Incidental Mutation 'R5029:Tlr1'
| ID |
391550 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tlr1
|
| Ensembl Gene |
ENSMUSG00000044827 |
| Gene Name |
toll-like receptor 1 |
| Synonyms |
|
| MMRRC Submission |
042620-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5029 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
65082022-65090906 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 65083024 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 518
(N518Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142500
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059349]
[ENSMUST00000197315]
|
| AlphaFold |
Q9EPQ1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059349
AA Change: N518Y
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000060793
Gene: ENSMUSG00000044827
AA Change: N518Y
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
LRR
|
71 |
94 |
5.72e0 |
SMART |
|
LRR
|
116 |
140 |
3.27e2 |
SMART |
|
low complexity region
|
240 |
256 |
N/A |
INTRINSIC |
|
LRR
|
374 |
397 |
9.75e0 |
SMART |
|
LRR
|
400 |
423 |
4.98e1 |
SMART |
|
low complexity region
|
427 |
438 |
N/A |
INTRINSIC |
|
LRR
|
448 |
469 |
6.23e1 |
SMART |
|
LRR
|
470 |
494 |
4.57e0 |
SMART |
|
LRRCT
|
527 |
581 |
2.5e-11 |
SMART |
|
transmembrane domain
|
583 |
605 |
N/A |
INTRINSIC |
|
TIR
|
639 |
782 |
4.03e-41 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000197315
AA Change: N518Y
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142500
Gene: ENSMUSG00000044827
AA Change: N518Y
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
LRR
|
71 |
94 |
5.72e0 |
SMART |
|
Pfam:LRR_1
|
97 |
114 |
2.3e-2 |
PFAM |
|
LRR
|
116 |
140 |
3.27e2 |
SMART |
|
low complexity region
|
240 |
256 |
N/A |
INTRINSIC |
|
LRR
|
374 |
397 |
9.75e0 |
SMART |
|
LRR
|
400 |
423 |
4.98e1 |
SMART |
|
low complexity region
|
427 |
438 |
N/A |
INTRINSIC |
|
LRR
|
448 |
469 |
6.23e1 |
SMART |
|
LRR
|
470 |
494 |
4.57e0 |
SMART |
|
LRRCT
|
527 |
581 |
2.5e-11 |
SMART |
|
transmembrane domain
|
583 |
605 |
N/A |
INTRINSIC |
|
TIR
|
639 |
782 |
4.03e-41 |
SMART |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.1%
|
| Validation Efficiency |
97% (61/63) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is ubiquitously expressed, and at higher levels than other TLR genes. Different length transcripts presumably resulting from use of alternative polyadenylation site, and/or from alternative splicing, have been noted for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display decreased macrophage peptoglycan-stimulated IL-6 production. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actbl2 |
T |
A |
13: 111,392,127 (GRCm39) |
M154K |
probably benign |
Het |
| Ank |
T |
C |
15: 27,590,439 (GRCm39) |
V341A |
probably benign |
Het |
| Bnip3 |
T |
A |
7: 138,499,848 (GRCm39) |
|
probably benign |
Het |
| C1galt1 |
A |
G |
6: 7,863,931 (GRCm39) |
K4E |
possibly damaging |
Het |
| Cbs |
T |
A |
17: 31,834,456 (GRCm39) |
Q511L |
possibly damaging |
Het |
| Ccdc117 |
T |
C |
11: 5,484,897 (GRCm39) |
H109R |
possibly damaging |
Het |
| Cdh4 |
T |
A |
2: 179,523,742 (GRCm39) |
V440D |
possibly damaging |
Het |
| Cnot4 |
T |
C |
6: 35,054,962 (GRCm39) |
N109S |
probably damaging |
Het |
| Dact2 |
A |
T |
17: 14,416,114 (GRCm39) |
S695R |
probably benign |
Het |
| Defa21 |
A |
T |
8: 21,516,381 (GRCm39) |
E75V |
probably damaging |
Het |
| Dimt1 |
A |
G |
13: 107,093,630 (GRCm39) |
D274G |
probably null |
Het |
| Dstyk |
G |
T |
1: 132,377,062 (GRCm39) |
V223L |
probably benign |
Het |
| Dync1h1 |
T |
A |
12: 110,584,444 (GRCm39) |
S616T |
possibly damaging |
Het |
| Fer1l6 |
A |
T |
15: 58,515,769 (GRCm39) |
I1619F |
probably benign |
Het |
| Gm4744 |
T |
A |
6: 40,926,341 (GRCm39) |
Y83F |
probably null |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Hpx |
T |
G |
7: 105,240,971 (GRCm39) |
Y434S |
probably damaging |
Het |
| Ints4 |
A |
G |
7: 97,158,981 (GRCm39) |
D451G |
probably benign |
Het |
| Itgb4 |
A |
T |
11: 115,879,417 (GRCm39) |
|
probably benign |
Het |
| Jph1 |
T |
A |
1: 17,161,615 (GRCm39) |
N349I |
possibly damaging |
Het |
| Klrg1 |
A |
G |
6: 122,259,694 (GRCm39) |
L26P |
probably benign |
Het |
| M1ap |
A |
C |
6: 82,980,813 (GRCm39) |
D233A |
probably damaging |
Het |
| Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
| Mycbp2 |
A |
G |
14: 103,393,946 (GRCm39) |
S2762P |
probably benign |
Het |
| Myh11 |
T |
A |
16: 14,023,489 (GRCm39) |
Q1556L |
probably damaging |
Het |
| N4bp2 |
A |
G |
5: 65,972,123 (GRCm39) |
D1428G |
probably damaging |
Het |
| Ndc80 |
A |
C |
17: 71,815,760 (GRCm39) |
C342G |
probably benign |
Het |
| Nxn |
A |
C |
11: 76,165,356 (GRCm39) |
Y199* |
probably null |
Het |
| Or6c206 |
T |
A |
10: 129,097,707 (GRCm39) |
N292K |
probably benign |
Het |
| Or7c19 |
C |
T |
8: 85,957,835 (GRCm39) |
A237V |
probably benign |
Het |
| Or8j3b |
A |
G |
2: 86,205,234 (GRCm39) |
I174T |
probably damaging |
Het |
| Pacs1 |
A |
G |
19: 5,192,299 (GRCm39) |
F691L |
probably benign |
Het |
| Pcdhga12 |
T |
C |
18: 37,899,864 (GRCm39) |
V232A |
probably benign |
Het |
| Pik3cb |
A |
T |
9: 98,936,113 (GRCm39) |
M773K |
probably damaging |
Het |
| Plxnb1 |
T |
C |
9: 108,943,723 (GRCm39) |
Y1937H |
probably damaging |
Het |
| Ppfia2 |
C |
A |
10: 106,693,304 (GRCm39) |
T603N |
probably benign |
Het |
| Psg22 |
A |
G |
7: 18,453,662 (GRCm39) |
Y119C |
probably damaging |
Het |
| Saraf |
G |
T |
8: 34,628,412 (GRCm39) |
R86L |
probably damaging |
Het |
| Sh3bgrl2 |
T |
C |
9: 83,430,542 (GRCm39) |
S11P |
possibly damaging |
Het |
| Slc39a4 |
C |
T |
15: 76,498,283 (GRCm39) |
D385N |
probably damaging |
Het |
| St13 |
G |
C |
15: 81,283,786 (GRCm39) |
R4G |
probably benign |
Het |
| Stpg3 |
T |
C |
2: 25,104,576 (GRCm39) |
N13S |
probably damaging |
Het |
| Taf1a |
T |
A |
1: 183,177,273 (GRCm39) |
D50E |
possibly damaging |
Het |
| Tnik |
G |
A |
3: 28,719,993 (GRCm39) |
|
probably null |
Het |
| Tomm70a |
T |
A |
16: 56,942,514 (GRCm39) |
L97Q |
probably benign |
Het |
| Vmn2r97 |
T |
A |
17: 19,168,173 (GRCm39) |
V809E |
probably damaging |
Het |
| Vps13d |
T |
C |
4: 144,882,852 (GRCm39) |
I914V |
probably benign |
Het |
| Zfyve26 |
A |
T |
12: 79,333,097 (GRCm39) |
H291Q |
probably damaging |
Het |
| Zmynd15 |
G |
T |
11: 70,353,387 (GRCm39) |
C334F |
probably damaging |
Het |
|
| Other mutations in Tlr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00571:Tlr1
|
APN |
5 |
65,083,777 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01324:Tlr1
|
APN |
5 |
65,082,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01564:Tlr1
|
APN |
5 |
65,083,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01663:Tlr1
|
APN |
5 |
65,082,416 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL01689:Tlr1
|
APN |
5 |
65,083,122 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01749:Tlr1
|
APN |
5 |
65,083,290 (GRCm39) |
nonsense |
probably null |
|
|
IGL01751:Tlr1
|
APN |
5 |
65,083,290 (GRCm39) |
nonsense |
probably null |
|
|
IGL01769:Tlr1
|
APN |
5 |
65,083,290 (GRCm39) |
nonsense |
probably null |
|
|
IGL01899:Tlr1
|
APN |
5 |
65,084,359 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02197:Tlr1
|
APN |
5 |
65,083,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02295:Tlr1
|
APN |
5 |
65,083,290 (GRCm39) |
nonsense |
probably null |
|
|
IGL02308:Tlr1
|
APN |
5 |
65,083,290 (GRCm39) |
nonsense |
probably null |
|
|
IGL02309:Tlr1
|
APN |
5 |
65,083,290 (GRCm39) |
nonsense |
probably null |
|
|
IGL02311:Tlr1
|
APN |
5 |
65,083,290 (GRCm39) |
nonsense |
probably null |
|
|
IGL02591:Tlr1
|
APN |
5 |
65,084,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02739:Tlr1
|
APN |
5 |
65,084,469 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL03206:Tlr1
|
APN |
5 |
65,082,400 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03055:Tlr1
|
UTSW |
5 |
65,083,939 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0315:Tlr1
|
UTSW |
5 |
65,084,271 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0317:Tlr1
|
UTSW |
