Incidental Mutation 'IGL02539:Tlr8'
ID 297647
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tlr8
Ensembl Gene ENSMUSG00000040522
Gene Name toll-like receptor 8
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02539
Quality Score
Status
Chromosome X
Chromosomal Location 166025692-166047325 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 166027152 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 566 (H566L)
Ref Sequence ENSEMBL: ENSMUSP00000107793 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049023] [ENSMUST00000112170] [ENSMUST00000133722]
AlphaFold P58682
Predicted Effect possibly damaging
Transcript: ENSMUST00000049023
AA Change: H566L

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000036762
Gene: ENSMUSG00000040522
AA Change: H566L

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 possibly damaging
Transcript: ENSMUST00000112170
AA Change: H566L

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000107793
Gene: ENSMUSG00000040522
AA Change: H566L

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
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 A T 8: 25,276,229 (GRCm39) Y479* probably null Het
Btnl6 T C 17: 34,727,288 (GRCm39) N414S probably benign Het
Ccdc180 A G 4: 45,921,005 (GRCm39) N984D probably damaging Het
Cfc1 A T 1: 34,576,203 (GRCm39) probably benign Het
Chrm1 G A 19: 8,655,675 (GRCm39) V127M probably damaging Het
Dicer1 A G 12: 104,663,294 (GRCm39) L1429P probably damaging Het
Erbb3 A G 10: 128,420,174 (GRCm39) probably null Het
Evi5 T C 5: 107,963,531 (GRCm39) E348G probably benign Het
Fat2 G A 11: 55,172,619 (GRCm39) T2698I probably damaging Het
Gas2 A G 7: 51,547,038 (GRCm39) D63G possibly damaging Het
Gm28042 A G 2: 119,865,702 (GRCm39) D313G probably damaging Het
Hivep2 T A 10: 14,007,622 (GRCm39) S1407T probably damaging Het
Ibsp T A 5: 104,450,149 (GRCm39) M19K probably damaging Het
Itih3 C T 14: 30,634,621 (GRCm39) D129N probably benign Het
Krtap4-8 A T 11: 99,671,196 (GRCm39) probably benign Het
Mertk A G 2: 128,643,210 (GRCm39) T870A probably damaging Het
Mtmr11 C A 3: 96,072,308 (GRCm39) probably benign Het
Nbas C A 12: 13,322,704 (GRCm39) probably benign Het
Nlrp4b A G 7: 10,448,355 (GRCm39) D186G probably damaging Het
Olfm3 A G 3: 114,895,579 (GRCm39) I154V possibly damaging Het
Or10a5 T A 7: 106,635,641 (GRCm39) I93N probably damaging Het
Pdk2 T C 11: 94,923,321 (GRCm39) K101R probably benign Het
Pds5a C T 5: 65,823,462 (GRCm39) D110N probably damaging Het
Pex5 A T 6: 124,380,183 (GRCm39) D288E probably benign Het
Pitrm1 A G 13: 6,618,792 (GRCm39) D655G probably benign Het
Plcz1 T C 6: 139,938,690 (GRCm39) N554S probably benign Het
Plin4 T C 17: 56,413,680 (GRCm39) Q315R probably damaging Het
Plpp5 A G 8: 26,214,215 (GRCm39) H244R probably benign Het
Ppp1r3a C T 6: 14,718,458 (GRCm39) V819I probably benign Het
Rap1b T A 10: 117,658,709 (GRCm39) R41S possibly damaging Het
Rc3h2 T A 2: 37,279,727 (GRCm39) S501C probably benign Het
Sel1l2 G T 2: 140,072,778 (GRCm39) A619D probably damaging Het
Ska3 T C 14: 58,057,968 (GRCm39) D128G possibly damaging Het
Specc1l A T 10: 75,103,342 (GRCm39) I889L probably benign Het
Ssxb5 T A X: 8,675,087 (GRCm39) N130K probably damaging Het
Tanc1 G T 2: 59,663,602 (GRCm39) G1120C probably damaging Het
Tet1 T C 10: 62,648,798 (GRCm39) Q267R possibly damaging Het
Tmem132d T A 5: 127,861,043 (GRCm39) Q1026L probably benign Het
Tmem214 G A 5: 31,030,090 (GRCm39) A296T probably benign Het
Trp53bp2 C A 1: 182,276,256 (GRCm39) P746T probably damaging Het
Uso1 A T 5: 92,335,632 (GRCm39) I547F probably damaging Het
Zfp687 A C 3: 94,918,373 (GRCm39) N466K probably damaging Het
Other mutations in Tlr8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02480:Tlr8 APN X 166,027,179 (GRCm39) missense probably damaging 1.00
R4354:Tlr8 UTSW X 166,025,868 (GRCm39) missense probably damaging 0.99
R4520:Tlr8 UTSW X 166,026,171 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16