Incidental Mutation 'IGL02633:Efna3'
ID301390
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Efna3
Ensembl Gene ENSMUSG00000028039
Gene Nameephrin A3
SynonymsEpl3, Ehk1-L, LERK-3, EFL-2
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.396) question?
Stock #IGL02633
Quality Score
Status
Chromosome3
Chromosomal Location89313899-89322965 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 89315442 bp
ZygosityHeterozygous
Amino Acid Change Serine to Alanine at position 230 (S230A)
Ref Sequence ENSEMBL: ENSMUSP00000029673 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029673] [ENSMUST00000200436]
Predicted Effect probably damaging
Transcript: ENSMUST00000029673
AA Change: S230A

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000029673
Gene: ENSMUSG00000028039
AA Change: S230A

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Ephrin 30 158 8.5e-43 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135144
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139439
Predicted Effect possibly damaging
Transcript: ENSMUST00000200436
AA Change: S204A

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000143539
Gene: ENSMUSG00000028039
AA Change: S204A

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Ephrin 30 159 4.4e-40 PFAM
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 encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. 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. This gene encodes an EFNA class ephrin. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit disorganised and elongated dendritic spine of CA1 pyramidal neuron and reduced hippocampal-dependent learning. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff4 T C 11: 53,409,371 probably benign Het
Ap1g2 T C 14: 55,100,647 probably null Het
Aspn A T 13: 49,551,887 Y75F possibly damaging Het
Atm G A 9: 53,448,153 T2783I probably damaging Het
Cacnb1 A T 11: 98,022,373 I18N probably damaging Het
Casr T C 16: 36,515,655 I97M probably damaging Het
Cnga2 T A X: 72,005,049 probably benign Het
Coasy T A 11: 101,085,321 L425Q probably damaging Het
Cps1 A G 1: 67,123,237 T25A probably benign Het
Dnah1 T C 14: 31,284,815 Y2181C probably benign Het
Eng A G 2: 32,673,274 I281V probably damaging Het
Erlec1 T A 11: 30,948,430 R14* probably null Het
Fam206a T C 4: 56,806,131 V181A possibly damaging Het
Gbp9 C T 5: 105,083,565 probably benign Het
Gzmg T C 14: 56,156,703 M245V probably damaging Het
Kdm5a A G 6: 120,364,719 I36V probably damaging Het
Krt83 A G 15: 101,491,214 V79A probably damaging Het
Limd1 A T 9: 123,479,922 probably benign Het
Lmo4 T C 3: 144,193,922 S155G probably benign Het
Mrpl44 G A 1: 79,776,145 V5I probably benign Het
Mrpl49 T C 19: 6,054,901 T146A possibly damaging Het
Mrpl58 T C 11: 115,410,631 probably benign Het
Nab1 C T 1: 52,490,133 V202M probably damaging Het
Nav3 T A 10: 109,692,136 M2229L probably benign Het
Notch2 C T 3: 98,116,697 probably benign Het
Nub1 A G 5: 24,692,933 I106V probably benign Het
Prom1 A T 5: 44,014,775 S595T probably benign Het
Rbfox1 T A 16: 7,292,214 S165R probably damaging Het
Sipa1l2 G A 8: 125,447,768 T1257I probably damaging Het
Smarcc2 T C 10: 128,469,687 S327P probably damaging Het
Tdpoz1 T C 3: 93,670,749 M243V probably benign Het
Ttn G T 2: 76,718,945 T23469K probably damaging Het
Ube2u T C 4: 100,482,774 probably benign Het
Umodl1 T C 17: 30,989,488 Y836H probably damaging Het
Vmn2r45 A G 7: 8,485,729 Y101H probably benign Het
Vps13a T A 19: 16,720,408 Q781L possibly damaging Het
Vwce G A 19: 10,648,494 V457M probably damaging Het
Other mutations in Efna3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0786:Efna3 UTSW 3 89316573 missense probably damaging 1.00
R4908:Efna3 UTSW 3 89315498 missense probably damaging 0.98
R6175:Efna3 UTSW 3 89322798 small deletion probably benign
R6789:Efna3 UTSW 3 89316462 critical splice donor site probably null
R7252:Efna3 UTSW 3 89316664 missense possibly damaging 0.88
R7749:Efna3 UTSW 3 89316640 missense probably damaging 1.00
Posted On2015-04-16