Incidental Mutation 'R8424:Tmem173'
ID 653380
Institutional Source Beutler Lab
Gene Symbol Tmem173
Ensembl Gene ENSMUSG00000024349
Gene Name transmembrane protein 173
Synonyms 2610307O08Rik, MPYS, Sting, ERIS
MMRRC Submission
Accession Numbers

Ncbi RefSeq:NM_028261.1; MGI: 1919762

Essential gene? Non essential (E-score: 0.000) question?
Stock # R8424 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 35733678-35740554 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 35739170 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 93 (I93S)
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]
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: ENSMUST00000115728
AA Change: I93S

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000111393
Gene: ENSMUSG00000024349
AA Change: I93S

transmembrane domain 20 37 N/A INTRINSIC
Pfam:TMEM173 44 336 4.7e-125 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd2 C T 7: 79,297,137 P42S probably damaging Het
Acss2 A G 2: 155,574,618 T694A unknown Het
Adar C T 3: 89,735,994 P394L probably damaging Het
Alx4 A G 2: 93,677,469 M370V probably benign Het
Bag6 T A 17: 35,146,854 L1089Q probably damaging Het
Bms1 T C 6: 118,388,760 Y1155C probably benign Het
Cbl G A 9: 44,152,854 T795I possibly damaging Het
Cdc5l C A 17: 45,415,600 A349S probably benign Het
Cdh5 G A 8: 104,129,371 R312H probably benign Het
Cdk5rap1 T C 2: 154,346,012 T465A probably damaging Het
Cep135 C T 5: 76,594,059 T114I possibly damaging Het
Csrp1 T C 1: 135,739,450 V17A probably damaging Het
Cutal T C 2: 34,887,792 S105P probably benign Het
Dgki C A 6: 36,850,915 V1016L probably benign Het
Dnmt1 T C 9: 20,918,540 N746S probably benign Het
Ep400 A T 5: 110,693,278 V1796E unknown Het
Fam83a T A 15: 58,009,650 S292T possibly damaging Het
Hist1h2ab A G 13: 23,751,284 Y51C probably damaging Het
Keap1 C A 9: 21,230,790 R596L probably benign Het
Klhl5 A C 5: 65,162,962 T620P probably benign Het
Lbhd1 T A 19: 8,883,977 D16E possibly damaging Het
Nadk2 T C 15: 9,083,334 V110A possibly damaging Het
Ncbp1 A T 4: 46,144,839 H30L probably benign Het
Olfr203 A T 16: 59,303,409 L85F possibly damaging Het
Plat G T 8: 22,772,232 G91W probably damaging Het
Pmp22 G T 11: 63,133,076 probably benign Het
Rc3h1 C T 1: 160,965,772 L1076F probably damaging Het
Ryr3 T C 2: 112,841,894 I1431V possibly damaging Het
S100a7a T A 3: 90,655,561 H18Q probably damaging Het
Scd2 G T 19: 44,301,304 C246F probably benign Het
Serpina1c T C 12: 103,896,037 T340A possibly damaging Het
Setd5 A G 6: 113,149,683 E1227G probably benign Het
Sh3yl1 G A 12: 30,924,863 R71H probably damaging Het
Spry2 A G 14: 105,893,402 S117P probably damaging Het
Srcap T C 7: 127,542,388 V1780A probably benign Het
Tas2r130 T G 6: 131,630,827 T2P probably benign Het
Tiam2 T A 17: 3,516,041 F1454I probably damaging Het
Tiam2 T C 17: 3,516,042 F1454S probably damaging Het
Tnpo3 A G 6: 29,555,206 S793P probably benign Het
Ttc28 G A 5: 111,233,341 D1240N probably benign Het
Ubap2l A T 3: 90,021,031 D535E probably damaging Het
Ube2h A G 6: 30,260,941 S65P probably damaging Het
Vmn1r203 T C 13: 22,524,834 S262P probably damaging Het
Wfdc8 A G 2: 164,603,158 F179S probably benign Het
Wnk1 T C 6: 119,934,427 T2153A unknown Het
Zfhx3 G T 8: 108,856,753 G1084V probably damaging Het
Zfp273 A G 13: 67,822,352 N40D probably benign Het
Zfp352 C T 4: 90,224,243 P207S possibly damaging Het
Zfp952 T A 17: 33,003,217 F223L probably benign Het
Other mutations in Tmem173
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00977:Tmem173 APN 18 35734567 missense probably damaging 0.99
R0226:Tmem173 UTSW 18 35739088 missense probably benign
R0388:Tmem173 UTSW 18 35735111 splice site 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
R9084:Tmem173 UTSW 18 35736102 missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2020-10-20