Incidental Mutation 'R7337:Tlr4'
ID |
569559 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tlr4
|
Ensembl Gene |
ENSMUSG00000039005 |
Gene Name |
toll-like receptor 4 |
Synonyms |
Lps, lipopolysaccharide response, Rasl2-8 |
MMRRC Submission |
045427-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7337 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
66745788-66765338 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 66758191 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 328
(F328S)
|
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 |
possibly damaging
Transcript: ENSMUST00000048096
AA Change: F328S
PolyPhen 2
Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000045770 Gene: ENSMUSG00000039005 AA Change: F328S
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 |
|
Meta Mutation Damage Score |
0.1863 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (88/88) |
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: 88 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
A |
T |
2: 69,076,113 (GRCm39) |
H1198Q |
probably damaging |
Het |
Adamts14 |
A |
G |
10: 61,043,239 (GRCm39) |
V743A |
probably damaging |
Het |
Adgrg6 |
A |
G |
10: 14,343,095 (GRCm39) |
V284A |
possibly damaging |
Het |
Alb |
A |
G |
5: 90,622,452 (GRCm39) |
K560R |
probably damaging |
Het |
Aqp9 |
A |
T |
9: 71,069,764 (GRCm39) |
F8L |
probably benign |
Het |
Arhgef7 |
T |
C |
8: 11,835,789 (GRCm39) |
L182P |
probably damaging |
Het |
Atr |
A |
G |
9: 95,753,501 (GRCm39) |
D701G |
probably damaging |
Het |
Calr3 |
C |
T |
8: 73,185,339 (GRCm39) |
D187N |
probably damaging |
Het |
Ccdc198 |
A |
G |
14: 49,471,948 (GRCm39) |
M163T |
possibly damaging |
Het |
Ccdc65 |
A |
G |
15: 98,618,977 (GRCm39) |
T319A |
probably benign |
Het |
Ccdc66 |
A |
T |
14: 27,222,290 (GRCm39) |
L151H |
probably damaging |
Het |
Ces2e |
T |
A |
8: 105,657,688 (GRCm39) |
|
probably null |
Het |
Cfap46 |
A |
G |
7: 139,210,492 (GRCm39) |
|
probably null |
Het |
Cfap74 |
A |
G |
4: 155,544,472 (GRCm39) |
T1034A |
unknown |
Het |
Cldnd1 |
T |
G |
16: 58,549,322 (GRCm39) |
|
probably null |
Het |
Clec4f |
C |
A |
6: 83,630,190 (GRCm39) |
V123L |
probably benign |
Het |
Cntn6 |
C |
T |
6: 104,627,491 (GRCm39) |
T108I |
probably damaging |
Het |
Crygn |
T |
G |
5: 24,961,147 (GRCm39) |
D53A |
possibly damaging |
Het |
Cyp27a1 |
T |
A |
1: 74,774,594 (GRCm39) |
V204E |
probably damaging |
Het |
Cyp2c67 |
A |
T |
19: 39,597,708 (GRCm39) |
|
probably null |
Het |
Ddb1 |
T |
C |
19: 10,605,195 (GRCm39) |
V1061A |
possibly damaging |
Het |
Dnah12 |
G |
T |
14: 26,488,534 (GRCm39) |
|
probably null |
Het |
Draxin |
T |
C |
4: 148,197,216 (GRCm39) |
T194A |
probably benign |
Het |
Drosha |
T |
A |
15: 12,846,285 (GRCm39) |
D473E |
possibly damaging |
Het |
Ecpas |
T |
C |
4: 58,827,047 (GRCm39) |
T1029A |
possibly damaging |
Het |
G6pd2 |
T |
A |
5: 61,967,562 (GRCm39) |
C446S |
probably benign |
Het |
Gm29106 |
C |
T |
1: 118,104,642 (GRCm39) |
S3L |
unknown |
Het |
Grin3a |
T |
C |
4: 49,702,762 (GRCm39) |
Y908C |
probably damaging |
Het |
Ints2 |
G |
A |
11: 86,108,668 (GRCm39) |
A893V |
probably benign |
Het |
Ippk |
C |
T |
13: 49,602,767 (GRCm39) |
T371I |
probably benign |
Het |
Irf2 |
T |
A |
8: 47,260,316 (GRCm39) |
C83S |
probably damaging |
Het |
Jph3 |
C |
T |
8: 122,480,441 (GRCm39) |
A373V |
probably benign |
Het |
Kcnj6 |
C |
T |
16: 94,634,073 (GRCm39) |
V13I |
probably benign |
Het |
Lama3 |
T |
C |
18: 12,640,097 (GRCm39) |
|
probably null |
Het |
Lmo7 |
A |
T |
14: 102,121,640 (GRCm39) |
Q235L |
probably damaging |
Het |
Marchf7 |
A |
G |
2: 60,071,189 (GRCm39) |
|
probably null |
Het |
Mfsd6l |
A |
T |
11: 68,448,109 (GRCm39) |
Y320F |
possibly damaging |
Het |
Mroh1 |
T |
A |
15: 76,335,676 (GRCm39) |
W1440R |
probably benign |
Het |
Mrps17 |
G |
A |
5: 129,793,863 (GRCm39) |
G19D |
probably damaging |
Het |
Myt1 |
A |
G |
2: 181,444,756 (GRCm39) |
H566R |
