Incidental Mutation 'R7215:Edil3'
ID 561413
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 045287-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7215 (G1)
Quality Score 225.009
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 C at 88970169 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000080462 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043111] [ENSMUST00000081769] [ENSMUST00000118731]
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
Predicted Effect probably null
Transcript: ENSMUST00000118731
SMART Domains Protein: ENSMUSP00000112829
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
SCOP:d1d7pm_ 316 380 4e-20 SMART
Blast:FA58C 319 380 2e-9 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 98% (79/81)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik G A 13: 77,471,690 (GRCm39) V1032M possibly damaging Het
Abca13 T A 11: 9,238,405 (GRCm39) probably null Het
Adamts14 T A 10: 61,047,375 (GRCm39) H739L possibly damaging Het
Adgrl3 A G 5: 81,841,397 (GRCm39) E758G probably damaging Het
Ano3 T A 2: 110,496,277 (GRCm39) T826S probably damaging Het
Arhgap45 C T 10: 79,861,316 (GRCm39) T493I possibly damaging Het
Atg9b A C 5: 24,593,039 (GRCm39) W455G probably damaging Het
Atp4a A G 7: 30,416,785 (GRCm39) N496S possibly damaging Het
Bckdk T A 7: 127,504,282 (GRCm39) D60E possibly damaging Het
Blmh A T 11: 76,856,725 (GRCm39) K244* probably null Het
Btbd17 T C 11: 114,682,291 (GRCm39) I474V possibly damaging Het
C87436 A G 6: 86,439,662 (GRCm39) E451G possibly damaging Het
Camta1 T C 4: 151,229,194 (GRCm39) E546G probably damaging Het
Casp1 A G 9: 5,298,523 (GRCm39) probably null Het
Ccdc116 A G 16: 16,957,792 (GRCm39) Y456H probably damaging Het
Cep350 A C 1: 155,770,453 (GRCm39) S1812R possibly damaging Het
Chrna10 A G 7: 101,761,415 (GRCm39) L392P possibly damaging Het
Col22a1 A T 15: 71,842,181 (GRCm39) C434* probably null Het
Cxcl9 G A 5: 92,471,747 (GRCm39) Q98* probably null Het
Cyp2c54 G A 19: 40,034,626 (GRCm39) T348I probably damaging Het
Dnah7a G A 1: 53,657,509 (GRCm39) R756C probably damaging Het
Dnajc18 T C 18: 35,815,034 (GRCm39) T239A probably benign Het
Dnase2a A T 8: 85,636,399 (GRCm39) probably null Het
Dpyd A G 3: 119,059,681 (GRCm39) T793A probably benign Het
Ehd1 T A 19: 6,347,672 (GRCm39) I342N possibly damaging Het
Erbb4 A T 1: 68,378,619 (GRCm39) S341T probably benign Het
Ezh1 T A 11: 101,106,125 (GRCm39) T87S probably benign Het
Fam20b A T 1: 156,518,123 (GRCm39) W224R probably damaging Het
Galns A T 8: 123,326,087 (GRCm39) probably null Het
Gm13283 C T 4: 88,678,967 (GRCm39) probably benign Het
Gm49342 A T 14: 51,182,040 (GRCm39) M23L probably benign Het
Gm5114 T A 7: 39,060,795 (GRCm39) H18L probably benign Het
Gpr89 A G 3: 96,787,404 (GRCm39) W299R probably damaging Het
Hadha G T 5: 30,324,840 (GRCm39) N755K probably benign Het
Inpp5d A T 1: 87,628,940 (GRCm39) H620L probably benign Het
Klk1b3 T A 7: 43,849,828 (GRCm39) probably null Het
Macf1 T C 4: 123,401,097 (GRCm39) T663A probably damaging Het
Man1b1 A G 2: 25,240,402 (GRCm39) N601S probably benign Het
Mbtps1 A G 8: 120,251,307 (GRCm39) V605A possibly damaging Het
Med23 C G 10: 24,764,327 (GRCm39) D311E probably benign Het
Myo3a G T 2: 22,250,378 (GRCm39) D82Y possibly damaging Het
Nsd1 T A 13: 55,395,454 (GRCm39) D1121E probably benign Het
Odad1 C T 7: 45,586,046 (GRCm39) R148C probably damaging Het
Or4c116 G A 2: 88,942,845 (GRCm39) Q4* probably null Het
Or5al1 C T 2: 85,989,800 (GRCm39) V305I probably benign Het
Or8b3b A G 9: 38,584,743 (GRCm39) I12T probably benign Het
Otoa T C 7: 120,717,795 (GRCm39) V19A unknown Het
Pcdhb20 A T 18: 37,638,439 (GRCm39) T322S probably benign Het
Pecam1 T C 11: 106,586,745 (GRCm39) T257A probably benign Het
Pi16 G T 17: 29,538,072 (GRCm39) probably benign Het
Pik3c2g C T 6: 139,700,589 (GRCm39) T293M Het
Pira13 C T 7: 3,825,310 (GRCm39) C444Y unknown Het
Pkhd1l1 T A 15: 44,391,559 (GRCm39) C1542S possibly damaging Het
Prrc2b G A 2: 32,119,309 (GRCm39) G2172R probably damaging Het
Prrt1 A T 17: 34,848,677 (GRCm39) probably null Het
Ptprb T A 10: 116,174,681 (GRCm39) N784K possibly damaging Het
Rem1 C A 2: 152,470,069 (GRCm39) S18R probably damaging Het
Ripk4 G A 16: 97,548,523 (GRCm39) probably null Het
Scn8a G A 15: 100,927,711 (GRCm39) V1397I possibly damaging Het
Setbp1 T A 18: 78,900,052 (GRCm39) H1205L probably damaging Het
Shmt1 T C 11: 60,692,361 (GRCm39) I132V probably damaging Het
Slc24a1 T A 9: 64,835,785 (GRCm39) T781S unknown Het
Sncaip C T 18: 53,040,415 (GRCm39) Q870* probably null Het
Stab1 A T 14: 30,882,754 (GRCm39) N416K possibly damaging Het
Tcea1 A G 1: 4,937,706 (GRCm39) D26G probably damaging Het
Tcf20 A T 15: 82,737,690 (GRCm39) S1254T probably benign Het
Tead4 T A 6: 128,205,641 (GRCm39) I354F probably damaging Het
Tex36 G A 7: 133,189,147 (GRCm39) R142* probably null Het
Trav6d-3 T A 14: 52,962,799 (GRCm39) L12Q probably damaging Het
Trpc4 A G 3: 54,102,317 (GRCm39) T72A possibly damaging Het
Trrap G A 5: 144,733,945 (GRCm39) A933T probably benign Het
Tspoap1 T A 11: 87,661,315 (GRCm39) I589N probably benign Het
Ttll5 T A 12: 85,980,170 (GRCm39) V918E probably benign Het
Tut4 T C 4: 108,384,205 (GRCm39) Y1091H probably damaging Het
Txn2 A G 15: 77,811,886 (GRCm39) probably null Het
Ucn3 T G 13: 3,991,365 (GRCm39) T96P probably benign Het
Usp36 T C 11: 118,155,980 (GRCm39) E764G possibly damaging Het
Vmn2r23 A T 6: 123,681,323 (GRCm39) H77L probably benign Het
Vmn2r57 T C 7: 41,049,710 (GRCm39) T680A probably benign Het
Vwa3a T C 7: 120,394,853 (GRCm39) I891T possibly damaging Het
Zfp764l1 A G 7: 126,990,695 (GRCm39) S431P probably benign Het
Zhx2 A G 15: 57,687,039 (GRCm39) I803V probably benign 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
R1643:Edil3 UTSW 13 89,437,695 (GRCm39) critical splice donor site probably null
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
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'- TATCGCCCTTCCCAAGAATTTGAG -3'
(R):5'- TCCACACGGACTTTGCTAGC -3'

Sequencing Primer
(F):5'- GGAAAGACGTCCTCTTGAATCTCTG -3'
(R):5'- CTAGCACTTTGGCAGGGTATCC -3'
Posted On 2019-06-26