Incidental Mutation 'IGL00900:Edil3'
ID28824
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Edil3
Ensembl Gene ENSMUSG00000034488
Gene NameEGF-like repeats and discoidin I-like domains 3
SynonymsDel-1, developmental endothelial locus-1, Del1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00900
Quality Score
Status
Chromosome13
Chromosomal Location88821472-89323223 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 89289533 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Asparagine at position 418 (H418N)
Ref Sequence ENSEMBL: ENSMUSP00000080462 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043111] [ENSMUST00000081769]
Predicted Effect probably benign
Transcript: ENSMUST00000043111
AA Change: H408N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000044652
Gene: ENSMUSG00000034488
AA Change: H408N

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 benign
Transcript: ENSMUST00000081769
AA Change: H418N

PolyPhen 2 Score 0.402 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000080462
Gene: ENSMUSG00000034488
AA Change: H418N

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
Coding Region Coverage
Validation Efficiency
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf T C 11: 84,470,557 probably benign Het
Agap3 G A 5: 24,476,368 probably benign Het
Angptl2 A T 2: 33,243,772 M369L probably benign Het
Arhgef11 A G 3: 87,683,560 D36G possibly damaging Het
Ccnt1 A G 15: 98,554,633 V134A probably damaging Het
Ces1e T C 8: 93,217,617 H191R probably damaging Het
Dhh A G 15: 98,898,220 probably benign Het
Fam161b T C 12: 84,355,969 I296V probably benign Het
Focad T A 4: 88,129,023 N86K probably damaging Het
Foxn1 C T 11: 78,371,283 G87S probably benign Het
Glipr1l2 T C 10: 112,097,982 Y220H probably benign Het
Hnrnpa1 A G 15: 103,243,739 probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Ipo11 T C 13: 106,847,444 M797V possibly damaging Het
Klhdc2 T A 12: 69,303,534 F118I probably benign Het
Mtap T A 4: 89,172,357 Y221* probably null Het
Myh2 T C 11: 67,179,384 V414A probably damaging Het
Ncor2 A T 5: 125,025,784 Y1999N probably damaging Het
Olfr1167 A G 2: 88,149,260 F253S possibly damaging Het
Oxsm A G 14: 16,242,023 S249P probably damaging Het
Pabpc4l T A 3: 46,447,072 I46F possibly damaging Het
Pcnx2 A G 8: 125,863,236 probably benign Het
Rasal2 A G 1: 157,411,929 S4P possibly damaging Het
Reln A G 5: 21,980,117 V1534A probably damaging Het
Rnf138 T A 18: 21,020,960 D174E possibly damaging Het
Sh3pxd2a T A 19: 47,314,155 N162Y probably benign Het
Slc6a4 A T 11: 77,023,180 T519S probably benign Het
Slfn9 A T 11: 82,981,371 C846* probably null Het
Ssfa2 G A 2: 79,660,478 R980Q probably damaging Het
Trip12 A G 1: 84,724,764 S1945P possibly damaging Het
Vmn1r232 A G 17: 20,914,132 F69L probably benign Het
Zeb2 T C 2: 44,997,275 D545G probably damaging Het
Other mutations in Edil3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01628:Edil3 APN 13 89319826 utr 3 prime probably benign
IGL02112:Edil3 APN 13 89180255 missense probably damaging 1.00
IGL03123:Edil3 APN 13 89131736 missense probably damaging 1.00
R0402:Edil3 UTSW 13 89199451 splice site probably benign
R0608:Edil3 UTSW 13 89184849 missense probably damaging 1.00
R0675:Edil3 UTSW 13 89177280 missense probably damaging 0.96
R0735:Edil3 UTSW 13 89177178 missense probably damaging 0.97
R0991:Edil3 UTSW 13 89289506 nonsense probably null
R1507:Edil3 UTSW 13 89131712 missense probably damaging 1.00
R1643:Edil3 UTSW 13 89289576 critical splice donor site probably null
R2008:Edil3 UTSW 13 88944953 splice site probably null
R3703:Edil3 UTSW 13 89177298 missense probably benign 0.01
R4206:Edil3 UTSW 13 89180278 missense probably damaging 1.00
R4258:Edil3 UTSW 13 89177153 missense probably damaging 1.00
R4570:Edil3 UTSW 13 89131897 intron probably benign
R4575:Edil3 UTSW 13 89319731 missense probably damaging 1.00
R4576:Edil3 UTSW 13 89319731 missense probably damaging 1.00
R4654:Edil3 UTSW 13 89289470 missense probably damaging 1.00
R5420:Edil3 UTSW 13 89131772 missense probably damaging 1.00
R5446:Edil3 UTSW 13 89184838 missense possibly damaging 0.65
R5534:Edil3 UTSW 13 89199474 missense probably benign 0.00
R5653:Edil3 UTSW 13 89131812 missense probably damaging 1.00
R5663:Edil3 UTSW 13 89042508 missense probably damaging 0.99
R5664:Edil3 UTSW 13 89319713 missense probably damaging 1.00
R6179:Edil3 UTSW 13 88821989 missense probably benign
R6254:Edil3 UTSW 13 89319729 missense probably damaging 1.00
R6813:Edil3 UTSW 13 89289456 missense probably damaging 1.00
R7138:Edil3 UTSW 13 89131728 missense probably damaging 1.00
R7215:Edil3 UTSW 13 88822050 critical splice donor site probably null
R7295:Edil3 UTSW 13 89131783 nonsense probably null
Z1176:Edil3 UTSW 13 88944870 missense probably benign 0.19
Z1177:Edil3 UTSW 13 88822012 missense probably benign 0.03
Posted On2013-04-17