Incidental Mutation 'R0449:Tlr4'
ID |
39505 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tlr4
|
Ensembl Gene |
ENSMUSG00000039005 |
Gene Name |
toll-like receptor 4 |
Synonyms |
Lps, lipopolysaccharide response, Rasl2-8 |
MMRRC Submission |
038649-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0449 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
66745788-66765338 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 66757857 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 217
(I217L)
|
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 damaging
Transcript: ENSMUST00000048096
AA Change: I217L
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000045770 Gene: ENSMUSG00000039005 AA Change: I217L
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: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.7%
|
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb4 |
A |
T |
5: 8,989,885 (GRCm39) |
R813* |
probably null |
Het |
Accsl |
T |
A |
2: 93,696,419 (GRCm39) |
I60F |
probably benign |
Het |
Adam29 |
C |
T |
8: 56,325,716 (GRCm39) |
G246D |
probably benign |
Het |
Ankrd13c |
A |
G |
3: 157,697,351 (GRCm39) |
I319V |
probably benign |
Het |
Bag6 |
T |
G |
17: 35,360,442 (GRCm39) |
V327G |
probably damaging |
Het |
Barhl1 |
C |
T |
2: 28,805,304 (GRCm39) |
A130T |
probably benign |
Het |
Bend4 |
T |
C |
5: 67,555,583 (GRCm39) |
D541G |
probably damaging |
Het |
Birc6 |
A |
C |
17: 74,999,290 (GRCm39) |
T4673P |
probably damaging |
Het |
Ccdc81 |
T |
C |
7: 89,539,679 (GRCm39) |
R186G |
probably damaging |
Het |
Cdyl2 |
A |
G |
8: 117,309,931 (GRCm39) |
F342L |
probably damaging |
Het |
Chd3 |
C |
A |
11: 69,248,367 (GRCm39) |
V748L |
probably damaging |
Het |
CN725425 |
G |
T |
15: 91,123,147 (GRCm39) |
R72I |
possibly damaging |
Het |
Col22a1 |
A |
G |
15: 71,834,520 (GRCm39) |
|
probably null |
Het |
Cops3 |
A |
G |
11: 59,709,243 (GRCm39) |
|
probably null |
Het |
Ctnnd1 |
G |
T |
2: 84,433,606 (GRCm39) |
Q940K |
possibly damaging |
Het |
Dtnb |
C |
T |
12: 3,641,971 (GRCm39) |
Q45* |
probably null |
Het |
Efr3a |
T |
A |
15: 65,714,553 (GRCm39) |
I280K |
probably damaging |
Het |
Eml6 |
A |
C |
11: 29,843,213 (GRCm39) |
V167G |
probably benign |
Het |
Fam83c |
T |
A |
2: 155,672,215 (GRCm39) |
M407L |
probably benign |
Het |
Fasn |
T |
C |
11: 120,701,894 (GRCm39) |
T1862A |
probably benign |
Het |
Fbxl6 |
A |
G |
15: 76,420,155 (GRCm39) |
I486T |
probably damaging |
Het |
Gpr182 |
A |
G |
10: 127,586,565 (GRCm39) |
Y129H |
probably damaging |
Het |
Gpr75 |
A |
G |
11: 30,842,456 (GRCm39) |
S454G |
probably damaging |
Het |
Hectd4 |
G |
A |
5: 121,502,653 (GRCm39) |
|
probably null |
Het |
Hsf4 |
A |
G |
8: 106,002,222 (GRCm39) |
T411A |
probably benign |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Il4 |
A |
T |
11: 53,509,432 (GRCm39) |
M1K |
probably null |
Het |
Ints11 |
G |
T |
4: 155,972,405 (GRCm39) |
R463L |
probably benign |
Het |
Ints4 |
G |
A |
7: 97,178,430 (GRCm39) |
E677K |
probably damaging |
Het |
Klk1b11 |
G |
A |
7: 43,647,216 (GRCm39) |
C50Y |
probably damaging |
Het |
Krt14 |
C |
A |
11: 100,098,221 (GRCm39) |
G21C |
unknown |
Het |
Krt81 |
C |
A |
15: 101,361,508 (GRCm39) |
R24L |
possibly damaging |
Het |
L3mbtl2 |
C |
T |
15: 81,552,942 (GRCm39) |
A125V |
probably damaging |
Het |
Lama3 |
A |
G |
18: 12,633,569 (GRCm39) |
|
probably null |
Het |
Lrrk2 |
T |
C |
15: 91,634,478 (GRCm39) |
L1414P |
probably damaging |
Het |
Matn2 |
T |
C |
15: 34,428,687 (GRCm39) |
S684P |
probably damaging |
Het |
Mga |
T |
A |
2: 119,771,862 (GRCm39) |
V1574D |
probably damaging |
Het |
Mia2 |
T |
C |
12: 59,219,380 (GRCm39) |
|
probably null |
Het |
Mrpl21 |
T |
A |
19: 3,342,459 (GRCm39) |
|
probably benign |
Het |
Msh5 |
T |
A |
17: 35,260,458 (GRCm39) |
Q266L |
probably benign |
Het |
Mybpc1 |
C |
A |
10: 88,376,822 (GRCm39) |
C758F |
probably damaging |
Het |
Myo15a |
G |
A |
11: 60,400,422 (GRCm39) |
A2932T |
possibly damaging |
Het |
Nbas |
T |
A |
12: 13,569,109 (GRCm39) |
I2021K |
probably benign |
Het |
Neurl4 |
T |
C |
11: 69,796,393 (GRCm39) |
S424P |
probably damaging |
Het |
Or10j5 |
T |
A |
1: 172,784,965 (GRCm39) |
V201E |
probably damaging |
Het |
Or2w3 |
A |
C |
11: 58,556,789 (GRCm39) |
I135L |
probably benign |
Het |
Or6c6 |
A |
G |
10: 129,187,103 (GRCm39) |
M224V |
probably benign |
Het |
Or7g17 |
T |
C |
9: 18,767,945 (GRCm39) |
M8T |
probably benign |
Het |
Or7g32 |
T |
A |
9: 19,389,388 (GRCm39) |
I53F |
possibly damaging |
Het |
Phlpp1 |
C |
T |
1: 106,278,308 (GRCm39) |
R907W |
probably damaging |
Het |
Pigg |
T |
C |
5: 108,484,277 (GRCm39) |
V508A |
probably benign |
Het |
Pkhd1l1 |
T |
G |
15: 44,364,915 (GRCm39) |
Y685D |
probably damaging |
Het |
Polr3a |
A |
T |
14: 24,534,534 (GRCm39) |
I34N |
probably damaging |
Het |
Pramel17 |
T |
C |
4: 101,694,158 (GRCm39) |
S242G |
probably benign |
Het |
Prex1 |
A |
G |
2: 166,411,297 (GRCm39) |
V1434A |
probably benign |
Het |
Ptprh |
T |
A |
7: 4,601,005 (GRCm39) |
D124V |
probably damaging |
Het |
Rad54b |
T |
A |
4: 11,606,131 (GRCm39) |
I513N |
probably benign |
Het |
Rbm12b1 |
A |
G |
4: 12,145,507 (GRCm39) |
N493S |
probably benign |
Het |
Rfx7 |
A |
T |
9: 72,517,586 (GRCm39) |
|
probably null |
Het |
Serpini1 |
A |
G |
3: 75,520,648 (GRCm39) |
K82E |
probably benign |
Het |
Slc27a6 |
T |
G |
18: 58,742,237 (GRCm39) |
|
probably null |
Het |
Slc35f2 |
G |
T |
9: 53,724,201 (GRCm39) |
L358F |
probably damaging |
Het |
Slc45a1 |
A |
C |
4: 150,727,762 (GRCm39) |
I158M |
probably damaging |
Het |
Slurp2 |
G |
A |
15: 74,614,955 (GRCm39) |
P62L |
probably damaging |
Het |
Sspo |
C |
T |
6: 48,443,674 (GRCm39) |
H1949Y |
probably damaging |
Het |
Tiam1 |
A |
T |
16: 89,634,715 (GRCm39) |
V865E |
possibly damaging |
Het |
Top1 |
C |
T |
2: 160,554,628 (GRCm39) |
R460* |
probably null |
Het |
Trpm3 |
T |
A |
19: 22,965,418 (GRCm39) |
S1638T |
probably benign |
Het |
Tubgcp5 |
C |
T |
7: 55,473,315 (GRCm39) |
R798C |
probably benign |
Het |
Vars1 |
T |
G |
17: 35,231,703 (GRCm39) |
|
probably null |
Het |
Xylt2 |
A |
G |
11: 94,557,159 (GRCm39) |
Y111H |
probably benign |
Het |
Zbed5 |
G |
A |
5: 129,930,567 (GRCm39) |
G172D |
probably damaging |
Het |
Zfp53 |
C |
T |
17: 21,729,095 (GRCm39) |
T376I |
probably benign |
Het |
Zfp937 |
G |
T |
2: 150,081,466 (GRCm39) |
V499L |
probably benign |
Het |
Zyx |
T |
A |
6: 42,328,247 (GRCm39) |
L152Q |
probably 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 |
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 |
R1982:Tlr4
|
UTSW |
4 |
66,759,272 (GRCm39) |
missense |
probably benign |
0.40 |
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'- AGACAAGGCATGGCATGGCTTAC -3'
(R):5'- GCAGAAACATTCGCCAAGCAATGG -3'
Sequencing Primer
(F):5'- CTCTAGAAAGCTTCCCTATTGGACAG -3'
(R):5'- CATCACATAGTCCTTCCATGATAGAG -3'
|
Posted On |
2013-05-23 |