Incidental Mutation 'IGL02480:Tlr8'
ID 295161
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 # IGL02480
Quality Score
Status
Chromosome X
Chromosomal Location 166025692-166047325 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 166027179 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 557 (H557L)
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: H557L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036762
Gene: ENSMUSG00000040522
AA Change: H557L

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: H557L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107793
Gene: ENSMUSG00000040522
AA Change: H557L

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac T A 3: 59,946,908 (GRCm39) I202K probably benign Het
Abcc1 T A 16: 14,221,869 (GRCm39) S169T possibly damaging Het
Acsm1 A T 7: 119,255,265 (GRCm39) I389F possibly damaging Het
Actn2 T A 13: 12,291,364 (GRCm39) Q680L probably benign Het
Ankrd13d G A 19: 4,321,491 (GRCm39) P404S possibly damaging Het
Ankrd46 G T 15: 36,484,142 (GRCm39) probably benign Het
Arfip1 A G 3: 84,455,239 (GRCm39) probably null Het
Asb15 A T 6: 24,570,745 (GRCm39) L574F probably damaging Het
Cym T C 3: 107,120,838 (GRCm39) I256V probably benign Het
Cyp3a44 C T 5: 145,731,715 (GRCm39) E144K possibly damaging Het
Efna1 T C 3: 89,179,902 (GRCm39) E109G probably benign Het
Eif4a3l1 A T 6: 136,306,213 (GRCm39) I225F probably damaging Het
Eml1 C A 12: 108,487,955 (GRCm39) Q556K probably benign Het
Eml5 T G 12: 98,842,502 (GRCm39) T199P probably damaging Het
Entr1 T A 2: 26,275,132 (GRCm39) H342L probably damaging Het
Etl4 A C 2: 20,793,335 (GRCm39) M687L probably damaging Het
Fam199x C A X: 135,950,788 (GRCm39) T56K probably damaging Het
Fat4 A G 3: 39,064,579 (GRCm39) D4845G probably damaging Het
Gm4987 T A X: 45,544,973 (GRCm39) noncoding transcript Het
Gm5828 C A 1: 16,839,766 (GRCm39) noncoding transcript Het
Gm5930 T C 14: 44,575,087 (GRCm39) Y68C probably benign Het
Gucy1a1 C T 3: 82,005,040 (GRCm39) V582M probably damaging Het
Haghl G T 17: 26,002,033 (GRCm39) A220E probably damaging Het
Hsf5 G A 11: 87,522,483 (GRCm39) A359T possibly damaging Het
Igsf9 C A 1: 172,324,480 (GRCm39) D799E possibly damaging Het
Igsf9 A T 1: 172,312,345 (GRCm39) probably benign Het
Itga1 A T 13: 115,124,184 (GRCm39) F703I probably damaging Het
Kcna6 G A 6: 126,715,531 (GRCm39) P453S probably damaging Het
Lzic A T 4: 149,571,260 (GRCm39) N15I probably damaging Het
Or1j10 T G 2: 36,267,504 (GRCm39) C239G probably damaging Het
Or2n1d A G 17: 38,646,314 (GRCm39) R89G probably benign Het
Or4f54 A G 2: 111,122,858 (GRCm39) I82V possibly damaging Het
Or5p78 C T 7: 108,212,018 (GRCm39) T168I probably benign Het
P4ha1 T C 10: 59,179,574 (GRCm39) Y141H probably damaging Het
Paxx G A 2: 25,350,024 (GRCm39) P164S probably damaging Het
Pgd A G 4: 149,241,075 (GRCm39) V278A probably damaging Het
Pik3c2g A G 6: 139,798,526 (GRCm39) Y352C probably damaging Het
Pkd2l2 A G 18: 34,571,843 (GRCm39) N614S possibly damaging Het
Poli T C 18: 70,658,477 (GRCm39) T86A probably benign Het
Psd2 G A 18: 36,139,136 (GRCm39) R528H probably damaging Het
Ptchd4 G T 17: 42,813,431 (GRCm39) C444F probably benign Het
Ptpra C A 2: 130,346,181 (GRCm39) T114K probably benign Het
Rho A G 6: 115,912,505 (GRCm39) N123S probably benign Het
Setd5 A G 6: 113,120,770 (GRCm39) D993G probably damaging Het
Slc1a2 T C 2: 102,566,411 (GRCm39) L38P probably damaging Het
Slc2a7 G A 4: 150,244,569 (GRCm39) V346M possibly damaging Het
Slc43a1 A G 2: 84,669,928 (GRCm39) I7V probably benign Het
Spag9 C T 11: 93,999,413 (GRCm39) Q691* probably null Het
Timmdc1 A T 16: 38,342,763 (GRCm39) V45D probably null Het
Other mutations in Tlr8
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R4520:Tlr8 UTSW X 166,026,171 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16