Incidental Mutation 'R5705:Defb23'
ID 451904
Institutional Source Beutler Lab
Gene Symbol Defb23
Ensembl Gene ENSMUSG00000074681
Gene Name defensin beta 23
Synonyms EG629114
MMRRC Submission 043330-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R5705 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 152300975-152306540 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 152301204 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 123 (A123T)
Ref Sequence ENSEMBL: ENSMUSP00000096812 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099206]
AlphaFold Q30KP0
Predicted Effect probably benign
Transcript: ENSMUST00000099206
AA Change: A123T

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000096812
Gene: ENSMUSG00000074681
AA Change: A123T

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Defensin_beta_2 26 54 6.8e-8 PFAM
low complexity region 130 137 N/A INTRINSIC
low complexity region 157 166 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000118409
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. [provided by RefSeq, Nov 2014]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 79,851,276 (GRCm39) V2163A probably benign Het
Abcg3 G A 5: 105,116,036 (GRCm39) A266V probably damaging Het
Ago1 T C 4: 126,342,587 (GRCm39) I519V probably benign Het
Arhgap4 G A X: 72,950,423 (GRCm39) R43W probably damaging Het
Aurkb T A 11: 68,939,641 (GRCm39) L213I possibly damaging Het
Bod1l T A 5: 41,974,345 (GRCm39) Q2323L probably benign Het
Calhm5 A T 10: 33,971,989 (GRCm39) C149S probably damaging Het
Ccdc17 C T 4: 116,454,066 (GRCm39) T28I probably benign Het
Ccdc39 T C 3: 33,871,086 (GRCm39) E630G probably damaging Het
Cnih4 A G 1: 180,981,300 (GRCm39) I24V probably benign Het
Ctse C A 1: 131,592,112 (GRCm39) T146K possibly damaging Het
Ctsr A G 13: 61,309,078 (GRCm39) F226L probably damaging Het
Cyp2a22 T C 7: 26,638,640 (GRCm39) N49D probably benign Het
Dtx2 C A 5: 136,039,149 (GRCm39) D69E probably damaging Het
Eps8l1 T C 7: 4,473,034 (GRCm39) V91A probably benign Het
Eps8l3 C A 3: 107,798,580 (GRCm39) Q489K probably benign Het
Esyt3 A G 9: 99,200,260 (GRCm39) S645P probably benign Het
Fam161a T A 11: 22,978,869 (GRCm39) M472K unknown Het
Glp2r A G 11: 67,600,565 (GRCm39) V428A probably benign Het
Gnl1 G A 17: 36,292,492 (GRCm39) V191I probably benign Het
Hfm1 T C 5: 107,059,319 (GRCm39) I234M probably benign Het
Hlx T C 1: 184,463,062 (GRCm39) T197A probably benign Het
Hs3st2 T C 7: 120,992,305 (GRCm39) L85P probably damaging Het
Igsf9 T C 1: 172,322,338 (GRCm39) V511A possibly damaging Het
Insyn2b A G 11: 34,354,349 (GRCm39) Y473C probably damaging Het
Kcnma1 A T 14: 24,053,839 (GRCm39) C54S possibly damaging Het
Klhdc4 A G 8: 122,531,732 (GRCm39) V181A probably benign Het
Ldb3 T C 14: 34,298,986 (GRCm39) M213V probably null Het
Mertk C A 2: 128,613,321 (GRCm39) Q446K probably benign Het
Ndufs1 A G 1: 63,186,317 (GRCm39) V46A probably benign Het
Neurod4 A G 10: 130,107,271 (GRCm39) M1T probably null Het
Nlrc5 T A 8: 95,202,385 (GRCm39) C162S probably benign Het
Pald1 A G 10: 61,159,076 (GRCm39) I785T possibly damaging Het
Pcmt1 T C 10: 7,513,954 (GRCm39) I224M possibly damaging Het
Pisd C T 5: 32,894,707 (GRCm39) R533H probably benign Het
Plcxd3 C A 15: 4,546,676 (GRCm39) Q227K probably benign Het
Polr1b A T 2: 128,947,271 (GRCm39) K199* probably null Het
Ppp1r10 T C 17: 36,240,381 (GRCm39) V557A probably damaging Het
Ralgapa2 A G 2: 146,291,193 (GRCm39) Y248H probably damaging Het
Rsrp1 T C 4: 134,651,331 (GRCm39) S32P unknown Het
Setdb2 T G 14: 59,660,814 (GRCm39) S110R possibly damaging Het
Srcin1 A G 11: 97,439,777 (GRCm39) C152R probably benign Het
Syk A G 13: 52,765,083 (GRCm39) N70S probably benign Het
Tlr4 T A 4: 66,752,217 (GRCm39) D59E probably damaging Het
Tm9sf4 T A 2: 153,024,378 (GRCm39) I67N probably benign Het
Trim30b T A 7: 104,006,784 (GRCm39) Y24F probably damaging Het
Tsga13 A G 6: 30,876,951 (GRCm39) S189P probably damaging Het
Tspan33 A G 6: 29,717,232 (GRCm39) D210G probably benign Het
Use1 G T 8: 71,822,331 (GRCm39) R278L probably damaging Het
Wwc1 T C 11: 35,767,423 (GRCm39) N403D probably damaging Het
Zfp263 C T 16: 3,564,318 (GRCm39) P203S probably benign Het
Other mutations in Defb23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01837:Defb23 APN 2 152,301,294 (GRCm39) missense probably benign 0.12
IGL02206:Defb23 APN 2 152,306,455 (GRCm39) nonsense probably null
R3034:Defb23 UTSW 2 152,301,189 (GRCm39) missense possibly damaging 0.72
R9135:Defb23 UTSW 2 152,301,422 (GRCm39) missense probably benign 0.01
R9731:Defb23 UTSW 2 152,301,333 (GRCm39) missense probably benign 0.26
Predicted Primers PCR Primer
(F):5'- AGGAGAAAGACCTGCTACCC -3'
(R):5'- ATTGGCCCCAAAGTGTCAG -3'

Sequencing Primer
(F):5'- GACCTGCTACCCACTAATATGC -3'
(R):5'- TGGCCCCAAAGTGTCAGAACTG -3'
Posted On 2017-01-03