Incidental Mutation 'IGL00949:Tlr6'
ID27462
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tlr6
Ensembl Gene ENSMUSG00000051498
Gene Nametoll-like receptor 6
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.130) question?
Stock #IGL00949
Quality Score
Status
Chromosome5
Chromosomal Location64952031-64960097 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 64953512 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 684 (L684P)
Ref Sequence ENSEMBL: ENSMUSP00000062096 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062315] [ENSMUST00000201307]
Predicted Effect probably damaging
Transcript: ENSMUST00000062315
AA Change: L684P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062096
Gene: ENSMUSG00000051498
AA Change: L684P

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 benign
Transcript: ENSMUST00000201307
SMART Domains Protein: ENSMUSP00000143865
Gene: ENSMUSG00000051498

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl4 A G X: 142,343,329 C303R probably damaging Het
Als2 C T 1: 59,215,572 G209S probably damaging Het
Ankrd11 T C 8: 122,908,728 T56A possibly damaging Het
Arnt T A 3: 95,487,268 I381N probably damaging Het
Atp13a1 T C 8: 69,800,003 probably benign Het
Cd180 A T 13: 102,693,760 T21S possibly damaging Het
Cdc27 T C 11: 104,529,403 Y138C probably damaging Het
Dhx16 A G 17: 35,887,934 T753A probably benign Het
Dnah1 A G 14: 31,307,090 M561T probably benign Het
Dsc3 C A 18: 19,985,631 G259C probably null Het
Enox2 A T X: 49,040,607 D346E probably benign Het
Exoc3l T C 8: 105,290,498 E619G probably benign Het
Exosc9 T C 3: 36,563,266 probably benign Het
Gmpr2 C T 14: 55,676,750 probably benign Het
Golga1 T C 2: 39,041,255 E289G probably damaging Het
Hist1h3a G A 13: 23,762,031 T108I probably damaging Het
Jmy A G 13: 93,454,002 V531A probably damaging Het
Lamp2 T C X: 38,435,473 N156S probably benign Het
Lrrn1 C A 6: 107,569,300 N686K probably benign Het
Lyst T C 13: 13,635,485 V580A possibly damaging Het
Ms4a8a C A 19: 11,079,444 L91F probably benign Het
Naip2 A G 13: 100,161,591 F646L probably damaging Het
Npat T C 9: 53,563,362 V818A probably benign Het
Olfr1362 A T 13: 21,611,351 I206N probably damaging Het
Padi3 C A 4: 140,788,943 R542L possibly damaging Het
Pid1 A G 1: 84,038,506 V46A probably damaging Het
Pld5 A T 1: 175,975,473 C409S probably damaging Het
Plet1 A G 9: 50,499,223 T105A possibly damaging Het
Polrmt T C 10: 79,737,597 probably null Het
Pp2d1 T C 17: 53,515,639 N133S probably benign Het
Prpf40b G T 15: 99,306,538 V228L probably benign Het
Ptgfrn A T 3: 101,072,845 M393K probably benign Het
Slc9a1 C T 4: 133,416,451 T416I probably benign Het
Slc9c1 T C 16: 45,593,358 S950P probably benign Het
Slitrk1 A T 14: 108,911,809 V490D probably damaging Het
Th T C 7: 142,897,026 Y131C probably benign Het
Tpm3 A G 3: 90,089,858 E234G probably damaging Het
Tti1 A G 2: 157,982,399 Y1045H probably benign Het
Txnl4b T A 8: 109,569,075 V37D probably benign Het
Ufl1 A T 4: 25,275,822 F194I probably damaging Het
Usp13 G A 3: 32,886,577 E412K possibly damaging Het
Usp46 A T 5: 74,003,242 L251Q possibly damaging Het
Other mutations in Tlr6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00963:Tlr6 APN 5 64954676 missense possibly damaging 0.89
IGL01540:Tlr6 APN 5 64955286 missense probably damaging 0.97
IGL01675:Tlr6 APN 5 64954499 missense probably damaging 1.00
IGL01705:Tlr6 APN 5 64954130 missense probably benign 0.03
IGL02256:Tlr6 APN 5 64954944 missense probably benign 0.00
Counterintuitive UTSW 5 64953595 missense probably damaging 1.00
insouciant UTSW 5 64954583 missense possibly damaging 0.81
m2sd1 UTSW 5 64954194 nonsense
m2sd2 UTSW 5 64954394 nonsense
m2sd3 UTSW 5 64954241 missense probably damaging 0.98
One_off UTSW 5 64953251 missense probably damaging 1.00
R0336:Tlr6 UTSW 5 64953946 missense probably benign 0.02
R0388:Tlr6 UTSW 5 64955205 missense possibly damaging 0.74
R0558:Tlr6 UTSW 5 64954860 nonsense probably null
R0671:Tlr6 UTSW 5 64954592 missense probably benign 0.00
R1171:Tlr6 UTSW 5 64955250 missense probably benign 0.00
R1550:Tlr6 UTSW 5 64953411 missense probably damaging 0.98
R1809:Tlr6 UTSW 5 64953712 nonsense probably null
R1868:Tlr6 UTSW 5 64954829 missense probably benign 0.00
R1876:Tlr6 UTSW 5 64955420 missense probably damaging 1.00
R1893:Tlr6 UTSW 5 64953213 missense probably damaging 1.00
R2006:Tlr6 UTSW 5 64953405 missense probably damaging 1.00
R2055:Tlr6 UTSW 5 64953926 missense probably damaging 1.00
R3087:Tlr6 UTSW 5 64954325 missense probably damaging 1.00
R3406:Tlr6 UTSW 5 64953429 missense probably damaging 1.00
R3711:Tlr6 UTSW 5 64953809 missense possibly damaging 0.75
R3938:Tlr6 UTSW 5 64953595 missense probably damaging 1.00
R3962:Tlr6 UTSW 5 64954985 missense probably benign 0.10
R4152:Tlr6 UTSW 5 64953212 missense probably damaging 1.00
R4274:Tlr6 UTSW 5 64953638 missense probably benign 0.01
R4516:Tlr6 UTSW 5 64954904 missense possibly damaging 0.67
R4518:Tlr6 UTSW 5 64954904 missense possibly damaging 0.67
R4762:Tlr6 UTSW 5 64954396 missense probably benign 0.09
R4959:Tlr6 UTSW 5 64953659 missense possibly damaging 0.81
R5119:Tlr6 UTSW 5 64954301 missense probably benign 0.06
R5248:Tlr6 UTSW 5 64955304 missense probably benign 0.30
R5507:Tlr6 UTSW 5 64953406 missense probably damaging 1.00
R5572:Tlr6 UTSW 5 64955018 missense probably damaging 1.00
R5773:Tlr6 UTSW 5 64954503 missense probably benign 0.00
R6711:Tlr6 UTSW 5 64954492 missense probably damaging 1.00
R7096:Tlr6 UTSW 5 64953776 missense probably benign
R7341:Tlr6 UTSW 5 64953629 missense probably benign 0.32
R7594:Tlr6 UTSW 5 64953251 missense probably damaging 1.00
R7754:Tlr6 UTSW 5 64954350 missense possibly damaging 0.64
R7774:Tlr6 UTSW 5 64953385 missense probably damaging 0.99
Z1177:Tlr6 UTSW 5 64955239 missense probably damaging 0.96
Posted On2013-04-17