Incidental Mutation 'IGL01644:Defa29'
ID102581
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Defa29
Ensembl Gene ENSMUSG00000074437
Gene Namedefensin, alpha, 29
SynonymsCRS1C-2, 2010319H24Rik, Defcr-rs1, 2010300L12Rik, Defa-rs1
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01644
Quality Score
Status
Chromosome8
Chromosomal Location21325887-21327020 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 21326121 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 77 (C77S)
Ref Sequence ENSEMBL: ENSMUSP00000096489 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098890]
Predicted Effect possibly damaging
Transcript: ENSMUST00000098890
AA Change: C77S

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000096489
Gene: ENSMUSG00000074437
AA Change: C77S

DomainStartEndE-ValueType
Pfam:Defensin_propep 1 51 2.9e-26 PFAM
low complexity region 65 93 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000117779
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179812
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg16l2 A G 7: 101,297,217 *82R probably null Het
Crb1 T A 1: 139,237,630 R919* probably null Het
Csf1 T C 3: 107,753,842 T120A possibly damaging Het
Defb7 A T 8: 19,497,701 probably benign Het
Ece2 T C 16: 20,617,866 V146A possibly damaging Het
Efcab6 T A 15: 84,033,072 S96C probably damaging Het
Gm7729 T C 18: 27,598,819 noncoding transcript Het
Hapln2 G T 3: 88,022,637 R311S probably damaging Het
Impg2 C T 16: 56,259,870 P679L probably benign Het
Kansl1l A G 1: 66,801,316 I275T probably benign Het
Med29 A G 7: 28,390,847 F108L probably damaging Het
Nrxn1 C T 17: 90,620,873 C789Y possibly damaging Het
Olfr1230 T C 2: 89,296,632 I213V probably benign Het
Olfr1490 A T 19: 13,655,404 probably benign Het
Palld T C 8: 61,877,478 K122E probably benign Het
Ppl A T 16: 5,091,855 L864H probably damaging Het
Ptov1 C A 7: 44,867,502 E37* probably null Het
Sspo T C 6: 48,452,502 V482A probably benign Het
St7l C T 3: 104,919,456 R377* probably null Het
Ttn G T 2: 76,755,383 P13643T probably damaging Het
Vcan T A 13: 89,688,675 T2917S probably benign Het
Other mutations in Defa29
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02639:Defa29 APN 8 21326121 missense possibly damaging 0.73
IGL03159:Defa29 APN 8 21326962 missense possibly damaging 0.89
FR4342:Defa29 UTSW 8 21326144 missense probably benign
R1912:Defa29 UTSW 8 21326012 missense possibly damaging 0.66
R1932:Defa29 UTSW 8 21326849 missense probably damaging 0.96
Posted On2014-01-21