Incidental Mutation 'IGL01739:Zbp1'
ID |
105785 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zbp1
|
Ensembl Gene |
ENSMUSG00000027514 |
Gene Name |
Z-DNA binding protein 1 |
Synonyms |
2010010H03Rik, Dai, mZaDLM |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01739
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
173048405-173060715 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 173054038 bp (GRCm39)
|
Zygosity |
Heterozygous |
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]
|
AlphaFold |
no structure available at present |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acp4 |
G |
T |
7: 43,906,210 (GRCm39) |
Y88* |
probably null |
Het |
Aftph |
T |
C |
11: 20,676,994 (GRCm39) |
D205G |
probably damaging |
Het |
Arhgap31 |
T |
C |
16: 38,423,793 (GRCm39) |
I758V |
probably benign |
Het |
Atg9b |
A |
G |
5: 24,591,513 (GRCm39) |
|
probably null |
Het |
Auts2 |
T |
C |
5: 131,469,056 (GRCm39) |
T754A |
probably benign |
Het |
Birc6 |
A |
G |
17: 74,966,216 (GRCm39) |
M4048V |
probably benign |
Het |
Cacna1s |
T |
C |
1: 136,024,870 (GRCm39) |
|
probably null |
Het |
Cmpk1 |
C |
T |
4: 114,822,121 (GRCm39) |
A143T |
probably benign |
Het |
Cstf2t |
C |
A |
19: 31,060,536 (GRCm39) |
P24Q |
probably damaging |
Het |
Cwc22 |
A |
G |
2: 77,757,640 (GRCm39) |
S163P |
probably damaging |
Het |
Dnaaf11 |
T |
A |
15: 66,321,326 (GRCm39) |
M272L |
probably benign |
Het |
Faf1 |
T |
A |
4: 109,534,278 (GRCm39) |
|
probably benign |
Het |
Focad |
T |
A |
4: 88,289,043 (GRCm39) |
I1279N |
unknown |
Het |
Gp5 |
T |
C |
16: 30,127,459 (GRCm39) |
D405G |
possibly damaging |
Het |
Guf1 |
C |
A |
5: 69,718,501 (GRCm39) |
N213K |
probably damaging |
Het |
Hacd4 |
T |
C |
4: 88,341,285 (GRCm39) |
T145A |
probably damaging |
Het |
Itga11 |
T |
C |
9: 62,681,399 (GRCm39) |
M1005T |
probably benign |
Het |
Mast4 |
T |
A |
13: 102,910,781 (GRCm39) |
T621S |
probably damaging |
Het |
Mme |
T |
C |
3: 63,247,534 (GRCm39) |
M273T |
possibly damaging |
Het |
Mos |
A |
G |
4: 3,871,816 (GRCm39) |
|
probably benign |
Het |
Msln |
C |
T |
17: 25,969,004 (GRCm39) |
|
probably null |
Het |
Mtg1 |
A |
T |
7: 139,730,149 (GRCm39) |
Q315L |
probably benign |
Het |
Myh1 |
A |
G |
11: 67,105,354 (GRCm39) |
E1048G |
probably damaging |
Het |
Ndufa9 |
C |
T |
6: 126,821,777 (GRCm39) |
G66D |
probably damaging |
Het |
Nr1i2 |
T |
C |
16: 38,086,333 (GRCm39) |
K44R |
probably benign |
Het |
Nup155 |
T |
A |
15: 8,165,272 (GRCm39) |
M636K |
probably benign |
Het |
Or12d12 |
A |
T |
17: 37,610,673 (GRCm39) |
F213L |
probably benign |
Het |
Or5b96 |
T |
A |
19: 12,867,513 (GRCm39) |
T143S |
probably benign |
Het |
Pde4b |
A |
T |
4: 102,458,832 (GRCm39) |
Q496L |
probably damaging |
Het |
Plekha6 |
T |
C |
1: 133,187,869 (GRCm39) |
V130A |
probably benign |
Het |
Prag1 |
A |
G |
8: 36,569,834 (GRCm39) |
N139S |
probably benign |
Het |
Rbpj-ps3 |
T |
C |
6: 46,507,694 (GRCm39) |
T19A |
probably benign |
Het |
Scai |
A |
G |
2: 38,984,803 (GRCm39) |
|
probably benign |
Het |
Slc12a7 |
A |
G |
13: 73,947,733 (GRCm39) |
T617A |
probably benign |
Het |
Slc15a2 |
T |
C |
16: 36,576,592 (GRCm39) |
M481V |
probably benign |
Het |
Snx5 |
A |
G |
2: 144,112,325 (GRCm39) |
L8P |
probably benign |
Het |
Spg11 |
C |
T |
2: 121,945,152 (GRCm39) |
A123T |
probably damaging |
Het |
Supt6 |
T |
A |
11: 78,113,013 (GRCm39) |
I977F |
probably damaging |
Het |
Tjp3 |
T |
C |
10: 81,114,490 (GRCm39) |
D442G |
probably benign |
Het |
Ttc21b |
A |
T |
2: 66,068,200 (GRCm39) |
N275K |
probably benign |
Het |
Vmn2r50 |
A |
G |
7: 9,771,364 (GRCm39) |
F779S |
probably damaging |
Het |
Xirp2 |
A |
T |
2: 67,345,482 (GRCm39) |
R2574S |
probably benign |
Het |
|
Other mutations in Zbp1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R6705:Zbp1
|
UTSW |
2 |
173,055,680 (GRCm39) |
nonsense |
probably null |
|
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 |
|
|
Posted On |
2014-01-21 |