Incidental Mutation 'IGL01875:Tlr4'
ID178857
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tlr4
Ensembl Gene ENSMUSG00000039005
Gene Nametoll-like receptor 4
SynonymsRasl2-8, Lps, lipopolysaccharide response
Accession Numbers

MGI: 96824

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01875
Quality Score
Status
Chromosome4
Chromosomal Location66827584-66930284 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 66839489 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 173 (L173Q)
Ref Sequence ENSEMBL: ENSMUSP00000045770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048096]
PDB Structure
Crystal structure of mouse TLR4 and mouse MD-2 complex [X-RAY DIFFRACTION]
Crystal structure of mouse TLR4/MD-2/lipid IVa complex [X-RAY DIFFRACTION]
Crystal structure of mouse TLR4/MD-2/LPS complex [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000048096
AA Change: L173Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045770
Gene: ENSMUSG00000039005
AA Change: L173Q

DomainStartEndE-ValueType
LRR 76 99 7.36e0 SMART
LRR 100 123 1.86e0 SMART
LRR 173 196 8.24e0 SMART
LRR 370 401 4.33e1 SMART
LRR 468 492 2.54e2 SMART
LRR 493 516 1.86e2 SMART
LRR 517 540 1.67e2 SMART
LRR 541 563 1.92e2 SMART
LRRCT 576 626 4.74e-3 SMART
transmembrane domain 636 658 N/A INTRINSIC
TIR 671 816 7.3e-39 SMART
low complexity region 822 833 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143580
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147008
Coding Region Coverage
Validation Efficiency
MGI Phenotype Homozygotes for spontaneous or targeted mutations are hyporesponsive to bacterial lipopolysaccharide and more susceptible to infection by gram negative bacteria.
Allele List at MGI

All alleles(10) : Targeted(2) Spontaneous(6) Chemically induced(2)

Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam11 A G 11: 102,772,856 T287A probably damaging Het
Afm G T 5: 90,548,883 noncoding transcript Het
Ankrd24 A G 10: 81,629,737 K9E unknown Het
Ankrd53 G T 6: 83,763,049 E62* probably null Het
Atg4b A G 1: 93,778,310 S162G probably damaging Het
B530045E10Rik A T 10: 99,422,315 noncoding transcript Het
Ccng1 A G 11: 40,752,356 V88A probably benign Het
Ces1e T A 8: 93,223,896 M86L probably benign Het
Chrne A T 11: 70,618,672 probably null Het
Ctsh T C 9: 90,064,207 S109P probably damaging Het
Eif4g1 A C 16: 20,681,040 I420L probably damaging Het
Ep300 T A 15: 81,640,023 S1351T unknown Het
Fgfr1 A G 8: 25,573,553 M732V possibly damaging Het
Gata5 T G 2: 180,327,345 Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm3633 A T 14: 42,639,277 M18K probably damaging Het
Gucy1b2 A G 14: 62,420,146 L211P probably damaging Het
Hemgn T C 4: 46,396,994 N81D possibly damaging Het
Irs2 A T 8: 11,006,221 M737K probably damaging Het
Itgb7 C A 15: 102,217,995 C502F probably damaging Het
Jakmip1 G T 5: 37,120,980 A534S probably damaging Het
Kidins220 A G 12: 25,057,729 H1757R probably benign Het
Kirrel T A 3: 87,095,730 I119F probably damaging Het
Lrba T C 3: 86,310,047 V527A probably damaging Het
Mitf A G 6: 98,017,895 E409G probably benign Het
Mtrr T G 13: 68,572,609 K289T probably damaging Het
Muc2 A T 7: 141,752,740 I739F probably damaging Het
Ncor2 T C 5: 125,065,870 T612A unknown Het
Olfr1126 T A 2: 87,457,310 N48K probably damaging Het
Olfr54 A T 11: 51,027,375 R124S probably damaging Het
Olfr806 T A 10: 129,738,922 noncoding transcript Het
Olfr901 T A 9: 38,430,298 N5K probably damaging Het
P4ha3 T A 7: 100,300,652 C109S probably damaging Het
Prkd3 T C 17: 78,957,206 E661G possibly damaging Het
Rbm4b G A 19: 4,762,191 M209I probably benign Het
Reln T A 5: 21,904,717 T3132S probably benign Het
Selenbp2 T A 3: 94,698,144 D92E possibly damaging Het
Slfn8 G T 11: 83,004,079 Q634K probably benign Het
Sumo3 A T 10: 77,613,998 I60F probably damaging Het
Tacr1 A G 6: 82,557,016 Y341C probably benign Het
Tshz3 C T 7: 36,769,960 T458M probably damaging Het
Vmn1r91 T A 7: 20,101,934 C259* probably null Het
Vmn2r16 T C 5: 109,330,411 F11L probably benign Het
Vmn2r28 T A 7: 5,481,303 M633L probably benign Het
Vmn2r35 T C 7: 7,816,773 Het
Vwc2l G T 1: 70,729,013 A79S probably benign Het
Zfhx2 G A 14: 55,063,915 S2204F unknown Het
Other mutations in Tlr4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01120:Tlr4 APN 4 66840425 missense probably benign 0.01
IGL01343:Tlr4 APN 4 66833887 unclassified noncoding transcript
IGL01669:Tlr4 APN 4 66841267 missense possibly damaging 0.48
IGL02138:Tlr4 APN 4 66840965 missense probably damaging 0.99
IGL02244:Tlr4 APN 4 66834061 unclassified probably null
IGL02793:Tlr4 APN 4 66839444 missense probably damaging 1.00
IGL03269:Tlr4 APN 4 66840796 missense probably damaging 1.00
IGL03288:Tlr4 APN 4 66839753 missense probably damaging 0.99
bugsy UTSW 4 66839254 nonsense probably null
cruyff UTSW 4 66840326 missense probably damaging 1.00
don_knotts UTSW 4 66841172 missense probably damaging 1.00
Guardiola UTSW 4 66839303 missense probably damaging 1.00
Lops UTSW 4 66833880 splice acceptor site probably null
lps3 UTSW 4 66841097 missense probably damaging 1.00
Lps4 UTSW 4 66841142 missense probably damaging 1.00
milquetoast UTSW 4 66839444 missense probably damaging 1.00
R0449:Tlr4 UTSW 4 66839620 missense probably damaging 0.99
R0481:Tlr4 UTSW 4 66827916 missense probably benign 0.05
R0576:Tlr4 UTSW 4 66839495 missense probably benign 0.00
R0827:Tlr4 UTSW 4 66833880 splice site probably null
R1488:Tlr4 UTSW 4 66839549 missense probably damaging 1.00
R1490:Tlr4 UTSW 4 66839374 missense possibly damaging 0.56
R1522:Tlr4 UTSW 4 66839696 missense possibly damaging 0.80
R1616:Tlr4 UTSW 4 66839480 missense probably damaging 1.00
R1681:Tlr4 UTSW 4 66841105 missense probably damaging 1.00
R1738:Tlr4 UTSW 4 66841076 missense probably benign 0.19
R1888:Tlr4 UTSW 4 66841172 missense probably damaging 1.00
R1888:Tlr4 UTSW 4 66841172 missense probably damaging 1.00
R1929:Tlr4 UTSW 4 66839444 missense probably damaging 1.00
R1982:Tlr4 UTSW 4 66841035 missense probably benign 0.40
R1998:Tlr4 UTSW 4 66840470 missense probably damaging 1.00
R2186:Tlr4 UTSW 4 66839983 missense possibly damaging 0.63
R2305:Tlr4 UTSW 4 66840101 missense probably damaging 1.00
R3011:Tlr4 UTSW 4 66839254 nonsense probably null
R3420:Tlr4 UTSW 4 66839536 missense probably benign 0.37
R3422:Tlr4 UTSW 4 66839536 missense probably benign 0.37
R3818:Tlr4 UTSW 4 66841316 missense probably benign 0.00
R4212:Tlr4 UTSW 4 66840326 missense probably damaging 1.00
R4213:Tlr4 UTSW 4 66840326 missense probably damaging 1.00
R4417:Tlr4 UTSW 4 66839303 missense probably damaging 1.00
R4630:Tlr4 UTSW 4 66839240 missense probably benign 0.44
R4735:Tlr4 UTSW 4 66841198 missense probably damaging 1.00
R5191:Tlr4 UTSW 4 66841379 missense probably damaging 0.96
R5613:Tlr4 UTSW 4 66840885 missense possibly damaging 0.94
R5705:Tlr4 UTSW 4 66833980 missense probably damaging 1.00
R5726:Tlr4 UTSW 4 66840415 missense probably benign
R6021:Tlr4 UTSW 4 66840866 missense probably damaging 1.00
R6159:Tlr4 UTSW 4 66839833 missense possibly damaging 0.92
R6227:Tlr4 UTSW 4 66840595 missense probably benign
X0064:Tlr4 UTSW 4 66840140 missense probably damaging 0.99
Z1088:Tlr4 UTSW 4 66929082 missense probably benign 0.01
Posted OnMay 07, 2014