Mutagenetix > Incidental Mutation

Incidental Mutation 'R4784:Epha8'

366808

Institutional Source

Beutler Lab

Gene Symbol

Epha8

Ensembl Gene

ENSMUSG00000028661

Gene Name

Eph receptor A8

Synonyms

EphA8, Hek3, Eek

MMRRC Submission

041994-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4784 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

136929419-136956816 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 136933322 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 695 (I695N)

Ref Sequence

ENSEMBL: ENSMUSP00000030420 (fasta)

Gene Model

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

AlphaFold

O09127

Predicted Effect

probably damaging
Transcript: ENSMUST00000030420
AA Change: I695N

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

SMART Domains

Protein: ENSMUSP00000030420
Gene: ENSMUSG00000028661
AA Change: I695N

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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1a	T	A	14: 66,637,824 (GRCm38)	S83T	probably damaging	Het
Aff1	T	A	5: 103,847,039 (GRCm38)	Y1034*	probably null	Het
Ago3	A	T	4: 126,368,503 (GRCm38)	M418K	probably benign	Het
Alpk1	G	T	3: 127,687,592 (GRCm38)	N175K	possibly damaging	Het
Als2	A	G	1: 59,215,313 (GRCm38)	V295A	probably benign	Het
Arhgap32	T	C	9: 32,260,780 (GRCm38)	C1619R	probably damaging	Het
Arhgap32	A	G	9: 32,129,653 (GRCm38)	D67G	probably damaging	Het
Asns	T	G	6: 7,678,029 (GRCm38)	K350Q	probably benign	Het
Atp8b5	A	T	4: 43,356,980 (GRCm38)	D576V	probably damaging	Het
Atrnl1	A	G	19: 57,629,158 (GRCm38)	I122V	probably damaging	Het
Baz1b	T	G	5: 135,217,413 (GRCm38)	L572R	possibly damaging	Het
C4b	T	C	17: 34,733,406 (GRCm38)	T1220A	probably benign	Het
Carmil3	T	C	14: 55,501,321 (GRCm38)		probably null	Het
Ccndbp1	A	T	2: 121,008,522 (GRCm38)	T5S	probably benign	Het
Chaf1b	T	C	16: 93,884,542 (GRCm38)	V16A	probably damaging	Het
Chd8	C	A	14: 52,205,368 (GRCm38)	C575F	probably damaging	Het
Chrna10	G	A	7: 102,113,219 (GRCm38)	P255S	possibly damaging	Het
Clip1	T	C	5: 123,579,293 (GRCm38)	D1387G	probably damaging	Het
Col12a1	C	A	9: 79,678,494 (GRCm38)	V1228F	possibly damaging	Het
Cxcr5	T	C	9: 44,513,341 (GRCm38)	T340A	probably benign	Het
Cyp2e1	G	A	7: 140,763,908 (GRCm38)	V20I	possibly damaging	Het
Dchs1	A	G	7: 105,765,926 (GRCm38)	Y684H	probably damaging	Het
Dcun1d3	T	C	7: 119,857,664 (GRCm38)	E275G	probably damaging	Het
Dgcr8	G	A	16: 18,258,310 (GRCm38)	R4*	probably null	Het
Dglucy	A	T	12: 100,838,664 (GRCm38)	D168V	probably damaging	Het
