Incidental Mutation 'IGL02366:Epha4'
ID290732
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Epha4
Ensembl Gene ENSMUSG00000026235
Gene NameEph receptor A4
Synonymsrb, Sek, Sek1, 2900005C20Rik, Cek8, Hek8, Tyro1
Accession Numbers

Genbank: NM_007936; MGI: 98277

Is this an essential gene? Probably essential (E-score: 0.895) question?
Stock #IGL02366
Quality Score
Status
Chromosome1
Chromosomal Location77367185-77515088 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to T at 77426711 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 386 (Y386*)
Ref Sequence ENSEMBL: ENSMUSP00000139640 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027451] [ENSMUST00000186930] [ENSMUST00000188797] [ENSMUST00000188952] [ENSMUST00000190149]
PDB Structure
THE CRYSTAL STRUCTURE OF AN EPH RECEPTOR SAM DOMAIN REVEALS A MECHANISM FOR MODULAR DIMERIZATION. [X-RAY DIFFRACTION]
Crystal structure of a mutant EphA4 kinase domain (Y742A) [X-RAY DIFFRACTION]
[]
Crystal structure of EphA4 kinase domain in complex with VUF 12058 [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF EPHA4 KINASE DOMAIN [X-RAY DIFFRACTION]
Crystal structure of EphA4 kinase domain in complex with Dasatinib. [X-RAY DIFFRACTION]
Predicted Effect probably null
Transcript: ENSMUST00000027451
AA Change: Y386*
SMART Domains Protein: ENSMUSP00000027451
Gene: ENSMUSG00000026235
AA Change: Y386*

DomainStartEndE-ValueType
EPH_lbd 30 204 1.35e-128 SMART
FN3 329 420 1.94e-8 SMART
FN3 441 522 9.18e-10 SMART
Pfam:EphA2_TM 548 618 1.7e-24 PFAM
TyrKc 621 878 1.91e-134 SMART
SAM 908 975 1.96e-20 SMART
Predicted Effect probably null
Transcript: ENSMUST00000186930
AA Change: Y90*
SMART Domains Protein: ENSMUSP00000140370
Gene: ENSMUSG00000026235
AA Change: Y90*

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
FN3 33 124 9.6e-11 SMART
Predicted Effect probably null
Transcript: ENSMUST00000188797
AA Change: Y386*
SMART Domains Protein: ENSMUSP00000140954
Gene: ENSMUSG00000026235
AA Change: Y386*

DomainStartEndE-ValueType
EPH_lbd 30 204 1.35e-128 SMART
FN3 329 420 1.94e-8 SMART
FN3 441 522 9.18e-10 SMART
Pfam:EphA2_TM 547 618 1.8e-27 PFAM
TyrKc 621 878 1.91e-134 SMART
SAM 908 975 1.96e-20 SMART
Predicted Effect probably null
Transcript: ENSMUST00000188952
AA Change: Y386*
SMART Domains Protein: ENSMUSP00000139640
Gene: ENSMUSG00000026235
AA Change: Y386*

DomainStartEndE-ValueType
EPH_lbd 30 204 1.35e-128 SMART
FN3 329 420 1.94e-8 SMART
FN3 441 522 9.18e-10 SMART
Pfam:EphA2_TM 547 618 1.8e-27 PFAM
TyrKc 621 878 1.91e-134 SMART
SAM 908 975 1.96e-20 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189934
Predicted Effect probably benign
Transcript: ENSMUST00000190149
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 belongs to 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. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]
PHENOTYPE: Mutants are known for their "hopping gait". Homozygotes for targeted null mutations show loss of limb alternation in locomotion and axon guidance defects of the corticospinal tract within medulla and spinal cord, resulting in aberrant midline projections. Heterozygotes show less severe phenotype. [provided by MGI curators]
Allele List at MGI

All alleles(66) : Targeted, knock-out(3) Targeted, other(9) Gene trapped(52) Spontaneous(2)

Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030458C11Rik T A 15: 12,810,773 H339L probably benign Het
Abcc1 T C 16: 14,467,979 probably benign Het
Ankrd55 T C 13: 112,318,460 Y3H probably damaging Het
Armcx4 A C X: 134,691,512 K723T possibly damaging Het
Brinp3 T A 1: 146,701,743 V172D possibly damaging Het
Cemip C T 7: 83,943,641 R1226Q probably benign Het
Cntn5 A T 9: 9,984,055 probably benign Het
Cyld T C 8: 88,729,753 V474A probably damaging Het
Dhx40 T C 11: 86,776,702 E537G probably damaging Het
Efhc1 A G 1: 20,960,262 N140D probably damaging Het
Eif6 A G 2: 155,826,172 V49A probably benign Het
Ggnbp2 T C 11: 84,841,601 K222R probably damaging Het
Gm5117 T C 8: 31,737,859 noncoding transcript Het
Gm5852 A T 3: 93,727,261 noncoding transcript Het
Hadha A G 5: 30,135,050 V243A probably benign Het
Hal A G 10: 93,503,528 N493S probably damaging Het
Insrr A G 3: 87,809,909 T731A possibly damaging Het
Irs4 A T X: 141,723,904 L432H probably damaging Het
Kdm4a T G 4: 118,160,506 probably null Het
Lhx4 T C 1: 155,705,188 D197G possibly damaging Het
Mllt10 T A 2: 18,065,087 M18K probably damaging Het
Nars T C 18: 64,503,528 T422A possibly damaging Het
Ncf2 A G 1: 152,835,073 D445G probably benign Het
Ndor1 C A 2: 25,247,981 G544V possibly damaging Het
Notch3 C A 17: 32,144,205 R1268L probably benign Het
Olfr1472 T C 19: 13,454,127 Y130C probably damaging Het
Olfr229 T C 9: 39,909,992 L63P probably damaging Het
Olfr616 A T 7: 103,564,415 V288D probably damaging Het
Olfr771 A T 10: 129,160,625 Y120N probably damaging Het
Osgep T C 14: 50,919,950 D72G probably damaging Het
Pank4 C T 4: 154,969,628 T88I probably benign Het
Pcgf6 T C 19: 47,050,455 E122G possibly damaging Het
Ppp1r21 A G 17: 88,547,662 H123R probably damaging Het
Prex1 A C 2: 166,580,427 L28R probably damaging Het
Rbl1 A T 2: 157,174,893 N595K probably benign Het
Rnf148 T C 6: 23,654,059 I313V probably benign Het
Rnf220 T C 4: 117,489,783 N144S probably benign Het
Sbno2 G A 10: 80,064,202 T577I probably damaging Het
Sez6 T C 11: 77,976,882 I875T probably damaging Het
Slco1a5 A T 6: 142,250,215 V354D possibly damaging Het
Slit2 A T 5: 48,304,068 T1486S possibly damaging Het
Snd1 T C 6: 28,707,150 probably benign Het
Sval3 T C 6: 41,969,725 probably benign Het
Tmem94 T C 11: 115,797,432 L1239P probably damaging Het
Trpm6 T C 19: 18,778,510 probably benign Het
Ttc9 A C 12: 81,631,610 D69A possibly damaging Het
Ttn A T 2: 76,763,236 L20687M probably benign Het
Zfp748 T A 13: 67,545,427 probably benign Het
Other mutations in Epha4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01315:Epha4 APN 1 77398557 missense probably benign 0.00
IGL01350:Epha4 APN 1 77506855 missense probably damaging 1.00
IGL01657:Epha4 APN 1 77426838 missense probably damaging 1.00
IGL01872:Epha4 APN 1 77383039 missense probably benign 0.03
IGL02426:Epha4 APN 1 77444877 missense probably benign 0.01
IGL02428:Epha4 APN 1 77506748 missense possibly damaging 0.94
IGL02706:Epha4 APN 1 77426845 missense probably damaging 1.00
IGL02716:Epha4 APN 1 77380965 missense probably damaging 1.00
IGL03348:Epha4 APN 1 77507172 missense possibly damaging 0.82
frog UTSW 1 77481076 intron probably benign
R0324:Epha4 UTSW 1 77383551 missense probably damaging 1.00
R0392:Epha4 UTSW 1 77506973 missense probably benign 0.00
R0538:Epha4 UTSW 1 77388541 missense probably damaging 1.00
R0562:Epha4 UTSW 1 77388487 missense probably benign 0.00
R0885:Epha4 UTSW 1 77382939 missense probably damaging 0.99
R1509:Epha4 UTSW 1 77380886 missense probably damaging 1.00
R1620:Epha4 UTSW 1 77374926 missense probably benign 0.31
R1624:Epha4 UTSW 1 77399692 missense probably damaging 1.00
R1654:Epha4 UTSW 1 77374768 splice site probably null
R1755:Epha4 UTSW 1 77387823 missense probably damaging 1.00
R1807:Epha4 UTSW 1 77374904 missense probably benign 0.05
R2046:Epha4 UTSW 1 77507162 missense probably damaging 1.00
R2504:Epha4 UTSW 1 77382991 missense probably damaging 1.00
R2509:Epha4 UTSW 1 77511702 missense possibly damaging 0.84
R2511:Epha4 UTSW 1 77511702 missense possibly damaging 0.84
R3441:Epha4 UTSW 1 77426696 missense possibly damaging 0.90
R3724:Epha4 UTSW 1 77426543 splice site probably benign
R3901:Epha4 UTSW 1 77380902 missense probably damaging 1.00
R3950:Epha4 UTSW 1 77399716 missense probably damaging 1.00
R3951:Epha4 UTSW 1 77399716 missense probably damaging 1.00
R3952:Epha4 UTSW 1 77399716 missense probably damaging 1.00
R4012:Epha4 UTSW 1 77390094 splice site probably benign
R4321:Epha4 UTSW 1 77507213 critical splice acceptor site probably null
R4422:Epha4 UTSW 1 77511717 missense probably damaging 0.99
R4898:Epha4 UTSW 1 77390075 nonsense probably null
R5072:Epha4 UTSW 1 77445002 missense probably damaging 1.00
R5270:Epha4 UTSW 1 77506607 missense probably damaging 1.00
R5281:Epha4 UTSW 1 77374867 missense probably benign
R5315:Epha4 UTSW 1 77388472 critical splice donor site probably null
R5531:Epha4 UTSW 1 77374876 missense probably benign
R5621:Epha4 UTSW 1 77515049 utr 5 prime probably benign
R5648:Epha4 UTSW 1 77398525 missense probably benign 0.25
R5747:Epha4 UTSW 1 77506883 missense probably damaging 0.99
R5829:Epha4 UTSW 1 77444994 missense probably benign 0.01
R6185:Epha4 UTSW 1 77507106 missense probably damaging 1.00
R6486:Epha4 UTSW 1 77383549 missense probably damaging 1.00
R6821:Epha4 UTSW 1 77382945 missense possibly damaging 0.88
R6978:Epha4 UTSW 1 77377583 missense probably damaging 1.00
R7039:Epha4 UTSW 1 77506785 missense probably damaging 1.00
R7216:Epha4 UTSW 1 77444984 missense probably damaging 1.00
R7270:Epha4 UTSW 1 77399785 missense probably damaging 1.00
R7444:Epha4 UTSW 1 77387916 missense probably damaging 1.00
R7737:Epha4 UTSW 1 77381012 missense probably damaging 1.00
R7763:Epha4 UTSW 1 77390031 critical splice donor site probably null
R7950:Epha4 UTSW 1 77507196 missense probably damaging 0.99
R8297:Epha4 UTSW 1 77506910 missense probably damaging 1.00
R8373:Epha4 UTSW 1 77507079 missense possibly damaging 0.60
R8429:Epha4 UTSW 1 77390036 missense probably benign 0.08
Z1088:Epha4 UTSW 1 77506662 missense possibly damaging 0.61
Z1176:Epha4 UTSW 1 77373733 makesense probably null
Z1176:Epha4 UTSW 1 77383011 missense probably damaging 1.00
Posted On2015-04-16