Incidental Mutation 'IGL00834:Defb10'
ID10106
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Defb10
Ensembl Gene ENSMUSG00000044743
Gene Namedefensin beta 10
SynonymsDefb7
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.123) question?
Stock #IGL00834
Quality Score
Status
Chromosome8
Chromosomal Location21858901-21862011 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 21861936 bp
ZygosityHeterozygous
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

DomainStartEndE-ValueType
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