Incidental Mutation 'IGL01540:Tlr6'
ID 90121
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tlr6
Ensembl Gene ENSMUSG00000051498
Gene Name toll-like receptor 6
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.154) question?
Stock # IGL01540
Quality Score
Status
Chromosome 5
Chromosomal Location 65109374-65117440 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 65112629 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 93 (R93G)
Ref Sequence ENSEMBL: ENSMUSP00000143865 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062315] [ENSMUST00000201307]
AlphaFold Q9EPW9
Predicted Effect possibly damaging
Transcript: ENSMUST00000062315
AA Change: R93G

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000062096
Gene: ENSMUSG00000051498
AA Change: R93G

DomainStartEndE-ValueType
LRR_TYP 86 109 7.67e-2 SMART
LRR 131 155 2.76e1 SMART
LRR 461 482 6.23e1 SMART
LRR 483 507 4.57e0 SMART
LRRCT 540 594 4.06e-11 SMART
transmembrane domain 596 618 N/A INTRINSIC
TIR 652 795 5.37e-37 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000201307
AA Change: R93G

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143865
Gene: ENSMUSG00000051498
AA Change: R93G

DomainStartEndE-ValueType
transmembrane domain 20 39 N/A INTRINSIC
LRR_TYP 86 109 3.3e-4 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 receptor functionally interacts with toll-like receptor 2 to mediate cellular response to bacterial lipoproteins. A Ser249Pro polymorphism in the extracellular domain of the encoded protein may be associated with an increased of asthma is some populations.[provided by RefSeq, Jan 2011]
PHENOTYPE: Inactivation of this gene results in abnormal macrophage function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 A G 1: 25,151,252 (GRCm39) probably null Het
Ceacam12 T C 7: 17,805,727 (GRCm39) probably benign Het
Cyp2j13 A T 4: 95,956,959 (GRCm39) probably benign Het
Golim4 T G 3: 75,794,047 (GRCm39) E538A possibly damaging Het
Gstcd A T 3: 132,692,175 (GRCm39) V580D probably damaging Het
Hspg2 A G 4: 137,247,017 (GRCm39) T1115A probably damaging Het
Maea T C 5: 33,515,910 (GRCm39) S18P probably benign Het
Mertk T C 2: 128,625,887 (GRCm39) L674P probably damaging Het
Nol8 A T 13: 49,815,146 (GRCm39) Q400L probably benign Het
Nt5el T C 13: 105,218,761 (GRCm39) S32P possibly damaging Het
Or10a3b G T 7: 108,444,887 (GRCm39) T110N probably damaging Het
Or6b2 A G 1: 92,408,202 (GRCm39) L47P probably damaging Het
Pycard T A 7: 127,592,002 (GRCm39) D113V probably benign Het
S100z G A 13: 95,613,861 (GRCm39) T83M probably damaging Het
Sacs A G 14: 61,429,084 (GRCm39) D381G possibly damaging Het
Spata31h1 A T 10: 82,120,016 (GRCm39) H4331Q possibly damaging Het
Tbpl2 T C 2: 23,984,985 (GRCm39) H53R probably benign Het
Trabd A G 15: 88,968,998 (GRCm39) E172G probably benign Het
Vrk3 A G 7: 44,416,568 (GRCm39) H277R probably damaging Het
Zfp512 T C 5: 31,630,840 (GRCm39) V338A probably damaging Het
Other mutations in Tlr6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00949:Tlr6 APN 5 65,110,855 (GRCm39) missense probably damaging 1.00
IGL00963:Tlr6 APN 5 65,112,019 (GRCm39) missense possibly damaging 0.89
IGL01675:Tlr6 APN 5 65,111,842 (GRCm39) missense probably damaging 1.00
IGL01705:Tlr6 APN 5 65,111,473 (GRCm39) missense probably benign 0.03
