Incidental Mutation 'IGL01671:Defb45'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Defb45
Ensembl Gene ENSMUSG00000062124
Gene Namedefensin beta 45
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock #IGL01671
Quality Score
Chromosomal Location152593191-152599399 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 152593411 bp
Amino Acid Change Lysine to Glutamic Acid at position 26 (K26E)
Ref Sequence ENSEMBL: ENSMUSP00000105460 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109834]
Predicted Effect probably benign
Transcript: ENSMUST00000109834
AA Change: K26E

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000105460
Gene: ENSMUSG00000062124
AA Change: K26E

signal peptide 1 19 N/A INTRINSIC
Pfam:Defensin_beta_2 23 52 2.9e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131096
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cdc7 C T 5: 106,983,245 P529S probably damaging Het
Dnajb8 T C 6: 88,222,920 L146S probably benign Het
Egln1 T C 8: 124,910,715 D399G probably benign Het
Ephb1 A T 9: 101,996,787 C563S probably damaging Het
Gad2 T A 2: 22,623,699 Y49* probably null Het
Gga2 A G 7: 121,994,856 S470P probably benign Het
Gm21276 G T 7: 38,764,727 noncoding transcript Het
Gm3115 G A 14: 4,084,189 C9Y probably benign Het
H2-M1 T C 17: 36,670,438 E235G probably damaging Het
Hfe2 T C 3: 96,528,491 V355A probably damaging Het
Hsp90b1 C T 10: 86,704,325 G41S probably benign Het
Mccc1 T C 3: 35,964,460 D575G probably benign Het
Metap2 T C 10: 93,871,478 probably benign Het
Myh7 T C 14: 54,972,924 T1775A probably damaging Het
Olfr1469 T A 19: 13,410,891 F107L probably benign Het
Olfr170 A G 16: 19,605,921 I249T probably benign Het
Olfr935 A G 9: 38,994,853 V194A probably benign Het
Pak7 T C 2: 136,116,373 D265G possibly damaging Het
Pex1 A G 5: 3,624,088 I793V probably benign Het
Prkdc A G 16: 15,667,745 I479V possibly damaging Het
Rhcg A C 7: 79,598,551 I435S probably benign Het
Slc9c1 A T 16: 45,560,315 T535S probably benign Het
Stab2 T C 10: 86,969,277 D279G possibly damaging Het
Wdr83 T C 8: 85,075,819 probably benign Het
Other mutations in Defb45
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4498001:Defb45 UTSW 2 152596474 start gained probably benign
R5888:Defb45 UTSW 2 152593234 utr 3 prime probably benign
Posted On2014-01-21