Incidental Mutation 'R1507:Edil3'
ID 168021
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 039555-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1507 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 88969591-89471342 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 89279831 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 170 (S170T)
Ref Sequence ENSEMBL: ENSMUSP00000080462 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043111] [ENSMUST00000081769] [ENSMUST00000118731]
AlphaFold O35474
Predicted Effect probably benign
Transcript: ENSMUST00000043111
AA Change: S160T

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000044652
Gene: ENSMUSG00000034488
AA Change: S160T

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: S170T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000080462
Gene: ENSMUSG00000034488
AA Change: S170T

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 damaging
Transcript: ENSMUST00000118731
AA Change: S170T

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112829
Gene: ENSMUSG00000034488
AA Change: S170T

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153974
Meta Mutation Damage Score 0.2160 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.7%
Validation Efficiency 100% (66/66)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003F12Rik T G 2: 154,391,539 (GRCm39) V102G probably benign Het
Adgrv1 T C 13: 81,620,699 (GRCm39) probably null Het
Ahnak T A 19: 8,987,441 (GRCm39) D2908E probably damaging Het
Aox1 A G 1: 58,143,610 (GRCm39) M1243V probably benign Het
Apobec2 T C 17: 48,730,003 (GRCm39) D221G possibly damaging Het
Bcas1 T C 2: 170,208,348 (GRCm39) D472G probably damaging Het
Btnl7-ps T A 17: 34,760,437 (GRCm39) noncoding transcript Het
Cd209d G T 8: 3,928,453 (GRCm39) Q11K possibly damaging Het
Cdc14a G A 3: 116,087,646 (GRCm39) T455I possibly damaging Het
Cep120 A G 18: 53,830,729 (GRCm39) S843P probably damaging Het
Cped1 A T 6: 22,122,260 (GRCm39) H380L probably damaging Het
Derl2 A T 11: 70,898,171 (GRCm39) W233R probably benign Het
Drd5 A T 5: 38,478,065 (GRCm39) I353F probably damaging Het
E330034G19Rik A T 14: 24,357,055 (GRCm39) Q197L possibly damaging Het
Gldc T A 19: 30,096,038 (GRCm39) T658S probably damaging Het
Gpr146 A G 5: 139,379,124 (GRCm39) M309V probably benign Het
H2bc18 A G 3: 96,177,189 (GRCm39) Y41C probably damaging Het
Hexim2 T A 11: 103,029,147 (GRCm39) C66* probably null Het
Htr2a T C 14: 74,943,419 (GRCm39) V333A probably damaging Het
Igdcc4 A G 9: 65,041,026 (GRCm39) E1065G probably damaging Het
Katnip T A 7: 125,465,524 (GRCm39) D1325E probably damaging Het
Kcnk9 T A 15: 72,384,083 (GRCm39) E365V possibly damaging Het
Kif28 T A 1: 179,563,571 (GRCm39) N135I probably damaging Het
Kmt2a A T 9: 44,729,700 (GRCm39) probably benign Het
Lamb2 A T 9: 108,367,581 (GRCm39) I1788F probably damaging Het
Lsm6 G A 8: 79,539,608 (GRCm39) R31* probably null Het
Mical3 T A 6: 121,019,199 (GRCm39) T8S probably benign Het
Ncapg2 T C 12: 116,424,186 (GRCm39) F1123S probably benign Het
Nprl2 A G 9: 107,420,191 (GRCm39) D30G probably benign Het
Or51l4 C T 7: 103,404,228 (GRCm39) R188H probably benign Het
Or5ac24 A T 16: 59,165,856 (GRCm39) D69E probably damaging Het
Or8b51 A T 9: 38,569,310 (GRCm39) I126N probably damaging Het
Parvg T A 15: 84,214,359 (GRCm39) V181E probably damaging Het
Pfas T C 11: 68,880,860 (GRCm39) T1106A probably benign Het
Plekhh1 A T 12: 79,126,224 (GRCm39) T1310S probably damaging Het
Potegl A G 2: 23,098,086 (GRCm39) Y88C probably damaging Het
Ptprj A G 2: 90,301,631 (GRCm39) V74A possibly damaging Het
Rapgef2 A T 3: 78,988,600 (GRCm39) probably benign Het
Rfx3 G T 19: 27,745,913 (GRCm39) T731K probably benign Het
Rnf31 A T 14: 55,836,439 (GRCm39) K634* probably null Het
Scp2 CACTTTAATAATACTTT CACTTT 4: 107,944,209 (GRCm39) probably null Het
Set A G 2: 29,959,106 (GRCm39) H101R probably damaging Het
Slc30a6 G T 17: 74,715,857 (GRCm39) V106F probably damaging Het
Slc47a1 A T 11: 61,250,344 (GRCm39) probably null Het
Spaca3 G A 11: 80,753,983 (GRCm39) R40H probably damaging Het
Srpra G A 9: 35,126,766 (GRCm39) R508H probably benign Het
Ston2 A T 12: 91,608,454 (GRCm39) I882N probably benign Het
Tenm3 A G 8: 48,740,857 (GRCm39) S1209P probably benign Het
Tmprss11g T C 5: 86,647,470 (GRCm39) T23A probably benign Het
Topors A G 4: 40,261,829 (GRCm39) V485A probably damaging Het
Tpgs1 T A 10: 79,511,620 (GRCm39) L254Q probably damaging Het
Traf3 A C 12: 111,227,194 (GRCm39) T336P probably benign Het
Ttn T A 2: 76,710,934 (GRCm39) probably benign Het
Ubr5 G A 15: 37,981,114 (GRCm39) R2388W probably damaging Het
Unc13a A G 8: 72,110,910 (GRCm39) S434P probably benign Het
Usp33 A G 3: 152,080,400 (GRCm39) I510M possibly damaging Het
Vmn1r65 C A 7: 6,012,108 (GRCm39) G42V probably benign Het
Xab2 A G 8: 3,666,031 (GRCm39) L262S possibly damaging Het
Yap1 A T 9: 7,953,141 (GRCm39) probably benign Het
Zbtb14 C G 17: 69,694,759 (GRCm39) I152M probably benign Het
Zfp609 A G 9: 65,702,059 (GRCm39) Y198H possibly damaging Het
Zfp629 T A 7: 127,211,033 (GRCm39) K259* probably null 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
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
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'- TCGGTTACAAAACACAAGACCAGAAGAG -3'
(R):5'- TCTCATCCCACTGTTACCTGAATCCA -3'

Sequencing Primer
(F):5'- AGAGCAGAGAGTGTAATAACTACC -3'
(R):5'- GCAGCTGTCCAGGCATTTAT -3'
Posted On 2014-04-13