Incidental Mutation 'IGL02424:Epha7'
ID292848
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Epha7
Ensembl Gene ENSMUSG00000028289
Gene NameEph receptor A7
SynonymsEhk3, Hek11, Cek11, MDK1, Ebk, Mdk1
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.519) question?
Stock #IGL02424
Quality Score
Status
Chromosome4
Chromosomal Location28813131-28967499 bp(+) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) A to T at 28948790 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000103829 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029964] [ENSMUST00000080934] [ENSMUST00000108191] [ENSMUST00000108194]
Predicted Effect probably benign
Transcript: ENSMUST00000029964
SMART Domains Protein: ENSMUSP00000029964
Gene: ENSMUSG00000028289

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
EPH_lbd 32 205 3.24e-126 SMART
FN3 332 422 2.39e-8 SMART
FN3 443 524 3.12e-12 SMART
Pfam:EphA2_TM 557 630 4.4e-25 PFAM
TyrKc 633 890 8.84e-139 SMART
SAM 920 987 1.26e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000080934
SMART Domains Protein: ENSMUSP00000079735
Gene: ENSMUSG00000028289

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
EPH_lbd 32 205 3.24e-126 SMART
FN3 332 422 2.39e-8 SMART
FN3 443 524 3.12e-12 SMART
transmembrane domain 556 578 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108191
SMART Domains Protein: ENSMUSP00000103826
Gene: ENSMUSG00000028289

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
EPH_lbd 32 205 3.24e-126 SMART
FN3 332 422 2.39e-8 SMART
FN3 443 524 3.12e-12 SMART
Pfam:EphA2_TM 556 626 2.9e-23 PFAM
TyrKc 629 886 8.84e-139 SMART
SAM 916 983 1.26e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108194
SMART Domains Protein: ENSMUSP00000103829
Gene: ENSMUSG00000028289

