Incidental Mutation 'IGL02633:Efna3'
ID 301390
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Efna3
Ensembl Gene ENSMUSG00000028039
Gene Name ephrin A3
Synonyms LERK-3, Epl3, Ehk1-L, EFL-2
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.336) question?
Stock # IGL02633
Quality Score
Status
Chromosome 3
Chromosomal Location 89221206-89230272 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 89222749 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold O08545
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
Abitram T C 4: 56,806,131 (GRCm39) V181A possibly damaging Het
Aff4 T C 11: 53,300,198 (GRCm39) probably benign Het
Ap1g2 T C 14: 55,338,104 (GRCm39) probably null Het
Aspn A T 13: 49,705,363 (GRCm39) Y75F possibly damaging Het
Atm G A 9: 53,359,453 (GRCm39) T2783I probably damaging Het
Cacnb1 A T 11: 97,913,199 (GRCm39) I18N probably damaging Het
Casr T C 16: 36,336,017 (GRCm39) I97M probably damaging Het
Cnga2 T A X: 71,048,655 (GRCm39) probably benign Het
Coasy T A 11: 100,976,147 (GRCm39) L425Q probably damaging Het
Cps1 A G 1: 67,162,396 (GRCm39) T25A probably benign Het
Dnah1 T C 14: 31,006,772 (GRCm39) Y2181C probably benign Het
Eng A G 2: 32,563,286 (GRCm39) I281V probably damaging Het
Erlec1 T A 11: 30,898,430 (GRCm39) R14* probably null Het
Gbp9 C T 5: 105,231,431 (GRCm39) probably benign Het
Gzmg T C 14: 56,394,160 (GRCm39) M245V probably damaging Het
Kdm5a A G 6: 120,341,680 (GRCm39) I36V probably damaging Het
Krt87 A G 15: 101,389,095 (GRCm39) V79A probably damaging Het
Limd1 A T 9: 123,308,987 (GRCm39) probably benign Het
Lmo4 T C 3: 143,899,683 (GRCm39) S155G probably benign Het
Mrpl44 G A 1: 79,753,862 (GRCm39) V5I probably benign Het
Mrpl49 T C 19: 6,104,931 (GRCm39) T146A possibly damaging Het
Mrpl58 T C 11: 115,301,457 (GRCm39) probably benign Het
Nab1 C T 1: 52,529,292 (GRCm39) V202M probably damaging Het
Nav3 T A 10: 109,527,997 (GRCm39) M2229L probably benign Het
Notch2 C T 3: 98,024,013 (GRCm39) probably benign Het
Nub1 A G 5: 24,897,931 (GRCm39) I106V probably benign Het
Prom1 A T 5: 44,172,117 (GRCm39) S595T probably benign Het
Rbfox1 T A 16: 7,110,078 (GRCm39) S165R probably damaging Het
Sipa1l2 G A 8: 126,174,507 (GRCm39) T1257I probably damaging Het
Smarcc2 T C 10: 128,305,556 (GRCm39) S327P probably damaging Het
Tdpoz1 T C 3: 93,578,056 (GRCm39) M243V probably benign Het
Ttn G T 2: 76,549,289 (GRCm39) T23469K probably damaging Het
Ube2u T C 4: 100,339,971 (GRCm39) probably benign Het
Umodl1 T C 17: 31,208,462 (GRCm39) Y836H probably damaging Het
Vmn2r45 A G 7: 8,488,728 (GRCm39) Y101H probably benign Het
Vps13a T A 19: 16,697,772 (GRCm39) Q781L possibly damaging Het
Vwce G A 19: 10,625,858 (GRCm39) V457M probably damaging Het
Other mutations in Efna3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0786:Efna3 UTSW 3 89,223,880 (GRCm39) missense probably damaging 1.00
R4908:Efna3 UTSW 3 89,222,805 (GRCm39) missense probably damaging 0.98
R6175:Efna3 UTSW 3 89,230,105 (GRCm39) small deletion probably benign
R6789:Efna3 UTSW 3 89,223,769 (GRCm39) critical splice donor site probably null
R7252:Efna3 UTSW 3 89,223,971 (GRCm39) missense possibly damaging 0.88
R7749:Efna3 UTSW 3 89,223,947 (GRCm39) missense probably damaging 1.00
R9489:Efna3 UTSW 3 89,222,818 (GRCm39) missense probably benign 0.45
Posted On 2015-04-16