Incidental Mutation 'R3749:Tlr5'
ID |
310072 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tlr5
|
Ensembl Gene |
ENSMUSG00000079164 |
Gene Name |
toll-like receptor 5 |
Synonyms |
|
MMRRC Submission |
040734-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.285)
|
Stock # |
R3749 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
182782353-182804010 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 182802004 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 436
(I436T)
|
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: I436T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000106625 Gene: ENSMUSG00000079164 AA Change: I436T
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: I422T
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000141458 Gene: ENSMUSG00000079164 AA Change: I422T
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: I436T
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000141318 Gene: ENSMUSG00000079164 AA Change: I436T
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
|
Meta Mutation Damage Score |
0.1084 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
98% (50/51) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam12 |
T |
C |
7: 133,774,594 (GRCm39) |
D5G |
probably damaging |
Het |
Adam19 |
A |
T |
11: 46,028,437 (GRCm39) |
D690V |
probably benign |
Het |
Ankib1 |
G |
T |
5: 3,784,097 (GRCm39) |
P293Q |
probably damaging |
Het |
Arhgap19 |
T |
A |
19: 41,762,518 (GRCm39) |
E461V |
probably damaging |
Het |
Bckdk |
C |
A |
7: 127,504,590 (GRCm39) |
R105S |
probably damaging |
Het |
Bub1b |
T |
A |
2: 118,445,936 (GRCm39) |
N319K |
possibly damaging |
Het |
Ccdc40 |
T |
C |
11: 119,155,252 (GRCm39) |
V1164A |
probably benign |
Het |
Cfhr1 |
C |
A |
1: 139,485,372 (GRCm39) |
|
probably null |
Het |
Colq |
A |
T |
14: 31,271,410 (GRCm39) |
|
probably benign |
Het |
Daam1 |
C |
A |
12: 72,017,940 (GRCm39) |
D716E |
probably damaging |
Het |
Dnah17 |
T |
C |
11: 117,973,742 (GRCm39) |
S1935G |
probably benign |
Het |
Dnah8 |
A |
T |
17: 31,003,148 (GRCm39) |
K3616* |
probably null |
Het |
Faap24 |
A |
T |
7: 35,092,437 (GRCm39) |
V160D |
possibly damaging |
Het |
Gpc1 |
C |
A |
1: 92,785,304 (GRCm39) |
C414* |
probably null |
Het |
Igkv9-120 |
G |
A |
6: 68,026,985 (GRCm39) |
A7T |
probably benign |
Het |
Kcnu1 |
T |
A |
8: 26,376,798 (GRCm39) |
C391S |
probably null |
Het |
Lrba |
T |
G |
3: 86,283,260 (GRCm39) |
L1858R |
probably damaging |
Het |
Lrp10 |
A |
T |
14: 54,706,723 (GRCm39) |
N520I |
possibly damaging |
Het |
Marchf6 |
A |
G |
15: 31,462,160 (GRCm39) |
V856A |
probably benign |
Het |
Mfsd1 |
T |
C |
3: 67,490,286 (GRCm39) |
S46P |
probably benign |
Het |
Mme |
T |
A |
3: 63,250,961 (GRCm39) |
V334E |
probably damaging |
Het |
Mroh2b |
G |
A |
15: 4,981,728 (GRCm39) |
W1513* |
probably null |
Het |
Nuf2 |
T |
A |
1: 169,352,945 (GRCm39) |
N20I |
probably damaging |
Het |
Obsl1 |
T |
C |
1: 75,474,890 (GRCm39) |
T642A |
probably benign |
Het |
Olfm1 |
C |
T |
2: 28,098,100 (GRCm39) |
T54I |
probably damaging |
Het |
Or10c1 |
G |
A |
17: 37,522,691 (GRCm39) |
R18C |
possibly damaging |
Het |
Or6c3b |
C |
T |
10: 129,527,830 (GRCm39) |
V27I |
probably benign |
Het |
Osbpl7 |
T |
C |
11: 96,946,879 (GRCm39) |
V223A |
probably damaging |
Het |
Patj |
A |
G |
4: 98,357,837 (GRCm39) |
Y701C |
probably damaging |
Het |
Pkdrej |
T |
A |
15: 85,705,278 (GRCm39) |
K219N |
probably damaging |
Het |
Scn2a |
T |
G |
2: 65,544,115 (GRCm39) |
V832G |
probably damaging |
Het |
Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
Slc25a25 |
G |
T |
2: 32,310,392 (GRCm39) |
N122K |
probably benign |
Het |
Slk |
T |
G |
19: 47,608,248 (GRCm39) |
D400E |
possibly damaging |
Het |
Spon1 |
T |
C |
7: 113,365,621 (GRCm39) |
L19P |
probably damaging |
Het |
Spon1 |
T |
A |
7: 113,616,024 (GRCm39) |
V297E |
possibly damaging |
Het |
Supt16 |
A |
G |
14: 52,417,596 (GRCm39) |
L306P |
probably damaging |
Het |
Syne1 |
C |
T |
10: 5,002,267 (GRCm39) |
|
probably benign |
Het |
Tas2r136 |
A |
T |
6: 132,754,200 (GRCm39) |
F309Y |
probably damaging |
Het |
Terb1 |
T |
C |
8: 105,223,466 (GRCm39) |
D114G |
probably damaging |
Het |
Tpcn2 |
T |
C |
7: 144,809,260 (GRCm39) |
H682R |
probably damaging |
Het |
Tpi1 |
T |
A |
6: 124,789,754 (GRCm39) |
S130C |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,584,350 (GRCm39) |
H22253Y |
probably damaging |
Het |
Uggt2 |
A |
T |
14: 119,295,084 (GRCm39) |
V38E |
probably benign |
Het |
Vmn1r158 |
A |
C |
7: 22,489,639 (GRCm39) |
L190W |
probably damaging |
Het |
Vwa5b2 |
A |
G |
16: 20,417,076 (GRCm39) |
|
probably benign |
Het |
Wnt2 |
T |
C |
6: 18,023,167 (GRCm39) |
I161V |
probably benign |
Het |
Zdhhc25 |
C |
T |
15: 88,485,226 (GRCm39) |
S187L |
probably benign |
Het |
Zfhx4 |
G |
A |
3: 5,308,225 (GRCm39) |
E484K |
possibly damaging |
Het |
Zkscan1 |
T |
C |
5: 138,099,703 (GRCm39) |
S476P |
probably damaging |
Het |
Zmynd8 |
A |
G |
2: 165,647,118 (GRCm39) |
Y945H |
probably damaging |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTCTATGGGCTTCCTAGAGTAG -3'
(R):5'- AGGCCAGCTGCAGCATATTC -3'
Sequencing Primer
(F):5'- GAGTAGCCTACGTTGACCTTCAAAG -3'
(R):5'- CAGCTGCAGCATATTCTCTGTAAGG -3'
|
Posted On |
2015-04-17 |