Incidental Mutation 'R5507:Tlr6'
| ID |
430972 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tlr6
|
| Ensembl Gene |
ENSMUSG00000051498 |
| Gene Name |
toll-like receptor 6 |
| Synonyms |
|
| MMRRC Submission |
043068-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
R5507 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
65109374-65117440 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 65110749 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Histidine
at position 719
(Q719H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062096
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062315]
[ENSMUST00000201307]
|
| AlphaFold |
Q9EPW9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062315
AA Change: Q719H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000062096
Gene: ENSMUSG00000051498
AA Change: Q719H
| Domain | Start | End | E-Value | Type |
|---|
|
LRR_TYP
|
86 |
109 |
7.67e-2 |
SMART |
|
LRR
|
131 |
155 |
2.76e1 |
SMART |
|
LRR
|
461 |
482 |
6.23e1 |
SMART |
|
LRR
|
483 |
507 |
4.57e0 |
SMART |
|
LRRCT
|
540 |
594 |
4.06e-11 |
SMART |
|
transmembrane domain
|
596 |
618 |
N/A |
INTRINSIC |
|
TIR
|
652 |
795 |
5.37e-37 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201307
|
| SMART Domains |
Protein: ENSMUSP00000143865
Gene: ENSMUSG00000051498
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
39 |
N/A |
INTRINSIC |
|
LRR_TYP
|
86 |
109 |
3.3e-4 |
SMART |
|
| Meta Mutation Damage Score |
0.2088 |
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.3%
- 20x: 91.2%
|
| Validation Efficiency |
100% (66/66) |
| 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 receptor functionally interacts with toll-like receptor 2 to mediate cellular response to bacterial lipoproteins. A Ser249Pro polymorphism in the extracellular domain of the encoded protein may be associated with an increased of asthma is some populations.[provided by RefSeq, Jan 2011]
PHENOTYPE: Inactivation of this gene results in abnormal macrophage function. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700009N14Rik |
A |
G |
4: 39,451,084 (GRCm39) |
T97A |
probably damaging |
Het |
| 1700017N19Rik |
T |
C |
10: 100,445,095 (GRCm39) |
S27P |
probably benign |
Het |
| Acoxl |
C |
A |
2: 127,726,394 (GRCm39) |
A256E |
probably damaging |
Het |
| Akap9 |
A |
G |
5: 4,018,683 (GRCm39) |
E1088G |
probably benign |
Het |
| Alox12 |
T |
C |
11: 70,145,238 (GRCm39) |
T112A |
possibly damaging |
Het |
| Ampd2 |
A |
G |
3: 107,984,929 (GRCm39) |
V379A |
probably damaging |
Het |
| Ap4e1 |
C |
A |
2: 126,850,818 (GRCm39) |
H49N |
probably damaging |
Het |
| Arhgap11a |
T |
C |
2: 113,672,023 (GRCm39) |
T260A |
probably benign |
Het |
| Atg2a |
T |
C |
19: 6,295,100 (GRCm39) |
F171S |
possibly damaging |
Het |
| Bpifb9b |
A |
T |
2: 154,158,947 (GRCm39) |
Y488F |
possibly damaging |
Het |
| C2cd2 |
T |
C |
16: 97,682,820 (GRCm39) |
T139A |
probably benign |
Het |
| Cct8l1 |
A |
T |
5: 25,721,377 (GRCm39) |
T31S |
probably benign |
Het |
| Cdhr1 |
A |
T |
14: 36,804,802 (GRCm39) |
N469K |
probably damaging |
Het |
| Chga |
T |
C |
12: 102,528,868 (GRCm39) |
S282P |
probably benign |
Het |
| Chrnb4 |
T |
G |
9: 54,942,296 (GRCm39) |
H326P |
probably damaging |
Het |
| Cntnap1 |
A |
G |
11: 101,074,303 (GRCm39) |
T748A |
probably benign |
Het |
| Cpsf3 |
T |
A |
12: 21,347,929 (GRCm39) |
L250H |
probably damaging |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Dppa5a |
T |
A |
9: 78,275,353 (GRCm39) |
D10V |
possibly damaging |
Het |
| Dsc2 |
G |
A |
18: 20,179,336 (GRCm39) |
T244I |
probably damaging |
Het |
| Elavl4 |
T |
C |
4: 110,070,403 (GRCm39) |
T144A |
probably benign |
Het |
| Ephb1 |
C |
T |
9: 101,813,315 (GRCm39) |
V776M |
