Incidental Mutation 'R4520:Tlr8'
ID 334201
Institutional Source Beutler Lab
Gene Symbol Tlr8
Ensembl Gene ENSMUSG00000040522
Gene Name toll-like receptor 8
Synonyms
MMRRC Submission 041763-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4520 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 166025692-166047325 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 166026171 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 893 (R893H)
Ref Sequence ENSEMBL: ENSMUSP00000107793 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049023] [ENSMUST00000112170] [ENSMUST00000133722]
AlphaFold P58682
Predicted Effect probably damaging
Transcript: ENSMUST00000049023
AA Change: R893H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036762
Gene: ENSMUSG00000040522
AA Change: R893H

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
LRR 66 85 2.76e2 SMART
LRR_TYP 120 143 3.11e-2 SMART
LRR 195 218 6.57e-1 SMART
LRR 281 304 3.78e-1 SMART
LRR 305 329 5.88e0 SMART
low complexity region 359 370 N/A INTRINSIC
LRR 388 411 2.03e1 SMART
LRR 412 435 7.38e1 SMART
LRR 520 543 3.27e1 SMART
LRR 574 597 1.73e0 SMART
LRR_TYP 629 652 2.79e-4 SMART
LRR 678 701 8.97e0 SMART
LRR 703 725 1.49e1 SMART
LRR 727 749 1.67e2 SMART
LRRCT 763 814 2.68e-2 SMART
transmembrane domain 821 843 N/A INTRINSIC
Pfam:TIR_2 873 987 3.6e-9 PFAM
Pfam:TIR 873 1011 3.5e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112170
AA Change: R893H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107793
Gene: ENSMUSG00000040522
AA Change: R893H

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
LRR 66 85 2.76e2 SMART
LRR_TYP 120 143 3.11e-2 SMART
LRR 195 218 6.57e-1 SMART
LRR 281 304 3.78e-1 SMART
LRR 305 329 5.88e0 SMART
low complexity region 359 370 N/A INTRINSIC
LRR 388 411 2.03e1 SMART
LRR 412 435 7.38e1 SMART
LRR 520 543 3.27e1 SMART
LRR 574 597 1.73e0 SMART
LRR_TYP 629 652 2.79e-4 SMART
LRR 678 701 8.97e0 SMART
LRR 703 725 1.49e1 SMART
LRR 727 749 1.67e2 SMART
LRRCT 763 814 2.68e-2 SMART
transmembrane domain 821 843 N/A INTRINSIC
Pfam:TIR_2 873 987 3.6e-9 PFAM
Pfam:TIR 873 1011 3.5e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133722
SMART Domains Protein: ENSMUSP00000122089
Gene: ENSMUSG00000040522

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:LRR_8 60 98 8.1e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148370
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is predominantly expressed in lung and peripheral blood leukocytes, and lies in close proximity to another family member, TLR7, on chromosome X. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased anti-nuclear antigen antibodies, altered immunoglobulin levels, decreased marginal zone, B-1a, and B-1b cells, splenomegaly, and glomerulonephritis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,776,027 (GRCm39) T1739A probably damaging Het
Ascc3 A G 10: 50,536,766 (GRCm39) N700D probably benign Het
Ccdc88c G T 12: 100,879,591 (GRCm39) S1843R possibly damaging Het
Cel C T 2: 28,447,980 (GRCm39) V349M probably benign Het
Cspp1 A G 1: 10,204,452 (GRCm39) T1127A probably benign Het
Cyp2b10 T C 7: 25,610,982 (GRCm39) V113A probably benign Het
Cyp2c50 A G 19: 40,079,133 (GRCm39) T159A probably benign Het
Degs1 T C 1: 182,104,373 (GRCm39) D304G possibly damaging Het
Esr2 G A 12: 76,214,323 (GRCm39) P43S possibly damaging Het
Fbxo41 A G 6: 85,461,024 (GRCm39) I228T probably damaging Het
Gm5444 A G 13: 4,884,225 (GRCm39) noncoding transcript Het
Golga3 T A 5: 110,351,617 (GRCm39) L790* probably null Het
Gtpbp6 T C 5: 110,255,725 (GRCm39) T105A probably benign Het
Ido2 T C 8: 25,066,194 (GRCm39) E24G probably damaging Het
Ihh T A 1: 74,990,109 (GRCm39) I89F probably damaging Het
Krt13 A G 11: 100,010,174 (GRCm39) M269T probably damaging Het
Marf1 T C 16: 13,950,530 (GRCm39) H952R probably damaging Het
Mga T A 2: 119,778,579 (GRCm39) F2041L possibly damaging Het
Msmo1 A C 8: 65,173,557 (GRCm39) probably benign Het
Mterf1a A G 5: 3,940,992 (GRCm39) V292A probably damaging Het
Naxe A G 3: 87,965,289 (GRCm39) probably null Het
Ntng1 A G 3: 109,842,312 (GRCm39) S154P probably damaging Het
Or51h5 A T 7: 102,577,764 (GRCm39) I310F probably benign Het
Or56b1 T A 7: 104,285,376 (GRCm39) V165E probably damaging Het
Or8h7 T C 2: 86,721,363 (GRCm39) D52G probably benign Het
Otog T A 7: 45,890,477 (GRCm39) probably benign Het
Pigo A T 4: 43,020,301 (GRCm39) H880Q probably benign Het
Plce1 T C 19: 38,512,763 (GRCm39) S21P possibly damaging Het
Pole T A 5: 110,445,790 (GRCm39) D555E probably damaging Het
Prkag2 A G 5: 25,071,169 (GRCm39) V403A probably damaging Het
Psg28 T A 7: 18,156,826 (GRCm39) M470L probably benign Het
Rpgrip1 A G 14: 52,389,746 (GRCm39) T1138A probably benign Het
Rpl10l T C 12: 66,330,512 (GRCm39) D207G probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Serpinb9c T C 13: 33,335,840 (GRCm39) probably null Het
Sh2d6 T C 6: 72,495,936 (GRCm39) N101D possibly damaging Het
Shisa8 C G 15: 82,096,163 (GRCm39) V151L possibly damaging Het
Slc13a1 T C 6: 24,134,512 (GRCm39) T124A probably benign Het
Slc6a3 G A 13: 73,688,975 (GRCm39) V100M possibly damaging Het
Sspn A G 6: 145,907,033 (GRCm39) T79A probably benign Het
Tnrc18 T C 5: 142,717,905 (GRCm39) K2183R unknown Het
Trim15 T C 17: 37,177,242 (GRCm39) I139M probably benign Het
Trmt13 A T 3: 116,375,262 (GRCm39) probably null Het
Vmn2r84 T A 10: 130,222,391 (GRCm39) T610S probably damaging Het
Zcchc14 A T 8: 122,335,834 (GRCm39) probably benign Het
Other mutations in Tlr8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02480:Tlr8 APN X 166,027,179 (GRCm39) missense probably damaging 1.00
IGL02539:Tlr8 APN X 166,027,152 (GRCm39) missense possibly damaging 0.94
R4354:Tlr8 UTSW X 166,025,868 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGCTGTTTTAAAGTTCCAGCTC -3'
(R):5'- ATCGGATACCACTGCAGCTG -3'

Sequencing Primer
(F):5'- CAGCTCTTGGCATATTTCTTGG -3'
(R):5'- GATACCACTGCAGCTGTCCTG -3'
Posted On 2015-08-18