Incidental Mutation 'R1982:Tlr4'
ID |
219889 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tlr4
|
Ensembl Gene |
ENSMUSG00000039005 |
Gene Name |
toll-like receptor 4 |
Synonyms |
Lps, lipopolysaccharide response, Rasl2-8 |
MMRRC Submission |
039994-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1982 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
66745788-66765338 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 66759272 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 688
(N688K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045770
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048096]
[ENSMUST00000107365]
|
AlphaFold |
Q9QUK6 |
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 benign
Transcript: ENSMUST00000048096
AA Change: N688K
PolyPhen 2
Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000045770 Gene: ENSMUSG00000039005 AA Change: N688K
Domain | Start | End | E-Value | Type |
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 |
probably benign
Transcript: ENSMUST00000107365
|
SMART Domains |
Protein: ENSMUSP00000102988 Gene: ENSMUSG00000039005
Domain | Start | End | E-Value | Type |
PDB:3VQ2|B
|
22 |
86 |
2e-38 |
PDB |
SCOP:d1m0za_
|
27 |
86 |
4e-6 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143580
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147008
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.5%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene belongs to the evolutionarily-conserved Toll-like receptor family, whose members are type-1 transmembrane proteins that are involved in innate immunity. Toll-like receptors are characterized by an extracellular leucine-rich repeat domain that functions in ligand recognition and an intracellular toll/interleukin-1 receptor-like domain that is crucial for signal transduction. The receptor encoded by this gene mediates the innate immune response to bacterial lipopolysaccharide, a major component of the outer membrane of Gram-negative bacteria, through synthesis of pro-inflammatory cytokines and chemokines. In addition, this protein can recognize other pathogens from Gram-negative and Gram-positive bacteria as well as viral components. Mice deficient in this gene display a number of immune response-related phenotypes including hyporesponsiveness to bacterial lipopolysaccharide and increased levels of respiratory syncytial virus compared to controls. [provided by RefSeq, Sep 2015] PHENOTYPE: Homozygotes for spontaneous or targeted mutations are hyporesponsive to bacterial lipopolysaccharide and more susceptible to infection by gram negative bacteria. [provided by MGI curators]
|
Allele List at MGI |
All alleles(10) : Targeted(2) Spontaneous(6) Chemically induced(2)
|
Other mutations in this stock |
Total: 89 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
G |
T |
11: 119,904,340 (GRCm39) |
P252Q |
probably damaging |
Het |
Adamts4 |
T |
C |
1: 171,086,503 (GRCm39) |
V765A |
probably benign |
Het |
Agfg2 |
A |
T |
5: 137,662,515 (GRCm39) |
V184E |
possibly damaging |
Het |
Alas1 |
A |
T |
9: 106,115,384 (GRCm39) |
I48N |
probably damaging |
Het |
Anks1 |
T |
C |
17: 28,204,095 (GRCm39) |
V181A |
probably damaging |
Het |
Anxa8 |
A |
T |
14: 33,818,527 (GRCm39) |
R261S |
probably damaging |
Het |
Aqp4 |
T |
C |
18: 15,526,608 (GRCm39) |
D291G |
probably damaging |
Het |
Atrn |
A |
G |
2: 130,812,142 (GRCm39) |
R696G |
probably benign |
Het |
Barx2 |
A |
C |
9: 31,824,308 (GRCm39) |
I27S |
probably damaging |
Het |
Btnl1 |
A |
T |
17: 34,598,725 (GRCm39) |
I114L |
possibly damaging |
Het |
Casq1 |
C |
T |
1: 172,043,097 (GRCm39) |
A200T |
probably damaging |
Het |
Ccdc33 |
T |
A |
9: 58,024,451 (GRCm39) |
E225D |
probably benign |
Het |
Cd84 |
C |
A |
1: 171,712,152 (GRCm39) |
|
probably null |
Het |
Ceacam9 |
T |
G |
7: 16,459,232 (GRCm39) |
L177R |
probably benign |
Het |
Cenpi |
T |
A |
X: 133,218,782 (GRCm39) |
F161L |
possibly damaging |
Het |
Cep63 |
T |
C |
9: 102,480,079 (GRCm39) |
K251E |
probably damaging |
Het |
Cetn3 |
A |
G |
13: 81,932,816 (GRCm39) |
E25G |
probably damaging |
Het |
Crybg3 |
T |
C |
16: 59,364,488 (GRCm39) |
D2378G |
possibly damaging |
Het |
Ddx19b |
T |
C |
8: 111,735,975 (GRCm39) |
T357A |
possibly damaging |
Het |
Dpep2 |
A |
C |
8: 106,716,087 (GRCm39) |
Y266* |
probably null |
Het |
Dqx1 |
G |
A |
6: 83,035,558 (GRCm39) |
D24N |
probably damaging |
Het |
Dsg4 |
A |
T |
18: 20,604,269 (GRCm39) |
Y912F |
probably damaging |
Het |
Fezf2 |
G |
T |
14: 12,344,405 (GRCm38) |
P261T |
probably benign |
Het |
Fmo1 |
T |
C |
1: 162,667,325 (GRCm39) |
I163M |
possibly damaging |
Het |
Garin1a |
A |
G |
6: 29,285,921 (GRCm39) |
T69A |
probably benign |
Het |
Gatad2a |
G |
A |
8: 70,365,782 (GRCm39) |
R428* |
probably null |
Het |
Gfpt1 |
T |
A |
6: 87,031,612 (GRCm39) |
F85I |
possibly damaging |
Het |
Gimap7 |
A |
T |
6: 48,701,175 (GRCm39) |
I254F |
possibly damaging |
Het |
Glcci1 |
T |
C |
6: 8,592,980 (GRCm39) |
S261P |
probably damaging |
Het |
Glis3 |
A |
T |
19: 28,508,674 (GRCm39) |
F437I |
probably damaging |
Het |
Glp1r |
C |
A |
17: 31,144,601 (GRCm39) |
S258* |
probably null |
Het |
Gpt2 |
C |
T |
8: 86,242,832 (GRCm39) |
A288V |
possibly damaging |
Het |
Grin2c |
G |
T |
11: 115,151,731 (GRCm39) |
S76R |
possibly damaging |
Het |
Guf1 |
T |
A |
5: 69,724,569 (GRCm39) |
Y447* |
probably null |
Het |
H2-T9 |
T |
A |
17: 36,439,614 (GRCm39) |
D122V |
probably damaging |
Het |
Hectd1 |
A |
C |
12: 51,832,624 (GRCm39) |
L916V |
probably damaging |
Het |
Hnf4g |
A |
G |
3: 3,703,268 (GRCm39) |
K96E |
probably damaging |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Ifi207 |
T |
G |
1: 173,562,805 (GRCm39) |
M114L |
probably benign |
Het |
Ifi35 |
A |
T |
11: 101,349,112 (GRCm39) |
E252V |
probably damaging |
Het |
Igsf9b |
G |
A |
9: 27,233,535 (GRCm39) |
R345H |
possibly damaging |
Het |
Itih3 |
T |
C |
14: 30,645,540 (GRCm39) |
|
probably benign |
Het |
Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
Kidins220 |
A |
T |
12: 25,101,193 (GRCm39) |
M1252L |
probably benign |
Het |
Kifap3 |
T |
A |
1: 163,689,591 (GRCm39) |
L525* |
probably null |
Het |
Limk2 |
A |
T |
11: 3,305,461 (GRCm39) |
D35E |
probably benign |
Het |
Lrrc37a |
G |
A |
