Incidental Mutation 'R6480:Tlr11'
| ID |
517056 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tlr11
|
| Ensembl Gene |
ENSMUSG00000051969 |
| Gene Name |
toll-like receptor 11 |
| Synonyms |
LOC239081 |
| MMRRC Submission |
044612-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6480 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
50595371-50601120 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 50600512 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 833
(S833G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138814
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063570]
[ENSMUST00000185091]
|
| AlphaFold |
Q6R5P0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000063570
AA Change: S828G
PolyPhen 2
Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000068906
Gene: ENSMUSG00000051969
AA Change: S828G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
105 |
122 |
N/A |
INTRINSIC |
|
low complexity region
|
153 |
161 |
N/A |
INTRINSIC |
|
LRR
|
311 |
333 |
3.36e1 |
SMART |
|
LRR
|
335 |
361 |
4.44e0 |
SMART |
|
LRR
|
362 |
383 |
2.03e1 |
SMART |
|
LRR_TYP
|
384 |
407 |
2.57e-3 |
SMART |
|
LRR_TYP
|
408 |
431 |
2.75e-3 |
SMART |
|
low complexity region
|
544 |
556 |
N/A |
INTRINSIC |
|
LRR
|
605 |
628 |
6.06e1 |
SMART |
|
transmembrane domain
|
719 |
741 |
N/A |
INTRINSIC |
|
Pfam:TIR
|
773 |
922 |
2.1e-9 |
PFAM |
|
Pfam:TIR_2
|
776 |
894 |
6.6e-13 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000185091
AA Change: S833G
PolyPhen 2
Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000138814
Gene: ENSMUSG00000051969
AA Change: S833G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
16 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
158 |
166 |
N/A |
INTRINSIC |
|
Pfam:LRR_6
|
221 |
244 |
5.3e-2 |
PFAM |
|
LRR
|
316 |
338 |
3.36e1 |
SMART |
|
LRR
|
340 |
366 |
4.44e0 |
SMART |
|
LRR
|
367 |
388 |
2.03e1 |
SMART |
|
LRR_TYP
|
389 |
412 |
2.57e-3 |
SMART |
|
LRR_TYP
|
413 |
436 |
2.75e-3 |
SMART |
|
low complexity region
|
549 |
561 |
N/A |
INTRINSIC |
|
LRR
|
610 |
633 |
6.06e1 |
SMART |
|
transmembrane domain
|
724 |
746 |
N/A |
INTRINSIC |
|
Pfam:TIR_2
|
781 |
898 |
1e-12 |
PFAM |
|
Pfam:TIR
|
781 |
922 |
1.8e-13 |
PFAM |
|
| Meta Mutation Damage Score |
0.1712 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.4%
|
| Validation Efficiency |
98% (57/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl8b |
T |
A |
6: 108,792,010 (GRCm39) |
N90K |
possibly damaging |
Het |
| Art3 |
T |
C |
5: 92,540,676 (GRCm39) |
F140L |
probably damaging |
Het |
| Ascc3 |
T |
A |
10: 50,587,049 (GRCm39) |
M967K |
probably damaging |
Het |
| Ccne1 |
G |
A |
7: 37,806,279 (GRCm39) |
|
probably benign |
Het |
| Cdc14b |
T |
C |
13: 64,373,464 (GRCm39) |
|
probably null |
Het |
| Ceacam2 |
T |
A |
7: 25,219,414 (GRCm39) |
E282V |
probably damaging |
Het |
| Clk4 |
T |
A |
11: 51,161,373 (GRCm39) |
C86* |
probably null |
Het |
| Cul2 |
A |
C |
18: 3,417,561 (GRCm39) |
K115T |
possibly damaging |
Het |
| Dhx29 |
A |
T |
13: 113,090,322 (GRCm39) |
K800* |
probably null |
Het |
| Dlec1 |
T |
C |
9: 118,976,758 (GRCm39) |
F1741S |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,594,412 (GRCm39) |
T3455A |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Drd4 |
A |
T |
7: 140,874,706 (GRCm39) |
I366F |
possibly damaging |
Het |
| Fam169b |
T |
A |
7: 68,003,466 (GRCm39) |
Y273* |
probably null |
Het |
| Fbn1 |
T |
A |
2: 125,177,338 (GRCm39) |
Y1833F |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,820,430 (GRCm39) |
T5388A |
possibly damaging |
Het |
| Gjb6 |
T |
C |
14: 57,361,899 (GRCm39) |
I121V |
probably benign |
Het |
| Glg1 |
T |
C |
8: 111,924,338 (GRCm39) |
T217A |
possibly damaging |
Het |
| Igkv5-48 |
A |
G |
6: 69,703,810 (GRCm39) |
S32P |
probably benign |
Het |
| Itgax |
C |
A |
7: 127,747,771 (GRCm39) |
F1062L |
probably benign |
Het |
| Lct |
G |
A |
1: 128,222,057 (GRCm39) |
T1494I |
probably damaging |
Het |
| Lilra6 |
G |
A |
7: 3,915,932 (GRCm39) |
T309I |
probably damaging |
Het |
| Mical3 |
T |
C |
6: 121,011,236 (GRCm39) |
T321A |
