Incidental Mutation 'IGL01899:Tlr1'
ID 179470
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tlr1
Ensembl Gene ENSMUSG00000044827
Gene Name toll-like receptor 1
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01899
Quality Score
Status
Chromosome 5
Chromosomal Location 65082022-65090906 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 65084359 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 73 (K73E)
Ref Sequence ENSEMBL: ENSMUSP00000142500 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059349] [ENSMUST00000197315]
AlphaFold Q9EPQ1
Predicted Effect probably damaging
Transcript: ENSMUST00000059349
AA Change: K73E

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000060793
Gene: ENSMUSG00000044827
AA Change: K73E

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
LRR 71 94 5.72e0 SMART
LRR 116 140 3.27e2 SMART
low complexity region 240 256 N/A INTRINSIC
LRR 374 397 9.75e0 SMART
LRR 400 423 4.98e1 SMART
low complexity region 427 438 N/A INTRINSIC
LRR 448 469 6.23e1 SMART
LRR 470 494 4.57e0 SMART
LRRCT 527 581 2.5e-11 SMART
transmembrane domain 583 605 N/A INTRINSIC
TIR 639 782 4.03e-41 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000197315
AA Change: K73E

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000142500
Gene: ENSMUSG00000044827
AA Change: K73E

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
LRR 71 94 5.72e0 SMART
Pfam:LRR_1 97 114 2.3e-2 PFAM
LRR 116 140 3.27e2 SMART
low complexity region 240 256 N/A INTRINSIC
LRR 374 397 9.75e0 SMART
LRR 400 423 4.98e1 SMART
low complexity region 427 438 N/A INTRINSIC
LRR 448 469 6.23e1 SMART
LRR 470 494 4.57e0 SMART
LRRCT 527 581 2.5e-11 SMART
transmembrane domain 583 605 N/A INTRINSIC
TIR 639 782 4.03e-41 SMART
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 ubiquitously expressed, and at higher levels than other TLR genes. Different length transcripts presumably resulting from use of alternative polyadenylation site, and/or from alternative splicing, have been noted for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display decreased macrophage peptoglycan-stimulated IL-6 production. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bicral G A 17: 47,135,600 (GRCm39) P537S probably benign Het
Cadm1 A G 9: 47,721,389 (GRCm39) T260A probably damaging Het
Ddr2 C A 1: 169,811,991 (GRCm39) G744C probably damaging Het
Epha6 A C 16: 59,659,666 (GRCm39) N817K probably benign Het
Far2 A G 6: 148,047,527 (GRCm39) K69E probably benign Het
Fasn G A 11: 120,710,975 (GRCm39) probably benign Het
Ficd A G 5: 113,875,158 (GRCm39) T76A probably benign Het
Flot1 A T 17: 36,141,573 (GRCm39) I327L probably benign Het
Fscn3 A T 6: 28,436,078 (GRCm39) E458V probably damaging Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Lepr A G 4: 101,637,184 (GRCm39) E691G possibly damaging Het
Ly9 T A 1: 171,434,815 (GRCm39) Q26L probably damaging Het
Or5p60 T C 7: 107,724,048 (GRCm39) T141A probably benign Het
Pisd C A 5: 32,896,476 (GRCm39) probably null Het
Plxna2 C T 1: 194,433,796 (GRCm39) S615L probably damaging Het
Ppfia2 T C 10: 106,751,612 (GRCm39) probably null Het
Ppox A G 1: 171,104,655 (GRCm39) V470A probably benign Het
Rptor T A 11: 119,748,279 (GRCm39) S4T probably benign Het
Sf3a1 T A 11: 4,121,063 (GRCm39) I218N probably damaging Het
Stxbp5l T C 16: 37,020,954 (GRCm39) S647G probably benign Het
Sytl1 C T 4: 132,986,167 (GRCm39) probably null Het
Tbx6 C T 7: 126,383,704 (GRCm39) probably benign Het
Thg1l C A 11: 45,845,018 (GRCm39) R78L probably damaging Het
Trpm1 T A 7: 63,884,742 (GRCm39) F808I probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Other mutations in Tlr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00571:Tlr1 APN 5 65,083,777 (GRCm39) missense probably benign 0.01
IGL01324:Tlr1 APN 5 65,082,522 (GRCm39) missense probably damaging 1.00
IGL01564:Tlr1 APN 5 65,083,189 (GRCm39) missense probably damaging 1.00
IGL01663:Tlr1 APN 5 65,082,416 (GRCm39) missense possibly damaging 0.48
IGL01689:Tlr1 APN 5 65,083,122 (GRCm39) missense probably damaging 0.97
