Incidental Mutation 'R3795:Zbp1'
| ID |
272712 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R3795 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
173048405-173060715 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 173053972 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 183
(H183R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029018
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029018]
[ENSMUST00000109116]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029018
AA Change: H183R
PolyPhen 2
Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000029018
Gene: ENSMUSG00000027514
AA Change: H183R
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
97% (32/33) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
T |
C |
5: 124,228,212 (GRCm39) |
T10A |
probably benign |
Het |
| Adh1 |
T |
A |
3: 137,985,526 (GRCm39) |
L18H |
possibly damaging |
Het |
| Bltp1 |
A |
G |
3: 37,084,714 (GRCm39) |
T426A |
probably benign |
Het |
| Capn13 |
C |
A |
17: 73,644,387 (GRCm39) |
V381L |
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,778,735 (GRCm39) |
|
probably benign |
Het |
| Cmas |
T |
A |
6: 142,713,594 (GRCm39) |
D206E |
probably benign |
Het |
| Cntnap1 |
A |
G |
11: 101,077,590 (GRCm39) |
E1084G |
probably damaging |
Het |
| Cpz |
A |
G |
5: 35,669,093 (GRCm39) |
V346A |
probably benign |
Het |
| Dhrs3 |
A |
G |
4: 144,645,962 (GRCm39) |
D116G |
probably damaging |
Het |
| Efcab3 |
A |
G |
11: 104,624,501 (GRCm39) |
E844G |
possibly damaging |
Het |
| Inpp4b |
T |
C |
8: 82,759,845 (GRCm39) |
V445A |
probably damaging |
Het |
| Katnip |
A |
G |
7: 125,419,261 (GRCm39) |
N476S |
probably benign |
Het |
| Lhx2 |
T |
C |
2: 38,243,359 (GRCm39) |
C12R |
probably damaging |
Het |
| Map3k2 |
T |
C |
18: 32,359,701 (GRCm39) |
M518T |
probably benign |
Het |
| Mrc1 |
T |
A |
2: 14,293,793 (GRCm39) |
|
probably benign |
Het |
| Nlrp4e |
T |
A |
7: 23,020,228 (GRCm39) |
D238E |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,922,667 (GRCm39) |
Y6543H |
probably damaging |
Het |
| Pigv |
A |
G |
4: 133,392,502 (GRCm39) |
S223P |
possibly damaging |
Het |
| Pkdcc |
A |
G |
17: 83,531,382 (GRCm39) |
T464A |
probably damaging |
Het |
| Polr2k |
A |
G |
15: 36,175,193 (GRCm39) |
I18V |
probably damaging |
Het |
| Psg20 |
A |
G |
7: 18,418,374 (GRCm39) |
V131A |
probably benign |
Het |
| Ptpro |
T |
C |
6: 137,357,307 (GRCm39) |
F266S |
probably benign |
Het |
| S100a7l2 |
T |
C |
3: 90,995,730 (GRCm39) |
I57M |
possibly damaging |
Het |
| Sdk2 |
G |
A |
11: 113,747,522 (GRCm39) |
R663* |
probably null |
Het |
| Szt2 |
G |
T |
4: 118,248,927 (GRCm39) |
L586I |
probably damaging |
Het |
| Tln2 |
T |
C |
9: 67,163,197 (GRCm39) |
I1113V |
probably damaging |
Het |
| Ube2ql1 |
G |
T |
13: 69,852,231 (GRCm39) |
A282E |
possibly damaging |
Het |
| Vmn2r50 |
T |
A |
7: 9,771,851 (GRCm39) |
M617L |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,085,466 (GRCm39) |
V676A |
probably damaging |
Het |
| Wdr47 |
T |
C |
3: 108,532,053 (GRCm39) |
|
probably null |
Het |
| Zfp352 |
C |
T |
4: 90,113,386 (GRCm39) |
H509Y |
probably damaging |
Het |
| Zfp988 |
G |
A |
4: 147,416,040 (GRCm39) |
R158Q |
possibly damaging |
Het |
|
| Other mutations in Zbp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTTTTGATCTCATTGAGAAGGAG -3'
(R):5'- TTCAGGTGTCAGCAAGCTCC -3'
Sequencing Primer
(F):5'- TCACTCTGAGAAAGGCCGTG -3'
(R):5'- CAAGCTCCCAGGGAAGTTCAG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation