Incidental Mutation 'R1643:Edil3'
ID 173700
Institutional Source Beutler Lab
Gene Symbol Edil3
Ensembl Gene ENSMUSG00000034488
Gene Name EGF-like repeats and discoidin I-like domains 3
Synonyms Del-1, Del1, developmental endothelial locus-1
MMRRC Submission 039679-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1643 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 88969591-89471342 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 89437695 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000080462 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043111] [ENSMUST00000081769]
AlphaFold O35474
Predicted Effect probably null
Transcript: ENSMUST00000043111
SMART Domains Protein: ENSMUSP00000044652
Gene: ENSMUSG00000034488

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
EGF 25 60 2.03e-6 SMART
EGF 67 107 1.62e-5 SMART
EGF_CA 109 145 4.32e-10 SMART
FA58C 147 304 3.7e-58 SMART
FA58C 308 466 1.44e-37 SMART
Predicted Effect probably null
Transcript: ENSMUST00000081769
SMART Domains Protein: ENSMUSP00000080462
Gene: ENSMUSG00000034488

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
EGF 25 60 2.03e-6 SMART
EGF 77 117 1.62e-5 SMART
EGF_CA 119 155 4.32e-10 SMART
FA58C 157 314 3.7e-58 SMART
FA58C 318 476 1.44e-37 SMART
Meta Mutation Damage Score 0.9498 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.5%
Validation Efficiency 99% (74/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an integrin ligand. It plays an important role in mediating angiogenesis and may be important in vessel wall remodeling and development. It also influences endothelial cell behavior. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation are viable and fertile with no noticeable fur phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700037C18Rik T A 16: 3,724,942 (GRCm39) K45* probably null Het
Abcc1 T A 16: 14,231,232 (GRCm39) Y457N probably damaging Het
Actr3b A G 5: 26,017,009 (GRCm39) D19G probably damaging Het
Adam39 T C 8: 41,279,523 (GRCm39) V638A possibly damaging Het
Adamts1 G T 16: 85,593,705 (GRCm39) probably benign Het
AI661453 A G 17: 47,778,791 (GRCm39) probably benign Het
Ank3 G A 10: 69,720,632 (GRCm39) S565N probably benign Het
Casd1 A G 6: 4,621,243 (GRCm39) E267G probably benign Het
Casr T C 16: 36,320,567 (GRCm39) K527R probably damaging Het
Cep128 A C 12: 91,292,306 (GRCm39) S248A probably damaging Het
Clic4 A G 4: 134,966,206 (GRCm39) V50A possibly damaging Het
Cylc2 C T 4: 51,225,173 (GRCm39) A36V probably benign Het
Derl1 T A 15: 57,741,955 (GRCm39) M127L probably benign Het
Dnah6 A G 6: 73,021,735 (GRCm39) V3529A possibly damaging Het
Dock1 G T 7: 134,700,508 (GRCm39) L1089F probably damaging Het
Efcab3 A T 11: 104,589,804 (GRCm39) T134S probably benign Het
Ephb1 A G 9: 101,874,024 (GRCm39) V550A probably damaging Het
Fcho2 G A 13: 98,921,324 (GRCm39) T187I probably benign Het
Gas6 T C 8: 13,515,902 (GRCm39) probably null Het
Gdf7 T C 12: 8,347,971 (GRCm39) Y442C probably damaging Het
Gm11567 G A 11: 99,770,623 (GRCm39) G187E unknown Het
Gm8674 T C 13: 50,055,394 (GRCm39) noncoding transcript Het
Ift80 T A 3: 68,823,490 (GRCm39) I591F probably benign Het
Kcnn3 C T 3: 89,427,804 (GRCm39) S10L unknown Het
Keg1 A G 19: 12,696,406 (GRCm39) I197V probably benign Het
Klhdc9 A G 1: 171,187,034 (GRCm39) probably null Het
Klhl11 A G 11: 100,353,841 (GRCm39) V660A probably benign Het
Lamc1 T C 1: 153,133,818 (GRCm39) probably benign Het
Lrrc73 G T 17: 46,566,266 (GRCm39) probably null Het
Lrriq1 G A 10: 103,050,685 (GRCm39) S689L probably benign Het
Magi2 A G 5: 20,910,504 (GRCm39) probably benign Het
Meis1 A G 11: 18,966,278 (GRCm39) S32P probably benign Het
Mia2 A G 12: 59,226,631 (GRCm39) probably null Het
Mlph T C 1: 90,869,456 (GRCm39) L486P probably damaging Het
Myh10 A G 11: 68,682,836 (GRCm39) E1090G probably damaging Het
Mylk T C 16: 34,696,005 (GRCm39) S247P probably benign Het
Naip2 C T 13: 100,298,489 (GRCm39) A516T possibly damaging Het
Ndufc1 T C 3: 51,315,664 (GRCm39) T25A probably benign Het
Nedd4l A G 18: 65,331,712 (GRCm39) Y636C probably damaging Het
Nfib A T 4: 82,416,916 (GRCm39) Y40N probably damaging Het
Niban3 A G 8: 72,052,808 (GRCm39) D94G probably benign Het
Nisch T C 14: 30,895,125 (GRCm39) D1057G probably damaging Het
P3h2 T C 16: 25,791,041 (GRCm39) H475R probably benign Het
Pde6c C A 19: 38,150,406 (GRCm39) T517K possibly damaging Het
Piezo2 T C 18: 63,215,986 (GRCm39) I994V probably benign Het
Pik3r4 A G 9: 105,564,351 (GRCm39) D1315G possibly damaging Het
Pip5k1c T G 10: 81,150,828 (GRCm39) V46G probably damaging Het
Pole A G 5: 110,465,711 (GRCm39) E1213G probably damaging Het
Prl7d1 T C 13: 27,896,114 (GRCm39) S88G possibly damaging Het
Prodh T A 16: 17,898,933 (GRCm39) N72I probably benign Het
Prrc2a G A 17: 35,375,930 (GRCm39) R907C probably damaging Het
Ptger2 T A 14: 45,226,423 (GRCm39) M1K probably null Het
Samd4b G C 7: 28,123,041 (GRCm39) Q6E probably damaging Het
Sec24a C T 11: 51,595,212 (GRCm39) R916H probably benign Het
Slc12a5 C A 2: 164,835,947 (GRCm39) D865E probably benign Het
Slc17a3 T C 13: 24,041,181 (GRCm39) probably benign Het
Ssrp1 T C 2: 84,871,529 (GRCm39) V317A possibly damaging Het
Stim1 A G 7: 102,035,307 (GRCm39) D95G possibly damaging Het
Taok2 A T 7: 126,475,110 (GRCm39) probably benign Het
Tcof1 T G 18: 60,949,300 (GRCm39) K1205T possibly damaging Het
Trim43c C T 9: 88,729,530 (GRCm39) R325C probably damaging Het
Trub2 T G 2: 29,667,948 (GRCm39) T231P probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Uty T A Y: 1,152,054 (GRCm39) D724V probably damaging Het
Vmn2r98 A G 17: 19,301,170 (GRCm39) D724G probably damaging Het
Wdfy3 A G 5: 102,023,781 (GRCm39) I2442T possibly damaging Het
Wdfy4 T C 14: 32,795,542 (GRCm39) probably null Het
Zfp280b A G 10: 75,875,444 (GRCm39) H441R probably damaging Het
Zfp60 A T 7: 27,436,400 (GRCm39) Q7L probably damaging Het
Zzef1 T C 11: 72,717,028 (GRCm39) L406S probably damaging Het
Other mutations in Edil3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00900:Edil3 APN 13 89,437,652 (GRCm39) missense probably benign 0.40
IGL01628:Edil3 APN 13 89,467,945 (GRCm39) utr 3 prime probably benign
IGL02112:Edil3 APN 13 89,328,374 (GRCm39) missense probably damaging 1.00
IGL03123:Edil3 APN 13 89,279,855 (GRCm39) missense probably damaging 1.00
R0402:Edil3 UTSW 13 89,347,570 (GRCm39) splice site probably benign
R0608:Edil3 UTSW 13 89,332,968 (GRCm39) missense probably damaging 1.00
R0675:Edil3 UTSW 13 89,325,399 (GRCm39) missense probably damaging 0.96
R0735:Edil3 UTSW 13 89,325,297 (GRCm39) missense probably damaging 0.97
R0991:Edil3 UTSW 13 89,437,625 (GRCm39) nonsense probably null
R1507:Edil3 UTSW 13 89,279,831 (GRCm39) missense probably damaging 1.00
R2008:Edil3 UTSW 13 89,093,072 (GRCm39) splice site probably null
R3703:Edil3 UTSW 13 89,325,417 (GRCm39) missense probably benign 0.01
R4206:Edil3 UTSW 13 89,328,397 (GRCm39) missense probably damaging 1.00
R4258:Edil3 UTSW 13 89,325,272 (GRCm39) missense probably damaging 1.00
R4570:Edil3 UTSW 13 89,280,016 (GRCm39) intron probably benign
R4575:Edil3 UTSW 13 89,467,850 (GRCm39) missense probably damaging 1.00
R4576:Edil3 UTSW 13 89,467,850 (GRCm39) missense probably damaging 1.00
R4654:Edil3 UTSW 13 89,437,589 (GRCm39) missense probably damaging 1.00
R5420:Edil3 UTSW 13 89,279,891 (GRCm39) missense probably damaging 1.00
R5446:Edil3 UTSW 13 89,332,957 (GRCm39) missense possibly damaging 0.65
R5534:Edil3 UTSW 13 89,347,593 (GRCm39) missense probably benign 0.00
R5653:Edil3 UTSW 13 89,279,931 (GRCm39) missense probably damaging 1.00
R5663:Edil3 UTSW 13 89,190,627 (GRCm39) missense probably damaging 0.99
R5664:Edil3 UTSW 13 89,467,832 (GRCm39) missense probably damaging 1.00
R6179:Edil3 UTSW 13 88,970,108 (GRCm39) missense probably benign
R6254:Edil3 UTSW 13 89,467,848 (GRCm39) missense probably damaging 1.00
R6813:Edil3 UTSW 13 89,437,575 (GRCm39) missense probably damaging 1.00
R7138:Edil3 UTSW 13 89,279,847 (GRCm39) missense probably damaging 1.00
R7215:Edil3 UTSW 13 88,970,169 (GRCm39) critical splice donor site probably null
R7295:Edil3 UTSW 13 89,279,902 (GRCm39) nonsense probably null
R9490:Edil3 UTSW 13 89,347,591 (GRCm39) missense probably benign 0.00
Z1176:Edil3 UTSW 13 89,092,989 (GRCm39) missense probably benign 0.19
Z1177:Edil3 UTSW 13 88,970,131 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- ACAACGGGTTAAGTTATGGCATTGAAGG -3'
(R):5'- CCACATCTTAGGGCATTGTCTGGAAG -3'

Sequencing Primer
(F):5'- CCTACTAAGGTGACAGGCATCAT -3'
(R):5'- ttgtttctttctttcatttcctttcc -3'
Posted On 2014-04-24