Incidental Mutation 'IGL01751:Tlr1'
ID 278825
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 # IGL01751
Quality Score
Status
Chromosome 5
Chromosomal Location 65082022-65090906 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 65083290 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 429 (L429*)
Ref Sequence ENSEMBL: ENSMUSP00000142500 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059349] [ENSMUST00000197315]
AlphaFold Q9EPQ1
Predicted Effect probably null
Transcript: ENSMUST00000059349
AA Change: L429*
SMART Domains Protein: ENSMUSP00000060793
Gene: ENSMUSG00000044827
AA Change: L429*

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 null
Transcript: ENSMUST00000197315
AA Change: L429*
SMART Domains Protein: ENSMUSP00000142500
Gene: ENSMUSG00000044827
AA Change: L429*

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik A G 5: 144,979,981 (GRCm39) probably null Het
Abtb3 C A 10: 85,490,366 (GRCm39) Q1011K probably damaging Het
Aoc1l2 A T 6: 48,907,522 (GRCm39) H174L possibly damaging Het
Auts2 G T 5: 131,501,198 (GRCm39) Q72K probably damaging Het
Ccdc7b A T 8: 129,863,049 (GRCm39) probably benign Het
Frem3 A G 8: 81,342,372 (GRCm39) E1555G probably benign Het
Gm5263 T G 1: 146,296,302 (GRCm39) noncoding transcript Het
Gm5828 A G 1: 16,840,208 (GRCm39) noncoding transcript Het
Gm6605 T C 7: 38,147,630 (GRCm39) noncoding transcript Het
Gvin3 T A 7: 106,201,516 (GRCm39) N576I possibly damaging Het
Hps3 T C 3: 20,065,130 (GRCm39) D638G probably damaging Het
Igdcc4 A T 9: 65,039,014 (GRCm39) N887I probably damaging Het
Itpkc G A 7: 26,912,491 (GRCm39) probably benign Het
Mfge8 A G 7: 78,786,403 (GRCm39) probably null Het
Mrc2 G T 11: 105,216,560 (GRCm39) L116F probably benign Het
Necab1 T C 4: 14,978,171 (GRCm39) D226G probably damaging Het
Neurod2 T C 11: 98,218,201 (GRCm39) E321G possibly damaging Het
Obp2b G T 2: 25,627,760 (GRCm39) V59L possibly damaging Het
Olr1 T C 6: 129,465,811 (GRCm39) N65S possibly damaging Het
Or14c39 A T 7: 86,343,997 (GRCm39) Q111L probably benign Het
Or2n1 G T 17: 38,486,577 (GRCm39) V201L probably benign Het
Or5d43 A T 2: 88,104,977 (GRCm39) C139S possibly damaging Het
Or8b48 C T 9: 38,492,809 (GRCm39) P79S probably damaging Het
Rock1 A G 18: 10,079,113 (GRCm39) probably null Het
Scn3a T A 2: 65,291,596 (GRCm39) M1717L possibly damaging Het
Smg7 T C 1: 152,719,812 (GRCm39) D903G possibly damaging Het
Ttll9 A T 2: 152,825,025 (GRCm39) N68I probably damaging Het
Ttn A G 2: 76,567,943 (GRCm39) V25904A possibly damaging Het
Uaca G A 9: 60,777,139 (GRCm39) V507M probably damaging Het
Vmn1r195 G T 13: 22,463,421 (GRCm39) C297F probably benign Het
Zdhhc2 G A 8: 40,926,042 (GRCm39) A346T probably benign 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
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
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 2015-04-16