Incidental Mutation 'R4159:Sting1'
| ID |
371064 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sting1
|
| Ensembl Gene |
ENSMUSG00000024349 |
| Gene Name |
stimulator of interferon response cGAMP interactor 1 |
| Synonyms |
Tmem173, MPYS, Sting, 2610307O08Rik, ERIS |
| MMRRC Submission |
041002-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4159 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
35866732-35873607 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 35872272 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 77
(Y77N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111393
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115728]
|
| AlphaFold |
Q3TBT3 |
| PDB Structure |
Immune activator bound to receptor [X-RAY DIFFRACTION]
mSTING/c-di-GMP [X-RAY DIFFRACTION]
mSTING [X-RAY DIFFRACTION]
Crystal structure of mSting in complex with c[G(2',5')pA(3',5')p] [X-RAY DIFFRACTION]
Crystal structure of mSting in complex with c[G(3',5')pA(3',5')p] [X-RAY DIFFRACTION]
Crystal structure of mSting in complex with DMXAA [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115728
AA Change: Y77N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000111393
Gene: ENSMUSG00000024349
AA Change: Y77N
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
37 |
N/A |
INTRINSIC |
|
Pfam:TMEM173
|
44 |
336 |
4.7e-125 |
PFAM |
|
| Meta Mutation Damage Score |
0.2986 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
96% (45/47) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a five transmembrane protein that functions as a major regulator of the innate immune response to viral and bacterial infections. The encoded protein is a pattern recognition receptor that detects cytosolic nucleic acids and transmits signals that activate type I interferon responses. The encoded protein has also been shown to play a role in apoptotic signaling by associating with type II major histocompatibility complex. Mutations in this gene are the cause of infantile-onset STING-associated vasculopathy. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to viral infection and abnormal innate immunity. Mice homozygous for an ENU-induced allele exhibit altered response to bacterial and viral infection. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(4) : Targeted(3) Chemically induced(1)
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam4 |
T |
G |
12: 81,466,806 (GRCm39) |
D605A |
probably damaging |
Het |
| Adcy1 |
A |
G |
11: 7,013,889 (GRCm39) |
H97R |
probably damaging |
Het |
| Amdhd1 |
A |
G |
10: 93,370,512 (GRCm39) |
Y109H |
probably damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,722,593 (GRCm39) |
N372S |
possibly damaging |
Het |
| Aoc2 |
G |
A |
11: 101,216,122 (GRCm39) |
M68I |
probably damaging |
Het |
| Aspscr1 |
G |
A |
11: 120,599,502 (GRCm39) |
A377T |
probably damaging |
Het |
| Bltp1 |
T |
A |
3: 36,985,232 (GRCm39) |
M854K |
probably benign |
Het |
| Bltp3a |
A |
G |
17: 28,103,061 (GRCm39) |
Y365C |
probably damaging |
Het |
| Cacnb1 |
G |
C |
11: 97,903,100 (GRCm39) |
C154W |
probably damaging |
Het |
| Ccdc186 |
G |
A |
19: 56,781,924 (GRCm39) |
R27* |
probably null |
Het |
| Clnk |
C |
A |
5: 38,899,138 (GRCm39) |
|
probably benign |
Het |
| Dse |
A |
G |
10: 34,029,330 (GRCm39) |
F587L |
probably damaging |
Het |
| Fut8 |
T |
C |
12: 77,440,523 (GRCm39) |
L170P |
probably damaging |
Het |
| G3bp2 |
T |
C |
5: 92,212,260 (GRCm39) |
H217R |
probably benign |
Het |
| Gm19345 |
G |
A |
7: 19,588,886 (GRCm39) |
|
probably benign |
Het |
| Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
| Kcne4 |
A |
G |
1: 78,795,819 (GRCm39) |
N156D |
probably benign |
Het |
| Met |
G |
T |
6: 17,562,271 (GRCm39) |
|
probably null |
Het |
| Mfsd3 |
T |
C |
15: 76,585,945 (GRCm39) |
L26P |
probably damaging |
Het |
| Oasl1 |
A |
G |
5: 115,075,073 (GRCm39) |
K378E |
possibly damaging |
Het |
| Pde8a |
A |
G |
7: 80,970,407 (GRCm39) |
I510V |
probably benign |
Het |
| Pds5a |
T |
C |
5: 65,821,839 (GRCm39) |
T120A |
possibly damaging |
Het |
| Phf8-ps |
G |
A |
17: 33,285,023 (GRCm39) |
T593I |
probably benign |
Het |
| Phkb |
T |
A |
8: 86,748,162 (GRCm39) |
|
probably null |
Het |
| Ptprz1 |
A |
T |
6: 23,001,683 (GRCm39) |
K1258* |
probably null |
Het |
| Senp7 |
C |
A |
16: 55,973,832 (GRCm39) |
P351Q |
possibly damaging |
Het |
| Slc15a5 |
G |
T |
6: 138,049,938 (GRCm39) |
T159K |
possibly damaging |
Het |
| Slc39a6 |
A |
G |
18: 24,730,885 (GRCm39) |
V362A |
possibly damaging |
Het |
| Spef2 |
A |
T |
15: 9,676,407 (GRCm39) |
D721E |
probably damaging |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Tnxb |
A |
G |
17: 34,930,491 (GRCm39) |
T2059A |
probably damaging |
Het |
| Ttll8 |
T |
C |
15: 88,801,444 (GRCm39) |
N415D |
probably benign |
Het |
| Ube2d2a |
A |
T |
18: 35,903,577 (GRCm39) |
|
probably benign |
Het |
| Unc79 |
A |
G |
12: 103,036,512 (GRCm39) |
|
probably benign |
Het |
| Ush2a |
G |
A |
1: 188,460,907 (GRCm39) |
V2723M |
probably damaging |
Het |
| Vmn2r102 |
T |
A |
17: 19,898,088 (GRCm39) |
C368S |
probably damaging |
Het |
| Vmn2r3 |
G |
A |
3: 64,194,850 (GRCm39) |
Q23* |
probably null |
Het |
|
| Other mutations in Sting1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00977:Sting1
|
APN |
18 |
35,867,620 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0226:Sting1
|
UTSW |
18 |
35,872,141 (GRCm39) |
missense |
probably benign |
|
|
R0388:Sting1
|
UTSW |
18 |
35,868,164 (GRCm39) |
splice site |
probably null |
|
|
R0924:Sting1
|
UTSW |
18 |
35,868,154 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2102:Sting1
|
UTSW |
18 |
35,868,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4604:Sting1
|
UTSW |
18 |
35,871,743 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6209:Sting1
|
UTSW |
18 |
35,869,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6866:Sting1
|
UTSW |
18 |
35,872,482 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7008:Sting1
|
UTSW |
18 |
35,868,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7083:Sting1
|
UTSW |
18 |
35,867,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7492:Sting1
|
UTSW |
18 |
35,871,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7726:Sting1
|
UTSW |
18 |
35,868,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7899:Sting1
|
UTSW |
18 |
35,867,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8424:Sting1
|
UTSW |
18 |
35,872,223 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9084:Sting1
|
UTSW |
18 |
35,869,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCATAGCTCCACACCCAGG -3'
(R):5'- AAACCTCTGCTGTCTGGCTG -3'
Sequencing Primer
(F):5'- ATTAGTCTGAGTCTCAGCACTG -3'
(R):5'- TGAAGAGCTGTGCCATGTCCAG -3'
|
| Posted On |
2016-02-11 |
Incidental Mutation