Incidental Mutation 'R6254:Edil3'
ID 506016
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 044371-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6254 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 88969591-89471342 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 89467848 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 451 (I451N)
Ref Sequence ENSEMBL: ENSMUSP00000080462 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043111] [ENSMUST00000081769]
AlphaFold O35474
Predicted Effect probably damaging
Transcript: ENSMUST00000043111
AA Change: I441N

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000044652
Gene: ENSMUSG00000034488
AA Change: I441N

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 damaging
Transcript: ENSMUST00000081769
AA Change: I451N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000080462
Gene: ENSMUSG00000034488
AA Change: I451N

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 0.8804 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.4%
Validation Efficiency 100% (82/82)
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
Adam6b A T 12: 113,453,190 (GRCm39) L2F probably damaging Het
Ank2 T A 3: 126,735,453 (GRCm39) probably benign Het
Anpep T G 7: 79,488,981 (GRCm39) D369A probably damaging Het
App T C 16: 84,775,065 (GRCm39) E599G probably damaging Het
Asphd1 C T 7: 126,548,040 (GRCm39) V88I probably benign Het
Atad5 A T 11: 80,018,215 (GRCm39) I1389F probably damaging Het
Blm T C 7: 80,130,090 (GRCm39) N950S probably benign Het
Bsn A T 9: 107,989,065 (GRCm39) M2229K probably damaging Het
Cacna2d2 A G 9: 107,386,415 (GRCm39) M181V probably benign Het
Cadps2 T A 6: 23,329,162 (GRCm39) probably null Het
Cdh1 T A 8: 107,390,430 (GRCm39) V590D probably damaging Het
Cdk5rap2 G A 4: 70,282,269 (GRCm39) T160M probably damaging Het
Cfap97d2 A G 8: 13,756,043 (GRCm39) D26G possibly damaging Het
Cfhr4 A G 1: 139,682,128 (GRCm39) I156T probably damaging Het
Chrna5 A G 9: 54,913,740 (GRCm39) M325V probably benign Het
Clca3a2 A G 3: 144,507,895 (GRCm39) I116T probably benign Het
Cyp2c23 T C 19: 43,993,902 (GRCm39) K488R probably benign Het
Exph5 T G 9: 53,284,010 (GRCm39) S364A possibly damaging Het
Fam98c A G 7: 28,853,942 (GRCm39) S209P probably damaging Het
Fat3 G A 9: 15,907,441 (GRCm39) L2854F probably benign Het
Fbxo38 T C 18: 62,638,571 (GRCm39) probably null Het
Fermt2 T C 14: 45,713,516 (GRCm39) D205G probably damaging Het
Fmnl1 G A 11: 103,087,141 (GRCm39) probably benign Het
Fn3k A G 11: 121,325,894 (GRCm39) E27G probably damaging Het
Foxj2 A G 6: 122,815,098 (GRCm39) H378R probably damaging Het
Fubp1 A G 3: 151,938,045 (GRCm39) K140E possibly damaging Het
Gm7694 A T 1: 170,130,103 (GRCm39) C98* probably null Het
Golgb1 T C 16: 36,734,340 (GRCm39) S1196P probably damaging Het
Gpm6a G A 8: 55,500,431 (GRCm39) probably null Het
Hltf T A 3: 20,117,993 (GRCm39) N80K possibly damaging Het
Il1rap G A 16: 26,514,020 (GRCm39) R251H probably benign Het
Ipo7 T A 7: 109,648,267 (GRCm39) D688E probably benign Het
Itgal T A 7: 126,924,375 (GRCm39) N897K probably damaging Het
Itsn2 A G 12: 4,674,982 (GRCm39) probably null Het
Kcnk13 A G 12: 99,931,631 (GRCm39) probably benign Het
