Mutagenetix > Incidental Mutation

Incidental Mutation 'R0255:Epha8'

34649

Institutional Source

Beutler Lab

Gene Symbol

Epha8

Ensembl Gene

ENSMUSG00000028661

Gene Name

Eph receptor A8

Synonyms

EphA8, Hek3, Eek

MMRRC Submission

038486-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0255 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

136929419-136956816 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 136940286 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 295 (H295Y)

Ref Sequence

ENSEMBL: ENSMUSP00000030420 (fasta)

Gene Model

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

AlphaFold

O09127

Predicted Effect

probably damaging
Transcript: ENSMUST00000030420
AA Change: H295Y

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000030420
Gene: ENSMUSG00000028661
AA Change: H295Y

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

0.1681

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.6%

Validation Efficiency

93% (102/110)

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,226,045	F119S	probably damaging	Het
1810011H11Rik	A	G	14: 32,808,363	K83E	possibly damaging	Het
Abca13	C	A	11: 9,581,545	Q4591K	probably damaging	Het
Anapc1	A	T	2: 128,634,711	M1329K	probably damaging	Het
Aoah	A	T	13: 20,979,540	K338*	probably null	Het
Ascc3	A	T	10: 50,645,058	T416S	probably benign	Het
Baz2a	A	G	10: 128,114,639	T484A	possibly damaging	Het
Btnl6	T	C	17: 34,508,503	N351S	probably benign	Het
Cacna1s	T	G	1: 136,118,806	I1772S	possibly damaging	Het
Ccdc8	A	G	7: 16,995,657	D357G	unknown	Het
Ccna1	T	C	3: 55,050,628	E152G	probably damaging	Het
Cct4	A	G	11: 22,999,073	D273G	probably damaging	Het
Cd9	A	G	6: 125,463,740	V96A	probably damaging	Het
Cdc5l	G	A	17: 45,415,684	R321W	probably damaging	Het
Cdh7	T	C	1: 109,994,306	S43P	probably benign	Het
Cep95	G	A	11: 106,811,271	V365M	probably benign	Het
Ces1c	T	C	8: 93,127,524	T128A	probably benign	Het
Chil5	A	G	3: 106,019,267	V82A	probably damaging	Het
Clmn	T	C	12: 104,781,764	D508G	probably benign	Het
Cog8	A	T	8: 107,049,145		probably benign	Het
Cst3	A	T	2: 148,875,169	V70E	probably damaging	Het
Ctcf	A	G	8: 105,664,039	T93A	possibly damaging	Het
Ctsk	C	A	3: 95,508,877	N315K	probably benign	Het
Cyp2j12	G	T	4: 96,141,025	D6E	probably benign	Het
Dhx34	A	G	7: 16,205,992	V655A	probably benign	Het
Dock10	T	C	1: 80,605,876	Y203C	probably damaging	Het
Dok7	A	T	5: 35,064,334	D26V	probably damaging	Het
Esf1	A	G	2: 140,148,923		probably benign	Het
Fam83c	A	G	2: 155,829,752	S588P	probably benign	Het
Fat3	G	A	9: 15,969,706		probably benign	Het
Fhdc1	T	C	3: 84,453,510		probably benign	Het
Frmd4b	A	G	6: 97,308,086	V338A	probably damaging	Het
Fsd1l	A	G	4: 53,694,727	T394A	probably damaging	Het
Gbf1	A	G	19: 46,254,110		probably benign	Het
Glg1	G	T	8: 111,159,858	Q1101K	possibly damaging	Het
Glt8d2	T	A	10: 82,651,527		probably null	Het
Gm19345	T	C	7: 19,854,930		probably benign	Het
Gpr179	A	T	11: 97,336,066	D1754E	probably benign	Het
Hydin	A	G	8: 110,565,018	T3381A	probably benign	Het
Igkv12-41	G	A	6: 69,858,838	T16I	possibly damaging	Het
Insl5	A	G	4: 103,018,116	*146Q	probably null	Het
Iqce	A	T	5: 140,666,202	I655N	possibly damaging	Het
Irf2bp1	G	A	7: 19,005,002	R189H	possibly damaging	Het
Itsn1	C	T	16: 91,806,090		probably benign	Het