IGL02256:Tlr6 APN 5 65,112,287 (GRCm39) missense probably benign 0.00
Counterintuitive UTSW 5 65,110,938 (GRCm39) missense probably damaging 1.00
insouciant UTSW 5 65,111,926 (GRCm39) missense possibly damaging 0.81
m2sd1 UTSW 5 65,111,537 (GRCm39) nonsense
m2sd2 UTSW 5 65,111,737 (GRCm39) nonsense
m2sd3 UTSW 5 65,111,584 (GRCm39) missense probably damaging 0.98
One_off UTSW 5 65,110,594 (GRCm39) missense probably damaging 1.00
R0336:Tlr6 UTSW 5 65,111,289 (GRCm39) missense probably benign 0.02
R0388:Tlr6 UTSW 5 65,112,548 (GRCm39) missense possibly damaging 0.74
R0558:Tlr6 UTSW 5 65,112,203 (GRCm39) nonsense probably null
R0671:Tlr6 UTSW 5 65,111,935 (GRCm39) missense probably benign 0.00
R1171:Tlr6 UTSW 5 65,112,593 (GRCm39) missense probably benign 0.00
R1550:Tlr6 UTSW 5 65,110,754 (GRCm39) missense probably damaging 0.98
R1809:Tlr6 UTSW 5 65,111,055 (GRCm39) nonsense probably null
R1868:Tlr6 UTSW 5 65,112,172 (GRCm39) missense probably benign 0.00
R1876:Tlr6 UTSW 5 65,112,763 (GRCm39) missense probably damaging 1.00
R1893:Tlr6 UTSW 5 65,110,556 (GRCm39) missense probably damaging 1.00
R2006:Tlr6 UTSW 5 65,110,748 (GRCm39) missense probably damaging 1.00
R2055:Tlr6 UTSW 5 65,111,269 (GRCm39) missense probably damaging 1.00
R3087:Tlr6 UTSW 5 65,111,668 (GRCm39) missense probably damaging 1.00
R3406:Tlr6 UTSW 5 65,110,772 (GRCm39) missense probably damaging 1.00
R3711:Tlr6 UTSW 5 65,111,152 (GRCm39) missense possibly damaging 0.75
R3938:Tlr6 UTSW 5 65,110,938 (GRCm39) missense probably damaging 1.00
R3962:Tlr6 UTSW 5 65,112,328 (GRCm39) missense probably benign 0.10
R4152:Tlr6 UTSW 5 65,110,555 (GRCm39) missense probably damaging 1.00
R4274:Tlr6 UTSW 5 65,110,981 (GRCm39) missense probably benign 0.01
R4516:Tlr6 UTSW 5 65,112,247 (GRCm39) missense possibly damaging 0.67
R4518:Tlr6 UTSW 5 65,112,247 (GRCm39) missense possibly damaging 0.67
R4762:Tlr6 UTSW 5 65,111,739 (GRCm39) missense probably benign 0.09
R4959:Tlr6 UTSW 5 65,111,002 (GRCm39) missense possibly damaging 0.81
R5119:Tlr6 UTSW 5 65,111,644 (GRCm39) missense probably benign 0.06
R5248:Tlr6 UTSW 5 65,112,647 (GRCm39) missense probably benign 0.30
R5507:Tlr6 UTSW 5 65,110,749 (GRCm39) missense probably damaging 1.00
R5572:Tlr6 UTSW 5 65,112,361 (GRCm39) missense probably damaging 1.00
R5773:Tlr6 UTSW 5 65,111,846 (GRCm39) missense probably benign 0.00
R6711:Tlr6 UTSW 5 65,111,835 (GRCm39) missense probably damaging 1.00
R7096:Tlr6 UTSW 5 65,111,119 (GRCm39) missense probably benign
R7341:Tlr6 UTSW 5 65,110,972 (GRCm39) missense probably benign 0.32
R7594:Tlr6 UTSW 5 65,110,594 (GRCm39) missense probably damaging 1.00
R7754:Tlr6 UTSW 5 65,111,693 (GRCm39) missense possibly damaging 0.64
R7774:Tlr6 UTSW 5 65,110,728 (GRCm39) missense probably damaging 0.99
R8292:Tlr6 UTSW 5 65,111,134 (GRCm39) missense probably damaging 1.00
R8348:Tlr6 UTSW 5 65,111,185 (GRCm39) missense probably damaging 1.00
R8376:Tlr6 UTSW 5 65,112,455 (GRCm39) missense probably benign 0.00
R8448:Tlr6 UTSW 5 65,111,185 (GRCm39) missense probably damaging 1.00
R9620:Tlr6 UTSW 5 65,112,146 (GRCm39) missense possibly damaging 0.68
R9654:Tlr6 UTSW 5 65,112,697 (GRCm39) missense probably damaging 1.00
Z1177:Tlr6 UTSW 5 65,112,582 (GRCm39) missense probably damaging 0.96
Posted On 2013-12-03