Kdm7a A G 6: 39,147,203 (GRCm39) L248P probably damaging Het
Kmt2c T C 5: 25,554,872 (GRCm39) E1254G possibly damaging Het
Ldah G A 12: 8,325,912 (GRCm39) probably benign Het
Lingo1 T A 9: 56,527,371 (GRCm39) D406V possibly damaging Het
Lratd2 A G 15: 60,695,650 (GRCm39) I32T probably damaging Het
Lrriq1 A T 10: 103,051,312 (GRCm39) V480E probably benign Het
Mtcl1 C T 17: 66,665,129 (GRCm39) R1142H probably benign Het
Mtmr3 G A 11: 4,447,381 (GRCm39) Q360* probably null Het
Muc6 T C 7: 141,237,380 (GRCm39) N252S probably benign Het
Naa20 T C 2: 145,745,240 (GRCm39) L4P probably damaging Het
Neb T A 2: 52,112,973 (GRCm39) I4274L probably benign Het
Noa1 A T 5: 77,457,516 (GRCm39) F130I probably benign Het
Nrg4 G T 9: 55,143,796 (GRCm39) H87N possibly damaging Het
Or51ai2 T A 7: 103,586,741 (GRCm39) H51Q probably benign Het
Or5m12 T A 2: 85,734,849 (GRCm39) Y183F probably damaging Het
P3h3 C T 6: 124,822,564 (GRCm39) E536K probably damaging Het
Pcdhb11 T C 18: 37,554,771 (GRCm39) S34P probably damaging Het
Pik3r1 T C 13: 101,825,914 (GRCm39) T71A possibly damaging Het
Plaur T A 7: 24,166,225 (GRCm39) C99S possibly damaging Het
Plekha5 G A 6: 140,532,162 (GRCm39) G501E probably damaging Het
Plxnd1 C T 6: 115,954,921 (GRCm39) V614M probably benign Het
Ppp2r3d T C 9: 101,025,786 (GRCm39) D307G possibly damaging Het
Prl3d3 C T 13: 27,341,453 (GRCm39) S28F possibly damaging Het
Prpf40a T C 2: 53,047,927 (GRCm39) M197V probably benign Het
Ptk7 C A 17: 46,883,568 (GRCm39) Q832H probably damaging Het
Qser1 T C 2: 104,620,435 (GRCm39) S126G probably benign Het
Rab3ip A T 10: 116,751,772 (GRCm39) C332S probably damaging Het
Raly C A 2: 154,699,286 (GRCm39) T30K probably damaging Het
Rbp2 G T 9: 98,372,700 (GRCm39) S13I probably benign Het
Rps6ka1 C T 4: 133,594,535 (GRCm39) M159I possibly damaging Het
Rufy3 C T 5: 88,732,168 (GRCm39) T57I probably benign Het
Samd4 A G 14: 47,254,088 (GRCm39) D184G probably damaging Het
Slc35f3 T C 8: 127,047,833 (GRCm39) C58R possibly damaging Het
Smarca4 T C 9: 21,611,173 (GRCm39) I1467T probably damaging Het
Spag17 T G 3: 99,972,901 (GRCm39) I1371S probably benign Het
Sptan1 T C 2: 29,897,561 (GRCm39) L1228P possibly damaging Het
Stk31 C T 6: 49,398,631 (GRCm39) A344V probably benign Het
Supt16 A G 14: 52,408,291 (GRCm39) W885R probably damaging Het
Tdrd9 T A 12: 111,992,334 (GRCm39) probably null Het
Tmod1 A G 4: 46,078,469 (GRCm39) probably null Het
Tnfsf13 A C 11: 69,575,309 (GRCm39) probably null Het
Trim75 C A 8: 65,436,094 (GRCm39) E119* probably null Het
Wdr6 T C 9: 108,452,110 (GRCm39) Y591C probably damaging Het
Wdr86 C T 5: 24,923,281 (GRCm39) R137H probably benign Het
Ythdf1 T A 2: 180,552,943 (GRCm39) Y424F probably damaging Het
Zfp984 G T 4: 147,840,643 (GRCm39) S69R possibly damaging Het
Zyg11a A G 4: 108,038,991 (GRCm39) F743L 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
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
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'- GATCCTCAAACATCCATGCCTTTG -3'
(R):5'- AGCTTCACACAGTTCATTTCG -3'

Sequencing Primer
(F):5'- TCAAACATCCATGCCTTTGTATAC -3'
(R):5'- CACACAGTTCATTTCGTGGAG -3'
Posted On 2018-02-28