possibly damaging |
Het |
| Mmp23 |
T |
A |
4: 155,736,798 (GRCm39) |
N104I |
probably damaging |
Het |
| Muc17 |
T |
C |
5: 137,171,238 (GRCm39) |
Y131C |
|
Het |
| Naip2 |
A |
C |
13: 100,298,549 (GRCm39) |
S496A |
probably benign |
Het |
| Ndufs2 |
A |
G |
1: 171,064,267 (GRCm39) |
S348P |
probably damaging |
Het |
| Nepro |
T |
C |
16: 44,547,438 (GRCm39) |
S52P |
probably damaging |
Het |
| Nlrp6 |
A |
G |
7: 140,507,356 (GRCm39) |
E874G |
possibly damaging |
Het |
| Nsmce1 |
A |
G |
7: 125,090,590 (GRCm39) |
V9A |
probably benign |
Het |
| Or1q1 |
T |
C |
2: 36,887,007 (GRCm39) |
F62L |
probably benign |
Het |
| Or2a7 |
T |
C |
6: 43,151,000 (GRCm39) |
F27L |
probably benign |
Het |
| Or5b105 |
T |
A |
19: 13,079,838 (GRCm39) |
T277S |
probably benign |
Het |
| Or6c3 |
A |
T |
10: 129,308,590 (GRCm39) |
I10F |
possibly damaging |
Het |
| Per2 |
A |
T |
1: 91,357,104 (GRCm39) |
|
probably null |
Het |
| Pgbd1 |
T |
C |
13: 21,607,646 (GRCm39) |
I183V |
probably benign |
Het |
| Pik3c2g |
T |
C |
6: 139,676,195 (GRCm39) |
V113A |
probably benign |
Het |
| Pipox |
A |
G |
11: 77,773,474 (GRCm39) |
L259P |
probably damaging |
Het |
| Pkd1l3 |
C |
T |
8: 110,365,019 (GRCm39) |
Q1124* |
probably null |
Het |
| Plcd3 |
A |
G |
11: 102,965,757 (GRCm39) |
S492P |
possibly damaging |
Het |
| Rcor2 |
T |
G |
19: 7,248,411 (GRCm39) |
M142R |
probably benign |
Het |
| Rwdd3 |
T |
C |
3: 120,950,101 (GRCm39) |
E115G |
probably damaging |
Het |
| Slc13a3 |
T |
C |
2: 165,250,818 (GRCm39) |
Y475C |
probably damaging |
Het |
| Slc14a2 |
A |
T |
18: 78,202,297 (GRCm39) |
I611N |
possibly damaging |
Het |
| Slc25a24 |
G |
T |
3: 109,043,617 (GRCm39) |
M91I |
probably damaging |
Het |
| Spg11 |
T |
C |
2: 121,922,786 (GRCm39) |
S888G |
probably benign |
Het |
| Spta1 |
A |
T |
1: 174,014,714 (GRCm39) |
|
probably null |
Het |
| Stk35 |
C |
A |
2: 129,652,607 (GRCm39) |
D369E |
possibly damaging |
Het |
| Tanc1 |
T |
C |
2: 59,637,986 (GRCm39) |
S889P |
probably damaging |
Het |
| Tbc1d10b |
T |
C |
7: 126,798,050 (GRCm39) |
N697S |
probably damaging |
Het |
| Tcof1 |
A |
T |
18: 60,947,852 (GRCm39) |
|
probably null |
Het |
| Tg |
T |
A |
15: 66,543,160 (GRCm39) |
Y25N |
probably damaging |
Het |
| Thbs1 |
T |
C |
2: 117,949,598 (GRCm39) |
C563R |
probably damaging |
Het |
| Uggt2 |
T |
A |
14: 119,294,976 (GRCm39) |
H550L |
probably benign |
Het |
| Utp20 |
A |
G |
10: 88,591,048 (GRCm39) |
|
probably null |
Het |
| Wbp1l |
T |
A |
19: 46,642,758 (GRCm39) |
L253Q |
probably damaging |
Het |
| Zfp433 |
T |
A |
10: 81,556,078 (GRCm39) |
S161R |
possibly damaging |
Het |
| Zfp865 |
A |
G |
7: 5,032,782 (GRCm39) |
T256A |
probably damaging |
Het |
| Zpr1 |
A |
G |
9: 46,186,009 (GRCm39) |
D160G |
probably benign |
Het |
|
| Other mutations in Tlr11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00590:Tlr11
|
APN |
14 |
50,598,373 (GRCm39) |
missense |
probably benign |
|
|
IGL02090:Tlr11
|
APN |
14 |
50,600,489 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02286:Tlr11
|
APN |
14 |
50,598,328 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02671:Tlr11
|
APN |
14 |
50,598,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03064:Tlr11
|
APN |
14 |
50,598,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03068:Tlr11
|
APN |
14 |
50,598,941 (GRCm39) |
missense |
probably benign |
|
|
R0099:Tlr11
|
UTSW |
14 |
50,598,275 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0727:Tlr11
|
UTSW |
14 |
50,598,926 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0944:Tlr11
|
UTSW |
14 |
50,599,793 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1490:Tlr11
|
UTSW |
14 |
50,600,633 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1726:Tlr11
|
UTSW |
14 |
50,598,998 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1803:Tlr11
|
UTSW |
14 |
50,598,104 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1908:Tlr11
|
UTSW |
14 |
50,598,664 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1971:Tlr11
|
UTSW |
14 |
50,598,691 (GRCm39) |
missense |
probably benign |
|
|
R1981:Tlr11
|
UTSW |
14 |
50,599,445 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2023:Tlr11
|
UTSW |
14 |
50,600,026 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2079:Tlr11
|
UTSW |
14 |
50,598,437 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2155:Tlr11
|
UTSW |
14 |
50,598,139 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2251:Tlr11
|
UTSW |
14 |
50,598,249 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3017:Tlr11
|
UTSW |
14 |
50,600,178 (GRCm39) |
nonsense |
probably null |
|
|
R3760:Tlr11
|
UTSW |
14 |
50,599,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3876:Tlr11
|
UTSW |
14 |
50,600,611 (GRCm39) |
missense |
probably benign |
|
|
R3936:Tlr11
|
UTSW |
14 |
50,600,192 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4002:Tlr11
|
UTSW |
14 |
50,599,984 (GRCm39) |
missense |
probably benign |
|
|
R4024:Tlr11
|
UTSW |
14 |
50,600,303 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4118:Tlr11
|
UTSW |
14 |
50,600,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4222:Tlr11
|
UTSW |
14 |
50,599,306 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4365:Tlr11
|
UTSW |
14 |
50,598,926 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4678:Tlr11
|
UTSW |
14 |
50,598,439 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4779:Tlr11
|
UTSW |
14 |
50,598,707 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4910:Tlr11
|
UTSW |
14 |
50,600,346 (GRCm39) |
missense |
probably benign |
0.45 |
|
R4921:Tlr11
|
UTSW |
14 |
50,600,342 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5114:Tlr11
|
UTSW |
14 |
50,600,578 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5126:Tlr11
|
UTSW |
14 |
50,598,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5349:Tlr11
|
UTSW |
14 |
50,598,337 (GRCm39) |
missense |
probably benign |
0.45 |
|
R5606:Tlr11
|
UTSW |
14 |
50,599,717 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5650:Tlr11
|
UTSW |
14 |
50,598,658 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5958:Tlr11
|
UTSW |
14 |
50,598,234 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5966:Tlr11
|
UTSW |
14 |
50,599,712 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6484:Tlr11
|
UTSW |
14 |
50,600,135 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6679:Tlr11
|
UTSW |
14 |
50,600,311 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6717:Tlr11
|
UTSW |
14 |
50,599,561 (GRCm39) |
missense |
probably benign |
|
|
R7085:Tlr11
|
UTSW |
14 |
50,600,113 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7241:Tlr11
|
UTSW |
14 |
50,599,598 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7440:Tlr11
|
UTSW |
14 |
50,598,801 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7482:Tlr11
|
UTSW |
14 |
50,600,456 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7582:Tlr11
|
UTSW |
14 |
50,599,186 (GRCm39) |
nonsense |
probably null |
|
|
R7790:Tlr11
|
UTSW |
14 |
50,599,382 (GRCm39) |
missense |
probably benign |
|
|
R7818:Tlr11
|
UTSW |
14 |
50,599,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7827:Tlr11
|
UTSW |
14 |
50,598,611 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8144:Tlr11
|
UTSW |
14 |
50,599,945 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8847:Tlr11
|
UTSW |
14 |
50,600,182 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9027:Tlr11
|
UTSW |
14 |
50,598,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9035:Tlr11
|
UTSW |
14 |
50,598,434 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9393:Tlr11
|
UTSW |
14 |
50,599,547 (GRCm39) |
missense |
probably benign |
0.03 |
|
RF002:Tlr11
|
UTSW |
14 |
50,598,682 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
Z1088:Tlr11
|
UTSW |
14 |
50,599,795 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
Z1176:Tlr11
|
UTSW |
14 |
50,599,793 (GRCm39) |
missense |
probably benign |
0.40 |
|
Z1176:Tlr11
|
UTSW |
14 |
50,598,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGTCCTGGCTTCATCAC -3'
(R):5'- ATGGAGCCTCTGCCTATCAAG -3'
Sequencing Primer
(F):5'- TTATGTGGACATAGACTCAGAGGCC -3'
(R):5'- CTATCAAGGGGCTCCAGAAAC -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation