Incidental Mutation 'R3719:Defb18'
ID 258807
Institutional Source Beutler Lab
Gene Symbol Defb18
Ensembl Gene ENSMUSG00000073735
Gene Name defensin beta 18
Synonyms EG654460
MMRRC Submission 042001-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R3719 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 18306697-18307667 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 18306813 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 48 (S48P)
Ref Sequence ENSEMBL: ENSMUSP00000095427 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097818]
AlphaFold Q30KP5
Predicted Effect possibly damaging
Transcript: ENSMUST00000097818
AA Change: S48P

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000095427
Gene: ENSMUSG00000073735
AA Change: S48P

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Defensin_beta_2 38 66 6.8e-8 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 97% (35/36)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. [provided by RefSeq, Oct 2014]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 G A 15: 94,259,719 (GRCm39) R327C probably damaging Het
Atxn2l G A 7: 126,097,302 (GRCm39) R335W probably damaging Het
Blk A G 14: 63,621,451 (GRCm39) S93P probably damaging Het
Cdk11b A G 4: 155,711,343 (GRCm39) D75G probably damaging Het
Chpf2 C T 5: 24,795,310 (GRCm39) Q278* probably null Het
Cypt14-ps C T X: 38,952,128 (GRCm39) G52E probably damaging Het
Dync2h1 A G 9: 7,006,882 (GRCm39) probably benign Het
Ero1b T G 13: 12,598,493 (GRCm39) probably null Het
Gcn1 T C 5: 115,717,876 (GRCm39) S254P probably benign Het
Hivep1 T C 13: 42,311,203 (GRCm39) S1148P probably benign Het
Kdm3b C T 18: 34,941,724 (GRCm39) A405V probably damaging Het
Mcm7 G A 5: 138,164,976 (GRCm39) Q550* probably null Het
Or9m1 G A 2: 87,733,447 (GRCm39) T191I probably benign Het
Pcdh7 A G 5: 58,286,374 (GRCm39) E1150G probably damaging Het
Pcdhac2 A G 18: 37,279,288 (GRCm39) Y756C possibly damaging Het
Pclo A G 5: 14,571,175 (GRCm39) T187A probably benign Het
Rbms3 C T 9: 116,411,930 (GRCm39) V421I probably benign Het
Selenbp2 T C 3: 94,606,924 (GRCm39) F190S probably damaging Het
Sema6a G A 18: 47,382,144 (GRCm39) T801M probably damaging Het
Slc16a10 G C 10: 39,932,620 (GRCm39) H314D possibly damaging Het
Spen G T 4: 141,244,494 (GRCm39) H180Q unknown Het
Tenm4 A G 7: 96,512,770 (GRCm39) K1339R possibly damaging Het
Trim30a C A 7: 104,060,370 (GRCm39) D469Y probably benign Het
Trpm3 G A 19: 22,964,354 (GRCm39) R1283H possibly damaging Het
Trpm6 A T 19: 18,749,757 (GRCm39) R29* probably null Het
Ttc17 A G 2: 94,194,672 (GRCm39) V567A probably benign Het
Vmn2r101 A G 17: 19,809,811 (GRCm39) Y199C possibly damaging Het
Vmn2r73 A T 7: 85,519,582 (GRCm39) Y459N probably damaging Het
Vmn2r79 A G 7: 86,651,245 (GRCm39) I215V probably benign Het
Wdr48 C T 9: 119,736,197 (GRCm39) S162F probably damaging Het
Other mutations in Defb18
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1716:Defb18 UTSW 1 18,306,875 (GRCm39) missense probably benign 0.02
R3772:Defb18 UTSW 1 18,306,845 (GRCm39) missense possibly damaging 0.53
R8552:Defb18 UTSW 1 18,306,791 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TCCCAGGTTATCATAGTGCAATC -3'
(R):5'- CAACAGATAAGGGTATCCATCTATCC -3'

Sequencing Primer
(F):5'- ATGTCATAAACATCCCACTTGATAC -3'
(R):5'- AAGGGTATCCATCTATCCATTTATCC -3'
Posted On 2015-01-23