Incidental Mutation 'R5826:Defb11'
ID 450174
Institutional Source Beutler Lab
Gene Symbol Defb11
Ensembl Gene ENSMUSG00000045337
Gene Name defensin beta 11
Synonyms Defb8
MMRRC Submission 043217-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.100) question?
Stock # R5826 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 22395392-22396428 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 22395510 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 56 (I56V)
Ref Sequence ENSEMBL: ENSMUSP00000053932 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051965]
AlphaFold Q8R2I7
Predicted Effect probably benign
Transcript: ENSMUST00000051965
AA Change: I56V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000053932
Gene: ENSMUSG00000045337
AA Change: I56V

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
DEFSN 37 67 3.54e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212313
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,632,056 (GRCm39) H4992R probably damaging Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Akr1c20 T C 13: 4,560,222 (GRCm39) E152G probably damaging Het
Ano4 T A 10: 88,788,189 (GRCm39) D877V probably damaging Het
Asb18 A C 1: 89,942,260 (GRCm39) S14A probably damaging Het
Atrnl1 T A 19: 57,618,724 (GRCm39) Y147* probably null Het
Cbfa2t2 A G 2: 154,342,375 (GRCm39) I30M possibly damaging Het
Cpd A T 11: 76,675,242 (GRCm39) L1293* probably null Het
Csmd2 T C 4: 128,412,992 (GRCm39) probably null Het
Cst9 G A 2: 148,680,393 (GRCm39) V120I possibly damaging Het
Ddah2 A G 17: 35,279,664 (GRCm39) D128G probably damaging Het
Dnah17 A T 11: 117,925,193 (GRCm39) L3880Q probably damaging Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Dop1a A G 9: 86,389,623 (GRCm39) T508A possibly damaging Het
Ephb2 T A 4: 136,388,048 (GRCm39) H685L probably damaging Het
Glrb T C 3: 80,752,449 (GRCm39) Y387C probably damaging Het
Gucy2e A G 11: 69,126,859 (GRCm39) S205P possibly damaging Het
Has2 T A 15: 56,531,498 (GRCm39) I406F probably damaging Het
Hcrtr2 A C 9: 76,230,569 (GRCm39) V73G probably benign Het
Hsd17b4 A T 18: 50,316,239 (GRCm39) Q622L probably benign Het
Nlrp1b A T 11: 71,072,022 (GRCm39) M607K probably benign Het
Nol6 T A 4: 41,122,158 (GRCm39) D184V probably benign Het
Noxa1 T A 2: 24,976,253 (GRCm39) Q345L probably damaging Het
Nudt6 T C 3: 37,473,617 (GRCm39) T35A probably benign Het
Phf8-ps C A 17: 33,284,288 (GRCm39) R838I possibly damaging Het
Plcg2 T C 8: 118,337,583 (GRCm39) V985A probably benign Het
Plxnc1 C T 10: 94,635,335 (GRCm39) probably null Het
Prkdc G A 16: 15,551,962 (GRCm39) R2056H probably benign Het
Ptpn4 A T 1: 119,612,246 (GRCm39) I49N probably benign Het
Ralgapa1 T G 12: 55,723,898 (GRCm39) S1543R probably damaging Het
Rnf135 A T 11: 80,089,912 (GRCm39) N416I probably damaging Het
Scn5a A G 9: 119,350,399 (GRCm39) L825P probably damaging Het
Septin11 A T 5: 93,287,309 (GRCm39) N8I possibly damaging Het
Slc13a3 T C 2: 165,250,876 (GRCm39) I456V probably benign Het
Slc16a3 A G 11: 120,847,756 (GRCm39) T315A probably benign Het
Sun1 T G 5: 139,231,171 (GRCm39) F657C probably damaging Het
Tmco3 T C 8: 13,360,314 (GRCm39) S34P probably damaging Het
Tnrc18 G A 5: 142,759,502 (GRCm39) P778L unknown Het
Ubxn4 A C 1: 128,194,058 (GRCm39) K284T possibly damaging Het
Usp37 A T 1: 74,509,785 (GRCm39) N461K probably damaging Het
Vmn2r106 A T 17: 20,499,133 (GRCm39) F259L probably benign Het
Vmn2r73 T C 7: 85,524,956 (GRCm39) D64G possibly damaging Het
Other mutations in Defb11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00782:Defb11 APN 8 22,395,510 (GRCm39) missense probably benign 0.01
R2269:Defb11 UTSW 8 22,395,444 (GRCm39) makesense probably null
R5067:Defb11 UTSW 8 22,396,352 (GRCm39) missense probably damaging 0.96
R7252:Defb11 UTSW 8 22,395,473 (GRCm39) missense probably benign 0.00
X0064:Defb11 UTSW 8 22,396,362 (GRCm39) missense probably null 0.96
Z1177:Defb11 UTSW 8 22,396,362 (GRCm39) missense probably null 0.96
Predicted Primers PCR Primer
(F):5'- AGCTTGGACATTAGCCTTGG -3'
(R):5'- AGGAGAAAATTGCCCCATGAAC -3'

Sequencing Primer
(F):5'- GCTTGGACATTAGCCTTGGATAATC -3'
(R):5'- TTGCCCCATGAACTTAGACATG -3'
Posted On 2016-12-20