Incidental Mutation 'R2504:Epha4'
ID 252045
Institutional Source Beutler Lab
Gene Symbol Epha4
Ensembl Gene ENSMUSG00000026235
Gene Name Eph receptor A4
Synonyms Tyro1, Sek1, rb, Sek, Cek8, 2900005C20Rik, Hek8
MMRRC Submission 040412-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.950) question?
Stock # R2504 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 77343822-77491725 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 77359628 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Aspartic acid at position 742 (Y742D)
Ref Sequence ENSEMBL: ENSMUSP00000139640 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027451] [ENSMUST00000188797] [ENSMUST00000188952] [ENSMUST00000190149]
AlphaFold Q03137
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 damaging
Transcript: ENSMUST00000027451
AA Change: Y742D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027451
Gene: ENSMUSG00000026235
AA Change: Y742D

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 damaging
Transcript: ENSMUST00000188797
AA Change: Y742D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140954
Gene: ENSMUSG00000026235
AA Change: Y742D

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 damaging
Transcript: ENSMUST00000188952
AA Change: Y742D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139640
Gene: ENSMUSG00000026235
AA Change: Y742D

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 benign
Transcript: ENSMUST00000190149
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
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: 113 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T C 11: 119,909,681 (GRCm39) D28G probably benign Het
Abcg1 T A 17: 31,311,369 (GRCm39) S125T probably damaging Het
Actbl2 T C 13: 111,392,717 (GRCm39) S351P possibly damaging Het
Ankrd34b A G 13: 92,575,569 (GRCm39) probably null Het
BC051665 C T 13: 60,930,468 (GRCm39) V295I probably benign Het
C1qtnf2 A G 11: 43,381,983 (GRCm39) N265S probably damaging Het
Ccdc14 C T 16: 34,542,220 (GRCm39) R573* probably null Het
Cd55b A T 1: 130,337,612 (GRCm39) Y247N probably damaging Het
Celsr2 A T 3: 108,320,907 (GRCm39) V635E probably benign Het
Clec16a T C 16: 10,377,551 (GRCm39) probably benign Het
Clec4b1 A G 6: 123,042,904 (GRCm39) Y41C probably damaging Het
Cntn5 A T 9: 10,172,126 (GRCm39) D19E probably benign Het
Cop1 A G 1: 159,060,375 (GRCm39) N53S probably damaging Het
Cplane1 G A 15: 8,248,700 (GRCm39) E1750K probably damaging Het
Csad A T 15: 102,097,102 (GRCm39) M1K probably null Het
Cyb5rl A G 4: 106,938,142 (GRCm39) I200V probably benign Het
Cyp26a1 A G 19: 37,686,790 (GRCm39) T81A probably damaging Het
Cyp2d12 A T 15: 82,443,237 (GRCm39) H433L probably benign Het
D7Ertd443e T A 7: 133,951,208 (GRCm39) probably null Het
Dennd1b A G 1: 139,097,908 (GRCm39) probably benign Het
Dmap1 G T 4: 117,532,495 (GRCm39) T357K probably damaging Het
Dzip1 G T 14: 119,118,456 (GRCm39) T759K probably benign Het
Elmo2 A G 2: 165,140,607 (GRCm39) V300A probably damaging Het
Eml5 T C 12: 98,810,364 (GRCm39) D864G possibly damaging Het
Ep400 A G 5: 110,816,511 (GRCm39) V2670A probably damaging Het
Epha3 T A 16: 63,423,988 (GRCm39) I534F probably damaging Het
Ergic2 A G 6: 148,106,272 (GRCm39) probably null Het
