Incidental Mutation 'IGL03114:Efnb3'
ID419351
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Efnb3
Ensembl Gene ENSMUSG00000003934
Gene Nameephrin B3
SynonymsEpl8, EFL-6, Elk-L3, ELF-3, LERK-8, NLERK-2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03114
Quality Score
Status
Chromosome11
Chromosomal Location69554092-69560205 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to T at 69556802 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000047825 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004036] [ENSMUST00000048139]
Predicted Effect probably benign
Transcript: ENSMUST00000004036
SMART Domains Protein: ENSMUSP00000004036
Gene: ENSMUSG00000003934

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:Ephrin 28 167 2.8e-45 PFAM
transmembrane domain 225 247 N/A INTRINSIC
low complexity region 264 291 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000048139
SMART Domains Protein: ENSMUSP00000047825
Gene: ENSMUSG00000041346

DomainStartEndE-ValueType
low complexity region 8 24 N/A INTRINSIC
WD40 144 181 5.75e-1 SMART
Blast:WD40 197 242 3e-18 BLAST
WD40 245 288 1.67e-1 SMART
WD40 295 337 3.58e-1 SMART
WD40 340 380 1.19e-6 SMART
WD40 384 425 8.25e0 SMART
Blast:WD40 435 471 1e-14 BLAST
low complexity region 479 491 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155894
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] EFNB3, a member of the ephrin gene family, is important in brain development as well as in its maintenance. Moreover, since levels of EFNB3 expression were particularly high in several forebrain subregions compared to other brain subregions, it may play a pivotal role in forebrain function. The EPH and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, particularly in the nervous system. EPH Receptors typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin ligands and receptors have been named by the Eph Nomenclature Committee (1997). Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are similarly divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for null mutations exhibit a hopping gait due to corticospinal tract defects, mutations that remove only the cytoplasmic domain of the protein do not result in the gait or CNS phenotypes, and a G244E mutation causes ataxia [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930021J03Rik A T 19: 29,717,132 S1654T probably benign Het
Abca13 T A 11: 9,528,999 H4282Q probably benign Het
Acta2 A G 19: 34,244,910 probably null Het
Arl10 A G 13: 54,575,766 probably benign Het
Avpr1a A G 10: 122,449,718 Y305C probably damaging Het
Bmpr2 T A 1: 59,867,444 N565K probably damaging Het
Boc A T 16: 44,486,752 S1035R probably benign Het
Ccdc7a T C 8: 129,026,689 N187S possibly damaging Het
Cntn5 C T 9: 9,748,452 E680K probably damaging Het
Copa T A 1: 172,119,268 Y1014* probably null Het
Csmd3 A G 15: 47,820,451 S1662P probably damaging Het
Cyp2e1 T C 7: 140,773,129 F360L possibly damaging Het
Egf A T 3: 129,736,880 L211Q probably damaging Het
Eno1 G A 4: 150,241,126 R56H probably benign Het
Fyb2 A G 4: 104,995,778 T552A probably damaging Het
Git2 G A 5: 114,733,857 probably benign Het
Gm5538 A T 3: 59,743,723 I89F possibly damaging Het
Gm5771 T A 6: 41,397,078 C205S probably damaging Het
Gtf2ird2 A G 5: 134,216,910 probably null Het
Hyal4 A T 6: 24,755,965 I61L probably benign Het
Kat14 T C 2: 144,375,965 probably null Het
Kif13b T C 14: 64,788,448 V1418A probably benign Het
Lcn12 T C 2: 25,493,262 K35E probably benign Het
Lyrm7 G T 11: 54,850,372 N45K possibly damaging Het
Micalcl G T 7: 112,397,557 G559V probably damaging Het
Mtrr A T 13: 68,564,322 C648* probably null Het
Muc5b C A 7: 141,858,819 S1834* probably null Het
Mup16 G A 4: 61,518,013 T101M probably benign Het
Myof A T 19: 37,903,861 L1148Q probably damaging Het
Nags A T 11: 102,148,988 I501F probably damaging Het
Nbeal1 A T 1: 60,278,727 Y672F probably damaging Het
Ncapg2 A G 12: 116,452,373 probably benign Het
Obscn A G 11: 59,000,539 S7056P unknown Het
Olfr593 T C 7: 103,212,721 I287T probably damaging Het
Pde2a C A 7: 101,508,683 probably benign Het
Piezo2 T C 18: 63,030,272 probably null Het
Pkhd1 C A 1: 20,198,171 D3328Y probably damaging Het
Plxdc2 T C 2: 16,650,124 V178A probably damaging Het
Prdx3 T C 19: 60,873,118 probably benign Het
Prkce T A 17: 86,654,555 D694E probably damaging Het
Ptdss1 T A 13: 66,993,994 Y405* probably null Het
Rad54l A T 4: 116,098,532 W608R probably damaging Het
Rassf6 G T 5: 90,608,790 probably benign Het
Sema5a A T 15: 32,673,427 I804F probably damaging Het
Slc15a2 A T 16: 36,751,905 I668N probably damaging Het
Thsd7b A G 1: 130,188,551 E1347G probably benign Het
Tmco3 T C 8: 13,298,205 probably benign Het
Ttn T C 2: 76,721,652 M31214V probably null Het
Uck1 G A 2: 32,258,322 R161C probably benign Het
Ugt2b5 T C 5: 87,128,350 Y355C probably damaging Het
Usp48 C A 4: 137,656,125 T1031K probably damaging Het
Vmn1r202 G A 13: 22,501,470 T259I probably benign Het
Vmn1r202 T A 13: 22,501,330 probably benign Het
Vmn2r90 T C 17: 17,733,509 I645T probably damaging Het
Vps18 T C 2: 119,293,651 V353A possibly damaging Het
Vwf C T 6: 125,599,363 Q469* probably null Het
Other mutations in Efnb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01995:Efnb3 APN 11 69556904 critical splice donor site probably null
IGL03328:Efnb3 APN 11 69557205 missense probably damaging 1.00
turtle UTSW 11 69557283 missense probably damaging 1.00
R0621:Efnb3 UTSW 11 69555972 missense probably damaging 1.00
R4366:Efnb3 UTSW 11 69555945 missense probably damaging 1.00
R6215:Efnb3 UTSW 11 69556765 missense probably benign 0.05
R6356:Efnb3 UTSW 11 69556140 missense probably benign 0.01
R7638:Efnb3 UTSW 11 69557220 missense possibly damaging 0.53
Posted On2016-08-02