Kansl3	A	T	1: 36,344,969	I724N	probably benign	Het
Kcna4	T	C	2: 107,296,562	I547T	probably damaging	Het
Klk1b4	A	T	7: 44,210,734	I91F	probably benign	Het
Lmbr1	A	G	5: 29,252,755	S282P	probably damaging	Het
Lrrc17	G	A	5: 21,560,969	A150T	probably benign	Het
Lrrc2	A	G	9: 110,980,898	E334G	possibly damaging	Het
Lrrc7	G	A	3: 158,160,838	Q1077*	probably null	Het
Mapk8	A	T	14: 33,387,307		probably benign	Het
Mast1	T	A	8: 84,912,021	T1560S	probably benign	Het
Mdh1b	C	A	1: 63,719,618	A272S	probably damaging	Het
Myo15b	T	C	11: 115,886,283	Y912H	probably damaging	Het
Nf1	T	G	11: 79,408,699		probably null	Het
Nme7	T	A	1: 164,345,375	D218E	probably damaging	Het
Nsun7	T	A	5: 66,289,408		probably benign	Het
Nxpe2	A	G	9: 48,340,570		probably null	Het
Olfr135	T	G	17: 38,208,395	I50R	probably benign	Het
Olfr394	A	G	11: 73,887,829	V181A	probably benign	Het
Olfr473	T	A	7: 107,934,168	V216D	probably damaging	Het
Olfr698	G	A	7: 106,752,989	T133I	probably benign	Het
P2ry1	T	C	3: 61,003,530	V30A	probably benign	Het
Pgm1	T	A	5: 64,112,043	I491N	possibly damaging	Het
Pkd1l3	A	T	8: 109,638,754	D1169V	probably damaging	Het
Poldip2	T	A	11: 78,512,363	S18T	probably benign	Het
Ppp1r32	C	T	19: 10,475,054	R364Q	probably damaging	Het
Pqlc1	C	T	18: 80,263,518	A101V	probably benign	Het
Prg4	C	T	1: 150,455,807		probably benign	Het
Prkab2	T	A	3: 97,667,412	Y241*	probably null	Het
Prmt7	A	G	8: 106,227,207		probably benign	Het
Proser3	T	A	7: 30,546,417	R80W	probably damaging	Het
Prr12	A	G	7: 45,049,991		probably benign	Het
Psmd1	A	T	1: 86,078,582	L223F	probably damaging	Het
Rab13	A	G	3: 90,223,781		probably benign	Het
Rgl1	C	T	1: 152,552,596	C294Y	probably damaging	Het
Rpl21-ps4	C	A	14: 11,227,556		noncoding transcript	Het
Rusc2	T	C	4: 43,423,954	V1036A	probably damaging	Het
Sae1	T	A	7: 16,370,322	K121*	probably null	Het
Sap130	C	T	18: 31,680,506	P539S	probably damaging	Het
Scube2	A	G	7: 109,824,872	L475P	probably damaging	Het
Sec16a	T	C	2: 26,431,186	D1298G	probably damaging	Het
Serpinb9b	T	C	13: 33,038,020	F206L	probably benign	Het
Sh3bp1	T	A	15: 78,904,334	Y202*	probably null	Het
Shprh	T	A	10: 11,186,391	C1177S	possibly damaging	Het
Slc27a6	T	C	18: 58,609,865	Y542H	possibly damaging	Het
Slc41a1	T	C	1: 131,843,912		probably benign	Het
Slc46a1	T	C	11: 78,470,799	F424L	probably damaging	Het
Slc6a12	G	A	6: 121,356,918	V238I	probably damaging	Het
Slc6a20a	A	G	9: 123,664,621	V65A	probably damaging	Het
Slc9c1	T	A	16: 45,554,300	S343T	probably benign	Het
Spcs3	C	A	8: 54,528,380	R60I	probably benign	Het
Ssfa2	T	A	2: 79,660,466	L976Q	probably damaging	Het
Tbc1d16	C	A	11: 119,147,575	R764L	possibly damaging	Het
Tcaf2	A	T	6: 42,642,904	V63E	possibly damaging	Het
Tmc1	G	T	19: 20,789,587	A750E	possibly damaging	Het
Tmem81	C	G	1: 132,507,829	I124M	probably damaging	Het
Tmx3	T	C	18: 90,540,006	I394T	probably damaging	Het
Trank1	G	A	9: 111,366,024	E1039K	possibly damaging	Het
Trpc4ap	A	G	2: 155,657,946		probably benign	Het
Tsen54	T	C	11: 115,815,408	C123R	probably damaging	Het
Ubtd1	A	G	19: 42,031,934	D39G	possibly damaging	Het
Vmn1r181	A	T	7: 23,984,334	M75L	probably benign	Het
Zc3h7a	T	C	16: 11,140,737	T847A	probably damaging	Het
Zc3hav1	A	G	6: 38,336,550	C187R	probably damaging	Het
Zfp692	G	A	11: 58,310,403		probably benign	Het
Zmiz1	G	A	14: 25,654,495		probably benign	Het

