Incidental Mutation 'R6859:Defa3'
ID 537811
Institutional Source Beutler Lab
Gene Symbol Defa3
Ensembl Gene ENSMUSG00000074440
Gene Name defensin, alpha, 3
Synonyms Defcr-3, Defcr3
MMRRC Submission 044961-MU
Accession Numbers
Essential gene? Not available question?
Stock # R6859 (G1)
Quality Score 192.009
Status Not validated
Chromosome 8
Chromosomal Location 21777425-21778393 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 21778213 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 66 (C66S)
Ref Sequence ENSEMBL: ENSMUSP00000096492 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098893]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000098893
AA Change: C66S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096492
Gene: ENSMUSG00000074440
AA Change: C66S

DomainStartEndE-ValueType
Pfam:Defensin_propep 1 52 9.4e-30 PFAM
DEFSN 64 92 2e-10 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (42/42)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T C 16: 4,669,799 (GRCm39) V788A possibly damaging Het
Abca15 A T 7: 120,002,217 (GRCm39) K1577* probably null Het
Arhgap12 T C 18: 6,111,803 (GRCm39) E187G probably damaging Het
Arhgef10 T A 8: 15,025,005 (GRCm39) Y398N probably damaging Het
Baz2b C T 2: 59,731,874 (GRCm39) V2055I probably benign Het
Btnl4 T C 17: 34,688,353 (GRCm39) D475G probably damaging Het
C1qtnf12 T A 4: 156,050,070 (GRCm39) F190Y probably damaging Het
Cacul1 A G 19: 60,522,683 (GRCm39) S284P probably damaging Het
Ccdc166 C A 15: 75,853,820 (GRCm39) V87L possibly damaging Het
Ceacam13 C T 7: 17,747,032 (GRCm39) P162S probably damaging Het
Cep250 T A 2: 155,834,446 (GRCm39) S2124T probably benign Het
Chd5 T C 4: 152,462,664 (GRCm39) S1372P probably damaging Het
Chil3 C A 3: 106,067,730 (GRCm39) R145L probably benign Het
Cyp4f40 T C 17: 32,894,923 (GRCm39) S454P probably benign Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Glmp C A 3: 88,235,349 (GRCm39) N260K probably benign Het
Gsap T A 5: 21,486,016 (GRCm39) L653Q probably damaging Het
Il18rap T A 1: 40,564,255 (GRCm39) Y124* probably null Het
Lao1 A C 4: 118,820,948 (GRCm39) K58T probably damaging Het
Lepr T A 4: 101,622,487 (GRCm39) probably null Het
Mrgpra3 G C 7: 47,239,781 (GRCm39) I48M probably benign Het
Nck2 T G 1: 43,593,511 (GRCm39) N239K probably benign Het
Optc A T 1: 133,825,554 (GRCm39) V324E possibly damaging Het
Or12k7 A T 2: 36,958,794 (GRCm39) Y159F probably damaging Het
Or4p8 A G 2: 88,727,278 (GRCm39) I221T probably benign Het
Or51b6 G A 7: 103,555,908 (GRCm39) W84* probably null Het
Otog T C 7: 45,923,205 (GRCm39) S1027P probably damaging Het
Plbd2 A G 5: 120,641,407 (GRCm39) F84L probably benign Het
Plxnb1 T C 9: 108,935,838 (GRCm39) L110P probably damaging Het
Prnp T C 2: 131,778,708 (GRCm39) V120A possibly damaging Het
Ptprh C A 7: 4,552,370 (GRCm39) E965* probably null Het
Reln T C 5: 22,239,568 (GRCm39) T900A probably damaging Het
Stt3a A G 9: 36,646,682 (GRCm39) Y644H probably damaging Het
Sulf2 A G 2: 165,929,039 (GRCm39) Y311H probably damaging Het
Tbc1d32 A T 10: 56,056,626 (GRCm39) I438N probably damaging Het
Tbcd T C 11: 121,387,937 (GRCm39) V356A possibly damaging Het
Tecta T C 9: 42,303,425 (GRCm39) N69S probably damaging Het
Topaz1 T C 9: 122,631,023 (GRCm39) V1618A probably benign Het
Usp48 C T 4: 137,352,587 (GRCm39) T627I possibly damaging Het
Vcl T C 14: 21,037,143 (GRCm39) V247A probably damaging Het
Vmn2r59 A G 7: 41,693,277 (GRCm39) L441P probably damaging Het
Zfp869 C T 8: 70,159,175 (GRCm39) G466D probably damaging Het
Other mutations in Defa3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6781:Defa3 UTSW 8 21,778,277 (GRCm39) missense probably benign
R8069:Defa3 UTSW 8 21,778,288 (GRCm39) missense probably damaging 1.00
R8542:Defa3 UTSW 8 21,778,179 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- CACCCCTGAAGTGTGTGATTGG -3'
(R):5'- CCTTGACTGAGCCTTGTAGC -3'

Sequencing Primer
(F):5'- ATTGGTTGAGATATCCTTGCTGAAG -3'
(R):5'- GACTGAGCCTTGTAGCATATATTG -3'
Posted On 2018-10-18