Dnah1	T	A	14: 31,263,479 (GRCm38)	K3818N	probably damaging	Het
Dnajc17	T	C	2: 119,179,428 (GRCm38)	D239G	probably benign	Het
Dok2	C	T	14: 70,777,874 (GRCm38)	P347L	probably benign	Het
Elavl2	T	C	4: 91,254,142 (GRCm38)	R265G	probably null	Het
Elf1	T	A	14: 79,580,743 (GRCm38)	N567K	probably benign	Het
Fam103a1	T	A	7: 81,768,415 (GRCm38)	W73R	probably damaging	Het
Fam178b	C	A	1: 36,632,415 (GRCm38)		probably null	Het
Fam76a	A	G	4: 132,916,190 (GRCm38)	Y78H	probably damaging	Het
Fam76a	A	T	4: 132,902,117 (GRCm38)		probably null	Het
Fbn1	A	T	2: 125,324,919 (GRCm38)	C2026S	probably damaging	Het
Fbxo4	T	C	15: 3,969,041 (GRCm38)	T312A	probably benign	Het
Fscn2	T	C	11: 120,367,987 (GRCm38)	F453L	possibly damaging	Het
Gabrb2	T	C	11: 42,597,642 (GRCm38)	C312R	probably damaging	Het
Gba2	A	C	4: 43,568,315 (GRCm38)	L684R	probably damaging	Het
Golga2	T	A	2: 32,297,156 (GRCm38)	N89K	probably damaging	Het
Gpx6	C	T	13: 21,312,264 (GRCm38)	Q3*	probably null	Het
Grin1	T	A	2: 25,292,381 (GRCm38)	H956L	possibly damaging	Het
H2-Q7	T	G	17: 35,439,938 (GRCm38)	C122G	probably damaging	Het
Hcar2	C	G	5: 123,864,450 (GRCm38)	G330A	probably benign	Het
Hes3	A	G	4: 152,287,832 (GRCm38)	S37P	probably damaging	Het
Hs3st3b1	T	C	11: 63,889,260 (GRCm38)	H347R	probably benign	Het
Il1rl1	A	G	1: 40,450,188 (GRCm38)	R367G	probably damaging	Het
Kcnc1	G	T	7: 46,437,287 (GRCm38)	S570I	probably benign	Het
Kctd3	T	C	1: 188,974,468 (GRCm38)	I523M	probably damaging	Het
Klk14	G	A	7: 43,692,077 (GRCm38)	C51Y	probably damaging	Het
Kntc1	T	G	5: 123,816,762 (GRCm38)	M2081R	possibly damaging	Het
Krt83	A	G	15: 101,487,956 (GRCm38)	S253P	probably damaging	Het
Ktn1	T	A	14: 47,693,496 (GRCm38)		probably null	Het
Lair1	T	A	7: 4,009,732 (GRCm38)	M251L	probably benign	Het
Lama3	A	T	18: 12,449,544 (GRCm38)	H631L	probably benign	Het
Lamc1	T	C	1: 153,231,740 (GRCm38)	N1231S	probably damaging	Het
Lin54	A	G	5: 100,459,738 (GRCm38)	I250T	probably damaging	Het
Lrit1	C	T	14: 37,062,236 (GRCm38)	T507M	possibly damaging	Het
Lrp11	A	G	10: 7,604,201 (GRCm38)	H345R	possibly damaging	Het
Lrp6	A	C	6: 134,479,539 (GRCm38)	S921A	probably benign	Het
Lrrc27	A	G	7: 139,242,698 (GRCm38)	T502A	probably benign	Het
Marf1	A	C	16: 14,152,457 (GRCm38)	S133A	probably benign	Het
Mga	C	T	2: 119,903,057 (GRCm38)	P129S	probably damaging	Het
Mgat4e	T	C	1: 134,541,325 (GRCm38)	N327S	probably damaging	Het
Mlh1	A	G	9: 111,239,798 (GRCm38)	Y499H	probably benign	Het
Mrgpra1	A	G	7: 47,335,470 (GRCm38)	S154P	probably damaging	Het
Myo1h	A	G	5: 114,360,599 (GRCm38)	I919V	possibly damaging	Het
Naalad2	T	C	9: 18,350,918 (GRCm38)	R442G	probably damaging	Het
Nat8f4	T	C	6: 85,901,499 (GRCm38)	H14R	probably benign	Het
Nav1	A	G	1: 135,458,739 (GRCm38)	S1184P	probably damaging	Het
Nckap1	T	A	2: 80,506,934 (GRCm38)	N986I	probably benign	Het
Ndufaf2	C	G	13: 108,052,780 (GRCm38)	A145P	probably damaging	Het
Nop9	AGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGA	14: 55,746,402 (GRCm38)		probably benign	Het
Nphp4	G	A	4: 152,554,546 (GRCm38)	R878K	probably benign	Het
Nutm1	G	A	2: 112,248,936 (GRCm38)	A878V	probably benign	Het
Olfr1305	A	T	2: 111,873,050 (GRCm38)	D268E	possibly damaging	Het
Olfr172	G	T	16: 58,760,548 (GRCm38)	F209L	probably damaging	Het
Olfr675	A	C	7: 105,024,530 (GRCm38)	I150S	probably damaging	Het
Orc6	T	A	8: 85,302,950 (GRCm38)	I41K	probably damaging	Het
Pikfyve	A	G	1: 65,267,846 (GRCm38)	T1798A	probably benign	Het
Ppp1r14a	A	T	7: 29,292,061 (GRCm38)	E98V	possibly damaging	Het
Pqlc2	G	T	4: 139,300,001 (GRCm38)	H343Q	probably benign	Het
Prpf8	T	A	11: 75,492,505 (GRCm38)	D521E	probably damaging	Het
Pudp	A	G	18: 50,568,065 (GRCm38)	V199A	probably damaging	Het
Rab3c	T	C	13: 110,061,900 (GRCm38)	E198G	probably benign	Het
Rbl2	A	G	8: 91,085,568 (GRCm38)	Y255C	probably damaging	Het
Rbm12	T	C	2: 156,096,564 (GRCm38)	D596G	possibly damaging	Het
Sipa1l3	A	G	7: 29,377,641 (GRCm38)	V902A	probably damaging	Het
Slc37a3	T	G	6: 39,337,223 (GRCm38)	Q485P	probably benign	Het
Slc44a3	T	C	3: 121,527,074 (GRCm38)	T93A	possibly damaging	Het
Sun3	G	A	11: 9,038,266 (GRCm38)	L19F	probably benign	Het
Tas2r125	A	G	6: 132,909,903 (GRCm38)	I85V	probably benign	Het
Tenm4	A	C	7: 96,774,046 (GRCm38)	K683Q	probably damaging	Het
Tmprss11d	C	T	5: 86,306,281 (GRCm38)	V222M	probably damaging	Het
Tnip1	A	C	11: 54,915,539 (GRCm38)	S570A	possibly damaging	Het
Top1mt	G	A	15: 75,657,703 (GRCm38)	P554S	probably damaging	Het
Top1mt	A	G	15: 75,676,031 (GRCm38)	F69L	possibly damaging	Het
Ttc7	A	G	17: 87,340,897 (GRCm38)	K508R	probably benign	Het
Ttll4	A	T	1: 74,679,007 (GRCm38)	T6S	possibly damaging	Het
Xpo5	T	C	17: 46,222,717 (GRCm38)	Y500H	possibly damaging	Het
Xpot	C	T	10: 121,615,063 (GRCm38)		probably null	Het
Zbbx	T	C	3: 75,085,041 (GRCm38)	I268V	probably benign	Het
Zbtb40	G	A	4: 137,007,097 (GRCm38)	P360S	probably damaging	Het
Zfp324	T	C	7: 12,971,306 (GRCm38)	L474P	probably damaging	Het
Zfp398	A	G	6: 47,840,252 (GRCm38)	T9A	probably benign	Het
Zfp692	A	C	11: 58,310,171 (GRCm38)	S293R	probably null	Het

Other mutations in Epha8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00946:Epha8	APN	4	136,945,810 (GRCm38)	missense	probably damaging	1.00
IGL00960:Epha8	APN	4	136,951,839 (GRCm38)	splice site	probably null
IGL01124:Epha8	APN	4	136,936,083 (GRCm38)	missense	probably damaging	1.00
IGL01550:Epha8	APN	4	136,931,740 (GRCm38)	missense	possibly damaging	0.87
IGL01807:Epha8	APN	4	136,931,682 (GRCm38)	missense	probably benign	0.08
IGL01844:Epha8	APN	4	136,931,049 (GRCm38)	makesense	probably null
IGL02167:Epha8	APN	4	136,931,094 (GRCm38)	missense	probably damaging	1.00
R0255:Epha8	UTSW	4	136,940,286 (GRCm38)	missense	probably damaging	0.99
R0445:Epha8	UTSW	4	136,932,400 (GRCm38)	missense	probably damaging	1.00
R1757:Epha8	UTSW	4	136,931,478 (GRCm38)	splice site	probably null
R1911:Epha8	UTSW	4	136,936,314 (GRCm38)	missense	probably damaging	1.00
R1936:Epha8	UTSW	4	136,940,243 (GRCm38)	missense	probably benign	0.08
R2291:Epha8	UTSW	4	136,933,347 (GRCm38)	missense	probably damaging	1.00
R2359:Epha8	UTSW	4	136,946,032 (GRCm38)	missense	probably damaging	1.00
R2372:Epha8	UTSW	4	136,933,010 (GRCm38)	missense	probably damaging	1.00
R4581:Epha8	UTSW	4	136,933,464 (GRCm38)	missense	probably damaging	1.00
R4747:Epha8	UTSW	4	136,938,695 (GRCm38)	frame shift	probably null
R5156:Epha8	UTSW	4	136,938,726 (GRCm38)	missense	probably benign	0.14
R5164:Epha8	UTSW	4	136,945,672 (GRCm38)	missense	possibly damaging	0.93
R5335:Epha8	UTSW	4	136,931,935 (GRCm38)	missense	probably damaging	1.00
R5480:Epha8	UTSW	4	136,935,130 (GRCm38)	missense	probably benign
R5552:Epha8	UTSW	4	136,931,899 (GRCm38)	missense	probably damaging	1.00
R5830:Epha8	UTSW	4	136,936,390 (GRCm38)	nonsense	probably null
R6017:Epha8	UTSW	4	136,931,743 (GRCm38)	missense	probably damaging	1.00
R6450:Epha8	UTSW	4	136,931,899 (GRCm38)	missense	probably damaging	1.00
R6798:Epha8	UTSW	4	136,945,669 (GRCm38)	missense	probably benign	0.00
R6799:Epha8	UTSW	4	136,945,669 (GRCm38)	missense	probably benign	0.00
R7060:Epha8	UTSW	4	136,931,158 (GRCm38)	missense	probably damaging	1.00
R7297:Epha8	UTSW	4	136,945,913 (GRCm38)	missense	probably damaging	1.00
R7344:Epha8	UTSW	4	136,934,538 (GRCm38)	missense	probably benign	0.14
R7467:Epha8	UTSW	4	136,931,088 (GRCm38)	missense	possibly damaging	0.90
R7563:Epha8	UTSW	4	136,938,789 (GRCm38)	missense	possibly damaging	0.77
R7826:Epha8	UTSW	4	136,936,187 (GRCm38)	missense	probably benign	0.09
R7845:Epha8	UTSW	4	136,936,401 (GRCm38)	missense	probably benign	0.04
R7863:Epha8	UTSW	4	136,933,655 (GRCm38)	missense	probably damaging	1.00
R7904:Epha8	UTSW	4	136,931,739 (GRCm38)	missense	possibly damaging	0.95
R7918:Epha8	UTSW	4	136,934,566 (GRCm38)	missense	probably benign	0.12
R8177:Epha8	UTSW	4	136,945,663 (GRCm38)	missense	probably benign	0.00
R8244:Epha8	UTSW	4	136,938,586 (GRCm38)	missense	probably damaging	0.98