Other mutations in Epha8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00946:Epha8	APN	4	136945810	missense	probably damaging	1.00
IGL00960:Epha8	APN	4	136951839	splice site	probably null
IGL01124:Epha8	APN	4	136936083	missense	probably damaging	1.00
IGL01550:Epha8	APN	4	136931740	missense	possibly damaging	0.87
IGL01807:Epha8	APN	4	136931682	missense	probably benign	0.08
IGL01844:Epha8	APN	4	136931049	makesense	probably null
IGL02167:Epha8	APN	4	136931094	missense	probably damaging	1.00
R0445:Epha8	UTSW	4	136932400	missense	probably damaging	1.00
R1757:Epha8	UTSW	4	136931478	splice site	probably null
R1911:Epha8	UTSW	4	136936314	missense	probably damaging	1.00
R1936:Epha8	UTSW	4	136940243	missense	probably benign	0.08
R2291:Epha8	UTSW	4	136933347	missense	probably damaging	1.00
R2359:Epha8	UTSW	4	136946032	missense	probably damaging	1.00
R2372:Epha8	UTSW	4	136933010	missense	probably damaging	1.00
R4581:Epha8	UTSW	4	136933464	missense	probably damaging	1.00
R4747:Epha8	UTSW	4	136938695	frame shift	probably null
R4784:Epha8	UTSW	4	136933322	missense	probably damaging	1.00
R5156:Epha8	UTSW	4	136938726	missense	probably benign	0.14
R5164:Epha8	UTSW	4	136945672	missense	possibly damaging	0.93
R5335:Epha8	UTSW	4	136931935	missense	probably damaging	1.00
R5480:Epha8	UTSW	4	136935130	missense	probably benign
R5552:Epha8	UTSW	4	136931899	missense	probably damaging	1.00
R5830:Epha8	UTSW	4	136936390	nonsense	probably null
R6017:Epha8	UTSW	4	136931743	missense	probably damaging	1.00
R6450:Epha8	UTSW	4	136931899	missense	probably damaging	1.00
R6798:Epha8	UTSW	4	136945669	missense	probably benign	0.00
R6799:Epha8	UTSW	4	136945669	missense	probably benign	0.00
R7060:Epha8	UTSW	4	136931158	missense	probably damaging	1.00
R7297:Epha8	UTSW	4	136945913	missense	probably damaging	1.00
R7344:Epha8	UTSW	4	136934538	missense	probably benign	0.14
R7467:Epha8	UTSW	4	136931088	missense	possibly damaging	0.90
R7563:Epha8	UTSW	4	136938789	missense	possibly damaging	0.77
R7826:Epha8	UTSW	4	136936187	missense	probably benign	0.09
R7845:Epha8	UTSW	4	136936401	missense	probably benign	0.04
R7863:Epha8	UTSW	4	136933655	missense	probably damaging	1.00
R7904:Epha8	UTSW	4	136931739	missense	possibly damaging	0.95
R7918:Epha8	UTSW	4	136934566	missense	probably benign	0.12
R8177:Epha8	UTSW	4	136945663	missense	probably benign	0.00
R8244:Epha8	UTSW	4	136938586	missense	probably damaging	0.98
R8266:Epha8	UTSW	4	136938586	missense	probably damaging	0.98
R8268:Epha8	UTSW	4	136938586	missense	probably damaging	0.98
R8269:Epha8	UTSW	4	136938586	missense	probably damaging	0.98
R8289:Epha8	UTSW	4	136938586	missense	probably damaging	0.98
R8290:Epha8	UTSW	4	136938586	missense	probably damaging	0.98
R8294:Epha8	UTSW	4	136938586	missense	probably damaging	0.98
R8295:Epha8	UTSW	4	136938586	missense	probably damaging	0.98
R8299:Epha8	UTSW	4	136938586	missense	probably damaging	0.98
R8445:Epha8	UTSW	4	136932289	missense	probably benign	0.13
R8889:Epha8	UTSW	4	136934539	missense	probably benign	0.45
R8892:Epha8	UTSW	4	136934539	missense	probably benign	0.45
R8928:Epha8	UTSW	4	136938586	missense	probably damaging	0.98
R8965:Epha8	UTSW	4	136938586	missense	probably damaging	0.98
R8983:Epha8	UTSW	4	136938586	missense	probably damaging	0.98
R8984:Epha8	UTSW	4	136938586	missense	probably damaging	0.98
R8988:Epha8	UTSW	4	136938586	missense	probably damaging	0.98
R9081:Epha8	UTSW	4	136938586	missense	probably damaging	0.98
R9231:Epha8	UTSW	4	136945915	missense	probably damaging	1.00
R9262:Epha8	UTSW	4	136931684	missense	probably benign
R9370:Epha8	UTSW	4	136946200	missense	possibly damaging	0.94
R9466:Epha8	UTSW	4	136935103	missense	probably benign
R9478:Epha8	UTSW	4	136938586	missense	probably damaging	0.98
R9546:Epha8	UTSW	4	136938586	missense	probably damaging	0.98
R9547:Epha8	UTSW	4	136938586	missense	probably damaging	0.98
R9550:Epha8	UTSW	4	136938586	missense	probably damaging	0.98
R9585:Epha8	UTSW	4	136938586	missense	probably damaging	0.98
R9624:Epha8	UTSW	4	136931754	missense	probably damaging	1.00
R9686:Epha8	UTSW	4	136938586	missense	probably damaging	0.98
R9687:Epha8	UTSW	4	136938586	missense	probably damaging	0.98
R9690:Epha8	UTSW	4	136938586	missense	probably damaging	0.98
R9744:Epha8	UTSW	4	136938586	missense	probably damaging	0.98
R9763:Epha8	UTSW	4	136938586	missense	probably damaging	0.98
R9794:Epha8	UTSW	4	136938724	missense	probably benign	0.16
RF025:Epha8	UTSW	4	136933037	critical splice acceptor site	probably benign
RF054:Epha8	UTSW	4	136933037	critical splice acceptor site	probably benign
Z1176:Epha8	UTSW	4	136938696	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TAGACGCCTGGCTCCAGAATGAAC -3'
(R):5'- GGTCCTAGCTCAACTCCATGCAAC -3'

Sequencing Primer
(F):5'- GAGGTTCAAGGCGGTACTTA -3'
(R):5'- ATGCAACCCTGTGGAAGTC -3'

Posted On

2013-05-09