Incidental Mutation 'R0481:Tlr4'
| ID |
43349 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tlr4
|
| Ensembl Gene |
ENSMUSG00000039005 |
| Gene Name |
toll-like receptor 4 |
| Synonyms |
Lps, lipopolysaccharide response, Rasl2-8 |
| MMRRC Submission |
038681-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0481 (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 66746153 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 29
(I29V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102988
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048096]
[ENSMUST00000107365]
|
| AlphaFold |
Q9QUK6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048096
AA Change: I29V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000045770
Gene: ENSMUSG00000039005
AA Change: I29V
| 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
AA Change: I29V
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000102988
Gene: ENSMUSG00000039005
AA Change: I29V
| 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: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.3%
|
| Validation Efficiency |
95% (89/94) |
| 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: 87 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
T |
A |
9: 44,190,666 (GRCm39) |
N39Y |
probably benign |
Het |
| Adamts10 |
C |
T |
17: 33,768,347 (GRCm39) |
Q840* |
probably null |
Het |
| Aff2 |
C |
T |
X: 68,878,248 (GRCm39) |
T678I |
probably damaging |
Het |
| Ahctf1 |
A |
G |
1: 179,587,836 (GRCm39) |
V1418A |
probably benign |
Het |
| Ankrd11 |
G |
A |
8: 123,626,775 (GRCm39) |
R136C |
probably damaging |
Het |
| Arf5 |
A |
G |
6: 28,426,075 (GRCm39) |
Y154C |
probably damaging |
Het |
| AW551984 |
A |
G |
9: 39,511,912 (GRCm39) |
V33A |
probably null |
Het |
| B4galt5 |
A |
G |
2: 167,151,154 (GRCm39) |
L118P |
probably damaging |
Het |
| Bcl9l |
A |
G |
9: 44,417,979 (GRCm39) |
I606V |
probably benign |
Het |
| Bdp1 |
A |
G |
13: 100,177,962 (GRCm39) |
I1969T |
probably benign |
Het |
| Bicd1 |
A |
T |
6: 149,413,389 (GRCm39) |
D260V |
possibly damaging |
Het |
| Cap1 |
A |
T |
4: 122,756,868 (GRCm39) |
H272Q |
possibly damaging |
Het |
| Ccnk |
A |
G |
12: 108,165,568 (GRCm39) |
|
probably benign |
Het |
| Cd209f |
A |
T |
8: 4,155,558 (GRCm39) |
|
probably null |
Het |
| Cdk13 |
C |
A |
13: 17,894,079 (GRCm39) |
A1123S |
probably damaging |
Het |
| Cdx1 |
C |
T |
18: 61,153,564 (GRCm39) |
R158H |
probably damaging |
Het |
| Chd8 |
A |
G |
14: 52,474,663 (GRCm39) |
S123P |
probably benign |
Het |
| Cwc22 |
G |
A |
2: 77,738,455 (GRCm39) |
A497V |
probably damaging |
Het |
| Cwh43 |
T |
C |
5: 73,575,370 (GRCm39) |
S296P |
probably damaging |
Het |
| Dhx38 |
A |
T |
8: 110,282,848 (GRCm39) |
|
probably benign |
Het |
| Dnah5 |
T |
A |
15: 28,383,745 (GRCm39) |
M2989K |
probably benign |
Het |
| Dpy19l4 |
A |
C |
4: 11,272,993 (GRCm39) |
|
probably benign |
Het |
| F11r |
A |
T |
1: 171,288,847 (GRCm39) |
H155L |
probably benign |
Het |
| Fcgbpl1 |
A |
T |
7: 27,853,174 (GRCm39) |
D1487V |
probably damaging |
Het |
| Fitm2 |
A |
G |
2: 163,311,634 (GRCm39) |
V193A |
probably benign |
Het |
| Foxk1 |
T |
A |
5: 142,434,578 (GRCm39) |
S281T |
probably benign |
Het |
| Furin |
A |
G |
7: 80,043,297 (GRCm39) |
C305R |
probably damaging |
Het |
| Fut8 |
T |
A |
12: 77,495,334 (GRCm39) |
V308D |
probably damaging |
Het |
| Gjb3 |
T |
A |
4: 127,220,125 (GRCm39) |
I136F |
probably benign |
Het |
| Glmn |
A |
T |
5: 107,708,800 (GRCm39) |
S385T |
probably benign |
Het |
| Glp1r |
T |
A |
17: 31,150,191 (GRCm39) |
M371K |
probably benign |
Het |
| Gpr179 |
T |
C |
11: 97,240,544 (GRCm39) |
H293R |
probably damaging |
Het |
| H2-M11 |
A |
T |
17: 36,859,846 (GRCm39) |
R280* |
probably null |
Het |
| Hadhb |
T |
A |
5: 30,373,543 (GRCm39) |
H78Q |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,433,569 (GRCm39) |
|
probably benign |
Het |
| Hexa |
A |
G |
9: 59,462,693 (GRCm39) |
|
probably benign |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Hyal6 |
G |
A |
6: 24,743,417 (GRCm39) |
C371Y |
probably damaging |
Het |
| Il1rap |
T |
C |
16: 26,511,585 (GRCm39) |
Y210H |
probably damaging |
Het |
| Ino80 |
A |
T |
2: 119,261,497 (GRCm39) |
H722Q |
probably damaging |
Het |
| Kcnt1 |
A |
G |
2: 25,782,508 (GRCm39) |
N200S |
probably damaging |
Het |
| Kif27 |
T |
A |
13: 58,459,078 (GRCm39) |
|
probably benign |
Het |
| Lyst |
T |
C |
13: 13,852,537 (GRCm39) |
V2179A |
probably benign |
Het |
| Macf1 |
C |
A |
4: 123,377,815 (GRCm39) |
|
probably null |
Het |
| Mamdc4 |
A |
G |
2: 25,461,228 (GRCm39) |
M1T |
probably null |
Het |
| Mansc4 |
A |
G |
6: 146,976,725 (GRCm39) |
I297T |
possibly damaging |
Het |
| Mdn1 |
G |
A |
4: 32,767,182 (GRCm39) |
|
probably benign |
Het |
| Mib2 |
A |
G |
4: 155,740,519 (GRCm39) |
|
probably benign |
Het |
| Mon2 |
A |
G |
10: 122,849,301 (GRCm39) |
V1333A |
possibly damaging |
Het |
| Ndst2 |
T |
C |
14: 20,774,536 (GRCm39) |
D840G |
possibly damaging |
Het |
| Nell2 |
A |
T |
15: 95,330,563 (GRCm39) |
|
probably null |
Het |
| Or4c102 |
A |
T |
2: 88,422,999 (GRCm39) |
I284F |
probably damaging |
Het |
| Or4k51 |
T |
A |
2: 111,584,930 (GRCm39) |
M112K |
probably damaging |
Het |
| Or5g29 |
C |
A |
2: 85,421,448 (GRCm39) |
A188E |
possibly damaging |
Het |
| Pde5a |
C |
T |
3: 122,611,726 (GRCm39) |
|
probably benign |
Het |
| Phip |
A |
G |
9: 82,758,769 (GRCm39) |
|
probably benign |
Het |
| Polr2b |
A |
G |
5: 77,479,929 (GRCm39) |
I561V |
possibly damaging |
Het |
| Ppp4r3c2 |
T |
C |
X: 88,796,299 (GRCm39) |
S44P |
probably damaging |
Het |
| Prkg2 |
A |
T |
5: 99,142,514 (GRCm39) |
|
probably null |
Het |
| Prl8a6 |
T |
C |
13: 27,617,084 (GRCm39) |
D201G |
probably benign |
Het |
| Ptk6 |
G |
A |
2: 180,844,320 (GRCm39) |
|
probably benign |
Het |
| Ptprn2 |
T |
C |
12: 117,175,466 (GRCm39) |
|
probably benign |
Het |
| Rdh1 |
G |
T |
10: 127,598,993 (GRCm39) |
R158L |
probably damaging |
Het |
| Rhbdl3 |
T |
C |
11: 80,214,175 (GRCm39) |
|
probably benign |
Het |
| Rims4 |
A |
T |
2: 163,706,040 (GRCm39) |
V198E |
probably damaging |
Het |
| Ripk1 |
T |
C |
13: 34,193,733 (GRCm39) |
S32P |
probably damaging |
Het |
| Rnf13 |
T |
A |
3: 57,686,872 (GRCm39) |
N88K |
probably damaging |
Het |
| Rnf13 |
C |
A |
3: 57,714,474 (GRCm39) |
L178I |
probably damaging |
Het |
| Slc17a5 |
G |
T |
9: 78,445,584 (GRCm39) |
|
probably null |
Het |
| Sorcs1 |
A |
G |
19: 50,624,891 (GRCm39) |
|
probably benign |
Het |
| Spata31e3 |
T |
A |
13: 50,401,000 (GRCm39) |
Q442L |
probably benign |
Het |
| Srpk1 |
G |
A |
17: 28,809,218 (GRCm39) |
|
probably benign |
Het |
| Stk10 |
A |
G |
11: 32,564,708 (GRCm39) |
K840E |
probably damaging |
Het |
| Suco |
A |
G |
1: 161,689,882 (GRCm39) |
|
probably benign |
Het |
| T2 |
G |
A |
17: 8,636,007 (GRCm39) |
|
probably null |
Het |
| Tbc1d5 |
A |
G |
17: 51,226,079 (GRCm39) |
S255P |
probably damaging |
Het |
| Tenm1 |
T |
C |
X: 41,625,058 (GRCm39) |
Y2254C |
probably damaging |
Het |
| Tex9 |
T |
A |
9: 72,385,678 (GRCm39) |
K11* |
probably null |
Het |
| Tmem255a |
A |
T |
X: 37,288,523 (GRCm39) |
V278D |
probably damaging |
Het |
| Trpc3 |
T |
C |
3: 36,678,566 (GRCm39) |
I840V |
probably benign |
Het |
| Trpm3 |
G |
A |
19: 22,878,435 (GRCm39) |
R622Q |
possibly damaging |
Het |
| Vmn1r214 |
T |
A |
13: 23,219,464 (GRCm39) |
Y319* |
probably null |
Het |
| Vmn1r53 |
A |
T |
6: 90,200,700 (GRCm39) |
V208E |
probably damaging |
Het |
| Vmn2r89 |
T |
C |
14: 51,693,577 (GRCm39) |
F309S |
probably damaging |
Het |
| Xirp2 |
T |
A |
2: 67,340,253 (GRCm39) |
F831L |
possibly damaging |
Het |
| Yes1 |
G |
T |
5: 32,797,749 (GRCm39) |
E23* |
probably null |
Het |
| Zfp292 |
A |
T |
4: 34,810,059 (GRCm39) |
M995K |
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 |
|
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'- ATGCTAAGGTTGGCACTCTCACTTC -3'
(R):5'- TGATTACAGTCATGCTTTCGTCCCG -3'
Sequencing Primer
(F):5'- TATAGTACTTGCAGAGGGGCAC -3'
(R):5'- ttcagtaagttctttaacgactctc -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation