Incidental Mutation 'IGL01807:Epha8'
ID 155715
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Epha8
Ensembl Gene ENSMUSG00000028661
Gene Name Eph receptor A8
Synonyms Eek, Hek3, EphA8
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01807
Quality Score
Status
Chromosome 4
Chromosomal Location 136656730-136684127 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 136658993 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 887 (V887A)
Ref Sequence ENSEMBL: ENSMUSP00000030420 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030420]
AlphaFold O09127
Predicted Effect probably benign
Transcript: ENSMUST00000030420
AA Change: V887A

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000030420
Gene: ENSMUSG00000028661
AA Change: V887A

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
Coding Region Coverage
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 G T 6: 142,551,640 (GRCm39) L1223M probably damaging Het
Ano7 A G 1: 93,330,418 (GRCm39) E814G possibly damaging Het
Atf1 T C 15: 100,149,945 (GRCm39) probably benign Het
Bco2 T C 9: 50,457,158 (GRCm39) probably benign Het
Birc6 A G 17: 74,938,032 (GRCm39) I2625V probably benign Het
Bub1 A G 2: 127,654,897 (GRCm39) S545P probably benign Het
Cacna1i T A 15: 80,258,348 (GRCm39) I1173N probably damaging Het
Ccdc175 T C 12: 72,206,616 (GRCm39) E210G probably benign Het
Ccl2 G A 11: 81,926,513 (GRCm39) G9D possibly damaging Het
Chmp2b T A 16: 65,337,091 (GRCm39) T189S probably benign Het
Col4a1 A T 8: 11,297,056 (GRCm39) probably benign Het
Ecm1 A G 3: 95,643,891 (GRCm39) S236P probably damaging Het
Fam227a T C 15: 79,533,856 (GRCm39) M36V probably benign Het
Fbxo15 T A 18: 84,999,506 (GRCm39) probably benign Het
Mtmr4 A G 11: 87,494,976 (GRCm39) I423V possibly damaging Het
Ngly1 C T 14: 16,290,873 (GRCm38) L452F probably benign Het
Or52u1 T A 7: 104,237,091 (GRCm39) W27R probably damaging Het
Or5ac15 T C 16: 58,939,936 (GRCm39) T166A possibly damaging Het
Pak2 T C 16: 31,856,097 (GRCm39) K247E probably damaging Het
Pola2 A G 19: 6,003,187 (GRCm39) probably benign Het
Ppp1r9a C T 6: 5,158,248 (GRCm39) Q1219* probably null Het
Rasgrf1 T C 9: 89,873,566 (GRCm39) I625T probably damaging Het
Rpap1 T C 2: 119,613,189 (GRCm39) T120A possibly damaging Het
Scin T C 12: 40,134,288 (GRCm39) Y252C probably damaging Het
Slc5a9 A T 4: 111,734,737 (GRCm39) *686R probably null Het
Smc1b T A 15: 84,980,946 (GRCm39) D774V probably damaging Het
Uba6 C T 5: 86,270,270 (GRCm39) R838Q probably damaging Het
Ulk4 A G 9: 121,084,251 (GRCm39) S105P probably damaging Het
Vwa3a G A 7: 120,374,729 (GRCm39) probably null Het
Xirp2 A G 2: 67,345,375 (GRCm39) T2539A probably benign Het
Zfpm2 T C 15: 40,616,452 (GRCm39) probably null 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
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
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
Posted On 2014-02-04