Incidental Mutation 'IGL03255:Defa39'
ID 414610
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Defa39
Ensembl Gene ENSMUSG00000058618
Gene Name defensin, alpha, 39
Synonyms CRS1C-3, AY761184
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # IGL03255
Quality Score
Status
Chromosome 8
Chromosomal Location 22192540-22193663 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 22193534 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 29 (T29A)
Ref Sequence ENSEMBL: ENSMUSP00000071783 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071886]
AlphaFold Q9D848
Predicted Effect possibly damaging
Transcript: ENSMUST00000071886
AA Change: T29A

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000071783
Gene: ENSMUSG00000058618
AA Change: T29A

DomainStartEndE-ValueType
Pfam:Defensin_propep 1 51 1.8e-23 PFAM
low complexity region 67 91 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000121457
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158155
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012P17Rik A G 1: 158,796,921 (GRCm39) noncoding transcript Het
Alpk3 A G 7: 80,742,310 (GRCm39) D709G probably benign Het
Capn3 G T 2: 120,320,189 (GRCm39) R309L probably damaging Het
Card11 T C 5: 140,884,086 (GRCm39) I398V possibly damaging Het
Cps1 T A 1: 67,184,960 (GRCm39) Y162* probably null Het
Defa26 A T 8: 22,108,257 (GRCm39) D20V probably damaging Het
Dnah8 T G 17: 30,960,355 (GRCm39) L2244R probably damaging Het
Fhad1 T A 4: 141,700,191 (GRCm39) N353I possibly damaging Het
Flt1 T A 5: 147,525,331 (GRCm39) probably benign Het
Glyr1 G A 16: 4,866,621 (GRCm39) probably null Het
Gm10220 A G 5: 26,321,899 (GRCm39) S258P possibly damaging Het
Lama3 A T 18: 12,672,760 (GRCm39) D845V probably damaging Het
Myh2 T A 11: 67,084,051 (GRCm39) L1558Q probably damaging Het
Nelfb G T 2: 25,093,207 (GRCm39) H482N probably benign Het
Or5ae1 T C 7: 84,565,725 (GRCm39) L246P possibly damaging Het
Or5p58 A G 7: 107,694,024 (GRCm39) V251A probably damaging Het
Ppfia2 A G 10: 106,732,368 (GRCm39) T972A possibly damaging Het
Slc5a4a G A 10: 75,986,346 (GRCm39) V85M probably damaging Het
Slc6a12 T G 6: 121,331,246 (GRCm39) C166G probably damaging Het
Tm7sf3 T C 6: 146,507,618 (GRCm39) probably benign Het
Tmem94 G T 11: 115,682,894 (GRCm39) probably benign Het
Tmod2 T C 9: 75,484,540 (GRCm39) probably benign Het
Tmprss11c T A 5: 86,419,341 (GRCm39) I73F probably damaging Het
Vmn1r10 A G 6: 57,090,911 (GRCm39) M168V probably benign Het
Vmn2r77 T A 7: 86,461,131 (GRCm39) M819K probably benign Het
Vmo1 C T 11: 70,405,236 (GRCm39) probably null Het
Ywhab A G 2: 163,855,936 (GRCm39) D104G probably benign Het
Other mutations in Defa39
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2090:Defa39 UTSW 8 22,192,805 (GRCm39) missense possibly damaging 0.96
R2426:Defa39 UTSW 8 22,192,653 (GRCm39) missense possibly damaging 0.72
R4111:Defa39 UTSW 8 22,192,679 (GRCm39) missense possibly damaging 0.53
R6339:Defa39 UTSW 8 22,193,485 (GRCm39) missense possibly damaging 0.86
R7874:Defa39 UTSW 8 22,192,812 (GRCm39) missense possibly damaging 0.53
R8851:Defa39 UTSW 8 22,193,555 (GRCm39) missense possibly damaging 0.71
Posted On 2016-08-02