probably damaging |
Het |
| Fcrl1 |
C |
T |
3: 87,298,549 (GRCm39) |
S348F |
probably benign |
Het |
| Fga |
T |
A |
3: 82,940,643 (GRCm39) |
W766R |
probably damaging |
Het |
| Galnt14 |
A |
G |
17: 73,802,661 (GRCm39) |
V477A |
probably damaging |
Het |
| Gcdh |
A |
G |
8: 85,619,486 (GRCm39) |
L103P |
probably damaging |
Het |
| Gm27013 |
G |
A |
6: 130,652,942 (GRCm39) |
T840I |
probably damaging |
Het |
| Gpr179 |
A |
T |
11: 97,229,156 (GRCm39) |
W1000R |
probably damaging |
Het |
| Hectd4 |
C |
T |
5: 121,419,164 (GRCm39) |
A581V |
unknown |
Het |
| Ints12 |
T |
A |
3: 132,814,921 (GRCm39) |
V376E |
probably damaging |
Het |
| Krt77 |
T |
C |
15: 101,769,665 (GRCm39) |
I402V |
probably benign |
Het |
| Marchf1 |
T |
C |
8: 66,871,542 (GRCm39) |
V102A |
probably damaging |
Het |
| Meis1 |
A |
T |
11: 18,966,168 (GRCm39) |
N68K |
probably benign |
Het |
| Mthfd1l |
A |
G |
10: 4,056,432 (GRCm39) |
E916G |
probably benign |
Het |
| Muc5ac |
T |
C |
7: 141,361,569 (GRCm39) |
F1627L |
possibly damaging |
Het |
| Myef2 |
A |
T |
2: 124,958,623 (GRCm39) |
M102K |
probably benign |
Het |
| Naip6 |
A |
C |
13: 100,435,423 (GRCm39) |
H1033Q |
probably benign |
Het |
| Nid1 |
T |
A |
13: 13,663,622 (GRCm39) |
C760* |
probably null |
Het |
| Nt5dc1 |
A |
T |
10: 34,273,226 (GRCm39) |
C191S |
probably benign |
Het |
| Nup214 |
A |
G |
2: 31,878,188 (GRCm39) |
E285G |
possibly damaging |
Het |
| Nvl |
A |
G |
1: 180,962,601 (GRCm39) |
L123P |
probably damaging |
Het |
| Or5t9 |
T |
A |
2: 86,659,661 (GRCm39) |
H188Q |
probably damaging |
Het |
| Otog |
A |
G |
7: 45,911,123 (GRCm39) |
E658G |
probably damaging |
Het |
| Pam16 |
G |
T |
16: 4,435,880 (GRCm39) |
|
probably benign |
Het |
| Psg17 |
T |
C |
7: 18,553,851 (GRCm39) |
D133G |
probably benign |
Het |
| Rabgap1l |
A |
G |
1: 160,178,898 (GRCm39) |
S21P |
possibly damaging |
Het |
| Rgs22 |
T |
A |
15: 36,099,798 (GRCm39) |
M306L |
probably damaging |
Het |
| Ruvbl1 |
A |
G |
6: 88,444,582 (GRCm39) |
K59R |
probably benign |
Het |
| Samd9l |
T |
C |
6: 3,373,898 (GRCm39) |
E1121G |
possibly damaging |
Het |
| Serpinb13 |
A |
G |
1: 106,926,332 (GRCm39) |
N169S |
probably benign |
Het |
| Setbp1 |
T |
A |
18: 79,129,927 (GRCm39) |
T102S |
probably damaging |
Het |
| Syn3 |
A |
T |
10: 85,916,090 (GRCm39) |
S299T |
probably benign |
Het |
| Taar7a |
A |
G |
10: 23,868,529 (GRCm39) |
L284P |
probably damaging |
Het |
| Tmem131 |
T |
A |
1: 36,928,361 (GRCm39) |
D76V |
probably damaging |
Het |
| Tradd |
T |
G |
8: 105,986,257 (GRCm39) |
D145A |
possibly damaging |
Het |
| Usp20 |
A |
T |
2: 30,900,238 (GRCm39) |
M251L |
probably benign |
Het |
| Vmn2r96 |
T |
A |
17: 18,818,091 (GRCm39) |
L556Q |
probably damaging |
Het |
| Xrcc2 |
A |
G |
5: 25,897,317 (GRCm39) |
S211P |
probably benign |
Het |
|
| Other mutations in Tlr6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00949:Tlr6
|
APN |
5 |
65,110,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00963:Tlr6
|
APN |
5 |
65,112,019 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01540:Tlr6
|
APN |
5 |
65,112,629 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01675:Tlr6
|
APN |
5 |
65,111,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01705:Tlr6
|
APN |
5 |
65,111,473 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02256:Tlr6
|
APN |
5 |
65,112,287 (GRCm39) |
missense |
probably benign |
0.00 |
|
Counterintuitive
|
UTSW |
5 |
65,110,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
insouciant
|
UTSW |
5 |
65,111,926 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
m2sd1
|
UTSW |
5 |
65,111,537 (GRCm39) |
nonsense |
|
|
|
m2sd2
|
UTSW |
5 |
65,111,737 (GRCm39) |
nonsense |
|
|
|
m2sd3
|
UTSW |
5 |
65,111,584 (GRCm39) |
missense |
probably damaging |
0.98 |
|
One_off
|
UTSW |
5 |
65,110,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0336:Tlr6
|
UTSW |
5 |
65,111,289 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0388:Tlr6
|
UTSW |
5 |
65,112,548 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0558:Tlr6
|
UTSW |
5 |
65,112,203 (GRCm39) |
nonsense |
probably null |
|
|
R0671:Tlr6
|
UTSW |
5 |
65,111,935 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1171:Tlr6
|
UTSW |
5 |
65,112,593 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1550:Tlr6
|
UTSW |
5 |
65,110,754 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1809:Tlr6
|
UTSW |
5 |
65,111,055 (GRCm39) |
nonsense |
probably null |
|
|
R1868:Tlr6
|
UTSW |
5 |
65,112,172 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1876:Tlr6
|
UTSW |
5 |
65,112,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1893:Tlr6
|
UTSW |
5 |
65,110,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2006:Tlr6
|
UTSW |
5 |
65,110,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2055:Tlr6
|
UTSW |
5 |
65,111,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3087:Tlr6
|
UTSW |
5 |
65,111,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3406:Tlr6
|
UTSW |
5 |
65,110,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3711:Tlr6
|
UTSW |
5 |
65,111,152 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R3938:Tlr6
|
UTSW |
5 |
65,110,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3962:Tlr6
|
UTSW |
5 |
65,112,328 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4152:Tlr6
|
UTSW |
5 |
65,110,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4274:Tlr6
|
UTSW |
5 |
65,110,981 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4516:Tlr6
|
UTSW |
5 |
65,112,247 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4518:Tlr6
|
UTSW |
5 |
65,112,247 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4762:Tlr6
|
UTSW |
5 |
65,111,739 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4959:Tlr6
|
UTSW |
5 |
65,111,002 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5119:Tlr6
|
UTSW |
5 |
65,111,644 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5248:Tlr6
|
UTSW |
5 |
65,112,647 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5572:Tlr6
|
UTSW |
5 |
65,112,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5773:Tlr6
|
UTSW |
5 |
65,111,846 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6711:Tlr6
|
UTSW |
5 |
65,111,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7096:Tlr6
|
UTSW |
5 |
65,111,119 (GRCm39) |
missense |
probably benign |
|
|
R7341:Tlr6
|
UTSW |
5 |
65,110,972 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7594:Tlr6
|
UTSW |
5 |
65,110,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7754:Tlr6
|
UTSW |
5 |
65,111,693 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7774:Tlr6
|
UTSW |
5 |
65,110,728 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8292:Tlr6
|
UTSW |
5 |
65,111,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8348:Tlr6
|
UTSW |
5 |
65,111,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8376:Tlr6
|
UTSW |
5 |
65,112,455 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8448:Tlr6
|
UTSW |
5 |
65,111,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9620:Tlr6
|
UTSW |
5 |
65,112,146 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9654:Tlr6
|
UTSW |
5 |
65,112,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Tlr6
|
UTSW |
5 |
65,112,582 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATGAAGCTCTAAGGTTGGCC -3'
(R):5'- ACAGTGAGCATGATTCTGCCTG -3'
Sequencing Primer
(F):5'- GCTCTAAGGTTGGCCCAAAACAG -3'
(R):5'- CATGATTCTGCCTGGGTGAAGAAC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation