Incidental Mutation 'IGL01644:Defb7'
ID102601
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Defb7
Ensembl Gene ENSMUSG00000037790
Gene Namedefensin beta 7
SynonymsmBD7, Defb15
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.094) question?
Stock #IGL01644
Quality Score
Status
Chromosome8
Chromosomal Location19495097-19497775 bp(+) (GRCm38)
Type of Mutationutr 3 prime
DNA Base Change (assembly) A to T at 19497701 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000045523 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047851]
PDB Structure
SOLUTION STRUCTURE OF THE MOUSE DEFENSIN MBD-7 [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000047851
SMART Domains Protein: ENSMUSP00000045523
Gene: ENSMUSG00000037790

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Defensin_beta 27 60 4.1e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122422
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184215
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
Defa29 A T 8: 21,326,121 C77S possibly damaging 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 Defb7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00857:Defb7 APN 8 19497578 missense possibly damaging 0.92
IGL02833:Defb7 APN 8 19495124 missense probably benign 0.00
IGL02892:Defb7 APN 8 19497662 missense probably benign 0.04
R0112:Defb7 UTSW 8 19495170 splice site probably null
R1485:Defb7 UTSW 8 19495094 unclassified probably null
R1558:Defb7 UTSW 8 19497551 missense probably benign 0.00
R5688:Defb7 UTSW 8 19495151 missense probably damaging 1.00
Posted On2014-01-21