R8266:Epha8	UTSW	4	136,938,586 (GRCm38)	missense	probably damaging	0.98
R8268:Epha8	UTSW	4	136,938,586 (GRCm38)	missense	probably damaging	0.98
R8269:Epha8	UTSW	4	136,938,586 (GRCm38)	missense	probably damaging	0.98
R8289:Epha8	UTSW	4	136,938,586 (GRCm38)	missense	probably damaging	0.98
R8290:Epha8	UTSW	4	136,938,586 (GRCm38)	missense	probably damaging	0.98
R8294:Epha8	UTSW	4	136,938,586 (GRCm38)	missense	probably damaging	0.98
R8295:Epha8	UTSW	4	136,938,586 (GRCm38)	missense	probably damaging	0.98
R8299:Epha8	UTSW	4	136,938,586 (GRCm38)	missense	probably damaging	0.98
R8445:Epha8	UTSW	4	136,932,289 (GRCm38)	missense	probably benign	0.13
R8889:Epha8	UTSW	4	136,934,539 (GRCm38)	missense	probably benign	0.45
R8892:Epha8	UTSW	4	136,934,539 (GRCm38)	missense	probably benign	0.45
R8928:Epha8	UTSW	4	136,938,586 (GRCm38)	missense	probably damaging	0.98
R8965:Epha8	UTSW	4	136,938,586 (GRCm38)	missense	probably damaging	0.98
R8983:Epha8	UTSW	4	136,938,586 (GRCm38)	missense	probably damaging	0.98
R8984:Epha8	UTSW	4	136,938,586 (GRCm38)	missense	probably damaging	0.98
R8988:Epha8	UTSW	4	136,938,586 (GRCm38)	missense	probably damaging	0.98
R9081:Epha8	UTSW	4	136,938,586 (GRCm38)	missense	probably damaging	0.98
R9231:Epha8	UTSW	4	136,945,915 (GRCm38)	missense	probably damaging	1.00
R9262:Epha8	UTSW	4	136,931,684 (GRCm38)	missense	probably benign
R9370:Epha8	UTSW	4	136,946,200 (GRCm38)	missense	possibly damaging	0.94
R9466:Epha8	UTSW	4	136,935,103 (GRCm38)	missense	probably benign
R9478:Epha8	UTSW	4	136,938,586 (GRCm38)	missense	probably damaging	0.98
R9546:Epha8	UTSW	4	136,938,586 (GRCm38)	missense	probably damaging	0.98
R9547:Epha8	UTSW	4	136,938,586 (GRCm38)	missense	probably damaging	0.98
R9550:Epha8	UTSW	4	136,938,586 (GRCm38)	missense	probably damaging	0.98
R9585:Epha8	UTSW	4	136,938,586 (GRCm38)	missense	probably damaging	0.98
R9624:Epha8	UTSW	4	136,931,754 (GRCm38)	missense	probably damaging	1.00
R9686:Epha8	UTSW	4	136,938,586 (GRCm38)	missense	probably damaging	0.98
R9687:Epha8	UTSW	4	136,938,586 (GRCm38)	missense	probably damaging	0.98
R9690:Epha8	UTSW	4	136,938,586 (GRCm38)	missense	probably damaging	0.98
R9744:Epha8	UTSW	4	136,938,586 (GRCm38)	missense	probably damaging	0.98
R9763:Epha8	UTSW	4	136,938,586 (GRCm38)	missense	probably damaging	0.98
R9794:Epha8	UTSW	4	136,938,724 (GRCm38)	missense	probably benign	0.16
RF025:Epha8	UTSW	4	136,933,037 (GRCm38)	critical splice acceptor site	probably benign
RF054:Epha8	UTSW	4	136,933,037 (GRCm38)	critical splice acceptor site	probably benign
Z1176:Epha8	UTSW	4	136,938,696 (GRCm38)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TACTGGGATCCTGAGCTCTG -3'
(R):5'- ATGGGAGCATACTGGAGCAC -3'

Sequencing Primer
(F):5'- TCTGAGCACTCCAGGATCATCTAGG -3'
(R):5'- AGCATACTGGAGCACCTGGTG -3'

Posted On

2015-12-29