Incidental Mutation 'IGL01739:Zbp1'
ID105785
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zbp1
Ensembl Gene ENSMUSG00000027514
Gene NameZ-DNA binding protein 1
SynonymsDai, mZaDLM
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01739
Quality Score
Status
Chromosome2
Chromosomal Location173206612-173218923 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 173212245 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 161 (E161G)
Ref Sequence ENSEMBL: ENSMUSP00000029018 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029018] [ENSMUST00000109116]
Predicted Effect possibly damaging
Transcript: ENSMUST00000029018
AA Change: E161G

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000029018
Gene: ENSMUSG00000027514
AA Change: E161G

DomainStartEndE-ValueType
Zalpha 6 72 5.32e-23 SMART
Zalpha 82 147 7.64e-24 SMART
Pfam:RHIM 163 202 1.8e-8 PFAM
Pfam:RHIM 208 258 1.2e-5 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109116
SMART Domains Protein: ENSMUSP00000104744
Gene: ENSMUSG00000027514

DomainStartEndE-ValueType
Zalpha 6 72 5.32e-23 SMART
Zalpha 82 147 7.64e-24 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146802
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a Z-DNA binding protein. The encoded protein plays a role in the innate immune response by binding to foreign DNA and inducing type-I interferon production. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a knock-out allele display normal innate immune activation by double-stranded B-form DNA (B-DNA) as well as normal adaptive immune responses to DNA vaccination. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp4 G T 7: 44,256,786 Y88* probably null Het
Aftph T C 11: 20,726,994 D205G probably damaging Het
Arhgap31 T C 16: 38,603,431 I758V probably benign Het
Atg9b A G 5: 24,386,515 probably null Het
Auts2 T C 5: 131,440,218 T754A probably benign Het
Birc6 A G 17: 74,659,221 M4048V probably benign Het
Cacna1s T C 1: 136,097,132 probably null Het
Cmpk1 C T 4: 114,964,924 A143T probably benign Het
Cstf2t C A 19: 31,083,136 P24Q probably damaging Het
Cwc22 A G 2: 77,927,296 S163P probably damaging Het
Faf1 T A 4: 109,677,081 probably benign Het
Focad T A 4: 88,370,806 I1279N unknown Het
Gp5 T C 16: 30,308,641 D405G possibly damaging Het
Guf1 C A 5: 69,561,158 N213K probably damaging Het
Hacd4 T C 4: 88,423,048 T145A probably damaging Het
Itga11 T C 9: 62,774,117 M1005T probably benign Het
Lrrc6 T A 15: 66,449,477 M272L probably benign Het
Mast4 T A 13: 102,774,273 T621S probably damaging Het
Mme T C 3: 63,340,113 M273T possibly damaging Het
Mos A G 4: 3,871,816 probably benign Het
Msln C T 17: 25,750,030 probably null Het
Mtg1 A T 7: 140,150,236 Q315L probably benign Het
Myh1 A G 11: 67,214,528 E1048G probably damaging Het
Ndufa9 C T 6: 126,844,814 G66D probably damaging Het
Nr1i2 T C 16: 38,265,971 K44R probably benign Het
Nup155 T A 15: 8,135,788 M636K probably benign Het
Olfr101 A T 17: 37,299,782 F213L probably benign Het
Olfr1446 T A 19: 12,890,149 T143S probably benign Het
Pde4b A T 4: 102,601,635 Q496L probably damaging Het
Plekha6 T C 1: 133,260,131 V130A probably benign Het
Prag1 A G 8: 36,102,680 N139S probably benign Het
Rbpj-ps3 T C 6: 46,530,760 T19A probably benign Het
Scai A G 2: 39,094,791 probably benign Het
Slc12a7 A G 13: 73,799,614 T617A probably benign Het
Slc15a2 T C 16: 36,756,230 M481V probably benign Het
Snx5 A G 2: 144,270,405 L8P probably benign Het
Spg11 C T 2: 122,114,671 A123T probably damaging Het
Supt6 T A 11: 78,222,187 I977F probably damaging Het
Tjp3 T C 10: 81,278,656 D442G probably benign Het
Ttc21b A T 2: 66,237,856 N275K probably benign Het
Vmn2r50 A G 7: 10,037,437 F779S probably damaging Het
Xirp2 A T 2: 67,515,138 R2574S probably benign Het
Other mutations in Zbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01924:Zbp1 APN 2 173212254 missense probably benign 0.09
IGL02804:Zbp1 APN 2 173209146 missense probably damaging 1.00
PIT4362001:Zbp1 UTSW 2 173216990 missense probably damaging 1.00
R2100:Zbp1 UTSW 2 173209244 missense probably damaging 1.00
R2269:Zbp1 UTSW 2 173218823 start gained probably benign
R3795:Zbp1 UTSW 2 173212179 missense probably benign 0.21
R4649:Zbp1 UTSW 2 173207815 missense possibly damaging 0.56
R4653:Zbp1 UTSW 2 173207815 missense possibly damaging 0.56
R4792:Zbp1 UTSW 2 173209213 missense probably damaging 1.00
R4807:Zbp1 UTSW 2 173212206 missense probably damaging 1.00
R5899:Zbp1 UTSW 2 173210547 missense probably benign 0.29
R6290:Zbp1 UTSW 2 173215841 missense probably damaging 1.00
R6705:Zbp1 UTSW 2 173213887 nonsense probably null
R6835:Zbp1 UTSW 2 173213911 critical splice acceptor site probably null
R7269:Zbp1 UTSW 2 173213872 missense unknown
R7337:Zbp1 UTSW 2 173218753 nonsense probably null
R7419:Zbp1 UTSW 2 173209165 missense probably benign 0.00
R7429:Zbp1 UTSW 2 173213818 missense unknown
R7508:Zbp1 UTSW 2 173207811 missense possibly damaging 0.72
R8021:Zbp1 UTSW 2 173209210 missense possibly damaging 0.78
Z1177:Zbp1 UTSW 2 173207741 critical splice donor site probably null
Posted On2014-01-21