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
EPH_lbd 32 205 3.24e-126 SMART
FN3 332 422 2.39e-8 SMART
FN3 443 524 3.12e-12 SMART
transmembrane domain 556 578 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129912
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. Increased expression of this gene is associated with multiple forms of carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
PHENOTYPE: Some homozygous mutants display anencephaly. Mutants also exhibit increased proliferation of neural progenitor cells in the lateral ventricle wall of the adult brain. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik A G 3: 138,174,705 probably benign Het
A930011G23Rik A G 5: 99,229,377 S404P probably damaging Het
A930011G23Rik G A 5: 99,229,382 P402L probably damaging Het
Abl1 G A 2: 31,801,132 V888I probably benign Het
Adcy9 G T 16: 4,288,597 N884K probably damaging Het
Alyref T C 11: 120,595,307 N176D probably benign Het
Amtn T C 5: 88,381,597 probably benign Het
Baz1b T C 5: 135,217,979 Y761H probably damaging Het
Cckar T A 5: 53,706,428 T64S possibly damaging Het
Csmd1 A G 8: 16,092,326 F1521S probably benign Het
Cyp11b1 T C 15: 74,839,236 T198A probably benign Het
Def8 G T 8: 123,459,648 L399F possibly damaging Het
Ets1 T A 9: 32,754,293 Y181* probably null Het
Fas A T 19: 34,327,034 M232L probably damaging Het
Fkbp10 T A 11: 100,415,956 V37E probably damaging Het
Galnt3 A G 2: 66,095,788 probably null Het
Gdap1 T C 1: 17,161,178 V249A probably damaging Het
Gm5356 T A 8: 89,186,966 noncoding transcript Het
Gm7732 A G 17: 21,129,447 noncoding transcript Het
Gpr3 G T 4: 133,211,094 A89E probably damaging Het
Kat2a A G 11: 100,711,147 probably null Het
Kit T G 5: 75,639,106 D499E probably benign Het
Kmt2a C T 9: 44,824,635 probably benign Het
Med12l T C 3: 59,092,722 L666P probably benign Het
Mmp2 T G 8: 92,836,007 C291G probably damaging Het
Neb A G 2: 52,264,191 Y2303H probably damaging Het
Olfr305 C A 7: 86,363,480 V286L probably benign Het
Olfr412 T A 11: 74,365,473 M268K probably benign Het
Olfr97 T C 17: 37,232,372 probably benign Het
Pde1b T A 15: 103,528,219 probably benign Het
Prl7a2 A C 13: 27,667,970 C9G probably null Het
Rabl6 A G 2: 25,587,457 V327A probably benign Het
Robo2 T A 16: 73,973,301 I516F possibly damaging Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Slc35a3 G A 3: 116,694,618 T140I possibly damaging Het
Slc38a7 A G 8: 95,841,572 V395A probably damaging Het
Stag3 T C 5: 138,291,366 L266P probably damaging Het
Stag3 T A 5: 138,281,985 C37* probably null Het
Strn A G 17: 78,684,351 S180P probably damaging Het
Sulf1 A G 1: 12,796,840 T83A probably benign Het
Vmn1r69 T C 7: 10,580,658 I49V probably benign Het
Vrk2 G A 11: 26,476,564 P387L probably benign Het
Xdh A T 17: 73,926,570 M183K probably benign Het
Other mutations in Epha7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00811:Epha7 APN 4 28961285 intron probably benign
IGL00849:Epha7 APN 4 28870662 missense possibly damaging 0.63
IGL00898:Epha7 APN 4 28938693 missense probably damaging 1.00
IGL02036:Epha7 APN 4 28950509 missense probably damaging 1.00
IGL02227:Epha7 APN 4 28821587 missense possibly damaging 0.85
IGL02237:Epha7 APN 4 28949325 splice site probably null
IGL02376:Epha7 APN 4 28951287 missense probably damaging 1.00
IGL02519:Epha7 APN 4 28821494 missense possibly damaging 0.91
IGL02522:Epha7 APN 4 28821494 missense possibly damaging 0.91
IGL02524:Epha7 APN 4 28821494 missense possibly damaging 0.91
IGL02602:Epha7 APN 4 28871877 missense possibly damaging 0.88
PIT4514001:Epha7 UTSW 4 28961355 nonsense probably null
R0001:Epha7 UTSW 4 28961279 intron probably benign
R0011:Epha7 UTSW 4 28962564 missense probably benign 0.03
R0011:Epha7 UTSW 4 28962564 missense probably benign 0.03
R0310:Epha7 UTSW 4 28961301 missense probably benign 0.33
R0373:Epha7 UTSW 4 28935700 splice site probably null
R0496:Epha7 UTSW 4 28821292 missense probably damaging 1.00
R0554:Epha7 UTSW 4 28951401 missense probably damaging 1.00
R0632:Epha7 UTSW 4 28821104 missense probably damaging 1.00
R1677:Epha7 UTSW 4 28947571 nonsense probably null
R1883:Epha7 UTSW 4 28950362 missense possibly damaging 0.58
R1919:Epha7 UTSW 4 28963969 missense possibly damaging 0.48
R1952:Epha7 UTSW 4 28950474 missense probably damaging 0.97
R1999:Epha7 UTSW 4 28938686 nonsense probably null
R2187:Epha7 UTSW 4 28942648 missense possibly damaging 0.63
R2308:Epha7 UTSW 4 28821503 missense possibly damaging 0.91
R2417:Epha7 UTSW 4 28947579 missense probably damaging 1.00
R3911:Epha7 UTSW 4 28938680 missense probably benign 0.01
R4350:Epha7 UTSW 4 28950393 missense probably damaging 0.98
R4688:Epha7 UTSW 4 28821367 missense probably damaging 1.00
R4702:Epha7 UTSW 4 28961425 missense probably damaging 1.00
R4957:Epha7 UTSW 4 28871892 missense probably damaging 0.99
R5364:Epha7 UTSW 4 28950557 missense probably damaging 1.00
R5661:Epha7 UTSW 4 28946217 intron probably null
R5820:Epha7 UTSW 4 28949365 missense probably damaging 1.00
R6038:Epha7 UTSW 4 28821521 missense probably damaging 1.00
R6038:Epha7 UTSW 4 28821521 missense probably damaging 1.00
R6592:Epha7 UTSW 4 28813482 critical splice donor site probably null
R6783:Epha7 UTSW 4 28950528 missense possibly damaging 0.94
R6991:Epha7 UTSW 4 28821489 missense probably damaging 1.00
R7152:Epha7 UTSW 4 28935826 missense possibly damaging 0.94
R7232:Epha7 UTSW 4 28951279 missense probably damaging 1.00
R7261:Epha7 UTSW 4 28813418 missense probably benign 0.04
Posted On2015-04-16