Incidental Mutation 'IGL00545:Efna1'
ID 6841
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Efna1
Ensembl Gene ENSMUSG00000027954
Gene Name ephrin A1
Synonyms Eplg1, B61, Epl1, EFL-1, LERK-1, Lerk1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00545
Quality Score
Status
Chromosome 3
Chromosomal Location 89179037-89188258 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 89180123 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 91 (N91I)
Ref Sequence ENSEMBL: ENSMUSP00000112904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029565] [ENSMUST00000029566] [ENSMUST00000107460] [ENSMUST00000118587] [ENSMUST00000118860] [ENSMUST00000130230] [ENSMUST00000185119]
AlphaFold P52793
Predicted Effect probably benign
Transcript: ENSMUST00000029565
SMART Domains Protein: ENSMUSP00000029565
Gene: ENSMUSG00000027953

DomainStartEndE-ValueType
Pfam:MtN3_slv 9 95 2.3e-32 PFAM
transmembrane domain 96 118 N/A INTRINSIC
Pfam:MtN3_slv 127 213 7e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000029566
AA Change: N154I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029566
Gene: ENSMUSG00000027954
AA Change: N154I

DomainStartEndE-ValueType
Pfam:Ephrin 18 147 1.2e-45 PFAM
low complexity region 187 202 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107460
SMART Domains Protein: ENSMUSP00000103084
Gene: ENSMUSG00000027953

DomainStartEndE-ValueType
Pfam:MtN3_slv 9 95 4.5e-33 PFAM
Pfam:MtN3_slv 92 159 6.8e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118587
AA Change: N91I

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000112904
Gene: ENSMUSG00000027954
AA Change: N91I

DomainStartEndE-ValueType
Pfam:Ephrin 1 90 2.2e-34 PFAM
low complexity region 124 139 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118860
AA Change: N132I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000113098
Gene: ENSMUSG00000027954
AA Change: N132I

DomainStartEndE-ValueType
Pfam:Ephrin 15 153 1.4e-58 PFAM
low complexity region 165 180 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000130230
SMART Domains Protein: ENSMUSP00000123276
Gene: ENSMUSG00000027953

DomainStartEndE-ValueType
Pfam:MtN3_slv 1 63 1.7e-23 PFAM
transmembrane domain 64 86 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130690
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144777
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148095
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133575
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132445
Predicted Effect probably benign
Transcript: ENSMUST00000185119
SMART Domains Protein: ENSMUSP00000139128
Gene: ENSMUSG00000027953

DomainStartEndE-ValueType
Pfam:MtN3_slv 9 74 1.6e-14 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 which binds to the EPHA2, EPHA4, EPHA5, EPHA6, and EPHA7 receptors. Two transcript variants that encode different isoforms were identified through sequence analysis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased cardiac muscle contractility associated with increased mitral and aortic valve thickness and increased epithelial to mesenchyme transition in outflow tract endocardial cushions. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 14 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 A T 8: 44,105,227 (GRCm39) N139K possibly damaging Het
Ano10 A G 9: 122,090,422 (GRCm39) V105A possibly damaging Het
Cep44 A T 8: 57,000,435 (GRCm39) V26E probably damaging Het
Cpne8 A G 15: 90,424,462 (GRCm39) V309A probably benign Het
Dnah7a A G 1: 53,496,905 (GRCm39) I3117T possibly damaging Het
Golph3 G A 15: 12,339,757 (GRCm39) R90H probably damaging Het
Hps3 G T 3: 20,073,971 (GRCm39) L332I possibly damaging Het
Marchf5 C T 19: 37,194,624 (GRCm39) S94L probably benign Het
Mrpl46 T A 7: 78,432,724 (GRCm39) Q18L probably benign Het
Nfe2l1 A G 11: 96,708,542 (GRCm39) V741A probably benign Het
Nlrp2 C T 7: 5,331,251 (GRCm39) A382T possibly damaging Het
Pdgfd C T 9: 6,288,621 (GRCm39) Q92* probably null Het
Ubxn4 A G 1: 128,187,202 (GRCm39) D65G possibly damaging Het
Zfp119b A C 17: 56,246,270 (GRCm39) H305Q probably damaging Het
Other mutations in Efna1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02480:Efna1 APN 3 89,179,902 (GRCm39) missense probably benign 0.02
R1816:Efna1 UTSW 3 89,183,694 (GRCm39) missense possibly damaging 0.77
R2269:Efna1 UTSW 3 89,183,646 (GRCm39) missense possibly damaging 0.72
R6916:Efna1 UTSW 3 89,183,695 (GRCm39) missense possibly damaging 0.65
R6932:Efna1 UTSW 3 89,180,091 (GRCm39) missense probably benign 0.39
R6965:Efna1 UTSW 3 89,186,782 (GRCm39) missense probably damaging 1.00
R8210:Efna1 UTSW 3 89,183,520 (GRCm39) missense probably damaging 0.99
R8924:Efna1 UTSW 3 89,183,635 (GRCm39) missense probably benign 0.20
Posted On 2012-04-20