Incidental Mutation 'IGL00960:Epha8'
ID27303
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Epha8
Ensembl Gene ENSMUSG00000028661
Gene NameEph receptor A8
SynonymsEphA8, Hek3, Eek
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00960
Quality Score
Status
Chromosome4
Chromosomal Location136929419-136956816 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 136951839 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000030420 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030420]
Predicted Effect probably null
Transcript: ENSMUST00000030420
SMART Domains Protein: ENSMUSP00000030420
Gene: ENSMUSG00000028661

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 C A 17: 46,323,745 R444L probably damaging Het
Baiap2 T A 11: 119,999,292 S460T possibly damaging Het
Cckar A G 5: 53,701,292 Y158H probably damaging Het
Cdk4 A G 10: 127,064,297 Y21C probably damaging Het
Entpd1 C T 19: 40,711,270 P42S probably benign Het
Fastkd1 A T 2: 69,694,653 probably benign Het
Fmnl2 A G 2: 53,123,482 D951G probably damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Kcnj5 T A 9: 32,322,423 T199S probably damaging Het
Med13 T C 11: 86,291,040 probably benign Het
Mycbp2 G T 14: 103,229,384 H1314Q possibly damaging Het
Ncapd2 A T 6: 125,173,848 S795T probably benign Het
Nf1 T C 11: 79,445,121 S1042P probably damaging Het
Nlgn1 C A 3: 25,912,697 L197F probably damaging Het
Nsun7 A G 5: 66,289,503 Y428C probably benign Het
Olfr976 A G 9: 39,956,159 Y259H probably damaging Het
Parp14 T C 16: 35,841,219 D1453G probably benign Het
Pcdhb8 A T 18: 37,355,973 I235F probably benign Het
Pclo T C 5: 14,675,220 V1364A unknown Het
Polq T C 16: 37,060,512 S734P probably damaging Het
Sco1 T C 11: 67,064,038 *290Q probably null Het
Slc22a3 A T 17: 12,425,610 I496N probably damaging Het
Slc5a8 T G 10: 88,921,765 I539S probably benign Het
Tecta A G 9: 42,359,080 F1311L possibly damaging Het
Tex261 A T 6: 83,775,668 I19N possibly damaging Het
Tfr2 T C 5: 137,571,692 V120A probably benign Het
Vmn2r71 A T 7: 85,624,374 S799C probably damaging Het
Zar1 G A 5: 72,577,285 T197I probably damaging Het
Zfa-ps A G 10: 52,543,947 noncoding transcript Het
Other mutations in Epha8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00946:Epha8 APN 4 136945810 missense probably damaging 1.00
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
R0255:Epha8 UTSW 4 136940286 missense probably damaging 0.99
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
R7928:Epha8 UTSW 4 136936401 missense probably benign 0.04
R7946:Epha8 UTSW 4 136933655 missense probably damaging 1.00
R7987:Epha8 UTSW 4 136931739 missense possibly damaging 0.95
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
Posted On2013-04-17