Incidental Mutation 'R0827:Tlr4'
| ID |
78291 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tlr4
|
| Ensembl Gene |
ENSMUSG00000039005 |
| Gene Name |
toll-like receptor 4 |
| Synonyms |
Lps, lipopolysaccharide response, Rasl2-8 |
| MMRRC Submission |
039007-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0827 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
66745788-66765338 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 66752117 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102988
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048096]
[ENSMUST00000107365]
|
| AlphaFold |
Q9QUK6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000048096
|
| SMART Domains |
Protein: ENSMUSP00000045770
Gene: ENSMUSG00000039005
| 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 null
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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 93.6%
|
| 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: 86 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
T |
C |
7: 78,749,419 (GRCm39) |
S1397P |
probably benign |
Het |
| Adamts15 |
T |
C |
9: 30,832,776 (GRCm39) |
Y253C |
probably damaging |
Het |
| Ankk1 |
A |
G |
9: 49,333,037 (GRCm39) |
I149T |
possibly damaging |
Het |
| Ankrd63 |
A |
G |
2: 118,533,034 (GRCm39) |
S296P |
possibly damaging |
Het |
| Arpc1b |
T |
G |
5: 145,062,566 (GRCm39) |
C227G |
probably benign |
Het |
| B4gat1 |
A |
G |
19: 5,089,725 (GRCm39) |
R241G |
possibly damaging |
Het |
| Ccar2 |
T |
C |
14: 70,377,287 (GRCm39) |
N751D |
probably benign |
Het |
| Cd55b |
T |
C |
1: 130,341,973 (GRCm39) |
I221M |
probably damaging |
Het |
| Cntn5 |
A |
G |
9: 9,666,943 (GRCm39) |
V1032A |
possibly damaging |
Het |
| Col11a1 |
G |
A |
3: 113,932,414 (GRCm39) |
R113H |
unknown |
Het |
| Colec10 |
G |
A |
15: 54,325,980 (GRCm39) |
C270Y |
probably damaging |
Het |
| Ctnnbl1 |
C |
T |
2: 157,641,337 (GRCm39) |
|
probably benign |
Het |
| Cyp2j12 |
T |
G |
4: 96,001,099 (GRCm39) |
|
probably benign |
Het |
| Dennd5a |
G |
A |
7: 109,498,938 (GRCm39) |
T999M |
probably damaging |
Het |
| Dusp13b |
C |
A |
14: 21,792,839 (GRCm39) |
V29L |
probably benign |
Het |
| Efr3a |
A |
C |
15: 65,725,400 (GRCm39) |
D83A |
possibly damaging |
Het |
| Elmod2 |
A |
G |
8: 84,043,424 (GRCm39) |
|
probably null |
Het |
| Eml3 |
C |
A |
19: 8,915,830 (GRCm39) |
T640K |
probably damaging |
Het |
| Eps8l1 |
T |
C |
7: 4,480,388 (GRCm39) |
V543A |
possibly damaging |
Het |
| Ermn |
T |
C |
2: 57,938,263 (GRCm39) |
K117E |
probably damaging |
Het |
| F830045P16Rik |
A |
G |
2: 129,314,696 (GRCm39) |
S194P |
probably benign |
Het |
| Faim2 |
A |
G |
15: 99,422,617 (GRCm39) |
V60A |
probably benign |
Het |
| Fancd2 |
G |
A |
6: 113,563,210 (GRCm39) |
|
probably null |
Het |
| Fbxo43 |
A |
T |
15: 36,163,115 (GRCm39) |
S31T |
possibly damaging |
Het |
| Gab2 |
G |
A |
7: 96,949,539 (GRCm39) |
R411Q |
probably damaging |
Het |
| Gpm6a |
A |
T |
8: 55,511,918 (GRCm39) |
D264V |
probably damaging |
Het |
| H1f6 |
A |
G |
13: 23,880,204 (GRCm39) |
D119G |
probably benign |
Het |
| Hsp90aa1 |
T |
C |
12: 110,659,129 (GRCm39) |
E556G |
probably benign |
Het |
| Ifi203 |
A |
T |
1: 173,756,029 (GRCm39) |
|
probably benign |
Het |
| Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
| Kcnc3 |
A |
G |
7: 44,244,630 (GRCm39) |
T307A |
probably damaging |
Het |
| Kin |
C |
A |
2: 10,095,187 (GRCm39) |
|
probably benign |
Het |
| Knl1 |
T |
C |
2: 118,919,382 (GRCm39) |
|
probably benign |
Het |
| Lrp4 |
G |
A |
2: 91,325,386 (GRCm39) |
V1404M |
probably damaging |
Het |
| Lrrc71 |
T |
A |
3: 87,649,952 (GRCm39) |
|
probably null |
Het |
| Med13l |
T |
C |
5: 118,864,312 (GRCm39) |
|
probably benign |
Het |
| Mfap5 |
A |
G |
6: 122,497,879 (GRCm39) |
D39G |
probably damaging |
Het |
| Mlxipl |
T |
C |
5: 135,161,592 (GRCm39) |
S504P |
probably benign |
Het |
| Myo3a |
T |