11: 103,389,792 (GRCm39) |
P1878S |
probably benign |
Het |
Mansc4 |
T |
A |
6: 146,977,173 (GRCm39) |
I148F |
probably benign |
Het |
Mei1 |
A |
G |
15: 81,987,513 (GRCm39) |
N859S |
probably benign |
Het |
Mib1 |
A |
G |
18: 10,812,064 (GRCm39) |
D987G |
probably damaging |
Het |
Mroh8 |
A |
G |
2: 157,113,895 (GRCm39) |
V132A |
possibly damaging |
Het |
Npnt |
T |
C |
3: 132,653,893 (GRCm39) |
I29M |
probably benign |
Het |
Nrap |
T |
C |
19: 56,372,537 (GRCm39) |
D138G |
probably damaging |
Het |
Or10a3m |
A |
G |
7: 108,312,902 (GRCm39) |
Y102C |
probably damaging |
Het |
Or1e16 |
A |
T |
11: 73,285,918 (GRCm39) |
I310N |
probably benign |
Het |
Or2h1 |
T |
A |
17: 37,404,700 (GRCm39) |
E22V |
probably damaging |
Het |
Or6z7 |
T |
C |
7: 6,483,931 (GRCm39) |
M75V |
probably benign |
Het |
Osbpl5 |
A |
C |
7: 143,295,408 (GRCm39) |
|
probably null |
Het |
Pcna-ps2 |
T |
C |
19: 9,261,047 (GRCm39) |
V102A |
possibly damaging |
Het |
Pik3c2g |
T |
C |
6: 139,599,546 (GRCm39) |
S221P |
probably damaging |
Het |
Plppr3 |
A |
G |
10: 79,702,259 (GRCm39) |
I271T |
probably damaging |
Het |
Ppp4r3c1 |
A |
T |
X: 88,975,051 (GRCm39) |
V382E |
probably damaging |
Het |
Pramel25 |
C |
A |
4: 143,521,720 (GRCm39) |
H445Q |
probably benign |
Het |
Prkar1b |
C |
T |
5: 139,113,398 (GRCm39) |
A41T |
probably benign |
Het |
Prkcsh |
A |
G |
9: 21,924,164 (GRCm39) |
D458G |
probably damaging |
Het |
Prr14 |
G |
T |
7: 127,074,662 (GRCm39) |
R398L |
possibly damaging |
Het |
Ptafr |
A |
G |
4: 132,307,296 (GRCm39) |
R229G |
probably damaging |
Het |
Rbp3 |
T |
C |
14: 33,676,502 (GRCm39) |
F150S |
probably damaging |
Het |
Rel |
C |
T |
11: 23,692,761 (GRCm39) |
G424D |
probably benign |
Het |
Rlf |
T |
C |
4: 121,007,309 (GRCm39) |
Y557C |
probably damaging |
Het |
Samt3 |
A |
C |
X: 85,090,740 (GRCm39) |
M211L |
probably benign |
Het |
Selenop |
A |
T |
15: 3,305,176 (GRCm39) |
I111F |
probably damaging |
Het |
Slc2a2 |
G |
A |
3: 28,771,590 (GRCm39) |
M173I |
probably benign |
Het |
Slc43a1 |
G |
T |
2: 84,687,233 (GRCm39) |
G361V |
possibly damaging |
Het |
Slit2 |
G |
A |
5: 48,407,178 (GRCm39) |
V870M |
probably damaging |
Het |
Ssxb10 |
A |
G |
X: 8,197,258 (GRCm39) |
D77G |
probably benign |
Het |
Stk32b |
T |
A |
5: 37,806,458 (GRCm39) |
I29F |
probably damaging |
Het |
Stra6l |
T |
A |
4: 45,867,237 (GRCm39) |
C161* |
probably null |
Het |
Tecpr2 |
T |
A |
12: 110,921,219 (GRCm39) |
M1264K |
probably benign |
Het |
Tfap2c |
A |
T |
2: 172,399,156 (GRCm39) |
I468F |
probably damaging |
Het |
Ticam1 |
C |
T |
17: 56,578,555 (GRCm39) |
R180H |
probably damaging |
Het |
Tmem35b |
A |
T |
4: 127,019,846 (GRCm39) |
|
probably benign |
Het |
Ugt2b34 |
T |
C |
5: 87,054,172 (GRCm39) |
E203G |
probably damaging |
Het |
Vegfa |
A |
C |
17: 46,329,786 (GRCm39) |
*393G |
probably null |
Het |
Vmn2r16 |
T |
C |
5: 109,511,890 (GRCm39) |
V699A |
probably benign |
Het |
Zfp324 |
T |
C |
7: 12,705,145 (GRCm39) |
S445P |
probably damaging |
Het |
Zfp982 |
T |
A |
4: 147,597,049 (GRCm39) |
C135* |
probably null |
Het |
Zfp990 |
A |
C |
4: 145,263,439 (GRCm39) |
N146H |
probably damaging |
Het |
Zfyve26 |
A |
G |
12: 79,302,017 (GRCm39) |
Y431H |
possibly damaging |
Het |
|
Other mutations in Tlr4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01120:Tlr4
|
APN |
4 |
66,758,662 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01343:Tlr4
|
APN |
4 |
66,752,124 (GRCm39) |
splice site |
probably benign |
|
IGL01669:Tlr4
|
APN |
4 |
66,759,504 (GRCm39) |
missense |
possibly damaging |
0.48 |
IGL01875:Tlr4
|
APN |
4 |
66,757,726 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02138:Tlr4
|
APN |
4 |
66,759,202 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02244:Tlr4
|
APN |
4 |
66,752,298 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02793:Tlr4
|
APN |
4 |
66,757,681 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03269:Tlr4
|
APN |
4 |
66,759,033 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03288:Tlr4
|
APN |
4 |
66,757,990 (GRCm39) |
missense |
probably damaging |
0.99 |
bugsy
|
UTSW |
4 |
66,757,491 (GRCm39) |
nonsense |
probably null |
|
Cruyff
|
UTSW |
4 |
66,758,563 (GRCm39) |
missense |
probably damaging |
1.00 |
don_knotts
|
UTSW |
4 |
66,759,409 (GRCm39) |
missense |
probably damaging |
1.00 |
Guardiola
|
UTSW |
4 |
66,757,540 (GRCm39) |
missense |
probably damaging |
1.00 |
Lops
|
UTSW |
4 |
66,752,117 (GRCm39) |
splice site |
probably null |
|
lps3
|
UTSW |
4 |
66,759,334 (GRCm39) |
missense |
probably damaging |
1.00 |
Lps4
|
UTSW |
4 |
66,759,379 (GRCm39) |
missense |
probably damaging |
1.00 |
milquetoast
|
UTSW |
4 |
66,757,681 (GRCm39) |
missense |
probably damaging |
1.00 |
salvador
|
UTSW |
4 |
66,758,443 (GRCm39) |
missense |
probably damaging |
0.99 |
R0449:Tlr4
|
UTSW |
4 |
66,757,857 (GRCm39) |
missense |
probably damaging |
0.99 |
R0481:Tlr4
|
UTSW |
4 |
66,746,153 (GRCm39) |
missense |
probably benign |
0.05 |
R0576:Tlr4
|
UTSW |
4 |
66,757,732 (GRCm39) |
missense |
probably benign |
0.00 |
R0827:Tlr4
|
UTSW |
4 |
66,752,117 (GRCm39) |
splice site |
probably null |
|
R1488:Tlr4
|
UTSW |
4 |
66,757,786 (GRCm39) |
missense |
probably damaging |
1.00 |
R1490:Tlr4
|
UTSW |
4 |
66,757,611 (GRCm39) |
missense |
possibly damaging |
0.56 |
R1522:Tlr4
|
UTSW |
4 |
66,757,933 (GRCm39) |
missense |
possibly damaging |
0.80 |
R1616:Tlr4
|
UTSW |
4 |
66,757,717 (GRCm39) |
missense |
probably damaging |
1.00 |
R1681:Tlr4
|
UTSW |
4 |
66,759,342 (GRCm39) |
missense |
probably damaging |
1.00 |
R1738:Tlr4
|
UTSW |
4 |
66,759,313 (GRCm39) |
missense |
probably benign |
0.19 |
R1888:Tlr4
|
UTSW |
4 |
66,759,409 (GRCm39) |
missense |
probably damaging |
1.00 |
R1888:Tlr4
|
UTSW |
4 |
66,759,409 (GRCm39) |
missense |
probably damaging |
1.00 |
R1929:Tlr4
|
UTSW |
4 |
66,757,681 (GRCm39) |
missense |
probably damaging |
1.00 |
R1998:Tlr4
|
UTSW |
4 |
66,758,707 (GRCm39) |
missense |
probably damaging |
1.00 |
R2186:Tlr4
|
UTSW |
4 |
66,758,220 (GRCm39) |
missense |
possibly damaging |
0.63 |
R2305:Tlr4
|
UTSW |
4 |
66,758,338 (GRCm39) |
missense |
probably damaging |
1.00 |
R3011:Tlr4
|
UTSW |
4 |
66,757,491 (GRCm39) |
nonsense |
probably null |
|
R3420:Tlr4
|
UTSW |
4 |
66,757,773 (GRCm39) |
missense |
probably benign |
0.37 |
R3422:Tlr4
|
UTSW |
4 |
66,757,773 (GRCm39) |
missense |
probably benign |
0.37 |
R3818:Tlr4
|
UTSW |
4 |
66,759,553 (GRCm39) |
missense |
probably benign |
0.00 |
R4212:Tlr4
|
UTSW |
4 |
66,758,563 (GRCm39) |
missense |
probably damaging |
1.00 |
R4213:Tlr4
|
UTSW |
4 |
66,758,563 (GRCm39) |
missense |
probably damaging |
1.00 |
R4417:Tlr4
|
UTSW |
4 |
66,757,540 (GRCm39) |
missense |
probably damaging |
1.00 |
R4630:Tlr4
|
UTSW |
4 |
66,757,477 (GRCm39) |
missense |
probably benign |
0.44 |
R4735:Tlr4
|
UTSW |
4 |
66,759,435 (GRCm39) |
missense |
probably damaging |
1.00 |
R5191:Tlr4
|
UTSW |
4 |
66,759,616 (GRCm39) |
missense |
probably damaging |
0.96 |
R5613:Tlr4
|
UTSW |
4 |
66,759,122 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5705:Tlr4
|
UTSW |
4 |
66,752,217 (GRCm39) |
missense |
probably damaging |
1.00 |
R5726:Tlr4
|
UTSW |
4 |
66,758,652 (GRCm39) |
missense |
probably benign |
|
R6021:Tlr4
|
UTSW |
4 |
66,759,103 (GRCm39) |
missense |
probably damaging |
1.00 |
R6159:Tlr4
|
UTSW |
4 |
66,758,070 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6227:Tlr4
|
UTSW |
4 |
66,758,832 (GRCm39) |
missense |
probably benign |
|
R7139:Tlr4
|
UTSW |
4 |
66,758,520 (GRCm39) |
missense |
probably benign |
0.06 |
R7199:Tlr4
|
UTSW |
4 |
66,759,430 (GRCm39) |
missense |
probably damaging |
0.99 |
R7220:Tlr4
|
UTSW |
4 |
66,758,188 (GRCm39) |
missense |
probably benign |
|
R7337:Tlr4
|
UTSW |
4 |
66,758,191 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7487:Tlr4
|
UTSW |
4 |
66,842,659 (GRCm39) |
missense |
probably benign |
0.00 |
R7638:Tlr4
|
UTSW |
4 |
66,758,443 (GRCm39) |
missense |
probably damaging |
0.99 |
R7773:Tlr4
|
UTSW |
4 |
66,757,836 (GRCm39) |
missense |
probably damaging |
1.00 |
R7814:Tlr4
|
UTSW |
4 |
66,759,316 (GRCm39) |
missense |
probably damaging |
1.00 |
R7897:Tlr4
|
UTSW |
4 |
66,758,058 (GRCm39) |
missense |
probably benign |
0.07 |
R8044:Tlr4
|
UTSW |
4 |
66,746,084 (GRCm39) |
missense |
probably benign |
0.01 |
R8062:Tlr4
|
UTSW |
4 |
66,758,087 (GRCm39) |
missense |
probably benign |
0.00 |
R8080:Tlr4
|
UTSW |
4 |
66,757,713 (GRCm39) |
missense |
probably damaging |
1.00 |
R8446:Tlr4
|
UTSW |
4 |
66,757,673 (GRCm39) |
missense |
probably damaging |
0.98 |
R8916:Tlr4
|
UTSW |
4 |
66,847,268 (GRCm39) |
missense |
probably benign |
0.06 |
R9100:Tlr4
|
UTSW |
4 |
66,758,518 (GRCm39) |
missense |
probably benign |
0.08 |
R9415:Tlr4
|
UTSW |
4 |
66,746,160 (GRCm39) |
critical splice donor site |
probably null |
|
R9562:Tlr4
|
UTSW |
4 |
66,759,522 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9565:Tlr4
|
UTSW |
4 |
66,759,522 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9752:Tlr4
|
UTSW |
4 |
66,757,912 (GRCm39) |
missense |
probably benign |
0.02 |
X0064:Tlr4
|
UTSW |
4 |
66,758,377 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1088:Tlr4
|
UTSW |
4 |
66,847,319 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- GTACAAGACAATCATCAGTGTGTC -3'
(R):5'- GCTGCTCAGAAACTGCCATG -3'
Sequencing Primer
(F):5'- AGACAATCATCAGTGTGTCAGTGGTC -3'
(R):5'- CTGCTCAGAAACTGCCATGTTTGAG -3'
|
Posted On |
2014-08-25 |