IGL01749:Tlr1 APN 5 65,083,290 (GRCm39) nonsense probably null
IGL01751:Tlr1 APN 5 65,083,290 (GRCm39) nonsense probably null
IGL01769:Tlr1 APN 5 65,083,290 (GRCm39) nonsense probably null
IGL02197:Tlr1 APN 5 65,083,797 (GRCm39) missense probably damaging 1.00
IGL02295:Tlr1 APN 5 65,083,290 (GRCm39) nonsense probably null
IGL02308:Tlr1 APN 5 65,083,290 (GRCm39) nonsense probably null
IGL02309:Tlr1 APN 5 65,083,290 (GRCm39) nonsense probably null
IGL02311:Tlr1 APN 5 65,083,290 (GRCm39) nonsense probably null
IGL02591:Tlr1 APN 5 65,084,059 (GRCm39) missense probably damaging 1.00
IGL02739:Tlr1 APN 5 65,084,469 (GRCm39) missense probably benign 0.41
IGL03206:Tlr1 APN 5 65,082,400 (GRCm39) missense probably damaging 0.99
IGL03055:Tlr1 UTSW 5 65,083,939 (GRCm39) missense probably benign 0.05
R0315:Tlr1 UTSW 5 65,084,271 (GRCm39) missense probably damaging 0.99
R0317:Tlr1 UTSW 5 65,083,310 (GRCm39) nonsense probably null
R0511:Tlr1 UTSW 5 65,083,963 (GRCm39) missense probably damaging 0.98
R1539:Tlr1 UTSW 5 65,084,319 (GRCm39) missense probably damaging 1.00
R1552:Tlr1 UTSW 5 65,084,203 (GRCm39) missense probably damaging 1.00
R1835:Tlr1 UTSW 5 65,083,043 (GRCm39) missense probably benign 0.01
R1933:Tlr1 UTSW 5 65,082,781 (GRCm39) missense possibly damaging 0.94
R1956:Tlr1 UTSW 5 65,082,520 (GRCm39) missense probably damaging 1.00
R2099:Tlr1 UTSW 5 65,082,411 (GRCm39) missense probably damaging 1.00
R2507:Tlr1 UTSW 5 65,082,639 (GRCm39) missense probably damaging 1.00
R2508:Tlr1 UTSW 5 65,082,639 (GRCm39) missense probably damaging 1.00
R2937:Tlr1 UTSW 5 65,083,251 (GRCm39) missense probably damaging 0.96
R2938:Tlr1 UTSW 5 65,083,251 (GRCm39) missense probably damaging 0.96
R3033:Tlr1 UTSW 5 65,082,912 (GRCm39) missense probably damaging 1.00
R4164:Tlr1 UTSW 5 65,084,545 (GRCm39) missense possibly damaging 0.47
R4226:Tlr1 UTSW 5 65,083,060 (GRCm39) missense probably damaging 0.96
R4366:Tlr1 UTSW 5 65,083,180 (GRCm39) missense probably benign 0.00
R5009:Tlr1 UTSW 5 65,083,567 (GRCm39) missense probably damaging 1.00
R5029:Tlr1 UTSW 5 65,083,024 (GRCm39) missense probably damaging 0.97
R5069:Tlr1 UTSW 5 65,083,743 (GRCm39) missense probably benign 0.01
R5186:Tlr1 UTSW 5 65,082,564 (GRCm39) missense probably damaging 1.00
R5336:Tlr1 UTSW 5 65,083,145 (GRCm39) missense probably damaging 1.00
R5500:Tlr1 UTSW 5 65,084,441 (GRCm39) missense probably benign 0.08
R5503:Tlr1 UTSW 5 65,083,635 (GRCm39) missense probably damaging 0.99
R5577:Tlr1 UTSW 5 65,083,428 (GRCm39) missense possibly damaging 0.94
R6141:Tlr1 UTSW 5 65,082,556 (GRCm39) missense possibly damaging 0.92
R6210:Tlr1 UTSW 5 65,082,629 (GRCm39) missense probably damaging 1.00
R6238:Tlr1 UTSW 5 65,084,472 (GRCm39) missense possibly damaging 0.86
R6284:Tlr1 UTSW 5 65,084,442 (GRCm39) missense possibly damaging 0.93
R6311:Tlr1 UTSW 5 65,084,188 (GRCm39) missense probably damaging 0.99
R7021:Tlr1 UTSW 5 65,083,056 (GRCm39) missense possibly damaging 0.75
R7140:Tlr1 UTSW 5 65,083,021 (GRCm39) missense probably benign 0.01
R7234:Tlr1 UTSW 5 65,084,067 (GRCm39) missense probably damaging 0.96
R7278:Tlr1 UTSW 5 65,084,115 (GRCm39) missense probably benign 0.03
R7378:Tlr1 UTSW 5 65,082,571 (GRCm39) missense not run
R7652:Tlr1 UTSW 5 65,084,130 (GRCm39) nonsense probably null
R7781:Tlr1 UTSW 5 65,084,079 (GRCm39) missense possibly damaging 0.94
R7783:Tlr1 UTSW 5 65,082,264 (GRCm39) missense probably damaging 1.00
R7851:Tlr1 UTSW 5 65,082,307 (GRCm39) missense possibly damaging 0.58
R8546:Tlr1 UTSW 5 65,084,374 (GRCm39) missense probably damaging 0.99
R8696:Tlr1 UTSW 5 65,084,094 (GRCm39) missense probably benign 0.00
R8744:Tlr1 UTSW 5 65,083,873 (GRCm39) missense possibly damaging 0.77
R9086:Tlr1 UTSW 5 65,083,198 (GRCm39) missense probably damaging 1.00
R9160:Tlr1 UTSW 5 65,083,653 (GRCm39) missense probably benign 0.00
R9199:Tlr1 UTSW 5 65,083,534 (GRCm39) missense possibly damaging 0.87
R9778:Tlr1 UTSW 5 65,083,371 (GRCm39) missense probably damaging 1.00
X0067:Tlr1 UTSW 5 65,083,918 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07