G |
2: 22,448,227 (GRCm39) |
Y1D |
probably damaging |
Het |
| Nek1 |
A |
G |
8: 61,558,682 (GRCm39) |
|
probably benign |
Het |
| Nfkbiz |
T |
C |
16: 55,636,730 (GRCm39) |
R524G |
probably damaging |
Het |
| Npbwr1 |
T |
C |
1: 5,987,008 (GRCm39) |
T169A |
possibly damaging |
Het |
| Nuggc |
T |
C |
14: 65,846,340 (GRCm39) |
Y84H |
probably damaging |
Het |
| Nxph3 |
G |
A |
11: 95,402,252 (GRCm39) |
S54L |
probably benign |
Het |
| Or13a21 |
A |
G |
7: 139,999,380 (GRCm39) |
F102S |
probably damaging |
Het |
| Or9e1 |
T |
C |
11: 58,732,597 (GRCm39) |
I219T |
probably damaging |
Het |
| Ostn |
A |
G |
16: 27,143,381 (GRCm39) |
N70D |
probably damaging |
Het |
| Pate7 |
A |
T |
9: 35,689,147 (GRCm39) |
L12Q |
probably damaging |
Het |
| Pcdhb2 |
G |
A |
18: 37,428,710 (GRCm39) |
V228I |
possibly damaging |
Het |
| Pnpla6 |
A |
T |
8: 3,567,618 (GRCm39) |
M109L |
possibly damaging |
Het |
| Ppil6 |
T |
A |
10: 41,370,500 (GRCm39) |
|
probably benign |
Het |
| Prss46 |
A |
G |
9: 110,680,500 (GRCm39) |
N215S |
probably benign |
Het |
| Ptprd |
A |
T |
4: 76,047,152 (GRCm39) |
D371E |
probably damaging |
Het |
| Ripor2 |
T |
A |
13: 24,878,169 (GRCm39) |
F315I |
probably damaging |
Het |
| Rmi2 |
G |
A |
16: 10,653,104 (GRCm39) |
G51S |
probably damaging |
Het |
| Scg3 |
A |
G |
9: 75,590,979 (GRCm39) |
I10T |
possibly damaging |
Het |
| Scn9a |
T |
A |
2: 66,366,468 (GRCm39) |
K761* |
probably null |
Het |
| Scyl2 |
A |
G |
10: 89,493,727 (GRCm39) |
L347P |
possibly damaging |
Het |
| Sh3d21 |
A |
G |
4: 126,046,064 (GRCm39) |
|
probably benign |
Het |
| Shc1 |
T |
A |
3: 89,334,090 (GRCm39) |
|
probably null |
Het |
| Slbp |
A |
G |
5: 33,801,166 (GRCm39) |
S182P |
probably damaging |
Het |
| Slc24a1 |
C |
T |
9: 64,835,472 (GRCm39) |
G885D |
probably benign |
Het |
| Slc24a3 |
T |
C |
2: 145,360,412 (GRCm39) |
|
probably benign |
Het |
| Sowahb |
T |
G |
5: 93,191,145 (GRCm39) |
N525H |
probably damaging |
Het |
| Sppl3 |
T |
A |
5: 115,220,392 (GRCm39) |
C101* |
probably null |
Het |
| Srsf5 |
A |
G |
12: 80,996,314 (GRCm39) |
K163E |
probably damaging |
Het |
| Sult2a4 |
A |
G |
7: 13,718,886 (GRCm39) |
I119T |
probably benign |
Het |
| Svep1 |
A |
G |
4: 58,053,113 (GRCm39) |
|
probably benign |
Het |
| Tas1r3 |
G |
A |
4: 155,945,326 (GRCm39) |
R632W |
probably benign |
Het |
| Tmf1 |
A |
C |
6: 97,135,011 (GRCm39) |
L1001* |
probably null |
Het |
| Tnnt2 |
A |
G |
1: 135,771,534 (GRCm39) |
|
probably benign |
Het |
| Trank1 |
G |
A |
9: 111,178,485 (GRCm39) |
|
probably benign |
Het |
| Trdn |
A |
T |
10: 33,275,154 (GRCm39) |
|
probably benign |
Het |
| Trmt6 |
A |
T |
2: 132,657,754 (GRCm39) |
V34E |
probably damaging |
Het |
| Trrap |
T |
C |
5: 144,751,640 (GRCm39) |
F1699L |
probably benign |
Het |
| Ttk |
A |
G |
9: 83,725,968 (GRCm39) |
R250G |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,640,248 (GRCm39) |
I13787F |
probably damaging |
Het |
| Uggt1 |
T |
A |
1: 36,195,394 (GRCm39) |
|
probably null |
Het |
| Ugt2b35 |
T |
A |
5: 87,155,989 (GRCm39) |
|
probably benign |
Het |
| Ugt2b36 |
C |
A |
5: 87,214,234 (GRCm39) |
R470L |
possibly damaging |
Het |
| Unk |
A |
G |
11: 115,943,935 (GRCm39) |
D352G |
possibly damaging |
Het |
| Vmn2r77 |
G |
T |
7: 86,451,224 (GRCm39) |
C370F |
probably damaging |
Het |
| Vmn2r85 |
A |
G |
10: 130,265,387 (GRCm39) |
I32T |
possibly damaging |
Het |
| Zfp637 |
A |
G |
6: 117,822,405 (GRCm39) |
I178V |
possibly damaging |
Het |
| Zfp943 |
A |
G |
17: 22,211,071 (GRCm39) |
|
probably null |
Het |
| Zyg11a |
A |
G |
4: 108,067,239 (GRCm39) |
|
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 |
|
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'- GAATGGCAGGTATTTTGGGAGTCCAAT -3'
(R):5'- TTCTTATCTAGTGGCCCATCCAACTGA -3'
Sequencing Primer
(F):5'- GTATAGCTAATTTAAGGCCAGACTG -3'
(R):5'- CAGCAAGTTGTAGCACTACTG -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation