Incidental Mutation 'R6965:Efna1'
ID 541929
Institutional Source Beutler Lab
Gene Symbol Efna1
Ensembl Gene ENSMUSG00000027954
Gene Name ephrin A1
Synonyms Eplg1, B61, Epl1, EFL-1, LERK-1, Lerk1
MMRRC Submission 045075-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6965 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 89179037-89188258 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 89186782 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 23 (V23D)
Ref Sequence ENSEMBL: ENSMUSP00000113098 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029566] [ENSMUST00000118587] [ENSMUST00000118860]
AlphaFold P52793
Predicted Effect probably damaging
Transcript: ENSMUST00000029566
AA Change: V23D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029566
Gene: ENSMUSG00000027954
AA Change: V23D

DomainStartEndE-ValueType
Pfam:Ephrin 18 147 1.2e-45 PFAM
low complexity region 187 202 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118587
SMART Domains Protein: ENSMUSP00000112904
Gene: ENSMUSG00000027954

DomainStartEndE-ValueType
Pfam:Ephrin 1 90 2.2e-34 PFAM
low complexity region 124 139 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000118860
AA Change: V23D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113098
Gene: ENSMUSG00000027954
AA Change: V23D

DomainStartEndE-ValueType
Pfam:Ephrin 15 153 1.4e-58 PFAM
low complexity region 165 180 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.3%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 C T 7: 119,882,452 (GRCm39) Q1205* probably null Het
Als2 A G 1: 59,209,716 (GRCm39) F1422S possibly damaging Het
Anapc4 T C 5: 52,993,093 (GRCm39) V68A possibly damaging Het
Atmin T C 8: 117,683,777 (GRCm39) F479S probably damaging Het
Atp7b T C 8: 22,518,101 (GRCm39) T234A probably benign Het
Bpifa1 G A 2: 153,987,581 (GRCm39) G144S probably damaging Het
Brf2 A T 8: 27,614,586 (GRCm39) M200K probably benign Het
C1ql2 G A 1: 120,268,944 (GRCm39) C33Y probably damaging Het
Cdk18 A G 1: 132,045,319 (GRCm39) V269A probably damaging Het
Clcc1 T C 3: 108,580,625 (GRCm39) V313A probably damaging Het
Cntrl A T 2: 35,052,845 (GRCm39) T1117S probably benign Het
Col15a1 G A 4: 47,247,533 (GRCm39) E236K probably damaging Het
Comp T C 8: 70,829,164 (GRCm39) L278P probably damaging Het
Csnk2a1-ps3 C T 1: 156,352,119 (GRCm39) R107* probably null Het
Dlg5 C A 14: 24,199,498 (GRCm39) D1469Y probably damaging Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Epb41l4b T C 4: 57,040,915 (GRCm39) Y516C probably damaging Het
Esr2 T C 12: 76,168,631 (GRCm39) D526G probably damaging Het
Fam184b T C 5: 45,712,477 (GRCm39) T514A probably benign Het
Fcmr A C 1: 130,803,724 (GRCm39) E176A possibly damaging Het
Fry T A 5: 150,339,685 (GRCm39) N1485K possibly damaging Het
Fut2 A G 7: 45,300,305 (GRCm39) C156R probably damaging Het
Gm5431 T C 11: 48,786,027 (GRCm39) Y116C probably benign Het
Gm5493 T A 17: 22,967,047 (GRCm39) V61E possibly damaging Het
Golga4 A T 9: 118,377,847 (GRCm39) Q456L probably damaging Het
Gpam T C 19: 55,063,041 (GRCm39) Y757C probably damaging Het
Iqcg C T 16: 32,851,174 (GRCm39) A266T probably benign Het
Lta4h G T 10: 93,307,759 (GRCm39) G331* probably null Het
Macf1 C A 4: 123,302,538 (GRCm39) V655F probably benign Het
Map3k13 T A 16: 21,740,900 (GRCm39) D742E probably benign Het
Mrgprb2 G A 7: 48,202,597 (GRCm39) L43F probably damaging Het
N4bp1 T C 8: 87,571,461 (GRCm39) R846G probably damaging Het
Nbn T C 4: 15,970,863 (GRCm39) I282T probably benign Het
Ncor1 C T 11: 62,244,059 (GRCm39) probably null Het
Or4a77 G T 2: 89,487,009 (GRCm39) P259T probably damaging Het
Or4d10c A G 19: 12,066,120 (GRCm39) F12S possibly damaging Het
Or8b12 T A 9: 37,657,433 (GRCm39) M1K probably null Het
Pclo A G 5: 14,731,976 (GRCm39) probably benign Het
Pde9a G T 17: 31,662,861 (GRCm39) V97L probably benign Het
Ptch1 T C 13: 63,672,881 (GRCm39) Y771C possibly damaging Het
R3hcc1l G A 19: 42,551,284 (GRCm39) D94N probably damaging Het
Rnpep T A 1: 135,190,858 (GRCm39) K602* probably null Het
Rph3al T C 11: 75,745,276 (GRCm39) Y156C probably damaging Het
Rundc1 A T 11: 101,324,737 (GRCm39) Y481F possibly damaging Het
Serpinb9f A G 13: 33,509,859 (GRCm39) K17R possibly damaging Het
Smpd3 T C 8: 106,986,513 (GRCm39) H459R probably damaging Het
Spata31 A C 13: 65,070,648 (GRCm39) Q932P possibly damaging Het
Srgap3 C T 6: 112,700,090 (GRCm39) A963T probably damaging Het
Syne1 A T 10: 5,179,120 (GRCm39) F4451L possibly damaging Het
Tbc1d19 T A 5: 54,014,266 (GRCm39) probably null Het
Thap12 T A 7: 98,364,669 (GRCm39) V279D probably damaging Het
Tmprss6 T C 15: 78,328,328 (GRCm39) D544G probably damaging Het
Tox2 A G 2: 163,164,930 (GRCm39) *523W probably null Het
Txnrd1 T C 10: 82,717,652 (GRCm39) I212T probably benign Het
Unc80 T C 1: 66,685,725 (GRCm39) I2283T probably benign Het
Vmn1r176 A G 7: 23,535,099 (GRCm39) I18T possibly damaging Het
Vmn2r101 C T 17: 19,811,284 (GRCm39) T456I probably benign Het
Vmn2r79 T A 7: 86,651,100 (GRCm39) H166Q probably benign Het
Zer1 A G 2: 29,991,059 (GRCm39) V723A possibly damaging Het
Other mutations in Efna1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00545:Efna1 APN 3 89,180,123 (GRCm39) missense probably benign 0.01
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
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
Predicted Primers PCR Primer
(F):5'- AGCAGGCATGAGCAGGTTTC -3'
(R):5'- AAGAGGCCAGATTTGTGATCGTG -3'

Sequencing Primer
(F):5'- CAGGTTTCTGCCCTGGTCG -3'
(R):5'- GATCGTGGTGCCTACTGTAC -3'
Posted On 2018-11-28