Incidental Mutation 'IGL02739:Tlr1'
ID 305788
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 # IGL02739
Quality Score
Status
Chromosome 5
Chromosomal Location 65082022-65090906 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 65084469 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 36 (N36S)
Ref Sequence ENSEMBL: ENSMUSP00000142500 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059349] [ENSMUST00000197315]
AlphaFold Q9EPQ1
Predicted Effect probably benign
Transcript: ENSMUST00000059349
AA Change: N36S

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000060793
Gene: ENSMUSG00000044827
AA Change: N36S

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 benign
Transcript: ENSMUST00000197315
AA Change: N36S

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000142500
Gene: ENSMUSG00000044827
AA Change: N36S

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A T 5: 77,026,364 (GRCm39) C887S possibly damaging Het
Adamdec1 C A 14: 68,807,605 (GRCm39) E352* probably null Het
Bglap2 A T 3: 88,285,319 (GRCm39) probably null Het
Bsn A T 9: 107,989,745 (GRCm39) H2002Q probably benign Het
Chtop T A 3: 90,409,557 (GRCm39) Q165L possibly damaging Het
Clcn1 A T 6: 42,263,714 (GRCm39) probably null Het
Ctsr T C 13: 61,309,658 (GRCm39) T184A probably benign Het
Defb36 T C 2: 152,446,439 (GRCm39) L11P unknown Het
Dock8 A G 19: 25,165,852 (GRCm39) E1912G probably damaging Het
Dpp3 A G 19: 4,973,756 (GRCm39) Y106H probably damaging Het
Epas1 A G 17: 87,112,710 (GRCm39) T103A probably damaging Het
Epcam A T 17: 87,947,922 (GRCm39) T131S probably benign Het
Fam169a A G 13: 97,230,563 (GRCm39) probably benign Het
Gh T A 11: 106,192,559 (GRCm39) probably benign Het
Kif20a A T 18: 34,761,996 (GRCm39) K399* probably null Het
Lrp1b A G 2: 41,388,227 (GRCm39) I466T probably damaging Het
Nlk A G 11: 78,465,677 (GRCm39) V409A probably benign Het
Nomo1 A G 7: 45,693,731 (GRCm39) probably null Het
Nr2c1 T A 10: 93,992,834 (GRCm39) M16K probably damaging Het
Nxph2 A T 2: 23,289,912 (GRCm39) Q88L probably benign Het
Or51a39 A G 7: 102,363,521 (GRCm39) I33T possibly damaging Het
Pkdrej T A 15: 85,703,895 (GRCm39) R680S probably benign Het
Pkhd1l1 A T 15: 44,404,346 (GRCm39) N2325I probably benign Het
Pnliprp2 T C 19: 58,748,941 (GRCm39) probably null Het
Ppp1r42 T A 1: 10,039,078 (GRCm39) K347N probably benign Het
Prtg T C 9: 72,758,867 (GRCm39) V407A possibly damaging Het
Psmb8 C A 17: 34,419,728 (GRCm39) S194* probably null Het
Rnf214 T C 9: 45,780,772 (GRCm39) I406V probably benign Het
Rreb1 C T 13: 38,077,797 (GRCm39) S3L probably damaging Het
Sdad1 C T 5: 92,437,931 (GRCm39) A539T probably benign Het
Sema3a A G 5: 13,501,128 (GRCm39) Y57C probably damaging Het
Susd5 A G 9: 113,925,101 (GRCm39) E328G possibly damaging Het
Syngr3 T C 17: 24,905,372 (GRCm39) T175A probably damaging Het
Tcf20 T A 15: 82,740,281 (GRCm39) Q390L probably damaging Het
Tex15 A G 8: 34,071,721 (GRCm39) T2423A possibly damaging Het
Uchl4 C T 9: 64,142,819 (GRCm39) T100M probably damaging Het
Uhrf1 A G 17: 56,612,129 (GRCm39) K11R probably benign Het
Vps13b T A 15: 35,880,046 (GRCm39) D3040E probably damaging Het
Wdr62 A T 7: 29,941,885 (GRCm39) Y640* probably null Het
Zkscan17 T G 11: 59,394,352 (GRCm39) E83A probably damaging 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
IGL01899:Tlr1 APN 5 65,084,359 (GRCm39) missense probably damaging 0.97
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
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 2015-04-16