Incidental Mutation 'IGL00782:Defb11'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Defb11
Ensembl Gene ENSMUSG00000045337
Gene Namedefensin beta 11
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.101) question?
Stock #IGL00782
Quality Score
Chromosomal Location21905376-21906412 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 21905494 bp
Amino Acid Change Isoleucine to Valine at position 56 (I56V)
Ref Sequence ENSEMBL: ENSMUSP00000053932 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051965]
Predicted Effect probably benign
Transcript: ENSMUST00000051965
AA Change: I56V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000053932
Gene: ENSMUSG00000045337
AA Change: I56V

signal peptide 1 23 N/A INTRINSIC
DEFSN 37 67 3.54e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212313
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 A T 7: 119,573,168 E78V probably damaging Het
Atxn7 A G 14: 14,096,218 I508V possibly damaging Het
Cecr2 A G 6: 120,761,621 N1075S probably benign Het
Clcn3 A G 8: 60,922,792 I689T probably damaging Het
Cntnap3 T C 13: 64,745,805 probably benign Het
Ercc5 A G 1: 44,163,935 N244S probably damaging Het
Gabrg3 A G 7: 57,381,667 S42P probably damaging Het
Hcrtr2 A T 9: 76,230,497 probably benign Het
Jcad T C 18: 4,675,073 L945S probably benign Het
Lrp2 T C 2: 69,501,645 M1589V probably benign Het
Prkg1 C T 19: 30,578,753 probably benign Het
Samd1 T C 8: 83,999,617 F464S probably damaging Het
Slc35b3 A G 13: 38,943,140 S213P possibly damaging Het
Taar1 A G 10: 23,920,446 N14S probably benign Het
Tinf2 A G 14: 55,680,464 probably null Het
Utrn T C 10: 12,652,811 N2140S probably benign Het
Zfp780b T C 7: 27,964,761 D123G probably benign Het
Other mutations in Defb11
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2269:Defb11 UTSW 8 21905428 makesense probably null
R5067:Defb11 UTSW 8 21906336 missense probably damaging 0.96
R5826:Defb11 UTSW 8 21905494 missense probably benign 0.01
R7252:Defb11 UTSW 8 21905457 missense probably benign 0.00
X0064:Defb11 UTSW 8 21906346 missense probably null 0.96
Z1177:Defb11 UTSW 8 21906346 missense probably null 0.96
Posted On2012-12-06