Incidental Mutation 'R6705:Zbp1'
ID 528887
Institutional Source Beutler Lab
Gene Symbol Zbp1
Ensembl Gene ENSMUSG00000027514
Gene Name Z-DNA binding protein 1
Synonyms 2010010H03Rik, Dai, mZaDLM
MMRRC Submission 044823-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6705 (G1)
Quality Score 202.009
Status Validated
Chromosome 2
Chromosomal Location 173048405-173060715 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 173055680 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 161 (C161*)
Ref Sequence ENSEMBL: ENSMUSP00000104744 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029018] [ENSMUST00000109116]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000029018
SMART Domains Protein: ENSMUSP00000029018
Gene: ENSMUSG00000027514

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 null
Transcript: ENSMUST00000109116
AA Change: C161*
SMART Domains Protein: ENSMUSP00000104744
Gene: ENSMUSG00000027514
AA Change: C161*

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
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 93.7%
Validation Efficiency 100% (44/44)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 G A 19: 57,204,253 (GRCm39) T46I probably benign Het
Afdn G A 17: 14,108,283 (GRCm39) V1269I probably benign Het
Aldh5a1 A T 13: 25,096,253 (GRCm39) N448K probably damaging Het
Cant1 G T 11: 118,298,698 (GRCm39) T355K probably damaging Het
Ccn2 T A 10: 24,471,853 (GRCm39) L25Q probably damaging Het
Comp C A 8: 70,829,387 (GRCm39) N321K probably damaging Het
D1Pas1 G T 1: 186,700,576 (GRCm39) E168D probably benign Het
Ddx23 G A 15: 98,550,849 (GRCm39) R111* probably null Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Erlin2 T A 8: 27,526,468 (GRCm39) L276Q probably damaging Het
Etaa1 T C 11: 17,895,639 (GRCm39) N826S probably benign Het
Fam168b A T 1: 34,867,864 (GRCm39) N45K probably damaging Het
Gas2l2 G A 11: 83,313,462 (GRCm39) R617* probably null Het
Gtf3c2 C A 5: 31,323,352 (GRCm39) C533F possibly damaging Het
Hdac5 T C 11: 102,092,062 (GRCm39) T676A probably damaging Het
Helb A G 10: 119,925,716 (GRCm39) probably null Het
Igkv3-7 A T 6: 70,585,004 (GRCm39) S95C probably benign Het
Kdm3b A G 18: 34,952,926 (GRCm39) I899V probably damaging Het
Lgr5 G A 10: 115,423,193 (GRCm39) S69F probably damaging Het
Lrrc55 A T 2: 85,026,699 (GRCm39) D108E probably benign Het
Mphosph9 T C 5: 124,429,027 (GRCm39) N667S possibly damaging Het
Myf6 C T 10: 107,329,690 (GRCm39) V198M possibly damaging Het
Nav2 T C 7: 49,201,664 (GRCm39) S1413P probably damaging Het
Nfe2l1 A C 11: 96,718,451 (GRCm39) V28G probably damaging Het
Nup210 G T 6: 91,064,942 (GRCm39) T186K possibly damaging Het
Or13a18 T A 7: 140,190,697 (GRCm39) M206K probably damaging Het
Or6c1b G A 10: 129,272,941 (GRCm39) D87N probably benign Het
Or8b12 T A 9: 37,658,030 (GRCm39) I200N possibly damaging Het
Or8b4 T A 9: 37,830,080 (GRCm39) N42K probably damaging Het
Ppfia1 G A 7: 144,072,911 (GRCm39) T301M possibly damaging Het
Ppp1r14c A T 10: 3,316,890 (GRCm39) Y75F probably damaging Het
Ppp1r3g C A 13: 36,152,880 (GRCm39) A100E probably benign Het
Rictor A G 15: 6,823,493 (GRCm39) T1557A probably benign Het
Shc1 C T 3: 89,330,266 (GRCm39) R67* probably null Het
Skint10 A T 4: 112,630,301 (GRCm39) probably benign Het
Slk A G 19: 47,597,498 (GRCm39) N102S probably benign Het
Tbc1d5 T C 17: 51,332,203 (GRCm39) probably benign Het
Tiam2 G A 17: 3,568,518 (GRCm39) V1555I probably benign Het
Vmn1r174 C A 7: 23,453,851 (GRCm39) S172R probably benign Het
Vps39 A T 2: 120,151,157 (GRCm39) N823K probably benign Het
Wdr27 A T 17: 15,154,852 (GRCm39) Y22N probably damaging Het
Xrn2 A G 2: 146,878,582 (GRCm39) probably null Het
Zfp236 T A 18: 82,651,862 (GRCm39) E821V probably damaging Het
Other mutations in Zbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01739:Zbp1 APN 2 173,054,038 (GRCm39) missense possibly damaging 0.95
IGL01924:Zbp1 APN 2 173,054,047 (GRCm39) missense probably benign 0.09
IGL02804:Zbp1 APN 2 173,050,939 (GRCm39) missense probably damaging 1.00
PIT4362001:Zbp1 UTSW 2 173,058,783 (GRCm39) missense probably damaging 1.00
R2100:Zbp1 UTSW 2 173,051,037 (GRCm39) missense probably damaging 1.00
R2269:Zbp1 UTSW 2 173,060,616 (GRCm39) start gained probably benign
R3795:Zbp1 UTSW 2 173,053,972 (GRCm39) missense probably benign 0.21
R4649:Zbp1 UTSW 2 173,049,608 (GRCm39) missense possibly damaging 0.56
R4653:Zbp1 UTSW 2 173,049,608 (GRCm39) missense possibly damaging 0.56
R4792:Zbp1 UTSW 2 173,051,006 (GRCm39) missense probably damaging 1.00
R4807:Zbp1 UTSW 2 173,053,999 (GRCm39) missense probably damaging 1.00
R5899:Zbp1 UTSW 2 173,052,340 (GRCm39) missense probably benign 0.29
R6290:Zbp1 UTSW 2 173,057,634 (GRCm39) missense probably damaging 1.00
R6835:Zbp1 UTSW 2 173,055,704 (GRCm39) critical splice acceptor site probably null
R7269:Zbp1 UTSW 2 173,055,665 (GRCm39) missense unknown
R7337:Zbp1 UTSW 2 173,060,546 (GRCm39) nonsense probably null
R7419:Zbp1 UTSW 2 173,050,958 (GRCm39) missense probably benign 0.00
R7429:Zbp1 UTSW 2 173,055,611 (GRCm39) missense unknown
R7508:Zbp1 UTSW 2 173,049,604 (GRCm39) missense possibly damaging 0.72
R8021:Zbp1 UTSW 2 173,051,003 (GRCm39) missense possibly damaging 0.78
R9182:Zbp1 UTSW 2 173,050,933 (GRCm39) nonsense probably null
R9294:Zbp1 UTSW 2 173,052,436 (GRCm39) missense possibly damaging 0.79
Z1177:Zbp1 UTSW 2 173,049,534 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GCATACTTGGGATGAAACAGTTTAG -3'
(R):5'- TAGTCACTTGAAGAAGGCAGGC -3'

Sequencing Primer
(F):5'- CTTGGGATGAAACAGTTTAGAGATGC -3'
(R):5'- CTGGGCTAGACTTGTATAGAAGCC -3'
Posted On 2018-07-24