Incidental Mutation 'R0779:Defa30'
ID 76568
Institutional Source Beutler Lab
Gene Symbol Defa30
Ensembl Gene ENSMUSG00000074444
Gene Name defensin, alpha, 30
Synonyms Gm15284
MMRRC Submission 038959-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R0779 (G1)
Quality Score 190
Status Not validated
Chromosome 8
Chromosomal Location 21624658-21625614 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 21624691 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 5 (I5V)
Ref Sequence ENSEMBL: ENSMUSP00000096497 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098898]
AlphaFold E9QPZ2
Predicted Effect probably benign
Transcript: ENSMUST00000098898
AA Change: I5V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000096497
Gene: ENSMUSG00000074444
AA Change: I5V

DomainStartEndE-ValueType
Pfam:Defensin_propep 1 51 4.9e-27 PFAM
DEFSN 64 92 2.94e-8 SMART
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.6%
  • 10x: 95.8%
  • 20x: 87.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 1 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik GCC GC 13: 59,839,412 (GRCm39) probably null Het
Other mutations in Defa30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00485:Defa30 APN 8 21,625,467 (GRCm39) missense probably benign 0.04
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
R4356:Defa30 UTSW 8 21,624,821 (GRCm39) missense possibly damaging 0.93
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'- ACAGTGCAACACAATGATGGTAGCC -3'
(R):5'- AGAATCTTCATCCCTCCCTCAGCAG -3'

Sequencing Primer
(F):5'- CTTGAGGACAAAGGAACATCAAAG -3'
(R):5'- TCCCTCAGCAGAATGCAAG -3'
Posted On 2013-10-16