possibly damaging |
Het |
Nav2 |
T |
C |
7: 49,201,521 (GRCm39) |
L176P |
possibly damaging |
Het |
Nop58 |
T |
A |
1: 59,737,599 (GRCm39) |
C139S |
probably benign |
Het |
Nsd1 |
A |
G |
13: 55,394,022 (GRCm39) |
D644G |
probably damaging |
Het |
Nsd2 |
T |
A |
5: 34,042,816 (GRCm39) |
C1027S |
probably damaging |
Het |
Nsmce2 |
A |
G |
15: 59,473,265 (GRCm39) |
I235V |
probably damaging |
Het |
Nyap2 |
T |
C |
1: 81,314,230 (GRCm39) |
V642A |
possibly damaging |
Het |
Or14n1-ps1 |
A |
T |
7: 86,092,328 (GRCm39) |
L46F |
unknown |
Het |
Or8g51 |
A |
G |
9: 38,609,161 (GRCm39) |
V167A |
probably benign |
Het |
Paqr7 |
A |
G |
4: 134,234,431 (GRCm39) |
D96G |
probably benign |
Het |
Parp4 |
A |
G |
14: 56,839,852 (GRCm39) |
Y520C |
probably damaging |
Het |
Pde5a |
A |
G |
3: 122,542,107 (GRCm39) |
N199S |
probably damaging |
Het |
Piezo1 |
A |
T |
8: 123,212,463 (GRCm39) |
Y1955N |
|
Het |
Pnma8a |
A |
G |
7: 16,695,315 (GRCm39) |
K390R |
probably benign |
Het |
Prdm10 |
G |
T |
9: 31,227,537 (GRCm39) |
Q47H |
probably damaging |
Het |
Psg22 |
T |
A |
7: 18,453,499 (GRCm39) |
F104I |
probably benign |
Het |
Ptprf |
T |
C |
4: 118,068,322 (GRCm39) |
E1738G |
probably damaging |
Het |
Rad21l |
A |
T |
2: 151,500,365 (GRCm39) |
L218Q |
probably damaging |
Het |
Rad54l2 |
A |
G |
9: 106,583,024 (GRCm39) |
I798T |
probably damaging |
Het |
Rgs5 |
G |
T |
1: 169,483,149 (GRCm39) |
M1I |
probably null |
Het |
Rhbdl2 |
T |
C |
4: 123,711,659 (GRCm39) |
V132A |
possibly damaging |
Het |
Rmi1 |
T |
A |
13: 58,557,393 (GRCm39) |
Y547* |
probably null |
Het |
Rptn |
A |
T |
3: 93,304,212 (GRCm39) |
D515V |
probably benign |
Het |
Rsph10b |
A |
G |
5: 143,898,033 (GRCm39) |
N505D |
probably benign |
Het |
Samhd1 |
T |
C |
2: 156,948,164 (GRCm39) |
D539G |
probably damaging |
Het |
Scube3 |
A |
T |
17: 28,387,156 (GRCm39) |
I885F |
probably damaging |
Het |
Sfmbt1 |
A |
G |
14: 30,506,696 (GRCm39) |
I247V |
possibly damaging |
Het |
Slc25a21 |
T |
C |
12: 56,904,828 (GRCm39) |
I62V |
probably benign |
Het |
Slc4a11 |
T |
A |
2: 130,527,452 (GRCm39) |
N648Y |
probably damaging |
Het |
Slc7a11 |
A |
G |
3: 50,397,448 (GRCm39) |
V88A |
possibly damaging |
Het |
Slc7a8 |
A |
C |
14: 54,964,263 (GRCm39) |
F397V |
possibly damaging |
Het |
Sox12 |
A |
C |
2: 152,239,377 (GRCm39) |
L81R |
probably damaging |
Het |
Spg11 |
T |
C |
2: 121,915,474 (GRCm39) |
I1057V |
probably benign |
Het |
St8sia3 |
G |
A |
18: 64,402,987 (GRCm39) |
V265I |
probably benign |
Het |
Stxbp5 |
A |
G |
10: 9,684,874 (GRCm39) |
S509P |
possibly damaging |
Het |
Svep1 |
T |
C |
4: 58,108,323 (GRCm39) |
Y1129C |
probably damaging |
Het |
Tenm4 |
G |
T |
7: 96,523,333 (GRCm39) |
R1625L |
probably benign |
Het |
Tmprss15 |
T |
C |
16: 78,868,164 (GRCm39) |
T215A |
probably benign |
Het |
Tmprss9 |
A |
T |
10: 80,718,504 (GRCm39) |
I62L |
probably benign |
Het |
Trpm5 |
C |
T |
7: 142,642,756 (GRCm39) |
A64T |
probably benign |
Het |
Txk |
A |
C |
5: 72,889,109 (GRCm39) |
Y148* |
probably null |
Het |
Uba5 |
C |
T |
9: 103,932,454 (GRCm39) |
G170R |
possibly damaging |
Het |
Uggt2 |
A |
T |
14: 119,323,587 (GRCm39) |
D231E |
probably benign |
Het |
Ulk4 |
A |
T |
9: 121,077,993 (GRCm39) |
D525E |
probably benign |
Het |
Vmn1r158 |
T |
A |
7: 22,489,649 (GRCm39) |
T187S |
probably benign |
Het |
Vmn1r52 |
T |
A |
6: 90,156,605 (GRCm39) |
M303K |
probably benign |
Het |
Vmn2r54 |
A |
G |
7: 12,356,044 (GRCm39) |
F454S |
probably benign |
Het |
Zbp1 |
A |
T |
2: 173,060,546 (GRCm39) |
L8* |
probably null |
Het |
Zmym2 |
A |
T |
14: 57,181,557 (GRCm39) |
D924V |
probably benign |
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 |
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 |
|
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'- ACGTCCATCGGTTGATCTTG -3'
(R):5'- CCACTAAAGCTCAGTGCATTTC -3'
Sequencing Primer
(F):5'- GGAATCTGGAAATTTTTGAACCCTC -3'
(R):5'- GCTCAGTGCATTTCTACTAAGATC -3'
|
Posted On |
2019-09-13 |