Incidental Mutation 'R8268:Epha8'
ID 639531
Institutional Source Beutler Lab
Gene Symbol Epha8
Ensembl Gene ENSMUSG00000028661
Gene Name Eph receptor A8
Synonyms Eek, Hek3, EphA8
MMRRC Submission 067692-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8268 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
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

DomainStartEndE-ValueType
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 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 97% (37/38)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd8 A T 8: 71,909,961 (GRCm39) C396S probably benign Het
Ccpg1 G A 9: 72,913,001 (GRCm39) R179H probably damaging Het
Ciapin1 A G 8: 95,558,511 (GRCm39) V67A probably benign Het
Col7a1 A G 9: 108,802,057 (GRCm39) R2018G unknown Het
Dnah11 A T 12: 117,991,243 (GRCm39) Y2374* probably null Het
Dnah7b G T 1: 46,395,736 (GRCm39) M3879I probably benign Het
Gm12258 A C 11: 58,745,084 (GRCm39) probably null Het
Hpse A G 5: 100,846,907 (GRCm39) L174S probably damaging Het
Hspa8 A G 9: 40,714,448 (GRCm39) K248R probably damaging Het
Kcnt2 A C 1: 140,450,954 (GRCm39) R744S probably damaging Het
Klhl32 G A 4: 24,800,843 (GRCm39) probably benign Het
Mkrn3 A G 7: 62,068,270 (GRCm39) L507P probably damaging Het
Myom2 T G 8: 15,179,157 (GRCm39) F1330V probably damaging Het
Nr1d2 A G 14: 18,216,659 (GRCm38) S170P probably damaging Het
Nt5dc1 T C 10: 34,186,407 (GRCm39) D388G probably damaging Het
Or12e9 C A 2: 87,202,332 (GRCm39) A152E probably damaging Het
Or13a17 A G 7: 140,271,430 (GRCm39) D204G probably damaging Het
Or4a68 T C 2: 89,269,780 (GRCm39) N281S probably damaging Het
Or7a36 T A 10: 78,819,831 (GRCm39) V69E probably damaging Het
Pigg T A 5: 108,486,509 (GRCm39) S721T probably damaging Het
Prr5 T C 15: 84,587,192 (GRCm39) L323P probably benign Het
Rapgef2 T A 3: 78,993,263 (GRCm39) I742L probably benign Het
Rxrb A G 17: 34,254,750 (GRCm39) S302G probably benign Het
Setd5 T G 6: 113,126,651 (GRCm39) probably null Het
Sh3bgr A G 16: 96,025,674 (GRCm39) T187A unknown Het
Sh3pxd2a C T 19: 47,256,033 (GRCm39) R923H probably benign Het
Slc26a10 A G 10: 127,009,491 (GRCm39) probably null Het
Slc9a1 T A 4: 133,097,934 (GRCm39) V27E probably benign Het
Stard3nl A G 13: 19,560,629 (GRCm39) S49P probably damaging Het
Stxbp2 G A 8: 3,682,234 (GRCm39) V17I Het
Themis3 C T 17: 66,862,786 (GRCm39) E391K probably benign Het
Tia1 A G 6: 86,404,996 (GRCm39) probably benign Het
Tmem167 T C 13: 90,252,554 (GRCm39) F70S probably damaging Het
Trpm6 C A 19: 18,851,225 (GRCm39) Q1729K possibly damaging Het
Tsc2 A C 17: 24,818,984 (GRCm39) L1285W probably benign Het
Uchl4 A T 9: 64,142,791 (GRCm39) I91F probably damaging Het
Wdfy3 C T 5: 102,089,476 (GRCm39) A573T probably damaging Het
Zc2hc1c C T 12: 85,336,595 (GRCm39) S84F probably benign Het
Zfp143 A G 7: 109,690,991 (GRCm39) D515G probably benign Het
Other mutations in Epha8
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- AACTGATGACTGCCTCTGTGTTC -3'
(R):5'- TCACCTACAACGCAGTGTGC -3'

Sequencing Primer
(F):5'- CAGACTGAGTTCTGCTTTCCTATAGG -3'
(R):5'- AGTGGAACTCGCTTCGT -3'
Posted On 2020-07-28