Incidental Mutation 'R8373:Epha4'
ID 646522
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 067741-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.949) question?
Stock # R8373 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 77343822-77491725 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 77483716 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 98 (Y98H)
Ref Sequence ENSEMBL: ENSMUSP00000027451 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027451] [ENSMUST00000186930] [ENSMUST00000188797] [ENSMUST00000188952] [ENSMUST00000190149]
AlphaFold Q03137
Predicted Effect possibly damaging
Transcript: ENSMUST00000027451
AA Change: Y98H

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000027451
Gene: ENSMUSG00000026235
AA Change: Y98H

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 possibly damaging
Transcript: ENSMUST00000188797
AA Change: Y98H

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000140954
Gene: ENSMUSG00000026235
AA Change: Y98H

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 possibly damaging
Transcript: ENSMUST00000188952
AA Change: Y98H

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000139640
Gene: ENSMUSG00000026235
AA Change: Y98H

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 T C 10: 14,343,078 (GRCm39) T290A probably benign Het
Aff4 C T 11: 53,291,094 (GRCm39) Q685* probably null Het
Ankmy1 A G 1: 92,823,816 (GRCm39) M150T probably damaging Het
Armc1 T C 3: 19,203,731 (GRCm39) Y65C probably damaging Het
Armc8 A G 9: 99,409,152 (GRCm39) V222A probably benign Het
Bcar1 A T 8: 112,442,370 (GRCm39) Y228* probably null Het
Cct2 T C 10: 116,896,729 (GRCm39) D158G possibly damaging Het
Cul1 T A 6: 47,491,997 (GRCm39) C426S possibly damaging Het
Deup1 G T 9: 15,503,671 (GRCm39) L297M possibly damaging Het
Dpp10 A G 1: 123,781,958 (GRCm39) S74P possibly damaging Het
Epn3 T G 11: 94,383,762 (GRCm39) D296A probably damaging Het
Eri2 A C 7: 119,371,820 (GRCm39) I252S probably benign Het
Gp9 C T 6: 87,755,994 (GRCm39) T3I probably benign Het
H2-Q5 T A 17: 35,613,432 (GRCm39) V55E Het
Kif3c G T 12: 3,416,089 (GRCm39) V37L probably benign Het
Lct A T 1: 128,231,577 (GRCm39) N757K probably damaging Het
Lhx8 A C 3: 154,030,295 (GRCm39) N112K probably damaging Het
Loxl3 T A 6: 83,025,872 (GRCm39) S373R possibly damaging Het
Mettl4 G A 17: 95,041,077 (GRCm39) T359I probably damaging Het
Mpp7 A G 18: 7,444,096 (GRCm39) S109P probably damaging Het
Nckap5 A G 1: 125,954,032 (GRCm39) V840A probably benign Het
Ncoa4 T A 14: 31,898,893 (GRCm39) L571Q probably damaging Het
Or13a18 A T 7: 140,190,208 (GRCm39) Y35F possibly damaging Het
Or2f1 T C 6: 42,721,280 (GRCm39) F103S probably damaging Het
Phgdh G A 3: 98,228,561 (GRCm39) T204I probably damaging Het
Pla2g4d C T 2: 120,107,980 (GRCm39) V310M probably null Het
Prss3b T G 6: 41,008,622 (GRCm39) T231P possibly damaging Het
Psmd12 C T 11: 107,388,450 (GRCm39) P421L probably damaging Het
Ptch1 A G 13: 63,688,982 (GRCm39) Y432H probably damaging Het
Rapgef1 G A 2: 29,600,243 (GRCm39) G655S probably damaging Het
Rilpl2 C A 5: 124,616,097 (GRCm39) A18S probably damaging Het
Srsf7 T C 17: 80,512,815 (GRCm39) R88G probably benign Het
St6galnac1 T C 11: 116,660,059 (GRCm39) K85E possibly damaging Het
Trip12 A T 1: 84,773,488 (GRCm39) S49R probably damaging Het
Vinac1 T A 2: 128,880,091 (GRCm39) I612F Het
Wdr48 A G 9: 119,734,560 (GRCm39) T160A probably damaging Het
Zfp704 G A 3: 9,674,502 (GRCm39) T93M unknown 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
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
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'- AATGTCCACCTGCGTGAAG -3'
(R):5'- AACTGTCCTCAGAGTGTGAAATAG -3'

Sequencing Primer
(F):5'- GCGTGAAGCTCTCATCAGC -3'
(R):5'- TCCTCAGAGTGTGAAATAGATTGG -3'
Posted On 2020-09-02