Incidental Mutation 'IGL02804:Zbp1'
| ID |
360338 |
| 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 # |
IGL02804
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
173048405-173060715 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 173050939 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 310
(K310N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029018
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029018]
[ENSMUST00000109116]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029018
AA Change: K310N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029018
Gene: ENSMUSG00000027514
AA Change: K310N
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm4 |
A |
T |
4: 144,397,009 (GRCm39) |
I241N |
possibly damaging |
Het |
| Aftph |
T |
C |
11: 20,676,107 (GRCm39) |
T501A |
possibly damaging |
Het |
| Agrn |
A |
G |
4: 156,258,512 (GRCm39) |
S985P |
probably benign |
Het |
| Atxn7l1 |
T |
A |
12: 33,417,788 (GRCm39) |
S650T |
probably damaging |
Het |
| Camk2d |
G |
A |
3: 126,591,387 (GRCm39) |
E286K |
possibly damaging |
Het |
| Card10 |
A |
G |
15: 78,686,649 (GRCm39) |
V56A |
probably damaging |
Het |
| Fcgbpl1 |
G |
T |
7: 27,852,795 (GRCm39) |
V1361L |
probably benign |
Het |
| H2-Q10 |
G |
A |
17: 35,784,147 (GRCm39) |
G263R |
probably damaging |
Het |
| Herc4 |
A |
C |
10: 63,121,454 (GRCm39) |
K365Q |
probably benign |
Het |
| Klhl33 |
T |
C |
14: 51,130,411 (GRCm39) |
H101R |
probably damaging |
Het |
| Lef1 |
A |
G |
3: 130,988,338 (GRCm39) |
N236D |
probably damaging |
Het |
| Lipg |
T |
A |
18: 75,082,159 (GRCm39) |
N255Y |
probably damaging |
Het |
| Lrp5 |
T |
C |
19: 3,650,777 (GRCm39) |
D1219G |
possibly damaging |
Het |
| Myh7b |
T |
C |
2: 155,467,643 (GRCm39) |
L756P |
probably damaging |
Het |
| Nnt |
A |
G |
13: 119,518,210 (GRCm39) |
|
probably null |
Het |
| Or6c88 |
T |
C |
10: 129,407,306 (GRCm39) |
S261P |
possibly damaging |
Het |
| Pcsk9 |
A |
G |
4: 106,314,161 (GRCm39) |
Y145H |
probably damaging |
Het |
| Prkag1 |
G |
A |
15: 98,713,385 (GRCm39) |
S69L |
probably damaging |
Het |
| Prkd2 |
C |
A |
7: 16,589,815 (GRCm39) |
R506S |
probably benign |
Het |
| Ralgapb |
T |
A |
2: 158,268,204 (GRCm39) |
D102E |
possibly damaging |
Het |
| Rbm44 |
A |
G |
1: 91,077,898 (GRCm39) |
|
probably benign |
Het |
| Snap23 |
T |
C |
2: 120,416,637 (GRCm39) |
|
probably benign |
Het |
| Sntg1 |
T |
A |
1: 8,874,182 (GRCm39) |
|
probably benign |
Het |
| Speer4a2 |
T |
A |
5: 26,291,429 (GRCm39) |
K126* |
probably null |
Het |
| Strbp |
T |
C |
2: 37,514,498 (GRCm39) |
|
probably benign |
Het |
| Tmem217 |
G |
A |
17: 29,745,455 (GRCm39) |
L92F |
probably damaging |
Het |
| Troap |
G |
A |
15: 98,975,552 (GRCm39) |
|
probably null |
Het |
| Vmn1r16 |
T |
C |
6: 57,300,467 (GRCm39) |
M52V |
probably benign |
Het |
| Wwox |
G |
A |
8: 115,438,753 (GRCm39) |
G273E |
probably damaging |
Het |
| Zfp423 |
T |
A |
8: 88,509,285 (GRCm39) |
H332L |
probably benign |
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 |
|
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 |
2015-12-18 |
Incidental Mutation