Incidental Mutation 'R6741:Defb12'
ID 530453
Institutional Source Beutler Lab
Gene Symbol Defb12
Ensembl Gene ENSMUSG00000043787
Gene Name defensin beta 12
Synonyms mBD-12, 9230103N16Rik
MMRRC Submission 044858-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R6741 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 19161947-19164850 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 19164757 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 27 (E27G)
Ref Sequence ENSEMBL: ENSMUSP00000060899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062113]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000062113
AA Change: E27G

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000060899
Gene: ENSMUSG00000043787
AA Change: E27G

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:Defensin_beta_2 52 81 2.7e-7 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency 97% (34/35)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actrt3 A C 3: 30,652,663 (GRCm39) F144V possibly damaging Het
Arhgef12 A G 9: 42,883,503 (GRCm39) I1342T probably benign Het
Dbn1 A G 13: 55,629,350 (GRCm39) probably null Het
Dennd2b A G 7: 109,144,304 (GRCm39) Y534H possibly damaging Het
Dthd1 A T 5: 63,000,289 (GRCm39) H537L probably damaging Het
Ep400 A T 5: 110,824,761 (GRCm39) S2359T unknown Het
Epha5 T C 5: 84,254,557 (GRCm39) I572V possibly damaging Het
Grb10 C A 11: 11,886,717 (GRCm39) probably null Het
Hectd2 T C 19: 36,589,759 (GRCm39) I628T probably damaging Het
Il17rb T A 14: 29,722,293 (GRCm39) Q246L possibly damaging Het
Knop1 C T 7: 118,445,061 (GRCm39) R301Q possibly damaging Het
Lrp1b T C 2: 41,136,001 (GRCm39) I1770M possibly damaging Het
Mgst1 A C 6: 138,127,836 (GRCm39) D66A probably damaging Het
Nags A G 11: 102,037,718 (GRCm39) D237G possibly damaging Het
Nfatc2ip T A 7: 125,995,182 (GRCm39) Q122L possibly damaging Het
Nod2 T C 8: 89,379,694 (GRCm39) V72A probably damaging Het
Notch3 G T 17: 32,362,458 (GRCm39) P1389Q probably benign Het
Or5ac25 A G 16: 59,181,918 (GRCm39) L221P probably damaging Het
Plekhn1 A T 4: 156,306,249 (GRCm39) I607N probably damaging Het
Plekho2 C A 9: 65,471,197 (GRCm39) R84L probably damaging Het
Prag1 A T 8: 36,614,434 (GRCm39) M1329L probably benign Het
Prpsap2 C T 11: 61,631,771 (GRCm39) probably null Het
Ptprf A G 4: 118,080,565 (GRCm39) S1230P probably benign Het
Rigi A G 4: 40,211,624 (GRCm39) I648T probably damaging Het
Rptor T G 11: 119,786,803 (GRCm39) L1256R possibly damaging Het
Sesn3 T C 9: 14,231,636 (GRCm39) I189T possibly damaging Het
Skic2 G A 17: 35,064,166 (GRCm39) R507* probably null Het
Slc39a4 C T 15: 76,498,283 (GRCm39) D385N probably damaging Het
Tnfsf13b T C 8: 10,057,314 (GRCm39) F128S possibly damaging Het
Vmn1r49 A G 6: 90,049,195 (GRCm39) V269A probably benign Het
Vmn2r69 T A 7: 85,061,724 (GRCm39) E83D probably benign Het
Vmn2r76 T C 7: 85,879,560 (GRCm39) N247D probably benign Het
Zmym4 A G 4: 126,808,878 (GRCm39) S390P possibly damaging Het
Other mutations in Defb12
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0269:Defb12 UTSW 8 19,164,375 (GRCm39) missense probably damaging 0.99
R1843:Defb12 UTSW 8 19,162,754 (GRCm39) missense probably damaging 1.00
R2914:Defb12 UTSW 8 19,164,830 (GRCm39) missense probably benign
R4303:Defb12 UTSW 8 19,162,737 (GRCm39) missense probably benign
R5377:Defb12 UTSW 8 19,164,342 (GRCm39) critical splice donor site probably null
R5618:Defb12 UTSW 8 19,164,814 (GRCm39) missense possibly damaging 0.86
R8088:Defb12 UTSW 8 19,162,837 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- TCATCTGGCTCTTAGGAAACATG -3'
(R):5'- AGGTTATTACCCACTGCCCC -3'

Sequencing Primer
(F):5'- CTCTTAGGAAACATGAGTGGAGATCC -3'
(R):5'- CTCTTGATCCTGGCAAATGGAGC -3'
Posted On 2018-08-01