Incidental Mutation 'R6835:Zbp1'
| ID |
534380 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbp1
|
| Ensembl Gene |
ENSMUSG00000027514 |
| Gene Name |
Z-DNA binding protein 1 |
| Synonyms |
2010010H03Rik, Dai, mZaDLM |
| MMRRC Submission |
044944-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6835 (G1)
|
| Quality Score |
124.008 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
173048405-173060715 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to A
at 173055704 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104744
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029018]
[ENSMUST00000109116]
[ENSMUST00000109116]
[ENSMUST00000109116]
[ENSMUST00000109116]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029018
|
| SMART Domains |
Protein: ENSMUSP00000029018
Gene: ENSMUSG00000027514
| 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 null
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 |
probably null
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 |
probably null
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 |
probably null
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl11 |
A |
G |
9: 107,807,761 (GRCm39) |
R695G |
probably benign |
Het |
| Arhgef4 |
A |
G |
1: 34,845,574 (GRCm39) |
H1533R |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,949,499 (GRCm39) |
L3120P |
probably damaging |
Het |
| Cfap46 |
T |
A |
7: 139,232,414 (GRCm39) |
I850F |
probably damaging |
Het |
| Crym |
A |
C |
7: 119,785,868 (GRCm39) |
S311A |
probably benign |
Het |
| Cttn |
T |
C |
7: 144,010,234 (GRCm39) |
|
probably null |
Het |
| Dtnb |
C |
T |
12: 3,682,841 (GRCm39) |
|
probably benign |
Het |
| Edem1 |
T |
C |
6: 108,831,360 (GRCm39) |
V607A |
probably benign |
Het |
| Etfa |
A |
G |
9: 55,403,103 (GRCm39) |
V64A |
probably benign |
Het |
| Fam133b |
A |
G |
5: 3,604,732 (GRCm39) |
T40A |
possibly damaging |
Het |
| Fmn2 |
C |
A |
1: 174,527,235 (GRCm39) |
D1442E |
probably damaging |
Het |
| Gpi1 |
T |
C |
7: 33,926,563 (GRCm39) |
K128E |
possibly damaging |
Het |
| Gpr179 |
A |
T |
11: 97,238,293 (GRCm39) |
F310L |
probably damaging |
Het |
| Hdac7 |
T |
A |
15: 97,700,628 (GRCm39) |
H531L |
probably damaging |
Het |
| Hfm1 |
G |
A |
5: 107,026,681 (GRCm39) |
R145* |
probably null |
Het |
| Hsp90b1 |
A |
T |
10: 86,529,949 (GRCm39) |
D573E |
probably damaging |
Het |
| Hunk |
T |
G |
16: 90,269,412 (GRCm39) |
W243G |
probably damaging |
Het |
| Icam1 |
G |
T |
9: 20,938,421 (GRCm39) |
G327W |
possibly damaging |
Het |
| Ino80d |
C |
A |
1: 63,113,485 (GRCm39) |
A322S |
probably benign |
Het |
| Irag1 |
T |
G |
7: 110,520,541 (GRCm39) |
E278A |
probably damaging |
Het |
| Itpkc |
A |
C |
7: 26,927,240 (GRCm39) |
S225A |
probably benign |
Het |
| Krt75 |
C |
T |
15: 101,479,472 (GRCm39) |
R286Q |
probably benign |
Het |
| Lmnb2 |
A |
G |
10: 80,745,794 (GRCm39) |
L95P |
probably damaging |
Het |
| Mns1 |
T |
C |
9: 72,360,026 (GRCm39) |
M392T |
probably damaging |
Het |
| Morc3 |
A |
T |
16: 93,644,309 (GRCm39) |
N200I |
probably damaging |
Het |
| Myadm |
T |
C |
7: 3,346,192 (GRCm39) |
V318A |
possibly damaging |
Het |
| Nt5dc1 |
A |
C |
10: 34,186,375 (GRCm39) |
S398A |
probably benign |
Het |
| Or13c7 |
T |
C |
4: 43,854,912 (GRCm39) |
V201A |
probably benign |
Het |
| Or1e31 |
A |
G |
11: 73,690,061 (GRCm39) |
I174T |
possibly damaging |
Het |
| Pcdhga2 |
T |
C |
18: 37,803,842 (GRCm39) |
I562T |
probably damaging |
Het |
| Pcdhgb1 |
T |
A |
18: 37,813,553 (GRCm39) |
C15S |
probably benign |
Het |
| Pikfyve |
T |
G |
1: 65,298,002 (GRCm39) |
L1532R |
probably damaging |
Het |
| Rdh7 |
T |
A |
10: 127,720,608 (GRCm39) |
T255S |
probably benign |
Het |
| Rtel1 |
A |
G |
2: 180,997,746 (GRCm39) |
T1165A |
probably benign |
Het |
| Sdk2 |
C |
T |
11: 113,720,874 (GRCm39) |
A1352T |
probably damaging |
Het |
| Strip2 |
T |
C |
6: 29,941,916 (GRCm39) |
S629P |
probably damaging |
Het |
| Taf5 |
A |
G |
19: 47,065,776 (GRCm39) |
T494A |
possibly damaging |
Het |
| Tek |
T |
G |
4: 94,741,671 (GRCm39) |
N809K |
possibly damaging |
Het |
| Tmbim7 |
A |
T |
5: 3,711,943 (GRCm39) |
T63S |
probably benign |
Het |
| Utrn |
A |
T |
10: 12,603,508 (GRCm39) |
L624Q |
probably damaging |
Het |
| Xbp1 |
A |
G |
11: 5,471,809 (GRCm39) |
|
probably benign |
Het |
| Zfp112 |
T |
C |
7: 23,825,231 (GRCm39) |
C400R |
probably damaging |
Het |
| Zfp202 |
C |
T |
9: 40,121,531 (GRCm39) |
|
probably null |
Het |
| Zfp747 |
T |
C |
7: 126,973,219 (GRCm39) |
E317G |
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 |
|
|
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 |
|
|
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'- CTTGGGATGAAACAGTTTAGAGATGC -3'
(R):5'- TCACTTGAAGAAGGCAGGC -3'
Sequencing Primer
(F):5'- gtggtgctttaatcccaga -3'
(R):5'- ACAGTGCCGGGCTCTTATC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation