Incidental Mutation 'R7638:Tlr4'
| ID |
590047 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tlr4
|
| Ensembl Gene |
ENSMUSG00000039005 |
| Gene Name |
toll-like receptor 4 |
| Synonyms |
Lps, lipopolysaccharide response, Rasl2-8 |
| MMRRC Submission |
045696-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7638 (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 A
at 66758443 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 412
(M412K)
|
| 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: M412K
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000045770
Gene: ENSMUSG00000039005
AA Change: M412K
| 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 |
0.3105 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (71/71) |
| 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 |
|---|
| Abo |
T |
G |
2: 26,733,855 (GRCm39) |
T115P |
probably damaging |
Het |
| Aggf1 |
G |
A |
13: 95,492,921 (GRCm39) |
R563* |
probably null |
Het |
| Amdhd1 |
A |
T |
10: 93,370,360 (GRCm39) |
Y159* |
probably null |
Het |
| Camp |
T |
C |
9: 109,677,461 (GRCm39) |
E124G |
|
Het |
| Casq2 |
A |
G |
3: 101,994,016 (GRCm39) |
E21G |
possibly damaging |
Het |
| Cbln1 |
A |
T |
8: 88,198,357 (GRCm39) |
F116Y |
probably damaging |
Het |
| Cklf |
A |
T |
8: 104,989,996 (GRCm39) |
K143* |
probably null |
Het |
| Clca3a1 |
A |
G |
3: 144,457,723 (GRCm39) |
I387T |
probably damaging |
Het |
| Cndp1 |
T |
A |
18: 84,654,174 (GRCm39) |
D130V |
probably benign |
Het |
| Cyp4a12a |
T |
A |
4: 115,184,670 (GRCm39) |
M317K |
possibly damaging |
Het |
| Dmxl2 |
A |
T |
9: 54,365,078 (GRCm39) |
I138K |
unknown |
Het |
| Eapp |
A |
G |
12: 54,720,508 (GRCm39) |
S236P |
probably benign |
Het |
| Efcab3 |
T |
A |
11: 104,927,625 (GRCm39) |
M4798K |
probably benign |
Het |
| Efnb3 |
T |
C |
11: 69,448,046 (GRCm39) |
H132R |
possibly damaging |
Het |
| Fam243 |
A |
G |
16: 92,117,805 (GRCm39) |
V161A |
probably damaging |
Het |
| Fbn2 |
A |
T |
18: 58,238,208 (GRCm39) |
N596K |
probably damaging |
Het |
| Fzd9 |
A |
G |
5: 135,279,484 (GRCm39) |
W134R |
probably damaging |
Het |
| Gga2 |
A |
G |
7: 121,603,157 (GRCm39) |
S180P |
probably damaging |
Het |
| Golga3 |
A |
G |
5: 110,353,694 (GRCm39) |
T911A |
probably benign |
Het |
| Gstm1 |
C |
T |
3: 107,921,866 (GRCm39) |
|
probably null |
Het |
| Heg1 |
A |
G |
16: 33,547,867 (GRCm39) |
T909A |
probably damaging |
Het |
| Herc2 |
T |
C |
7: 55,807,186 (GRCm39) |
S2455P |
probably benign |
Het |
| Herc2 |
C |
T |
7: 55,870,273 (GRCm39) |
R4349W |
probably damaging |
Het |
| Hivep2 |
T |
G |
10: 14,019,595 (GRCm39) |
M2122R |
possibly damaging |
Het |
| Itga10 |
T |
A |
3: 96,564,707 (GRCm39) |
|
probably null |
Het |
| Kbtbd13 |
G |
T |
9: 65,298,605 (GRCm39) |
C110* |
probably null |
Het |
| Krt78 |
T |
C |
15: 101,859,318 (GRCm39) |
E293G |
probably damaging |
Het |
| Lgals3bp |
C |
T |
11: 118,288,995 (GRCm39) |
V110M |
possibly damaging |
Het |
| Lrp2 |
A |
G |
2: 69,307,352 (GRCm39) |
|
probably null |
Het |
| Lrrc14 |
A |
G |
15: 76,598,173 (GRCm39) |
D301G |
probably benign |
Het |
| Lrrc71 |
C |
A |
3: 87,649,113 (GRCm39) |
G352W |
probably damaging |
Het |
| Map3k9 |
A |
G |
12: 81,771,506 (GRCm39) |
V694A |
probably benign |
Het |
| Mboat2 |
T |
C |
12: 24,989,325 (GRCm39) |
S162P |
probably damaging |
Het |
| Megf11 |
C |
A |
9: 64,586,535 (GRCm39) |
N422K |
probably damaging |
Het |
| Miga1 |
C |
T |
3: 151,982,324 (GRCm39) |
S584N |
probably benign |
Het |
| Mindy2 |
A |
G |
9: 70,524,141 (GRCm39) |
Y403H |
probably damaging |
Het |
| Mmd |
C |
T |
11: 90,167,583 (GRCm39) |
A204V |
possibly damaging |
Het |
| Mta3 |
A |
T |
17: 84,107,572 (GRCm39) |
Y262F |
probably benign |
Het |
| Ncoa7 |
G |
A |
10: 30,598,794 (GRCm39) |
S43F |
probably benign |
Het |
| Nhsl3 |
T |
C |
4: 129,115,734 (GRCm39) |
T1022A |
probably benign |
Het |
| Nphp4 |
T |
C |
4: 152,638,991 (GRCm39) |
V874A |
probably benign |
Het |
| Nsd1 |
A |
G |
13: 55,460,141 (GRCm39) |
T2226A |
probably benign |
Het |
| Nt5dc1 |
T |
C |
10: 34,190,792 (GRCm39) |
H302R |
probably benign |
Het |
| Odc1 |
A |
G |
12: 17,600,003 (GRCm39) |
Y389C |
probably damaging |
Het |
| Or52p2 |
A |
G |
7: 102,237,125 (GRCm39) |
I275T |
probably damaging |
Het |
| Or5k8 |
G |
A |
16: 58,644,958 (GRCm39) |
T38I |
probably damaging |
Het |
| Or8g37 |
T |
G |
9: 39,731,189 (GRCm39) |
F85V |
probably damaging |
Het |
| Pcare |
T |
C |
17: 72,057,880 (GRCm39) |
D599G |
probably damaging |
Het |
| Pcdhb10 |
A |
C |
18: 37,545,365 (GRCm39) |
Q147P |
probably benign |
Het |
| Pdcl2 |
A |
C |
5: 76,465,675 (GRCm39) |
C182G |
probably damaging |
Het |
| Pigv |
T |
C |
4: 133,392,762 (GRCm39) |
D136G |
possibly damaging |
Het |
| Polr1h |
A |
C |
17: 37,268,722 (GRCm39) |
|
probably null |
Het |
| Pramel5 |
T |
C |
4: 143,998,010 (GRCm39) |
E411G |
possibly damaging |
Het |
| Prkce |
T |
C |
17: 86,476,028 (GRCm39) |
V3A |
probably benign |
Het |
| Pth1r |
T |
C |
9: 110,551,461 (GRCm39) |
N546S |
probably benign |
Het |
| Qrich2 |
C |
T |
11: 116,346,148 (GRCm39) |
V1559I |
probably benign |
Het |
| Rbm20 |
A |
C |
19: 53,802,764 (GRCm39) |
D424A |
possibly damaging |
Het |
| Rbm26 |
C |
T |
14: 105,388,284 (GRCm39) |
D393N |
probably damaging |
Het |
| Sf3b3 |
G |
A |
8: 111,547,445 (GRCm39) |
R728C |
probably damaging |
Het |
| Spata31e1 |
G |
T |
13: 49,940,451 (GRCm39) |
Q420K |
probably benign |
Het |
| Srcap |
A |
G |
7: 127,137,920 (GRCm39) |
N1090S |
probably benign |
Het |
| Syt4 |
A |
T |
18: 31,576,875 (GRCm39) |
S160T |
probably benign |
Het |
| Tcstv6 |
A |
T |
13: 120,304,224 (GRCm39) |
|
probably null |
Het |
| Tfap2e |
C |
T |
4: 126,615,727 (GRCm39) |
V236M |
probably damaging |
Het |
| Thsd4 |
G |
A |
9: 60,301,755 (GRCm39) |
T180M |
probably damaging |
Het |
| Tmem67 |
T |
A |
4: 12,079,883 (GRCm39) |
H136L |
probably benign |
Het |
| Tnpo2 |
T |
A |
8: 85,771,044 (GRCm39) |
I110N |
probably benign |
Het |
| Trav13d-3 |
A |
G |
14: 53,270,870 (GRCm39) |
M111V |
probably benign |
Het |
| Tubb3 |
A |
T |
8: 124,147,900 (GRCm39) |
S278C |
probably benign |
Het |
| Ugcg |
T |
A |
4: 59,220,299 (GRCm39) |
F364Y |
probably benign |
Het |
| Usp17lc |
T |
C |
7: 103,067,706 (GRCm39) |
S334P |
probably damaging |
Het |
| Vps13c |
A |
G |
9: 67,852,791 (GRCm39) |
D2357G |
probably damaging |
Het |
| Zfp157 |
T |
C |
5: 138,454,172 (GRCm39) |
Y125H |
probably benign |
Het |
| Zfp747 |
A |
T |
7: 126,973,819 (GRCm39) |
M117K |
probably benign |
Het |
| Zscan4c |
A |
T |
7: 10,743,658 (GRCm39) |
N419I |
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 |
|
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 |
|
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'- AACTTAAGCAGTTTCCAACTCTGG -3'
(R):5'- TGTTGAGACTGGTCAAGCC -3'
Sequencing Primer
(F):5'- ACTCTGGATCTACCCTTTCTTAAAAG -3'
(R):5'- TGGTCAAGCCAAGAAATATACCATCG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation