Incidental Mutation 'IGL00977:Tmem173'
ID29462
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem173
Ensembl Gene ENSMUSG00000024349
Gene Nametransmembrane protein 173
Synonyms2610307O08Rik, MPYS, Sting, ERIS
Accession Numbers

Ncbi RefSeq:NM_028261.1; MGI: 1919762

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00977
Quality Score
Status
Chromosome18
Chromosomal Location35733678-35740554 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 35734567 bp
ZygosityHeterozygous
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]
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 Strain: 3817418; 4939597
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: 9,399,284 F3619L probably damaging Het
Asic5 T A 3: 82,004,646 V183E possibly damaging Het
Atp2b1 T C 10: 98,986,975 V164A possibly damaging Het
Bend3 A G 10: 43,510,949 Q446R possibly damaging Het
Ccdc80 C A 16: 45,096,264 T461K probably benign Het
Cep350 T A 1: 155,932,865 E655V probably null Het
Chil1 T C 1: 134,187,973 F232L possibly damaging Het
Degs1 T A 1: 182,279,209 I162F probably benign Het
Dhdds A T 4: 134,000,260 probably benign Het
Herc4 A T 10: 63,311,567 Y821F probably damaging Het
Hpf1 A G 8: 60,905,719 H303R probably benign Het
Kcnk10 A T 12: 98,518,533 C115S probably damaging Het
Map3k13 T C 16: 21,921,764 S614P probably benign Het
Me2 A T 18: 73,791,177 N321K probably benign Het
Med16 A T 10: 79,907,625 M1K probably null Het
Mycbp2 A G 14: 103,172,642 F2651L probably damaging Het
Prrc2b C T 2: 32,213,810 T1100I probably benign Het
Scn9a T A 2: 66,484,301 Q1680L probably damaging Het
Sh3rf2 A G 18: 42,111,218 T250A probably benign Het
Tpp2 T C 1: 43,983,291 F950L possibly damaging Het
Vmn2r-ps159 C A 4: 156,334,196 noncoding transcript Het
Other mutations in Tmem173
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0226:Tmem173 UTSW 18 35739088 missense probably benign
R0388:Tmem173 UTSW 18 35735111 unclassified probably null
R0924:Tmem173 UTSW 18 35735101 critical splice donor site probably null
R2102:Tmem173 UTSW 18 35735237 missense probably damaging 1.00
R4159:Tmem173 UTSW 18 35739219 missense probably damaging 1.00
R4604:Tmem173 UTSW 18 35738690 missense probably damaging 0.97
R6209:Tmem173 UTSW 18 35736102 missense probably damaging 1.00
R6866:Tmem173 UTSW 18 35739429 missense probably damaging 0.97
R7008:Tmem173 UTSW 18 35735171 missense probably damaging 1.00
R7083:Tmem173 UTSW 18 35734650 missense probably damaging 1.00
R7492:Tmem173 UTSW 18 35738713 missense probably damaging 1.00
R7726:Tmem173 UTSW 18 35735265 missense probably damaging 1.00
R7899:Tmem173 UTSW 18 35734573 missense probably damaging 1.00
R7982:Tmem173 UTSW 18 35734573 missense probably damaging 1.00
Posted On2013-04-17