Incidental Mutation 'IGL01480:Tlr5'
ID |
88567 |
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 # |
IGL01480
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
182782353-182804010 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 182801064 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 123
(E123K)
|
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: E123K
PolyPhen 2
Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000106625 Gene: ENSMUSG00000079164 AA Change: E123K
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: E109K
PolyPhen 2
Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000141458 Gene: ENSMUSG00000079164 AA Change: E109K
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: E123K
PolyPhen 2
Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000141318 Gene: ENSMUSG00000079164 AA Change: E123K
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: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adck1 |
T |
A |
12: 88,423,635 (GRCm39) |
C379* |
probably null |
Het |
Ankrd10 |
A |
G |
8: 11,685,592 (GRCm39) |
V9A |
probably benign |
Het |
Ankrd13a |
A |
T |
5: 114,938,879 (GRCm39) |
|
probably benign |
Het |
Bbs1 |
T |
C |
19: 4,944,421 (GRCm39) |
K403E |
probably damaging |
Het |
Ccn3 |
A |
G |
15: 54,615,687 (GRCm39) |
Y284C |
probably damaging |
Het |
Cd200r2 |
A |
G |
16: 44,729,629 (GRCm39) |
I95V |
probably null |
Het |
Cyba |
T |
C |
8: 123,151,684 (GRCm39) |
E171G |
probably benign |
Het |
Dnah2 |
T |
A |
11: 69,349,197 (GRCm39) |
M2480L |
possibly damaging |
Het |
Fxyd7 |
A |
T |
7: 30,746,799 (GRCm39) |
Y20* |
probably null |
Het |
Il22ra1 |
T |
C |
4: 135,472,112 (GRCm39) |
V216A |
probably benign |
Het |
Mapk10 |
G |
A |
5: 103,074,018 (GRCm39) |
|
probably benign |
Het |
Mgat5b |
C |
A |
11: 116,869,278 (GRCm39) |
T607K |
probably benign |
Het |
Optn |
G |
A |
2: 5,050,829 (GRCm39) |
S184L |
probably benign |
Het |
Or10d5 |
G |
A |
9: 39,861,284 (GRCm39) |
A261V |
probably benign |
Het |
Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
Or1p1c |
A |
T |
11: 74,160,427 (GRCm39) |
I71L |
possibly damaging |
Het |
Or7a42 |
T |
C |
10: 78,791,978 (GRCm39) |
|
probably benign |
Het |
Plxna1 |
A |
G |
6: 89,321,078 (GRCm39) |
L462P |
possibly damaging |
Het |
Prkca |
C |
T |
11: 108,083,027 (GRCm39) |
V73M |
probably damaging |
Het |
Prkca |
A |
G |
11: 107,877,115 (GRCm39) |
F339L |
possibly damaging |
Het |
Ptch2 |
T |
C |
4: 116,971,279 (GRCm39) |
V1062A |
probably damaging |
Het |
Serpina11 |
T |
A |
12: 103,949,110 (GRCm39) |
K354* |
probably null |
Het |
Sf1 |
T |
C |
19: 6,422,052 (GRCm39) |
|
probably benign |
Het |
Stam2 |
A |
G |
2: 52,606,451 (GRCm39) |
S112P |
probably benign |
Het |
Tpp1 |
T |
C |
7: 105,398,260 (GRCm39) |
E301G |
probably damaging |
Het |
Vmn2r58 |
T |
A |
7: 41,514,116 (GRCm39) |
I176F |
probably benign |
Het |
|
Other mutations in Tlr5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00479:Tlr5
|
APN |
1 |
182,801,394 (GRCm39) |
missense |
probably benign |
|
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 |
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 |
2013-11-18 |