Mutagenetix > Incidental Mutation

Incidental Mutation 'R9550:Epha8'

720425

Institutional Source

Beutler Lab

Gene Symbol

Epha8

Ensembl Gene

ENSMUSG00000028661

Gene Name

Eph receptor A8

Synonyms

Eek, Hek3, EphA8

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9550 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

136656730-136684127 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 136665897 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Methionine at position 420 (L420M)

Ref Sequence

ENSEMBL: ENSMUSP00000030420 (fasta)

Gene Model

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

AlphaFold

O09127

Predicted Effect

probably damaging
Transcript: ENSMUST00000030420
AA Change: L420M

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000030420
Gene: ENSMUSG00000028661
AA Change: L420M

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

0.1158

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 99.1%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	A	G	8: 44,022,120 (GRCm39)	C457R	probably damaging	Het
Adamts9	A	T	6: 92,878,429 (GRCm39)	V546E	probably benign	Het
Add3	G	A	19: 53,233,521 (GRCm39)	E641K	possibly damaging	Het
Anks1b	T	A	10: 90,412,360 (GRCm39)	M1K	probably null	Het
C1s2	G	A	6: 124,605,253 (GRCm39)	Q361*	probably null	Het
Casp4	T	C	9: 5,328,465 (GRCm39)	S316P	probably damaging	Het
Cby2	A	G	14: 75,820,603 (GRCm39)	V374A	probably damaging	Het
Cdyl	A	G	13: 36,000,147 (GRCm39)	T143A	probably benign	Het
Cep85	T	C	4: 133,858,598 (GRCm39)	T760A	probably damaging	Het
Chd2	A	G	7: 73,119,439 (GRCm39)	L1035P	probably damaging	Het
Cpne8	T	C	15: 90,453,760 (GRCm39)	I208V	probably benign	Het
Cux1	A	G	5: 136,340,387 (GRCm39)	L641P	probably damaging	Het
Dlgap1	T	A	17: 71,093,902 (GRCm39)	M741K	possibly damaging	Het
Dnajc16	T	C	4: 141,495,058 (GRCm39)	Y518C	possibly damaging	Het
Dtnb	A	G	12: 3,768,437 (GRCm39)	N343D	possibly damaging	Het
Dusp3	A	T	11: 101,872,668 (GRCm39)	S43T	probably benign	Het
Espn	C	T	4: 152,215,534 (GRCm39)	R575H	probably damaging	Het
Gls	A	T	1: 52,251,373 (GRCm39)	L328*	probably null	Het
H2-T23	T	C	17: 36,342,712 (GRCm39)	D142G	probably damaging	Het
Hck	A	G	2: 152,976,651 (GRCm39)	M262V	probably benign	Het
Igkv14-126	G	T	6: 67,873,199 (GRCm39)	L13F	possibly damaging	Het
Muc2	C	T	7: 141,308,242 (GRCm39)	R913C	probably damaging	Het
Mypop	A	T	7: 18,726,245 (GRCm39)	T71S	probably damaging	Het
Nadsyn1	A	G	7: 143,353,615 (GRCm39)	I536T	probably damaging	Het
Obsl1	T	C	1: 75,474,910 (GRCm39)	E830G	possibly damaging	Het
Or1q1	T	A	2: 36,887,137 (GRCm39)	I105N	probably damaging	Het
Or8d2b	T	C	9: 38,788,937 (GRCm39)	V155A	probably benign	Het
Pcdha8	A	T	18: 37,127,399 (GRCm39)	Y627F	possibly damaging	Het
Polr1b	T	A	2: 128,962,205 (GRCm39)	S742R	unknown	Het
Ppm1e	A	T	11: 87,121,919 (GRCm39)	N679K	probably benign	Het
Raly	AGCAGCAGTGGTGGAGGAGGAGGCAGCAGTGGTGGAGG	AGCAGCAGTGGTGGAGG	2: 154,705,754 (GRCm39)		probably benign	Het
Rgs12	G	T	5: 35,196,665 (GRCm39)	G1430C	probably damaging	Het
Rhcg	T	C	7: 79,248,296 (GRCm39)	Y436C	probably damaging	Het
Ripor3	T	C	2: 167,822,807 (GRCm39)	D918G	probably benign	Het
Rlf	A	G	4: 121,003,620 (GRCm39)	F1897L	probably damaging	Het
Sin3a	T	C	9: 56,996,768 (GRCm39)	V99A	probably benign	Het
Slc22a29	A	T	19: 8,195,224 (GRCm39)	L137*	probably null	Het
Sufu	A	G	19: 46,385,675 (GRCm39)	Y45C	probably damaging	Het
Thsd1	C	T	8: 22,733,026 (GRCm39)		probably benign	Het
Tiam2	T	A	17: 3,559,706 (GRCm39)	L1249Q	probably damaging	Het
Toe1	C	T	4: 116,661,916 (GRCm39)	V418M	probably benign	Het
Trappc12	T	C	12: 28,761,985 (GRCm39)		probably null	Het
Triobp	A	G	15: 78,858,077 (GRCm39)	D1226G	probably damaging	Het
Zfhx4	T	C	3: 5,464,572 (GRCm39)	S1602P	probably damaging	Het
Zfp266	T	C	9: 20,410,482 (GRCm39)	K565R	probably damaging	Het
Zfp319	T	C	8: 96,055,025 (GRCm39)	T393A	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
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
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
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'- AACTGATGACTGCCTCTGTG -3'
(R):5'- ATCACCTACAACGCAGTGTGC -3'

Sequencing Primer
(F):5'- CAGACTGAGTTCTGCTTTCCTATAGG -3'
(R):5'- AGTGGAACTCGCTTCGT -3'

Posted On

2022-08-09