Ero1a A T 14: 45,536,545 (GRCm39) probably null Het
Fam229a A G 4: 129,385,279 (GRCm39) D70G probably damaging Het
Fbn2 C T 18: 58,226,431 (GRCm39) R781Q probably damaging Het
Fbxo16 A T 14: 65,508,163 (GRCm39) probably benign Het
Fbxo39 T A 11: 72,208,111 (GRCm39) S154R probably benign Het
Fer T A 17: 64,298,575 (GRCm39) probably null Het
Filip1l A T 16: 57,391,410 (GRCm39) D428V probably damaging Het
Filip1l A G 16: 57,391,025 (GRCm39) I538V possibly damaging Het
Fsip2 T C 2: 82,809,954 (GRCm39) I2091T possibly damaging Het
Glyat A C 19: 12,628,762 (GRCm39) T186P possibly damaging Het
Gm10604 A G 4: 11,980,083 (GRCm39) S74P unknown Het
Gm4787 T G 12: 81,425,911 (GRCm39) K82N possibly damaging Het
Hectd4 T C 5: 121,358,683 (GRCm39) I50T unknown Het
Hectd4 T C 5: 121,402,030 (GRCm39) S373P possibly damaging Het
Hmcn1 A T 1: 150,562,618 (GRCm39) C2313* probably null Het
Hrob T C 11: 102,146,122 (GRCm39) Y133H possibly damaging Het
Igfn1 A T 1: 135,897,054 (GRCm39) S1171T probably benign Het
Ints8 T C 4: 11,241,642 (GRCm39) D267G probably benign Het
Itln1 A G 1: 171,356,727 (GRCm39) C251R probably damaging Het
Jcad C T 18: 4,674,026 (GRCm39) T596M probably damaging Het
Kcnj16 C T 11: 110,916,409 (GRCm39) T357M probably benign Het
Kif13a G A 13: 46,967,676 (GRCm39) T346M probably damaging Het
Klhl24 G A 16: 19,938,917 (GRCm39) A491T probably benign Het
Kntc1 C T 5: 123,916,410 (GRCm39) Q748* probably null Het
Krt25 T A 11: 99,208,122 (GRCm39) K369* probably null Het
Krt75 C T 15: 101,476,466 (GRCm39) R433Q probably benign Het
Krt76 A G 15: 101,793,293 (GRCm39) F582L unknown Het
Lysmd1 G A 3: 95,045,708 (GRCm39) V182I probably benign Het
Mab21l2 T A 3: 86,454,862 (GRCm39) E46V probably damaging Het
Magi2 A T 5: 20,563,934 (GRCm39) K355N probably damaging Het
Marchf10 T C 11: 105,276,398 (GRCm39) D630G probably damaging Het
Mast4 A T 13: 102,875,147 (GRCm39) I1215N probably damaging Het
Nckap1 G A 2: 80,360,562 (GRCm39) T523I probably benign Het
Nexmif T A X: 103,127,999 (GRCm39) D1306V probably damaging Het
Nfkb1 A C 3: 135,295,090 (GRCm39) I918R possibly damaging Het
Nt5el A G 13: 105,246,250 (GRCm39) I270M probably benign Het
Nup50 A T 15: 84,817,859 (GRCm39) T93S probably benign Het
Nwd2 T C 5: 63,961,717 (GRCm39) Y434H probably benign Het
Or13a28 T C 7: 140,218,397 (GRCm39) V261A probably benign Het
Osbpl1a C A 18: 13,038,088 (GRCm39) V288L probably benign Het
Pan3 A G 5: 147,463,846 (GRCm39) E562G possibly damaging Het
Pappa T A 4: 65,099,126 (GRCm39) Y548* probably null Het
Phf3 A T 1: 30,849,870 (GRCm39) L1181Q probably damaging Het
Phip T C 9: 82,797,392 (GRCm39) H537R possibly damaging Het
Pkhd1l1 T C 15: 44,348,824 (GRCm39) I240T probably damaging Het
Pole G A 5: 110,438,368 (GRCm39) probably null Het
Polq T A 16: 36,832,304 (GRCm39) S15T unknown Het
Prrt2 T C 7: 126,619,396 (GRCm39) E23G possibly damaging Het
Prss37 A T 6: 40,494,760 (GRCm39) probably null Het
Prune2 T C 19: 16,977,400 (GRCm39) L45P probably damaging Het
Psd A T 19: 46,313,352 (GRCm39) M6K possibly damaging Het
Psmd1 A G 1: 86,017,719 (GRCm39) E510G possibly damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Pxdn T A 12: 30,053,405 (GRCm39) I1194N probably damaging Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Rgmb C A 17: 16,027,909 (GRCm39) R270L probably benign Het
Rpgrip1l A G 8: 92,007,344 (GRCm39) probably null Het
Rps2 G A 17: 24,939,353 (GRCm39) probably benign Het
Rsbn1l G T 5: 21,107,364 (GRCm39) A550E probably damaging Het
S1pr4 C T 10: 81,335,138 (GRCm39) R112H probably benign Het
Scfd2 T C 5: 74,691,838 (GRCm39) N148S probably damaging Het
Scin C T 12: 40,131,705 (GRCm39) M276I probably benign Het
Sec24d T C 3: 123,147,255 (GRCm39) I708T possibly damaging Het
Skint11 T A 4: 114,086,009 (GRCm39) F41I possibly damaging Het
Slc15a4 A T 5: 127,694,303 (GRCm39) F44Y possibly damaging Het
Slc6a18 A G 13: 73,823,925 (GRCm39) Y72H probably benign Het
Slc7a11 A T 3: 50,332,195 (GRCm39) probably null Het
Slc7a14 G T 3: 31,291,650 (GRCm39) N209K possibly damaging Het
Sstr2 T C 11: 113,515,257 (GRCm39) C59R probably damaging Het
Stab1 A G 14: 30,884,997 (GRCm39) probably null Het
Stag1 G T 9: 100,748,263 (GRCm39) S475I probably damaging Het
Stxbp5l A G 16: 36,936,029 (GRCm39) Y1183H probably damaging Het
Svep1 A T 4: 58,135,628 (GRCm39) probably null Het
Tm9sf2 A G 14: 122,396,096 (GRCm39) T653A probably benign Het
Tmeff1 T C 4: 48,662,059 (GRCm39) S366P possibly damaging Het
Tnnt2 G T 1: 135,779,803 (GRCm39) W300L probably damaging Het
Traj32 A G 14: 54,423,560 (GRCm39) probably benign Het
Trp53bp2 A T 1: 182,269,204 (GRCm39) M223L probably benign Het
Tsga10 G A 1: 37,854,758 (GRCm39) T246M probably damaging Het
Txn2 A T 15: 77,810,870 (GRCm39) probably benign Het
Ubr3 T A 2: 69,768,542 (GRCm39) F450I probably damaging Het
Usp47 T C 7: 111,703,677 (GRCm39) probably null Het
Vars2 C T 17: 35,975,685 (GRCm39) R244Q probably damaging Het
Xrra1 T A 7: 99,546,803 (GRCm39) F251L probably damaging Het
Zfp804a G A 2: 82,087,863 (GRCm39) R564Q probably benign Het
Zfp983 T C 17: 21,877,883 (GRCm39) C29R probably damaging Het
Other mutations in Epha4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01315:Epha4 APN 1 77,375,194 (GRCm39) missense probably benign 0.00
IGL01350:Epha4 APN 1 77,483,492 (GRCm39) missense probably damaging 1.00
IGL01657:Epha4 APN 1 77,403,475 (GRCm39) missense probably damaging 1.00
IGL01872:Epha4 APN 1 77,359,676 (GRCm39) missense probably benign 0.03
IGL02366:Epha4 APN 1 77,403,348 (GRCm39) nonsense probably null
IGL02426:Epha4 APN 1 77,421,514 (GRCm39) missense probably benign 0.01
IGL02428:Epha4 APN 1 77,483,385 (GRCm39) missense possibly damaging 0.94
IGL02706:Epha4 APN 1 77,403,482 (GRCm39) missense probably damaging 1.00
IGL02716:Epha4 APN 1 77,357,602 (GRCm39) missense probably damaging 1.00
IGL03348:Epha4 APN 1 77,483,809 (GRCm39) missense possibly damaging 0.82
frog UTSW 1 77,481,076 (GRCm38) intron probably benign
R0324:Epha4 UTSW 1 77,360,188 (GRCm39) missense probably damaging 1.00
R0392:Epha4 UTSW 1 77,483,610 (GRCm39) missense probably benign 0.00
R0538:Epha4 UTSW 1 77,365,178 (GRCm39) missense probably damaging 1.00
R0562:Epha4 UTSW 1 77,365,124 (GRCm39) missense probably benign 0.00
R0885:Epha4 UTSW 1 77,359,576 (GRCm39) missense probably damaging 0.99
R1509:Epha4 UTSW 1 77,357,523 (GRCm39) missense probably damaging 1.00
R1620:Epha4 UTSW 1 77,351,563 (GRCm39) missense probably benign 0.31
R1624:Epha4 UTSW 1 77,376,329 (GRCm39) missense probably damaging 1.00
R1654:Epha4 UTSW 1 77,351,405 (GRCm39) splice site probably null
R1755:Epha4 UTSW 1 77,364,460 (GRCm39) missense probably damaging 1.00
R1807:Epha4 UTSW 1 77,351,541 (GRCm39) missense probably benign 0.05
R2046:Epha4 UTSW 1 77,483,799 (GRCm39) missense probably damaging 1.00
R2509:Epha4 UTSW 1 77,488,339 (GRCm39) missense possibly damaging 0.84
R2511:Epha4 UTSW 1 77,488,339 (GRCm39) missense possibly damaging 0.84
R3441:Epha4 UTSW 1 77,403,333 (GRCm39) missense possibly damaging 0.90
R3724:Epha4 UTSW 1 77,403,180 (GRCm39) splice site probably benign
R3901:Epha4 UTSW 1 77,357,539 (GRCm39) missense probably damaging 1.00
R3950:Epha4 UTSW 1 77,376,353 (GRCm39) missense probably damaging 1.00
R3951:Epha4 UTSW 1 77,376,353 (GRCm39) missense probably damaging 1.00
R3952:Epha4 UTSW 1 77,376,353 (GRCm39) missense probably damaging 1.00
R4012:Epha4 UTSW 1 77,366,731 (GRCm39) splice site probably benign
R4321:Epha4 UTSW 1 77,483,850 (GRCm39) critical splice acceptor site probably null
R4422:Epha4 UTSW 1 77,488,354 (GRCm39) missense probably damaging 0.99
R4898:Epha4 UTSW 1 77,366,712 (GRCm39) nonsense probably null
R5072:Epha4 UTSW 1 77,421,639 (GRCm39) missense probably damaging 1.00
R5270:Epha4 UTSW 1 77,483,244 (GRCm39) missense probably damaging 1.00
R5281:Epha4 UTSW 1 77,351,504 (GRCm39) missense probably benign
R5315:Epha4 UTSW 1 77,365,109 (GRCm39) critical splice donor site probably null
R5531:Epha4 UTSW 1 77,351,513 (GRCm39) missense probably benign
R5621:Epha4 UTSW 1 77,491,686 (GRCm39) utr 5 prime probably benign
R5648:Epha4 UTSW 1 77,375,162 (GRCm39) missense probably benign 0.25
R5747:Epha4 UTSW 1 77,483,520 (GRCm39) missense probably damaging 0.99
R5829:Epha4 UTSW 1 77,421,631 (GRCm39) missense probably benign 0.01
R6185:Epha4 UTSW 1 77,483,743 (GRCm39) missense probably damaging 1.00
R6486:Epha4 UTSW 1 77,360,186 (GRCm39) missense probably damaging 1.00
R6821:Epha4 UTSW 1 77,359,582 (GRCm39) missense possibly damaging 0.88
R6978:Epha4 UTSW 1 77,354,220 (GRCm39) missense probably damaging 1.00
R7039:Epha4 UTSW 1 77,483,422 (GRCm39) missense probably damaging 1.00
R7216:Epha4 UTSW 1 77,421,621 (GRCm39) missense probably damaging 1.00
R7270:Epha4 UTSW 1 77,376,422 (GRCm39) missense probably damaging 1.00
R7444:Epha4 UTSW 1 77,364,553 (GRCm39) missense probably damaging 1.00
R7737:Epha4 UTSW 1 77,357,649 (GRCm39) missense probably damaging 1.00
R7763:Epha4 UTSW 1 77,366,668 (GRCm39) critical splice donor site probably null
R7950:Epha4 UTSW 1 77,483,833 (GRCm39) missense probably damaging 0.99
R8297:Epha4 UTSW 1 77,483,547 (GRCm39) missense probably damaging 1.00
R8373:Epha4 UTSW 1 77,483,716 (GRCm39) missense possibly damaging 0.60
R8429:Epha4 UTSW 1 77,366,673 (GRCm39) missense probably benign 0.08
R8907:Epha4 UTSW 1 77,483,422 (GRCm39) missense probably damaging 1.00
R9024:Epha4 UTSW 1 77,365,169 (GRCm39) missense possibly damaging 0.79
Z1088:Epha4 UTSW 1 77,483,299 (GRCm39) missense possibly damaging 0.61
Z1176:Epha4 UTSW 1 77,359,648 (GRCm39) missense probably damaging 1.00
Z1176:Epha4 UTSW 1 77,350,370 (GRCm39) makesense probably null
Predicted Primers PCR Primer
(F):5'- TCATGAGAGTGCATGCCATG -3'
(R):5'- TGACTTTGCTCAGAAAGGCC -3'

Sequencing Primer
(F):5'- CATGCCATGCCAGAGGTG -3'
(R):5'- GCCCGGAAATAATGCTGAGTTTC -3'
Posted On 2014-12-04