Incidental Mutation 'IGL00782:Defb11'
ID10108
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Defb11
Ensembl Gene ENSMUSG00000045337
Gene Namedefensin beta 11
SynonymsDefb8
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.101) question?
Stock #IGL00782
Quality Score
Status
Chromosome8
Chromosomal Location21905376-21906412 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 21905494 bp
ZygosityHeterozygous
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

DomainStartEndE-ValueType
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