Incidental Mutation 'R4354:Tlr8'
ID 327468
Institutional Source Beutler Lab
Gene Symbol Tlr8
Ensembl Gene ENSMUSG00000040522
Gene Name toll-like receptor 8
Synonyms
MMRRC Submission 041107-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4354 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 166025692-166047325 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 166025868 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Proline at position 994 (Q994P)
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: Q994P

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000036762
Gene: ENSMUSG00000040522
AA Change: Q994P

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: Q994P

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107793
Gene: ENSMUSG00000040522
AA Change: Q994P

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
Meta Mutation Damage Score 0.4688 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 97% (37/38)
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I06Rik C T 14: 64,210,658 (GRCm39) R190H probably benign Het
Abca8b A C 11: 109,862,518 (GRCm39) S416A probably benign Het
Abcb4 A T 5: 8,968,771 (GRCm39) N370I probably benign Het
Abi3bp T C 16: 56,353,314 (GRCm39) F81S probably benign Het
Ablim1 C T 19: 57,143,710 (GRCm39) C83Y probably damaging Het
Adamtsl1 A T 4: 86,074,921 (GRCm39) H96L probably damaging Het
Alms1-ps1 C T 6: 85,732,617 (GRCm39) noncoding transcript Het
AU040320 A G 4: 126,748,192 (GRCm39) probably benign Het
Chd1 T A 17: 17,610,263 (GRCm39) H472Q probably benign Het
Chgb A T 2: 132,635,864 (GRCm39) D602V probably damaging Het
Fhdc1 C A 3: 84,352,133 (GRCm39) V1031F probably benign Het
Gpa33 A G 1: 165,991,404 (GRCm39) T212A possibly damaging Het
Hspg2 C A 4: 137,196,222 (GRCm39) A17E probably benign Het
Irf7 T C 7: 140,845,183 (GRCm39) R8G probably damaging Het
Kcnv1 G A 15: 44,977,840 (GRCm39) T66M probably damaging Het
Loxhd1 T C 18: 77,483,123 (GRCm39) Y1235H probably damaging Het
Mon2 T C 10: 122,862,888 (GRCm39) T680A probably benign Het
Nab1 A T 1: 52,529,855 (GRCm39) L14Q probably damaging Het
Neu4 C T 1: 93,952,279 (GRCm39) T216I probably damaging Het
Nle1 A G 11: 82,797,257 (GRCm39) C152R possibly damaging Het
Nprl3 T A 11: 32,184,906 (GRCm39) M368L probably benign Het
Nudt9 A G 5: 104,205,977 (GRCm39) K129E probably damaging Het
Or5c1 T C 2: 37,221,888 (GRCm39) L43P probably damaging Het
Pdzd8 T C 19: 59,333,913 (GRCm39) D36G probably benign Het
Pga5 C T 19: 10,652,190 (GRCm39) probably null Het
Pold3 T C 7: 99,749,824 (GRCm39) K47E possibly damaging Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Rab3gap1 A G 1: 127,843,378 (GRCm39) I251V probably benign Het
Susd2 G T 10: 75,475,562 (GRCm39) F447L probably damaging Het
Tbc1d7 T C 13: 43,323,344 (GRCm39) K16E probably damaging Het
Ube2j1 T C 4: 33,049,682 (GRCm39) Y227H 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
R4520:Tlr8 UTSW X 166,026,171 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGCTCATCAATGGGTTCAAAGC -3'
(R):5'- CCAAGAAATATGCCAAGAGCTG -3'

Sequencing Primer
(F):5'- ATAAGAGGCCCAGTCTTGTGC -3'
(R):5'- GAGCTGGAACTTTAAAACAGCTTTC -3'
Posted On 2015-07-07