Incidental Mutation 'IGL01302:Tlr5'
| ID |
73264 |
| 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: 0.265)
|
| Stock # |
IGL01302
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
182782353-182804010 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 182802313 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 525
(D525G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141458
(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: D539G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106625
Gene: ENSMUSG00000079164
AA Change: D539G
| 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: D525G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000141458
Gene: ENSMUSG00000079164
AA Change: D525G
| 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: D539G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000141318
Gene: ENSMUSG00000079164
AA Change: D539G
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,349,470 (GRCm39) |
|
probably benign |
Het |
| Abcb5 |
T |
A |
12: 118,881,935 (GRCm39) |
D598V |
probably damaging |
Het |
| Adss1 |
T |
C |
12: 112,601,170 (GRCm39) |
|
probably benign |
Het |
| Akap9 |
T |
A |
5: 4,020,711 (GRCm39) |
S1141T |
probably benign |
Het |
| Avil |
T |
C |
10: 126,852,903 (GRCm39) |
|
probably null |
Het |
| Avl9 |
C |
A |
6: 56,702,075 (GRCm39) |
H77N |
probably damaging |
Het |
| Cacna1e |
A |
G |
1: 154,319,653 (GRCm39) |
V1349A |
probably damaging |
Het |
| Cdc23 |
A |
C |
18: 34,767,697 (GRCm39) |
S483A |
probably benign |
Het |
| Cep192 |
C |
T |
18: 67,991,974 (GRCm39) |
P1951S |
probably benign |
Het |
| Cp |
A |
G |
3: 20,020,531 (GRCm39) |
T175A |
probably damaging |
Het |
| Dubr |
A |
C |
16: 50,552,998 (GRCm39) |
|
noncoding transcript |
Het |
| Eif4g2 |
G |
T |
7: 110,673,920 (GRCm39) |
Q695K |
possibly damaging |
Het |
| Endod1 |
A |
T |
9: 14,268,535 (GRCm39) |
S317T |
possibly damaging |
Het |
| Ep400 |
T |
C |
5: 110,889,914 (GRCm39) |
T450A |
probably benign |
Het |
| Erc1 |
A |
C |
6: 119,699,264 (GRCm39) |
V790G |
probably damaging |
Het |
| Fam222a |
T |
A |
5: 114,732,514 (GRCm39) |
L23Q |
possibly damaging |
Het |
| Fancf |
A |
G |
7: 51,511,035 (GRCm39) |
V323A |
probably benign |
Het |
| Grik2 |
T |
A |
10: 49,120,426 (GRCm39) |
Q621L |
probably damaging |
Het |
| Gsk3b |
G |
T |
16: 38,040,380 (GRCm39) |
R319L |
probably benign |
Het |
| Ikzf1 |
A |
G |
11: 11,718,923 (GRCm39) |
Y297C |
probably damaging |
Het |
| Katnal2 |
T |
C |
18: 77,134,863 (GRCm39) |
|
probably benign |
Het |
| Lrba |
G |
T |
3: 86,202,707 (GRCm39) |
C289F |
probably damaging |
Het |
| Mos |
T |
C |
4: 3,871,815 (GRCm39) |
|
probably benign |
Het |
| Mycn |
T |
C |
12: 12,987,587 (GRCm39) |
D270G |
possibly damaging |
Het |
| Or52e15 |
A |
T |
7: 104,645,928 (GRCm39) |
M61K |
probably damaging |
Het |
| Or6c207 |
T |
A |
10: 129,104,392 (GRCm39) |
I267F |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,726,013 (GRCm39) |
|
probably benign |
Het |
| Pgm1 |
A |
G |
4: 99,786,803 (GRCm39) |
D14G |
probably damaging |
Het |
| Pramel7 |
T |
A |
2: 87,321,717 (GRCm39) |
D106V |
possibly damaging |
Het |
| Prdm9 |
G |
T |
17: 15,773,608 (GRCm39) |
H263N |
probably benign |
Het |
| Psd4 |
T |
A |
2: 24,286,799 (GRCm39) |
|
probably null |
Het |
| Ptprc |
G |
A |
1: 138,027,369 (GRCm39) |
T493I |
possibly damaging |
Het |
| Rbbp8 |
T |
A |
18: 11,855,036 (GRCm39) |
S420R |
probably benign |
Het |
| Sap30bp |
A |
G |
11: 115,853,373 (GRCm39) |
T219A |
probably damaging |
Het |
| Shld2 |
C |
T |
14: 33,981,684 (GRCm39) |
V485I |
probably benign |
Het |
| Slc2a7 |
T |
A |
4: 150,242,021 (GRCm39) |
L200Q |
probably damaging |
Het |
| Slc38a6 |
T |
A |
12: 73,335,299 (GRCm39) |
|
probably null |
Het |
| Tatdn2 |
T |
A |
6: 113,680,985 (GRCm39) |
|
probably benign |
Het |
| Thrb |
A |
G |
14: 18,011,056 (GRCm38) |
|
probably benign |
Het |
| Timp4 |
T |
C |
6: 115,223,269 (GRCm39) |
Y218C |
possibly damaging |
Het |
| Usp32 |
G |
T |
11: 84,879,308 (GRCm39) |
T1467N |
probably benign |
Het |
| Vmn2r78 |
A |
G |
7: 86,564,569 (GRCm39) |
I5V |
unknown |
Het |
| Zbtb43 |
T |
C |
2: 33,344,103 (GRCm39) |
H374R |
probably benign |
Het |
| Zfhx4 |
C |
A |
3: 5,308,628 (GRCm39) |
T618K |
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 |
|
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 |
2013-10-07 |
Incidental Mutation