Incidental Mutation 'R5812:Defb6'
ID 447556
Institutional Source Beutler Lab
Gene Symbol Defb6
Ensembl Gene ENSMUSG00000050756
Gene Name defensin beta 6
Synonyms mBD-6
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R5812 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 19275494-19278225 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 19278110 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 61 (R61C)
Ref Sequence ENSEMBL: ENSMUSP00000060836 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063112]
AlphaFold Q91VD6
Predicted Effect possibly damaging
Transcript: ENSMUST00000063112
AA Change: R61C

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000060836
Gene: ENSMUSG00000050756
AA Change: R61C

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Defensin_beta 27 61 3.2e-10 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik A G 3: 137,882,299 (GRCm39) S9P probably damaging Het
Aadacl2fm2 T A 3: 59,654,693 (GRCm39) Y176N probably damaging Het
Acsl5 G A 19: 55,283,268 (GRCm39) V615I probably benign Het
Ankk1 T C 9: 49,338,153 (GRCm39) K47E probably benign Het
Ankrd11 A T 8: 123,620,544 (GRCm39) probably null Het
Bcl9l T C 9: 44,417,941 (GRCm39) V593A probably benign Het
Cadps T C 14: 12,376,685 (GRCm38) I1271V probably benign Het
Ccdc125 T C 13: 100,820,812 (GRCm39) W152R probably damaging Het
Cep192 T C 18: 67,984,808 (GRCm39) V1606A possibly damaging Het
Csgalnact1 T C 8: 68,854,036 (GRCm39) N255S probably benign Het
Cxxc5 T A 18: 35,992,109 (GRCm39) V170E probably damaging Het
Dnah10 T A 5: 124,824,810 (GRCm39) N655K probably benign Het
Fry G A 5: 150,323,136 (GRCm39) A1096T probably damaging Het
Gli1 C T 10: 127,173,284 (GRCm39) G125S probably damaging Het
Igkv14-126 A T 6: 67,873,424 (GRCm39) I51F possibly damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Jtb T C 3: 90,141,284 (GRCm39) S87P probably benign Het
Kdm6b A T 11: 69,296,755 (GRCm39) I504N probably damaging Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Map2k4 A G 11: 65,626,031 (GRCm39) I136T probably damaging Het
Marchf4 T C 1: 72,468,076 (GRCm39) T319A probably benign Het
Nr2e3 TCCATCGGAGTGTTCCC TC 9: 59,850,701 (GRCm39) probably benign Het
Nt5e T C 9: 88,251,108 (GRCm39) V459A probably damaging Het
Ogdhl A G 14: 32,054,822 (GRCm39) K257E probably damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or2g25 A G 17: 37,970,630 (GRCm39) L198P probably damaging Het
Osmr A T 15: 6,866,540 (GRCm39) V378D probably damaging Het
Pcdhb18 G A 18: 37,623,537 (GRCm39) R289Q probably benign Het
Pdzd7 G T 19: 45,025,310 (GRCm39) T395K probably damaging Het
Rasgef1c A G 11: 49,847,970 (GRCm39) D35G probably benign Het
Rbm19 T C 5: 120,279,642 (GRCm39) F770L probably damaging Het
Rit2 C A 18: 31,108,514 (GRCm39) C157F probably damaging Het
Slc22a22 A G 15: 57,119,869 (GRCm39) probably null Het
Slc8b1 T C 5: 120,651,403 (GRCm39) probably null Het
Speer2 C A 16: 69,655,783 (GRCm39) R14S possibly damaging Het
Tas2r105 C A 6: 131,663,836 (GRCm39) L197F possibly damaging Het
Tmprss11b T A 5: 86,812,957 (GRCm39) H113L possibly damaging Het
Ttbk2 G A 2: 120,653,040 (GRCm39) P64S probably damaging Het
Urb1 A T 16: 90,601,425 (GRCm39) H115Q probably damaging Het
Vps13c T A 9: 67,889,777 (GRCm39) probably benign Het
Zbtb39 T A 10: 127,577,429 (GRCm39) M1K probably null Het
Other mutations in Defb6
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4491:Defb6 UTSW 8 19,278,090 (GRCm39) missense probably benign
R6287:Defb6 UTSW 8 19,278,085 (GRCm39) nonsense probably null
R6805:Defb6 UTSW 8 19,278,117 (GRCm39) missense probably benign 0.01
R6824:Defb6 UTSW 8 19,278,099 (GRCm39) missense probably benign 0.04
R7452:Defb6 UTSW 8 19,275,540 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCTGAGGCTTTCAACTCTAAC -3'
(R):5'- GCTGAAGGCAAAGTGTTTTCTTC -3'

Sequencing Primer
(F):5'- GAGGCTTTCAACTCTAACATGCGTG -3'
(R):5'- GGCAAAGTGTTTTCTTCAATGACTC -3'
Posted On 2016-12-15