Incidental Mutation 'IGL02539:Tlr8'
ID297647
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tlr8
Ensembl Gene ENSMUSG00000040522
Gene Nametoll-like receptor 8
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02539
Quality Score
Status
ChromosomeX
Chromosomal Location167242696-167264329 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 167244156 bp
ZygosityHeterozygous
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]
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: 24,786,213 Y479* probably null Het
Btnl6 T C 17: 34,508,314 N414S probably benign Het
Ccdc180 A G 4: 45,921,005 N984D probably damaging Het
Cfc1 A T 1: 34,537,122 probably benign Het
Chrm1 G A 19: 8,678,311 V127M probably damaging Het
Dicer1 A G 12: 104,697,035 L1429P probably damaging Het
Erbb3 A G 10: 128,584,305 probably null Het
Evi5 T C 5: 107,815,665 E348G probably benign Het
Fat2 G A 11: 55,281,793 T2698I probably damaging Het
Gas2 A G 7: 51,897,290 D63G possibly damaging Het
Gm28042 A G 2: 120,035,221 D313G probably damaging Het
Hivep2 T A 10: 14,131,878 S1407T probably damaging Het
Ibsp T A 5: 104,302,283 M19K probably damaging Het
Itih3 C T 14: 30,912,664 D129N probably benign Het
Krtap4-8 A T 11: 99,780,370 probably benign Het
Mertk A G 2: 128,801,290 T870A probably damaging Het
Mtmr11 C A 3: 96,164,991 probably benign Het
Nbas C A 12: 13,272,703 probably benign Het
Nlrp4b A G 7: 10,714,428 D186G probably damaging Het
Olfm3 A G 3: 115,101,930 I154V possibly damaging Het
Olfr713 T A 7: 107,036,434 I93N probably damaging Het
Pdk2 T C 11: 95,032,495 K101R probably benign Het
Pds5a C T 5: 65,666,119 D110N probably damaging Het
Pex5 A T 6: 124,403,224 D288E probably benign Het
Pitrm1 A G 13: 6,568,756 D655G probably benign Het
Plcz1 T C 6: 139,992,964 N554S probably benign Het
Plin4 T C 17: 56,106,680 Q315R probably damaging Het
Plpp5 A G 8: 25,724,188 H244R probably benign Het
Ppp1r3a C T 6: 14,718,459 V819I probably benign Het
Rap1b T A 10: 117,822,804 R41S possibly damaging Het
Rc3h2 T A 2: 37,389,715 S501C probably benign Het
Sel1l2 G T 2: 140,230,858 A619D probably damaging Het
Ska3 T C 14: 57,820,511 D128G possibly damaging Het
Specc1l A T 10: 75,267,508 I889L probably benign Het
Ssxb5 T A X: 8,808,848 N130K probably damaging Het
Tanc1 G T 2: 59,833,258 G1120C probably damaging Het
Tet1 T C 10: 62,813,019 Q267R possibly damaging Het
Tmem132d T A 5: 127,783,979 Q1026L probably benign Het
Tmem214 G A 5: 30,872,746 A296T probably benign Het
Trp53bp2 C A 1: 182,448,691 P746T probably damaging Het
Uso1 A T 5: 92,187,773 I547F probably damaging Het
Zfp687 A C 3: 95,011,062 N466K probably damaging Het
Other mutations in Tlr8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02480:Tlr8 APN X 167244183 missense probably damaging 1.00
R4354:Tlr8 UTSW X 167242872 missense probably damaging 0.99
R4520:Tlr8 UTSW X 167243175 missense probably damaging 1.00
Posted On2015-04-16