Incidental Mutation 'IGL03255:Defa26'
ID414609
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Defa26
Ensembl Gene ENSMUSG00000060070
Gene Namedefensin, alpha, 26
SynonymsDefcr26
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.111) question?
Stock #IGL03255
Quality Score
Status
Chromosome8
Chromosomal Location21618183-21618972 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 21618241 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 20 (D20V)
Ref Sequence ENSEMBL: ENSMUSP00000073950 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074343]
Predicted Effect probably damaging
Transcript: ENSMUST00000074343
AA Change: D20V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073950
Gene: ENSMUSG00000060070
AA Change: D20V

DomainStartEndE-ValueType
Pfam:Defensin_propep 1 51 1.9e-24 PFAM
DEFSN 64 92 1.57e-8 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012P17Rik A G 1: 158,969,351 noncoding transcript Het
Alpk3 A G 7: 81,092,562 D709G probably benign Het
AY761184 T C 8: 21,703,518 T29A possibly damaging Het
Capn3 G T 2: 120,489,708 R309L probably damaging Het
Card11 T C 5: 140,898,331 I398V possibly damaging Het
Cps1 T A 1: 67,145,801 Y162* probably null Het
Dnah8 T G 17: 30,741,381 L2244R probably damaging Het
Fhad1 T A 4: 141,972,880 N353I possibly damaging Het
Flt1 T A 5: 147,588,521 probably benign Het
Glyr1 G A 16: 5,048,757 probably null Het
Gm10220 A G 5: 26,116,901 S258P possibly damaging Het
Lama3 A T 18: 12,539,703 D845V probably damaging Het
Myh2 T A 11: 67,193,225 L1558Q probably damaging Het
Nelfb G T 2: 25,203,195 H482N probably benign Het
Olfr290 T C 7: 84,916,517 L246P possibly damaging Het
Olfr482 A G 7: 108,094,817 V251A probably damaging Het
Ppfia2 A G 10: 106,896,507 T972A possibly damaging Het
Slc5a4a G A 10: 76,150,512 V85M probably damaging Het
Slc6a12 T G 6: 121,354,287 C166G probably damaging Het
Tm7sf3 T C 6: 146,606,120 probably benign Het
Tmem94 G T 11: 115,792,068 probably benign Het
Tmod2 T C 9: 75,577,258 probably benign Het
Tmprss11c T A 5: 86,271,482 I73F probably damaging Het
Vmn1r10 A G 6: 57,113,926 M168V probably benign Het
Vmn2r77 T A 7: 86,811,923 M819K probably benign Het
Vmo1 C T 11: 70,514,410 probably null Het
Ywhab A G 2: 164,014,016 D104G probably benign Het
Other mutations in Defa26
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03230:Defa26 APN 8 21618298 missense probably damaging 1.00
R0370:Defa26 UTSW 8 21618859 missense probably benign
R6539:Defa26 UTSW 8 21618246 missense possibly damaging 0.79
Posted On2016-08-02