Incidental Mutation 'IGL00977:Sting1'
ID 29462
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sting1
Ensembl Gene ENSMUSG00000024349
Gene Name stimulator of interferon response cGAMP interactor 1
Synonyms Tmem173, MPYS, Sting, 2610307O08Rik, ERIS
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00977
Quality Score
Status
Chromosome 18
Chromosomal Location 35866732-35873607 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 35867620 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 359 (E359K)
Ref Sequence ENSEMBL: ENSMUSP00000111393 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097617] [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 benign
Transcript: ENSMUST00000097617
SMART Domains Protein: ENSMUSP00000095222
Gene: ENSMUSG00000073598

DomainStartEndE-ValueType
transmembrane domain 39 61 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000115728
AA Change: E359K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000111393
Gene: ENSMUSG00000024349
AA Change: E359K

DomainStartEndE-ValueType
transmembrane domain 20 37 N/A INTRINSIC
Pfam:TMEM173 44 336 4.7e-125 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143778
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 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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,349,284 (GRCm39) F3619L probably damaging Het
Asic5 T A 3: 81,911,953 (GRCm39) V183E possibly damaging Het
Atp2b1 T C 10: 98,822,837 (GRCm39) V164A possibly damaging Het
Bend3 A G 10: 43,386,945 (GRCm39) Q446R possibly damaging Het
Ccdc80 C A 16: 44,916,627 (GRCm39) T461K probably benign Het
Cep350 T A 1: 155,808,611 (GRCm39) E655V probably null Het
Chi3l1 T C 1: 134,115,711 (GRCm39) F232L possibly damaging Het
Degs1 T A 1: 182,106,774 (GRCm39) I162F probably benign Het
Dhdds A T 4: 133,727,571 (GRCm39) probably benign Het
Herc4 A T 10: 63,147,346 (GRCm39) Y821F probably damaging Het
Hpf1 A G 8: 61,358,753 (GRCm39) H303R probably benign Het
Kcnk10 A T 12: 98,484,792 (GRCm39) C115S probably damaging Het
Map3k13 T C 16: 21,740,514 (GRCm39) S614P probably benign Het
Me2 A T 18: 73,924,248 (GRCm39) N321K probably benign Het
Med16 A T 10: 79,743,459 (GRCm39) M1K probably null Het
Mycbp2 A G 14: 103,410,078 (GRCm39) F2651L probably damaging Het
Prrc2b C T 2: 32,103,822 (GRCm39) T1100I probably benign Het
Scn9a T A 2: 66,314,645 (GRCm39) Q1680L probably damaging Het
Sh3rf2 A G 18: 42,244,283 (GRCm39) T250A probably benign Het
Tpp2 T C 1: 44,022,451 (GRCm39) F950L possibly damaging Het
Vmn2r129 C A 4: 156,686,491 (GRCm39) noncoding transcript Het
Other mutations in Sting1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R4159:Sting1 UTSW 18 35,872,272 (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
Posted On 2013-04-17