Incidental Mutation 'IGL00479:Tlr5'
| ID |
7308 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tlr5
|
| Ensembl Gene |
ENSMUSG00000079164 |
| Gene Name |
toll-like receptor 5 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.285)
|
| Stock # |
IGL00479
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
182782353-182804010 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 182801394 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 233
(T233A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141318
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110997]
[ENSMUST00000191820]
[ENSMUST00000193687]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110997
AA Change: T233A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106625
Gene: ENSMUSG00000079164
AA Change: T233A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
83 |
92 |
N/A |
INTRINSIC |
|
LRR_TYP
|
109 |
132 |
3.11e-2 |
SMART |
|
LRR
|
159 |
183 |
5.56e0 |
SMART |
|
LRR
|
184 |
207 |
1.97e2 |
SMART |
|
low complexity region
|
262 |
275 |
N/A |
INTRINSIC |
|
LRR
|
326 |
349 |
7.05e-1 |
SMART |
|
LRR
|
350 |
373 |
2.92e1 |
SMART |
|
LRR
|
374 |
397 |
2.54e1 |
SMART |
|
LRR
|
398 |
418 |
1.29e2 |
SMART |
|
low complexity region
|
441 |
456 |
N/A |
INTRINSIC |
|
LRR_TYP
|
516 |
539 |
1.06e-4 |
SMART |
|
LRR
|
540 |
563 |
6.13e-1 |
SMART |
|
LRR
|
564 |
585 |
2.21e2 |
SMART |
|
LRRCT
|
594 |
645 |
7.01e-6 |
SMART |
|
low complexity region
|
657 |
676 |
N/A |
INTRINSIC |
|
TIR
|
707 |
852 |
3.89e-25 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191820
AA Change: T219A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000141458
Gene: ENSMUSG00000079164
AA Change: T219A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
69 |
78 |
N/A |
INTRINSIC |
|
LRR_TYP
|
95 |
118 |
1.3e-4 |
SMART |
|
LRR
|
145 |
169 |
2.3e-2 |
SMART |
|
LRR
|
170 |
193 |
8.2e-1 |
SMART |
|
low complexity region
|
248 |
261 |
N/A |
INTRINSIC |
|
LRR
|
312 |
335 |
2.9e-3 |
SMART |
|
LRR
|
336 |
359 |
1.2e-1 |
SMART |
|
LRR
|
360 |
383 |
1.1e-1 |
SMART |
|
LRR
|
384 |
404 |
5.4e-1 |
SMART |
|
low complexity region
|
427 |
442 |
N/A |
INTRINSIC |
|
LRR_TYP
|
502 |
525 |
4.5e-7 |
SMART |
|
LRR
|
526 |
549 |
2.5e-3 |
SMART |
|
LRR
|
550 |
571 |
9.4e-1 |
SMART |
|
LRRCT
|
580 |
631 |
3.4e-8 |
SMART |
|
transmembrane domain
|
642 |
664 |
N/A |
INTRINSIC |
|
TIR
|
693 |
838 |
2.5e-27 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193539
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193687
AA Change: T233A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000141318
Gene: ENSMUSG00000079164
AA Change: T233A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
83 |
92 |
N/A |
INTRINSIC |
|
LRR_TYP
|
109 |
132 |
1.3e-4 |
SMART |
|
LRR
|
159 |
183 |
2.3e-2 |
SMART |
|
LRR
|
184 |
207 |
8.2e-1 |
SMART |
|
low complexity region
|
262 |
275 |
N/A |
INTRINSIC |
|
LRR
|
326 |
349 |
2.9e-3 |
SMART |
|
LRR
|
350 |
373 |
1.2e-1 |
SMART |
|
LRR
|
374 |
397 |
1.1e-1 |
SMART |
|
LRR
|
398 |
418 |
5.4e-1 |
SMART |
|
low complexity region
|
441 |
456 |
N/A |
INTRINSIC |
|
LRR_TYP
|
516 |
539 |
4.5e-7 |
SMART |
|
LRR
|
540 |
563 |
2.5e-3 |
SMART |
|
LRR
|
564 |
585 |
9.4e-1 |
SMART |
|
LRRCT
|
594 |
645 |
3.4e-8 |
SMART |
|
transmembrane domain
|
656 |
678 |
N/A |
INTRINSIC |
|
TIR
|
707 |
852 |
2.5e-27 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195603
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195614
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the toll-like receptor (TLR) family, which plays a fundamental role in pathogen recognition and activation of innate immune responses. These receptors recognize distinct pathogen-associated molecular patterns that are expressed on infectious agents. The protein encoded by this gene recognizes bacterial flagellin, the principal component of bacterial flagella and a virulence factor. The activation of this receptor mobilizes the nuclear factor NF-kappaB, which in turn activates a host of inflammatory-related target genes. Mutations in this gene have been associated with both resistance and susceptibility to systemic lupus erythematosus, and susceptibility to Legionnaire disease.[provided by RefSeq, Dec 2009]
PHENOTYPE: Mice homozygous for disruption of this gene have a generally normal phenotype. However they fail to respond immunologically to purified flagellin and are resistant to infection with Salmonella typhimurium. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agrn |
A |
C |
4: 156,255,029 (GRCm39) |
|
probably benign |
Het |
| Antkmt |
A |
G |
17: 26,010,418 (GRCm39) |
Y104H |
probably damaging |
Het |
| Arid4a |
A |
G |
12: 71,119,367 (GRCm39) |
K651E |
probably damaging |
Het |
| Atpaf2 |
A |
T |
11: 60,300,410 (GRCm39) |
|
probably null |
Het |
| Cd177 |
G |
T |
7: 24,457,440 (GRCm39) |
S200R |
probably benign |
Het |
| Cd209g |
A |
T |
8: 4,185,622 (GRCm39) |
T19S |
probably benign |
Het |
| Cxcr4 |
A |
G |
1: 128,516,792 (GRCm39) |
W290R |
probably damaging |
Het |
| D930020B18Rik |
T |
C |
10: 121,521,489 (GRCm39) |
L491P |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,458,843 (GRCm39) |
D3765G |
probably damaging |
Het |
| Dpy19l4 |
T |
G |
4: 11,290,411 (GRCm39) |
M327L |
probably benign |
Het |
| Eya3 |
G |
A |
4: 132,431,709 (GRCm39) |
G314D |
probably damaging |
Het |
| Fmo1 |
G |
A |
1: 162,657,632 (GRCm39) |
T503I |
probably benign |
Het |
| Galnt3 |
A |
G |
2: 65,925,628 (GRCm39) |
S370P |
probably damaging |
Het |
| Gm5431 |
A |
T |
11: 48,786,241 (GRCm39) |
S45T |
probably benign |
Het |
| Gnai3 |
A |
G |
3: 108,023,073 (GRCm39) |
|
probably benign |
Het |
| Gpat2 |
A |
G |
2: 127,276,381 (GRCm39) |
E637G |
probably damaging |
Het |
| Gpr84 |
T |
C |
15: 103,217,834 (GRCm39) |
Y81C |
probably damaging |
Het |
| Hnmt |
A |
T |
2: 23,893,896 (GRCm39) |
Y199* |
probably null |
Het |
| Homer1 |
G |
T |
13: 93,483,156 (GRCm39) |
R81L |
probably damaging |
Het |
| Hspa4 |
A |
T |
11: 53,171,544 (GRCm39) |
|
probably null |
Het |
| Marchf6 |
A |
G |
15: 31,475,909 (GRCm39) |
I649T |
probably benign |
Het |
| Mcm8 |
A |
G |
2: 132,659,094 (GRCm39) |
N26S |
probably benign |
Het |
| Mgat5 |
T |
C |
1: 127,315,204 (GRCm39) |
L310P |
probably damaging |
Het |
| Pah |
T |
C |
10: 87,414,755 (GRCm39) |
L369P |
probably benign |
Het |
| Parp4 |
A |
C |
14: 56,853,917 (GRCm39) |
K844N |
possibly damaging |
Het |
| Tsnaxip1 |
A |
G |
8: 106,568,055 (GRCm39) |
T274A |
probably benign |
Het |
| Wdr48 |
A |
G |
9: 119,734,456 (GRCm39) |
Y125C |
probably damaging |
Het |
|
| Other mutations in Tlr5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00940:Tlr5
|
APN |
1 |
182,801,761 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL01302:Tlr5
|
APN |
1 |
182,802,313 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01480:Tlr5
|
APN |
1 |
182,801,064 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01717:Tlr5
|
APN |
1 |
182,802,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01896:Tlr5
|
APN |
1 |
182,802,444 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL02083:Tlr5
|
APN |
1 |
182,801,449 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02135:Tlr5
|
APN |
1 |
182,800,819 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0464:Tlr5
|
UTSW |
1 |
182,801,275 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0552:Tlr5
|
UTSW |
1 |
182,803,261 (GRCm39) |
splice site |
probably null |
|
|
R0556:Tlr5
|
UTSW |
1 |
182,801,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0639:Tlr5
|
UTSW |
1 |
182,801,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0670:Tlr5
|
UTSW |
1 |
182,801,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1014:Tlr5
|
UTSW |
1 |
182,803,242 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1125:Tlr5
|
UTSW |
1 |
182,801,457 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1563:Tlr5
|
UTSW |
1 |
182,802,575 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1775:Tlr5
|
UTSW |
1 |
182,801,287 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1793:Tlr5
|
UTSW |
1 |
182,800,012 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1991:Tlr5
|
UTSW |
1 |
182,801,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1992:Tlr5
|
UTSW |
1 |
182,801,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2114:Tlr5
|
UTSW |
1 |
182,803,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2116:Tlr5
|
UTSW |
1 |
182,803,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2225:Tlr5
|
UTSW |
1 |
182,799,941 (GRCm39) |
start gained |
probably benign |
|
|
R2265:Tlr5
|
UTSW |
1 |
182,802,600 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2266:Tlr5
|
UTSW |
1 |
182,802,600 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2268:Tlr5
|
UTSW |
1 |
182,802,600 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2882:Tlr5
|
UTSW |
1 |
182,801,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3695:Tlr5
|
UTSW |
1 |
182,802,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3747:Tlr5
|
UTSW |
1 |
182,802,004 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3749:Tlr5
|
UTSW |
1 |
182,802,004 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4084:Tlr5
|
UTSW |
1 |
182,802,413 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4794:Tlr5
|
UTSW |
1 |
182,801,461 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4895:Tlr5
|
UTSW |
1 |
182,801,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4964:Tlr5
|
UTSW |
1 |
182,801,038 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4966:Tlr5
|
UTSW |
1 |
182,801,038 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5496:Tlr5
|
UTSW |
1 |
182,801,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6056:Tlr5
|
UTSW |
1 |
182,801,603 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6715:Tlr5
|
UTSW |
1 |
182,800,224 (GRCm39) |
intron |
probably benign |
|
|
R6825:Tlr5
|
UTSW |
1 |
182,800,609 (GRCm39) |
intron |
probably benign |
|
|
R6961:Tlr5
|
UTSW |
1 |
182,801,076 (GRCm39) |
nonsense |
probably null |
|
|
R7135:Tlr5
|
UTSW |
1 |
182,803,088 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7232:Tlr5
|
UTSW |
1 |
182,801,064 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7255:Tlr5
|
UTSW |
1 |
182,801,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7257:Tlr5
|
UTSW |
1 |
182,801,798 (GRCm39) |
nonsense |
probably null |
|
|
R8887:Tlr5
|
UTSW |
1 |
182,801,332 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9116:Tlr5
|
UTSW |
1 |
182,802,160 (GRCm39) |
missense |
probably benign |
|
|
R9224:Tlr5
|
UTSW |
1 |
182,802,693 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9284:Tlr5
|
UTSW |
1 |
182,801,377 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Tlr5
|
UTSW |
1 |
182,801,382 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2012-04-20 |
Incidental Mutation