Incidental Mutation 'IGL02244:Tlr4'
| ID |
286123 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tlr4
|
| Ensembl Gene |
ENSMUSG00000039005 |
| Gene Name |
toll-like receptor 4 |
| Synonyms |
Lps, lipopolysaccharide response, Rasl2-8 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02244
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
66745788-66765338 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 66752298 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
G |
T |
16: 90,853,085 (GRCm39) |
T17K |
probably benign |
Het |
| Agbl1 |
T |
C |
7: 76,416,120 (GRCm39) |
S714P |
probably damaging |
Het |
| Araf |
A |
G |
X: 20,719,835 (GRCm39) |
|
probably benign |
Het |
| Armc3 |
G |
A |
2: 19,290,948 (GRCm39) |
|
probably null |
Het |
| Armc8 |
A |
T |
9: 99,365,227 (GRCm39) |
D638E |
probably benign |
Het |
| Bpifb5 |
C |
T |
2: 154,067,068 (GRCm39) |
T107I |
possibly damaging |
Het |
| Ces1e |
A |
C |
8: 93,938,977 (GRCm39) |
|
probably null |
Het |
| Col4a3 |
C |
A |
1: 82,647,492 (GRCm39) |
|
probably benign |
Het |
| Col4a5 |
A |
G |
X: 140,382,669 (GRCm39) |
|
probably benign |
Het |
| Crocc |
T |
C |
4: 140,765,231 (GRCm39) |
H477R |
probably benign |
Het |
| Dgkd |
C |
A |
1: 87,842,863 (GRCm39) |
N130K |
probably benign |
Het |
| Dock1 |
C |
T |
7: 134,379,174 (GRCm39) |
Q634* |
probably null |
Het |
| Dzip3 |
C |
T |
16: 48,801,351 (GRCm39) |
V58I |
probably benign |
Het |
| Fndc3a |
A |
G |
14: 72,793,807 (GRCm39) |
|
probably benign |
Het |
| Glp2r |
C |
T |
11: 67,612,817 (GRCm39) |
R379H |
probably damaging |
Het |
| Kctd12b |
T |
A |
X: 152,472,330 (GRCm39) |
M120L |
probably benign |
Het |
| Krt33b |
A |
G |
11: 99,916,189 (GRCm39) |
V258A |
probably benign |
Het |
| Lpin1 |
T |
A |
12: 16,591,770 (GRCm39) |
N819I |
probably damaging |
Het |
| Lurap1l |
T |
C |
4: 80,871,866 (GRCm39) |
S120P |
probably damaging |
Het |
| Lysmd4 |
T |
C |
7: 66,875,672 (GRCm39) |
S112P |
probably damaging |
Het |
| Myo1e |
A |
G |
9: 70,274,971 (GRCm39) |
K708R |
probably benign |
Het |
| Nr3c1 |
T |
A |
18: 39,554,610 (GRCm39) |
|
probably benign |
Het |
| Nup62cl |
G |
T |
X: 138,922,780 (GRCm39) |
N239K |
probably benign |
Het |
| Nwd1 |
A |
T |
8: 73,434,210 (GRCm39) |
E1269V |
probably damaging |
Het |
| Or52e7 |
C |
T |
7: 104,685,152 (GRCm39) |
T249M |
probably damaging |
Het |
| Pcdh9 |
A |
C |
14: 93,564,204 (GRCm39) |
L1084R |
probably damaging |
Het |
| Plxnd1 |
A |
G |
6: 115,955,218 (GRCm39) |
M543T |
probably benign |
Het |
| Prss53 |
T |
A |
7: 127,487,964 (GRCm39) |
T173S |
possibly damaging |
Het |
| Reep2 |
C |
A |
18: 34,973,807 (GRCm39) |
|
probably benign |
Het |
| Rp1 |
T |
C |
1: 4,419,003 (GRCm39) |
D703G |
probably benign |
Het |
| Sbf2 |
T |
G |
7: 110,159,502 (GRCm39) |
D36A |
probably damaging |
Het |
| Sh3kbp1 |
C |
T |
X: 158,586,724 (GRCm39) |
R99W |
probably damaging |
Het |
| Sis |
T |
A |
3: 72,863,523 (GRCm39) |
R238S |
probably benign |
Het |
| Slc35e2 |
T |
A |
4: 155,703,019 (GRCm39) |
V344D |
probably damaging |
Het |
| Specc1 |
G |
A |
11: 62,019,194 (GRCm39) |
V678I |
probably benign |
Het |
| Supt6 |
T |
C |
11: 78,123,623 (GRCm39) |
D49G |
possibly damaging |
Het |
| Tecpr1 |
G |
A |
5: 144,146,821 (GRCm39) |
A515V |
probably benign |
Het |
| Tmco5b |
A |
G |
2: 113,118,619 (GRCm39) |
E114G |
probably damaging |
Het |
| Tspear |
A |
T |
10: 77,688,690 (GRCm39) |
|
probably benign |
Het |
| Txlnb |
T |
A |
10: 17,719,116 (GRCm39) |
V649E |
probably benign |
Het |
| Utp20 |
A |
G |
10: 88,651,818 (GRCm39) |
|
probably benign |
Het |
| Virma |
G |
A |
4: 11,546,031 (GRCm39) |
R1673Q |
probably damaging |
Het |
| Vmn2r70 |
T |
A |
7: 85,214,211 (GRCm39) |
T314S |
probably benign |
Het |
| Zfp938 |
G |
T |
10: 82,061,906 (GRCm39) |
T238K |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation