Incidental Mutation 'R4356:Defa30'
ID 327550
Institutional Source Beutler Lab
Gene Symbol Defa30
Ensembl Gene ENSMUSG00000074444
Gene Name defensin, alpha, 30
Synonyms Gm15284
MMRRC Submission 041669-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R4356 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 21624658-21625614 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 21624821 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 48 (D48V)
Ref Sequence ENSEMBL: ENSMUSP00000096497 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098898]
AlphaFold E9QPZ2
Predicted Effect possibly damaging
Transcript: ENSMUST00000098898
AA Change: D48V

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000096497
Gene: ENSMUSG00000074444
AA Change: D48V

DomainStartEndE-ValueType
Pfam:Defensin_propep 1 51 4.9e-27 PFAM
DEFSN 64 92 2.94e-8 SMART
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 100% (58/58)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm1 T A 3: 59,843,701 (GRCm39) Y132N probably damaging Het
Adam21 T C 12: 81,605,594 (GRCm39) T723A probably damaging Het
Alox5 C T 6: 116,397,219 (GRCm39) V322I probably benign Het
Alpk1 C T 3: 127,523,022 (GRCm39) V7M probably damaging Het
Ankhd1 A T 18: 36,776,096 (GRCm39) K1482* probably null Het
Cacna1e A C 1: 154,319,727 (GRCm39) D1324E probably damaging Het
Ccdc150 A G 1: 54,392,213 (GRCm39) D657G probably damaging Het
Celsr1 A G 15: 85,863,028 (GRCm39) S1335P probably damaging Het
Cfhr4 T A 1: 139,660,048 (GRCm39) K621N probably damaging Het
Cspg5 A G 9: 110,085,245 (GRCm39) D391G probably damaging Het
E2f7 T C 10: 110,595,712 (GRCm39) Y136H probably damaging Het
Fam3d A G 14: 8,349,314 (GRCm38) L212P probably damaging Het
Fbxw25 A T 9: 109,491,153 (GRCm39) C122S probably damaging Het
Fgg A T 3: 82,920,250 (GRCm39) D343V probably damaging Het
Flnb T A 14: 7,922,700 (GRCm38) M1712K probably benign Het
Fnbp4 T C 2: 90,588,683 (GRCm39) S485P probably damaging Het
Ftsj3 G A 11: 106,144,502 (GRCm39) A134V probably benign Het
Gast C A 11: 100,227,373 (GRCm39) S22Y probably damaging Het
Gm20834 T A Y: 10,322,962 (GRCm39) H158L possibly damaging Het
Ids C A X: 69,389,950 (GRCm39) G506C probably damaging Het
Ifna15 G T 4: 88,476,079 (GRCm39) T135N probably benign Het
Igsf9b G A 9: 27,220,774 (GRCm39) V47I possibly damaging Het
Impg2 C T 16: 56,080,527 (GRCm39) T777I probably damaging Het
Kif11 C A 19: 37,399,883 (GRCm39) T790K probably benign Het
Kif24 A G 4: 41,413,827 (GRCm39) probably null Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lrp10 C T 14: 54,705,823 (GRCm39) R338C probably damaging Het
Mib1 A G 18: 10,751,844 (GRCm39) N242S probably benign Het
Nectin1 A G 9: 43,703,802 (GRCm39) D264G probably benign Het
Nipsnap3a T C 4: 52,995,979 (GRCm39) probably null Het
Or10al3 G T 17: 38,011,790 (GRCm39) E76D probably damaging Het
Or5w14 G A 2: 87,542,229 (GRCm39) S7F possibly damaging Het
P3h4 A G 11: 100,304,452 (GRCm39) F263S probably damaging Het
Pcdhga4 C T 18: 37,820,664 (GRCm39) H738Y probably damaging Het
Prickle2 A T 6: 92,388,490 (GRCm39) I304K probably damaging Het
Ptprq A T 10: 107,444,225 (GRCm39) Y1460N probably damaging Het
Rbl2 A G 8: 91,833,735 (GRCm39) D812G probably damaging Het
Rbm19 A G 5: 120,278,427 (GRCm39) T737A possibly damaging Het
Rbsn G A 6: 92,184,029 (GRCm39) L95F possibly damaging Het
Sall4 T C 2: 168,597,400 (GRCm39) E480G probably benign Het
Scfd1 T A 12: 51,486,068 (GRCm39) N541K probably benign Het
Scube3 G A 17: 28,383,283 (GRCm39) G442S probably benign Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Smarcc1 A G 9: 110,025,324 (GRCm39) D667G probably damaging Het
Sned1 A T 1: 93,193,113 (GRCm39) probably null Het
Spsb1 T C 4: 149,991,232 (GRCm39) H112R probably damaging Het
Sun3 A G 11: 8,966,328 (GRCm39) V231A probably damaging Het
Vmn2r106 A T 17: 20,499,910 (GRCm39) D108E probably benign Het
Xdh A G 17: 74,222,685 (GRCm39) V560A probably benign Het
Zfp352 T A 4: 90,112,071 (GRCm39) H70Q possibly damaging Het
Zfp40 C A 17: 23,396,164 (GRCm39) C73F probably benign Het
Zfp975 A C 7: 42,311,251 (GRCm39) L454R probably damaging Het
Zik1 A T 7: 10,224,268 (GRCm39) C276* probably null Het
Other mutations in Defa30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00485:Defa30 APN 8 21,625,467 (GRCm39) missense probably benign 0.04
R0779:Defa30 UTSW 8 21,624,691 (GRCm39) missense probably benign
R1476:Defa30 UTSW 8 21,624,752 (GRCm39) missense possibly damaging 0.69
R1716:Defa30 UTSW 8 21,625,431 (GRCm39) missense probably damaging 1.00
R1854:Defa30 UTSW 8 21,625,500 (GRCm39) missense probably damaging 0.98
R2892:Defa30 UTSW 8 21,624,679 (GRCm39) start codon destroyed probably damaging 1.00
R4986:Defa30 UTSW 8 21,625,432 (GRCm39) nonsense probably null
R5428:Defa30 UTSW 8 21,625,419 (GRCm39) missense probably benign 0.00
R7046:Defa30 UTSW 8 21,625,471 (GRCm39) missense probably benign 0.14
R7420:Defa30 UTSW 8 21,625,471 (GRCm39) missense probably benign 0.14
R8305:Defa30 UTSW 8 21,625,475 (GRCm39) missense probably benign 0.25
R8316:Defa30 UTSW 8 21,624,709 (GRCm39) missense probably benign 0.01
R9375:Defa30 UTSW 8 21,624,686 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGGCTGGATATTCACTCTCC -3'
(R):5'- TCAATTAGAGTTGCTTTCCTGTCAC -3'

Sequencing Primer
(F):5'- GGATATTCACTCTCCACACATTGAG -3'
(R):5'- AGAGTTGCTTTCCTGTCACTGTTAC -3'
Posted On 2015-07-07