm39)	T21I	possibly damaging	Het
Or8k24	T	C	2: 86,215,815 (GRCm39)	T316A	probably benign	Het
Pms1	A	G	1: 53,246,799 (GRCm39)	V301A	probably damaging	Het
Pnisr	A	T	4: 21,859,237 (GRCm39)	Q144L	possibly damaging	Het
Pp2d1	G	T	17: 53,815,098 (GRCm39)	T542K	probably benign	Het
Ppargc1b	A	T	18: 61,435,715 (GRCm39)	C922S	probably damaging	Het
Ptprd	T	C	4: 76,018,995 (GRCm39)		probably null	Het
Runx3	T	C	4: 134,848,441 (GRCm39)	S9P	possibly damaging	Het
Serpina1b	A	G	12: 103,698,346 (GRCm39)	S168P	probably benign	Het
Slc14a2	G	A	18: 78,200,487 (GRCm39)	A722V	probably damaging	Het
Slc23a2	T	A	2: 131,917,370 (GRCm39)		probably benign	Het
Slc47a1	A	G	11: 61,243,886 (GRCm39)		probably null	Het
Tcf20	A	G	15: 82,740,804 (GRCm39)	S216P	probably damaging	Het
Tpst1	T	A	5: 130,130,842 (GRCm39)	I104N	probably damaging	Het
Ufm1	A	C	3: 53,765,348 (GRCm39)		probably benign	Het
Unkl	A	G	17: 25,432,083 (GRCm39)		probably null	Het
Usf3	T	C	16: 44,038,543 (GRCm39)	S1008P	probably damaging	Het
Ythdf3	T	C	3: 16,237,677 (GRCm39)	V6A	possibly damaging	Het
Zc3h3	A	T	15: 75,648,875 (GRCm39)	S752R	probably benign	Het
Zfp268	T	C	4: 145,348,775 (GRCm39)	Y71H	probably 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
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'- CAGGCCCCTTTGACAATGTC -3'
(R):5'- TACTACAAGAAGTGCCCCGC -3'

Sequencing Primer
(F):5'- CCTTTGACAATGTCATGGGAC -3'
(R):5'- AAGTGCCCCGCCATGGTAC -3'

Posted On

2016-06-21