5 |
65,083,310 (GRCm39) |
nonsense |
probably null |
|
|
R0511:Tlr1
|
UTSW |
5 |
65,083,963 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1539:Tlr1
|
UTSW |
5 |
65,084,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1552:Tlr1
|
UTSW |
5 |
65,084,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1835:Tlr1
|
UTSW |
5 |
65,083,043 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1933:Tlr1
|
UTSW |
5 |
65,082,781 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1956:Tlr1
|
UTSW |
5 |
65,082,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2099:Tlr1
|
UTSW |
5 |
65,082,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2507:Tlr1
|
UTSW |
5 |
65,082,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2508:Tlr1
|
UTSW |
5 |
65,082,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2937:Tlr1
|
UTSW |
5 |
65,083,251 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2938:Tlr1
|
UTSW |
5 |
65,083,251 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3033:Tlr1
|
UTSW |
5 |
65,082,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4164:Tlr1
|
UTSW |
5 |
65,084,545 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4226:Tlr1
|
UTSW |
5 |
65,083,060 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4366:Tlr1
|
UTSW |
5 |
65,083,180 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5009:Tlr1
|
UTSW |
5 |
65,083,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5069:Tlr1
|
UTSW |
5 |
65,083,743 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5186:Tlr1
|
UTSW |
5 |
65,082,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5336:Tlr1
|
UTSW |
5 |
65,083,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5500:Tlr1
|
UTSW |
5 |
65,084,441 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5503:Tlr1
|
UTSW |
5 |
65,083,635 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5577:Tlr1
|
UTSW |
5 |
65,083,428 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6141:Tlr1
|
UTSW |
5 |
65,082,556 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6210:Tlr1
|
UTSW |
5 |
65,082,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6238:Tlr1
|
UTSW |
5 |
65,084,472 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6284:Tlr1
|
UTSW |
5 |
65,084,442 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6311:Tlr1
|
UTSW |
5 |
65,084,188 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7021:Tlr1
|
UTSW |
5 |
65,083,056 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7140:Tlr1
|
UTSW |
5 |
65,083,021 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7234:Tlr1
|
UTSW |
5 |
65,084,067 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7278:Tlr1
|
UTSW |
5 |
65,084,115 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7378:Tlr1
|
UTSW |
5 |
65,082,571 (GRCm39) |
missense |
not run |
|
|
R7652:Tlr1
|
UTSW |
5 |
65,084,130 (GRCm39) |
nonsense |
probably null |
|
|
R7781:Tlr1
|
UTSW |
5 |
65,084,079 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7783:Tlr1
|
UTSW |
5 |
65,082,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7851:Tlr1
|
UTSW |
5 |
65,082,307 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8546:Tlr1
|
UTSW |
5 |
65,084,374 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8696:Tlr1
|
UTSW |
5 |
65,084,094 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8744:Tlr1
|
UTSW |
5 |
65,083,873 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9086:Tlr1
|
UTSW |
5 |
65,083,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9160:Tlr1
|
UTSW |
5 |
65,083,653 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9199:Tlr1
|
UTSW |
5 |
65,083,534 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9778:Tlr1
|
UTSW |
5 |
65,083,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0067:Tlr1
|
UTSW |
5 |
65,083,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATGTGGAAGTCCCTCAGTG -3'
(R):5'- TTCAGATGCTTACCTCCCAAAGTC -3'
Sequencing Primer
(F):5'- TGGAAGTCCCTCAGTGCAGTTC -3'
(R):5'- TCCCAAAGTCAAGGTCCTTG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation