Incidental Mutation 'IGL02426:Epha4'
ID 292916
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Epha4
Ensembl Gene ENSMUSG00000026235
Gene Name Eph receptor A4
Synonyms Tyro1, Sek1, rb, Sek, Cek8, 2900005C20Rik, Hek8
Accession Numbers
Essential gene? Probably essential (E-score: 0.949) question?
Stock # IGL02426
Quality Score
Status
Chromosome 1
Chromosomal Location 77343822-77491725 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 77421514 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 323 (M323V)
Ref Sequence ENSEMBL: ENSMUSP00000139640 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027451] [ENSMUST00000186930] [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 benign
Transcript: ENSMUST00000027451
AA Change: M323V

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000027451
Gene: ENSMUSG00000026235
AA Change: M323V

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 benign
Transcript: ENSMUST00000186930
SMART Domains Protein: ENSMUSP00000140370
Gene: ENSMUSG00000026235

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
FN3 33 124 9.6e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000188797
AA Change: M323V

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000140954
Gene: ENSMUSG00000026235
AA Change: M323V

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: ENSMUST00000188952
AA Change: M323V

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000139640
Gene: ENSMUSG00000026235
AA Change: M323V

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 G A 16: 20,157,675 (GRCm39) T1294M probably damaging Het
Bad A G 19: 6,928,785 (GRCm39) S128G probably damaging Het
Casp9 T G 4: 141,539,515 (GRCm39) probably null Het
Ccdc39 T C 3: 33,879,547 (GRCm39) K507R possibly damaging Het
Cep76 A G 18: 67,767,987 (GRCm39) S182P probably benign Het
Cmklr2 T C 1: 63,222,827 (GRCm39) Y136C probably damaging Het
Cmtr2 A G 8: 110,948,322 (GRCm39) M211V possibly damaging Het
Cobl T A 11: 12,204,351 (GRCm39) K777* probably null Het
Cul9 T G 17: 46,834,184 (GRCm39) T1253P possibly damaging Het
Dmd T A X: 83,892,342 (GRCm39) L3002H probably damaging Het
Dnah9 C T 11: 66,015,979 (GRCm39) V421I probably benign Het
Eif4a2 A G 16: 22,929,399 (GRCm39) I234V probably benign Het
Fam47c A G X: 77,781,943 (GRCm39) D175G probably benign Het
Gm14178 T C 11: 99,638,341 (GRCm39) Het
Hes3 T C 4: 152,371,397 (GRCm39) N184S probably benign Het
Kdm6a A G X: 18,112,549 (GRCm39) E45G probably damaging Het
Kdr T C 5: 76,135,126 (GRCm39) K33E probably benign Het
Or2a52 A C 6: 43,144,022 (GRCm39) D10A probably benign Het
Or4k37 A T 2: 111,158,920 (GRCm39) D52V probably damaging Het
Or4k45 A T 2: 111,394,883 (GRCm39) I302K probably benign Het
Or52n4b A G 7: 108,144,187 (GRCm39) T150A probably benign Het
Or8h7 A G 2: 86,720,964 (GRCm39) L185S probably damaging Het
Pi4ka A T 16: 17,196,296 (GRCm39) probably benign Het
Pigk T A 3: 152,448,120 (GRCm39) probably null Het
Pikfyve A G 1: 65,290,771 (GRCm39) T1197A possibly damaging Het
Plppr4 T C 3: 117,115,944 (GRCm39) I638V probably benign Het
Pramel28 T C 4: 143,693,229 (GRCm39) D83G possibly damaging Het
Rtl9 T C X: 141,886,098 (GRCm39) V1170A probably damaging Het
Ryr3 A G 2: 112,731,250 (GRCm39) S687P possibly damaging Het
Skint5 T C 4: 113,797,981 (GRCm39) T201A probably benign Het
Socs5 G T 17: 87,442,320 (GRCm39) R420L probably damaging Het
Sos1 C T 17: 80,742,372 (GRCm39) S385N possibly damaging Het
Tomm34 A T 2: 163,906,875 (GRCm39) V106D probably damaging Het
Tubal3 T C 13: 3,982,750 (GRCm39) S177P probably damaging Het
Wbp2nl G A 15: 82,190,374 (GRCm39) A101T 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
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
R2504:Epha4 UTSW 1 77,359,628 (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
Posted On 2015-04-16