Incidental Mutation 'R4630:Tlr4'
ID |
349102 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tlr4
|
Ensembl Gene |
ENSMUSG00000039005 |
Gene Name |
toll-like receptor 4 |
Synonyms |
Lps, lipopolysaccharide response, Rasl2-8 |
MMRRC Submission |
041895-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4630 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
66745788-66765338 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 66757477 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 90
(E90G)
|
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: E90G
PolyPhen 2
Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000045770 Gene: ENSMUSG00000039005 AA Change: E90G
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
97% (74/76) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110070M22Rik |
A |
T |
13: 119,624,622 (GRCm39) |
|
probably benign |
Het |
Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
Aopep |
T |
C |
13: 63,215,906 (GRCm39) |
S393P |
probably benign |
Het |
BC024139 |
T |
G |
15: 76,009,294 (GRCm39) |
Q240P |
probably benign |
Het |
Bckdha |
A |
T |
7: 25,330,884 (GRCm39) |
I44N |
probably damaging |
Het |
Brpf1 |
T |
C |
6: 113,286,867 (GRCm39) |
Y32H |
probably damaging |
Het |
Catip |
A |
G |
1: 74,408,072 (GRCm39) |
|
probably benign |
Het |
Ccdc138 |
T |
C |
10: 58,409,477 (GRCm39) |
L602P |
probably damaging |
Het |
Cilp |
A |
T |
9: 65,187,162 (GRCm39) |
T1086S |
probably benign |
Het |
Comp |
A |
T |
8: 70,827,032 (GRCm39) |
I58F |
possibly damaging |
Het |
Crygs |
T |
C |
16: 22,624,268 (GRCm39) |
E113G |
possibly damaging |
Het |
Dnmt3b |
C |
T |
2: 153,512,235 (GRCm39) |
R319* |
probably null |
Het |
Eif3a |
A |
G |
19: 60,758,366 (GRCm39) |
I804T |
unknown |
Het |
Eif3a |
A |
T |
19: 60,766,424 (GRCm39) |
H301Q |
probably benign |
Het |
Elf3 |
A |
T |
1: 135,184,478 (GRCm39) |
|
probably benign |
Het |
Fads2b |
C |
A |
2: 85,348,990 (GRCm39) |
G41* |
probably null |
Het |
Gm10384 |
A |
G |
15: 36,872,017 (GRCm39) |
|
noncoding transcript |
Het |
Gm11627 |
T |
A |
11: 102,469,657 (GRCm39) |
|
probably benign |
Het |
Gpr183 |
A |
T |
14: 122,192,261 (GRCm39) |
Y87N |
probably damaging |
Het |
Gpr183 |
G |
C |
14: 122,192,262 (GRCm39) |
Y86* |
probably null |
Het |
Gpr26 |
T |
C |
7: 131,568,709 (GRCm39) |
V18A |
probably damaging |
Het |
Herc1 |
T |
A |
9: 66,340,996 (GRCm39) |
|
probably null |
Het |
Hint2 |
C |
T |
4: 43,656,396 (GRCm39) |
|
probably benign |
Het |
Jag1 |
A |
T |
2: 136,927,899 (GRCm39) |
D837E |
probably damaging |
Het |
Jmjd1c |
C |
A |
10: 66,993,753 (GRCm39) |
S78* |
probably null |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
Lalba |
T |
C |
15: 98,380,549 (GRCm39) |
M2V |
probably benign |
Het |
Lama1 |
T |
A |
17: 68,101,295 (GRCm39) |
D1929E |
probably benign |
Het |
Macf1 |
T |
C |
4: 123,367,432 (GRCm39) |
K878R |
possibly damaging |
Het |
Mboat4 |
T |
C |
8: 34,591,108 (GRCm39) |
S182P |
probably damaging |
Het |
Muc5b |
A |
T |
7: 141,411,721 (GRCm39) |
T1556S |
unknown |
Het |
Myo1g |
T |
C |
11: 6,469,047 (GRCm39) |
Y85C |
probably damaging |
Het |
Ncapd2 |
C |
A |
6: 125,156,196 (GRCm39) |
|
probably null |
Het |
Nox3 |
T |
C |
17: 3,744,257 (GRCm39) |
D96G |
possibly damaging |
Het |
Or10a48 |
T |
C |
7: 108,424,802 (GRCm39) |
M135V |
probably damaging |
Het |
Or1e17 |
T |
C |
11: 73,831,822 (GRCm39) |
L250P |
probably damaging |
Het |
Or6c212 |
A |
G |
10: 129,559,350 (GRCm39) |
L21P |
probably damaging |
Het |
Pacs1 |
C |
T |
19: 5,206,384 (GRCm39) |
|
probably null |
Het |
Pgap4 |
C |
G |
4: 49,586,254 (GRCm39) |
V305L |
probably benign |
Het |
Pgm5 |
C |
A |
19: 24,812,110 (GRCm39) |
G141* |
probably null |
Het |
Pik3r4 |
A |
G |
9: 105,532,098 (GRCm39) |
M557V |
probably benign |
Het |
Pld4 |
T |
A |
12: 112,731,498 (GRCm39) |
V217D |
probably damaging |
Het |
Pphln1-ps1 |
T |
C |
16: 13,495,278 (GRCm39) |
S126P |
probably damaging |
Het |
Ppp1r3c |
T |
C |
19: 36,710,915 (GRCm39) |
E285G |
probably benign |
Het |
Pradc1 |
T |
A |
6: 85,424,275 (GRCm39) |
M24L |
possibly damaging |
Het |
Prepl |
T |
C |
17: 85,390,659 (GRCm39) |
T100A |
probably benign |
Het |
Rmi2 |
C |
T |
16: 10,704,073 (GRCm39) |
T138I |
probably benign |
Het |
Rtkn |
A |
T |
6: 83,129,163 (GRCm39) |
K540* |
probably null |
Het |
Sag |
C |
A |
1: 87,762,340 (GRCm39) |
T335K |
probably damaging |
Het |
Setd4 |
A |
G |
16: 93,388,114 (GRCm39) |
L124P |
probably benign |
Het |
Sh3gl2 |
A |
G |
4: 85,297,646 (GRCm39) |
D208G |
probably damaging |
Het |
Sult4a1 |
T |
C |
15: 83,989,779 (GRCm39) |
T8A |
possibly damaging |
Het |
Tert |
A |
G |
13: 73,797,110 (GRCm39) |
D1116G |
probably damaging |
Het |
Tmem123 |
T |
C |
9: 7,791,393 (GRCm39) |
L164P |
probably damaging |
Het |
Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
Trak1 |
G |
A |
9: 121,283,491 (GRCm39) |
R419Q |
probably benign |
Het |
Trp53bp1 |
G |
T |
2: 121,038,368 (GRCm39) |
A1490D |
probably damaging |
Het |
Ttc16 |
T |
C |
2: 32,665,389 (GRCm39) |
|
probably benign |
Het |
Tyw5 |
T |
A |
1: 57,427,686 (GRCm39) |
Q306L |
probably damaging |
Het |
Ube2j2 |
T |
A |
4: 156,039,715 (GRCm39) |
I14N |
probably damaging |
Het |
Vmn2r103 |
T |
C |
17: 20,013,958 (GRCm39) |
I250T |
probably benign |
Het |
Zar1 |
A |
G |
5: 72,738,249 (GRCm39) |
V51A |
probably benign |
Het |
Zbtb38 |
T |
G |
9: 96,570,904 (GRCm39) |
N60T |
probably damaging |
Het |
Zfp354a |
T |
C |
11: 50,961,045 (GRCm39) |
S417P |
probably damaging |
Het |
Zfp410 |
A |
T |
12: 84,372,510 (GRCm39) |
D112V |
probably damaging |
Het |
Zfp518a |
C |
T |
19: 40,901,423 (GRCm39) |
Q451* |
probably null |
Het |
Zfp64 |
T |
C |
2: 168,768,463 (GRCm39) |
N383S |
possibly damaging |
Het |
Zfp687 |
A |
T |
3: 94,919,799 (GRCm39) |
|
probably null |
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 |
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'- ACAAATCTGCAGAGTTCCTCTCC -3'
(R):5'- GAGCCACATTGAGTTTCTTTAAGG -3'
Sequencing Primer
(F):5'- CTGCTCACACCATCATCACCTG -3'
(R):5'- TAAGGTTATAAGCTGTCCAATAGGG -3'
|
Posted On |
2015-10-08 |