Incidental Mutation 'IGL01671:Defb45'
ID103490
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Defb45
Ensembl Gene ENSMUSG00000062124
Gene Namedefensin beta 45
SynonymsOTTMUSG00000015859
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock #IGL01671
Quality Score
Status
Chromosome2
Chromosomal Location152593191-152599399 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 152593411 bp
ZygosityHeterozygous
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

DomainStartEndE-ValueType
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