Incidental Mutation 'R1130:Defb19'
ID 98026
Institutional Source Beutler Lab
Gene Symbol Defb19
Ensembl Gene ENSMUSG00000050645
Gene Name defensin beta 19
Synonyms Tdl
MMRRC Submission 039203-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R1130 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 152418006-152422232 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 152418109 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 76 (E76*)
Ref Sequence ENSEMBL: ENSMUSP00000059585 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053180] [ENSMUST00000070722]
AlphaFold Q8K3I8
Predicted Effect probably null
Transcript: ENSMUST00000053180
AA Change: E76*
SMART Domains Protein: ENSMUSP00000059585
Gene: ENSMUSG00000050645
AA Change: E76*

DomainStartEndE-ValueType
Pfam:Defensin_big 2 60 3.4e-9 PFAM
Pfam:Defensin_beta_2 26 55 5.1e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000070722
SMART Domains Protein: ENSMUSP00000065102
Gene: ENSMUSG00000056544

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Defensin_beta_2 33 62 1.4e-9 PFAM
low complexity region 76 86 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 91.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the beta subfamily of defensins. Beta-defensins are antimicrobial peptides that protect tissues and organs from infection by a variety of microorganisms. This gene is found in a cluster with other beta-defensin genes on the long arm of chromosome 20. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik C T 15: 81,943,561 (GRCm39) H58Y probably benign Het
Akp3 G A 1: 87,055,593 (GRCm39) G547R unknown Het
Armc2 T C 10: 41,887,830 (GRCm39) D51G possibly damaging Het
Aspm A T 1: 139,405,572 (GRCm39) K1486N possibly damaging Het
Aurka A T 2: 172,199,178 (GRCm39) probably null Het
Cfap45 T C 1: 172,373,264 (GRCm39) Y534H probably damaging Het
Cldn20 T C 17: 3,583,243 (GRCm39) Y139H probably damaging Het
Fcho2 A T 13: 98,884,797 (GRCm39) D423E probably damaging Het
Frem1 T G 4: 82,834,865 (GRCm39) probably null Het
Gaa C T 11: 119,165,509 (GRCm39) T333M probably damaging Het
Gm9945 T A 11: 53,371,345 (GRCm39) probably benign Het
Gml2 G A 15: 74,693,195 (GRCm39) C66Y probably damaging Het
H1f6 G T 13: 23,880,307 (GRCm39) K153N possibly damaging Het
Kcnh2 G A 5: 24,536,823 (GRCm39) R254* probably null Het
Megf10 T C 18: 57,395,078 (GRCm39) V480A probably benign Het
Nrde2 A T 12: 100,091,929 (GRCm39) M1152K probably damaging Het
Ociad1 T C 5: 73,451,675 (GRCm39) S15P probably benign Het
Ptprj A G 2: 90,283,765 (GRCm39) V803A probably damaging Het
Rxylt1 T C 10: 121,931,847 (GRCm39) I109V possibly damaging Het
Skint7 T C 4: 111,841,355 (GRCm39) I265T probably benign Het
Srsf2 A G 11: 116,743,009 (GRCm39) probably benign Het
Tac2 A G 10: 127,565,371 (GRCm39) N108D possibly damaging Het
Other mutations in Defb19
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0348:Defb19 UTSW 2 152,422,146 (GRCm39) missense unknown
R1513:Defb19 UTSW 2 152,418,085 (GRCm39) makesense probably null
R2054:Defb19 UTSW 2 152,418,090 (GRCm39) missense possibly damaging 0.92
R6038:Defb19 UTSW 2 152,418,187 (GRCm39) splice site probably null
R6038:Defb19 UTSW 2 152,418,187 (GRCm39) splice site probably null
R7395:Defb19 UTSW 2 152,421,943 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- AGCTGCATCCAGAATGGGACAGAC -3'
(R):5'- TGACTGTGGCACTTGCTATCACC -3'

Sequencing Primer
(F):5'- GAATGGGACAGACCTCTCAC -3'
(R):5'- CAATGTATGTCACTGGCAAACAG -3'
Posted On 2014-01-05