Incidental Mutation 'IGL02138:Tlr4'
ID281426
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 #IGL02138
Quality Score
Status
Chromosome4
Chromosomal Location66827584-66930284 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 66840965 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 665 (Y665F)
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: Y665F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000045770
Gene: ENSMUSG00000039005
AA Change: Y665F

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T G 14: 32,662,715 D431A possibly damaging Het
Adgrb1 T C 15: 74,529,782 M209T probably damaging Het
Ano8 T C 8: 71,484,842 H86R probably benign Het
Camk1d G T 2: 5,445,084 Y95* probably null Het
Capza3 A G 6: 140,042,146 D157G probably benign Het
Ccdc36 G A 9: 108,406,621 T208I probably benign Het
Ckmt2 A T 13: 91,861,828 D124E possibly damaging Het
Col14a1 C A 15: 55,420,835 Q835K unknown Het
Copb2 C T 9: 98,587,552 P829S probably benign Het
Dlg5 A G 14: 24,158,351 V929A probably benign Het
Dolk A G 2: 30,285,979 V18A probably benign Het
Ecm2 G T 13: 49,522,828 L340F probably damaging Het
Hacl1 A G 14: 31,630,983 L149P probably benign Het
Higd2a A T 13: 54,590,422 probably null Het
Hspa12a A T 19: 58,828,298 S28R probably benign Het
Igkv5-37 A G 6: 69,963,451 Y70H probably benign Het
Kif11 T C 19: 37,384,609 V92A probably damaging Het
Kif26a T C 12: 112,174,850 S696P probably damaging Het
Kng1 A T 16: 23,067,808 N168Y probably damaging Het
Krt26 C T 11: 99,333,645 R349Q probably benign Het
Lepr A G 4: 101,768,067 D473G probably damaging Het
Lipt1 G A 1: 37,875,786 E308K possibly damaging Het
Luc7l3 A T 11: 94,303,966 F76Y probably benign Het
Mapk1 A G 16: 17,023,452 I163V probably benign Het
Matn3 A G 12: 8,967,638 E430G possibly damaging Het
Med13 A T 11: 86,286,765 S1502T probably damaging Het
Mlf1 A T 3: 67,399,713 H237L probably benign Het
Mss51 A C 14: 20,484,855 Y282* probably null Het
Ncoa3 A G 2: 166,055,262 T658A probably benign Het
Olfr406 A T 11: 74,269,718 M110L probably benign Het
Olfr867 A T 9: 20,054,900 S188T probably benign Het
Phrf1 T A 7: 141,259,283 V956E unknown Het
Ppme1 C T 7: 100,333,932 M335I probably damaging Het
Ror2 C T 13: 53,110,728 S776N probably damaging Het
Sntg2 T A 12: 30,307,231 probably null Het
Spryd3 T C 15: 102,118,919 noncoding transcript Het
Srpx A G X: 10,067,423 probably null Het
St8sia1 G T 6: 142,963,778 noncoding transcript Het
Stab1 A G 14: 31,143,513 noncoding transcript Het
Sycp2 T A 2: 178,401,990 K108* probably null Het
Sycp2 A T 2: 178,358,254 S976R probably benign Het
Tagap1 T C 17: 6,956,086 T404A probably damaging Het
Tg C T 15: 66,717,233 T1640I probably benign Het
Tmc8 T G 11: 117,791,255 S525A probably benign Het
Tor4a A T 2: 25,194,798 D364E probably benign Het
Trim44 T C 2: 102,380,908 I236V probably benign Het
Ube2o A G 11: 116,543,400 noncoding transcript Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Xirp2 A T 2: 67,516,956 R3180S probably benign Het
Zfp335 A G 2: 164,893,804 C1077R probably damaging 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
IGL01875:Tlr4 APN 4 66839489 missense probably damaging 1.00
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 OnApr 16, 2015