Incidental Mutation 'IGL02480:Efna1'
ID 295171
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 # IGL02480
Quality Score
Status
Chromosome 3
Chromosomal Location 89179037-89188258 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89179902 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 109 (E109G)
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: E172G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000029566
Gene: ENSMUSG00000027954
AA Change: E172G

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: E109G

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000112904
Gene: ENSMUSG00000027954
AA Change: E109G

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: E150G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000113098
Gene: ENSMUSG00000027954
AA Change: E150G

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: ENSMUST00000133575
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148095
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132445
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144777
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac T A 3: 59,946,908 (GRCm39) I202K probably benign Het
Abcc1 T A 16: 14,221,869 (GRCm39) S169T possibly damaging Het
Acsm1 A T 7: 119,255,265 (GRCm39) I389F possibly damaging Het
Actn2 T A 13: 12,291,364 (GRCm39) Q680L probably benign Het
Ankrd13d G A 19: 4,321,491 (GRCm39) P404S possibly damaging Het
Ankrd46 G T 15: 36,484,142 (GRCm39) probably benign Het
Arfip1 A G 3: 84,455,239 (GRCm39) probably null Het
Asb15 A T 6: 24,570,745 (GRCm39) L574F probably damaging Het
Cym T C 3: 107,120,838 (GRCm39) I256V probably benign Het
Cyp3a44 C T 5: 145,731,715 (GRCm39) E144K possibly damaging Het
Eif4a3l1 A T 6: 136,306,213 (GRCm39) I225F probably damaging Het
Eml1 C A 12: 108,487,955 (GRCm39) Q556K probably benign Het
Eml5 T G 12: 98,842,502 (GRCm39) T199P probably damaging Het
Entr1 T A 2: 26,275,132 (GRCm39) H342L probably damaging Het
Etl4 A C 2: 20,793,335 (GRCm39) M687L probably damaging Het
Fam199x C A X: 135,950,788 (GRCm39) T56K probably damaging Het
Fat4 A G 3: 39,064,579 (GRCm39) D4845G probably damaging Het
Gm4987 T A X: 45,544,973 (GRCm39) noncoding transcript Het
Gm5828 C A 1: 16,839,766 (GRCm39) noncoding transcript Het
Gm5930 T C 14: 44,575,087 (GRCm39) Y68C probably benign Het
Gucy1a1 C T 3: 82,005,040 (GRCm39) V582M probably damaging Het
Haghl G T 17: 26,002,033 (GRCm39) A220E probably damaging Het
Hsf5 G A 11: 87,522,483 (GRCm39) A359T possibly damaging Het
Igsf9 A T 1: 172,312,345 (GRCm39) probably benign Het
Igsf9 C A 1: 172,324,480 (GRCm39) D799E possibly damaging Het
Itga1 A T 13: 115,124,184 (GRCm39) F703I probably damaging Het
Kcna6 G A 6: 126,715,531 (GRCm39) P453S probably damaging Het
Lzic A T 4: 149,571,260 (GRCm39) N15I probably damaging Het
Or1j10 T G 2: 36,267,504 (GRCm39) C239G probably damaging Het
Or2n1d A G 17: 38,646,314 (GRCm39) R89G probably benign Het
Or4f54 A G 2: 111,122,858 (GRCm39) I82V possibly damaging Het
Or5p78 C T 7: 108,212,018 (GRCm39) T168I probably benign Het
P4ha1 T C 10: 59,179,574 (GRCm39) Y141H probably damaging Het
Paxx G A 2: 25,350,024 (GRCm39) P164S probably damaging Het
Pgd A G 4: 149,241,075 (GRCm39) V278A probably damaging Het
Pik3c2g A G 6: 139,798,526 (GRCm39) Y352C probably damaging Het
Pkd2l2 A G 18: 34,571,843 (GRCm39) N614S possibly damaging Het
Poli T C 18: 70,658,477 (GRCm39) T86A probably benign Het
Psd2 G A 18: 36,139,136 (GRCm39) R528H probably damaging Het
Ptchd4 G T 17: 42,813,431 (GRCm39) C444F probably benign Het
Ptpra C A 2: 130,346,181 (GRCm39) T114K probably benign Het
Rho A G 6: 115,912,505 (GRCm39) N123S probably benign Het
Setd5 A G 6: 113,120,770 (GRCm39) D993G probably damaging Het
Slc1a2 T C 2: 102,566,411 (GRCm39) L38P probably damaging Het
Slc2a7 G A 4: 150,244,569 (GRCm39) V346M possibly damaging Het
Slc43a1 A G 2: 84,669,928 (GRCm39) I7V probably benign Het
Spag9 C T 11: 93,999,413 (GRCm39) Q691* probably null Het
Timmdc1 A T 16: 38,342,763 (GRCm39) V45D probably null Het
Tlr8 T A X: 166,027,179 (GRCm39) H557L probably damaging Het
Other mutations in Efna1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00545:Efna1 APN 3 89,180,123 (GRCm39) missense probably benign 0.01
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 2015-04-16