Incidental Mutation 'IGL00834:Defb10'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Defb10
Ensembl Gene ENSMUSG00000044743
Gene Namedefensin beta 10
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.105) question?
Stock #IGL00834
Quality Score
Chromosomal Location21858901-21862011 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 21861936 bp
Amino Acid Change Cysteine to Serine at position 66 (C66S)
Ref Sequence ENSEMBL: ENSMUSP00000061533 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054162]
Predicted Effect possibly damaging
Transcript: ENSMUST00000054162
AA Change: C66S

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000061533
Gene: ENSMUSG00000044743
AA Change: C66S

signal peptide 1 23 N/A INTRINSIC
Pfam:Defensin_beta 33 68 3.4e-13 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c20 A G 13: 4,512,665 probably null Het
Alg5 T C 3: 54,744,719 probably benign Het
App A T 16: 84,965,711 F675I probably damaging Het
Atad1 C A 19: 32,698,568 C152F probably benign Het
Atp2a3 A C 11: 72,982,787 I829L probably damaging Het
B3galt1 C T 2: 68,118,706 S255L probably damaging Het
Bptf A G 11: 107,073,928 V1417A possibly damaging Het
Cast T A 13: 74,736,974 T219S probably damaging Het
Cep95 A T 11: 106,818,217 I705F probably damaging Het
Cnot3 C T 7: 3,650,855 A2V probably damaging Het
Col1a1 A G 11: 94,949,378 D1084G unknown Het
Col5a3 G A 9: 20,786,389 Q873* probably null Het
Cubn C T 2: 13,381,927 G1509D probably damaging Het
Dennd4b T C 3: 90,279,686 probably null Het
Dido1 G A 2: 180,689,526 T43M possibly damaging Het
Hmcn1 C T 1: 150,630,340 V3812I probably benign Het
Islr2 T C 9: 58,199,786 T64A probably benign Het
Kif2b A T 11: 91,576,380 I359N probably damaging Het
Kit A C 5: 75,645,959 N704T probably damaging Het
Ksr1 A G 11: 79,027,517 F604L probably damaging Het
Lrp5 A T 19: 3,649,404 F294I probably benign Het
Lrrn1 A G 6: 107,568,308 T356A probably benign Het
Mrps17 G A 5: 129,716,765 V8I probably benign Het
Nop56 T A 2: 130,275,995 H130Q possibly damaging Het
Plg T A 17: 12,411,493 L639Q probably damaging Het
Ppcdc A G 9: 57,415,140 F159L probably benign Het
Ppp1ca A G 19: 4,194,520 T193A probably benign Het
Prpf39 A G 12: 65,043,263 D117G probably damaging Het
Ranbp2 C A 10: 58,453,323 T51K possibly damaging Het
Sytl2 A G 7: 90,382,636 probably benign Het
Tenm2 T A 11: 36,024,258 I2150F probably damaging Het
Wdr11 T G 7: 129,593,093 probably null Het
Other mutations in Defb10
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1442:Defb10 UTSW 8 21858928 start codon destroyed probably benign 0.08
R1502:Defb10 UTSW 8 21858956 missense possibly damaging 0.86
R5048:Defb10 UTSW 8 21861871 missense probably damaging 0.98
R5227:Defb10 UTSW 8 21861878 nonsense probably null
R6879:Defb10 UTSW 8 21861882 missense probably benign 0.01
Posted On2012-12-06