Incidental Mutation 'IGL00972:Efna5'
ID29342
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Efna5
Ensembl Gene ENSMUSG00000048915
Gene Nameephrin A5
SynonymsEFL-5, Epl7, RAGS, AL-1, LERK-7, Ephrin-A5
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00972
Quality Score
Status
Chromosome17
Chromosomal Location62604184-62881317 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 62613379 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 168 (I168L)
Ref Sequence ENSEMBL: ENSMUSP00000076115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076840] [ENSMUST00000078839]
PDB Structure
EphB2 / EphrinA5 Complex Structure [X-RAY DIFFRACTION]
Ephrin A5 ligand structure [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000076840
AA Change: I168L

PolyPhen 2 Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000076115
Gene: ENSMUSG00000048915
AA Change: I168L

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Ephrin 29 158 4.5e-42 PFAM
low complexity region 214 228 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000078839
SMART Domains Protein: ENSMUSP00000077883
Gene: ENSMUSG00000048915

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Ephrin 26 164 2.4e-58 PFAM
low complexity region 187 201 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ephrin-A5, a member of the ephrin gene family, prevents axon bundling in cocultures of cortical neurons with astrocytes, a model of late stage nervous system development and differentiation. 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: Homozygotes for targeted null mutations exhibit abnormalities in establishing correct axonal connections involving the retinal, motor, vomeronasal, and tactile axons to their respective targets. Some mutants develop neural tube defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3100002H09Rik A G 4: 124,610,691 F23L probably damaging Het
Abcf3 A T 16: 20,551,684 M320L probably damaging Het
Adam4 A T 12: 81,420,649 H399Q probably damaging Het
Ank1 A G 8: 23,141,644 K140E probably damaging Het
Atg2a G A 19: 6,254,599 C1162Y probably damaging Het
Atp2b1 T A 10: 99,015,044 I34N probably damaging Het
Bin1 A T 18: 32,424,834 E260V probably benign Het
Birc2 G A 9: 7,833,715 S255L probably benign Het
Cdc42bpa A G 1: 180,074,684 Q502R probably benign Het
Cep170 A G 1: 176,735,696 V1584A probably benign Het
Commd3 A T 2: 18,674,665 R120S probably benign Het
Cyp39a1 A T 17: 43,701,543 I304L probably benign Het
Cyp3a44 A T 5: 145,779,724 M352K possibly damaging Het
Dna2 T C 10: 62,950,823 Y117H probably benign Het
Dnah6 A G 6: 73,083,157 probably benign Het
Dsc1 G A 18: 20,088,363 P685L probably benign Het
Ephx1 A G 1: 180,999,800 F96S probably benign Het
Fig4 A T 10: 41,251,788 I560K probably damaging Het
Fktn T A 4: 53,734,992 I210N probably damaging Het
Fmnl1 T C 11: 103,180,955 V96A probably damaging Het
Gabra1 T G 11: 42,133,626 E407D probably benign Het
Gm5277 A T 3: 78,892,286 noncoding transcript Het
H2-M10.5 A T 17: 36,773,335 E63V possibly damaging Het
Icam5 T A 9: 21,034,697 V275E probably damaging Het
Kel G A 6: 41,688,066 A588V possibly damaging Het
Klra5 T A 6: 129,906,605 E96D probably damaging Het
Limd1 C T 9: 123,480,076 T280I probably benign Het
Mul1 C A 4: 138,438,317 S95* probably null Het
Nlrp4a T C 7: 26,457,048 S733P probably benign Het
Ntn1 T A 11: 68,213,272 I517F possibly damaging Het
Ntrk3 T A 7: 78,247,322 M656L possibly damaging Het
Oacyl T G 18: 65,725,501 L226R possibly damaging Het
Olfr1314 A T 2: 112,092,094 N202K probably damaging Het
Olfr1378 A T 11: 50,969,119 M34L probably benign Het
Olfr199 A G 16: 59,216,466 I49T probably damaging Het
Pibf1 T A 14: 99,179,449 L486* probably null Het
Pla2g4c A G 7: 13,340,658 Y253C probably benign Het
Rims3 C A 4: 120,891,386 A268E probably benign Het
Rpl12 T C 2: 32,963,747 I129T probably benign Het
Rsl1 A T 13: 67,181,798 K103N probably benign Het
Scn11a A T 9: 119,793,938 W612R probably benign Het
Sdk2 G A 11: 113,854,384 T695M possibly damaging Het
Slc17a1 T A 13: 23,878,454 probably benign Het
Stam A T 2: 14,115,968 probably benign Het
Tacr3 T G 3: 134,932,355 N424K probably benign Het
Tas1r2 C T 4: 139,660,036 R240W probably damaging Het
Tle1 T C 4: 72,122,400 R648G probably damaging Het
Tmem92 T C 11: 94,782,428 D3G possibly damaging Het
Trip11 T C 12: 101,894,337 I250V probably null Het
Tspan8 C T 10: 115,844,139 probably benign Het
Vmn1r128 A G 7: 21,350,076 E235G probably benign Het
Vmn1r220 A G 13: 23,184,388 L46P probably damaging Het
Vmn2r9 T C 5: 108,849,037 E122G probably benign Het
Zfp27 A T 7: 29,894,958 N527K probably damaging Het
Other mutations in Efna5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02142:Efna5 APN 17 62607345 missense unknown
IGL02152:Efna5 APN 17 62651060 missense probably benign
IGL02534:Efna5 APN 17 62613389 nonsense probably null
IGL02556:Efna5 APN 17 62651028 missense probably damaging 0.99
R0041:Efna5 UTSW 17 62607472 splice site probably benign
R0265:Efna5 UTSW 17 62651073 missense probably damaging 1.00
R0422:Efna5 UTSW 17 62607419 missense probably benign 0.05
R0565:Efna5 UTSW 17 62881036 missense probably damaging 1.00
R2039:Efna5 UTSW 17 62881066 missense probably benign 0.00
R2570:Efna5 UTSW 17 62881028 missense probably benign 0.04
R4621:Efna5 UTSW 17 62651045 missense probably benign 0.00
R4622:Efna5 UTSW 17 62651045 missense probably benign 0.00
R5672:Efna5 UTSW 17 62881030 missense probably damaging 1.00
R5723:Efna5 UTSW 17 62607463 missense probably damaging 1.00
X0021:Efna5 UTSW 17 62607400 missense probably damaging 0.98
X0025:Efna5 UTSW 17 62651037 missense probably damaging 1.00
Posted On2013-04-17