Incidental Mutation 'R3876:Tlr11'
| ID |
276867 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tlr11
|
| Ensembl Gene |
ENSMUSG00000051969 |
| Gene Name |
toll-like receptor 11 |
| Synonyms |
LOC239081 |
| MMRRC Submission |
041606-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3876 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
50595371-50601120 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 50600611 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 866
(V866I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138814
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063570]
[ENSMUST00000185091]
|
| AlphaFold |
Q6R5P0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063570
AA Change: V861I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000068906
Gene: ENSMUSG00000051969
AA Change: V861I
| 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 |
probably benign
Transcript: ENSMUST00000185091
AA Change: V866I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000138814
Gene: ENSMUSG00000051969
AA Change: V866I
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931414P19Rik |
G |
A |
14: 54,828,857 (GRCm39) |
R215* |
probably null |
Het |
| Brinp2 |
C |
A |
1: 158,074,416 (GRCm39) |
L568F |
probably damaging |
Het |
| Brip1 |
T |
C |
11: 86,043,616 (GRCm39) |
Y316C |
probably damaging |
Het |
| Cdk5rap2 |
ATGTG |
ATG |
4: 70,208,214 (GRCm39) |
|
probably null |
Het |
| Cfap69 |
G |
T |
5: 5,634,645 (GRCm39) |
|
probably benign |
Het |
| Chrnb4 |
T |
C |
9: 54,951,182 (GRCm39) |
E27G |
probably damaging |
Het |
| Clec14a |
A |
G |
12: 58,315,430 (GRCm39) |
V64A |
possibly damaging |
Het |
| Crygs |
A |
G |
16: 22,625,262 (GRCm39) |
Y60H |
probably damaging |
Het |
| Dpp10 |
T |
A |
1: 123,281,216 (GRCm39) |
Q611L |
probably damaging |
Het |
| Entpd1 |
T |
C |
19: 40,725,264 (GRCm39) |
L450P |
probably damaging |
Het |
| Eogt |
G |
A |
6: 97,097,151 (GRCm39) |
S317L |
probably damaging |
Het |
| Exosc10 |
T |
A |
4: 148,657,376 (GRCm39) |
S584T |
probably benign |
Het |
| Fam184a |
C |
T |
10: 53,575,157 (GRCm39) |
V151I |
probably damaging |
Het |
| Fbxo43 |
A |
G |
15: 36,152,258 (GRCm39) |
V517A |
probably damaging |
Het |
| Flii |
T |
C |
11: 60,610,698 (GRCm39) |
T533A |
possibly damaging |
Het |
| Frmpd1 |
T |
G |
4: 45,284,093 (GRCm39) |
H971Q |
probably benign |
Het |
| Gata3 |
A |
T |
2: 9,867,954 (GRCm39) |
N333K |
probably damaging |
Het |
| Hectd1 |
A |
G |
12: 51,815,513 (GRCm39) |
S1525P |
probably damaging |
Het |
| Ibtk |
A |
G |
9: 85,600,479 (GRCm39) |
I816T |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Krt34 |
T |
C |
11: 99,931,791 (GRCm39) |
T143A |
probably benign |
Het |
| Lipn |
G |
T |
19: 34,046,828 (GRCm39) |
M43I |
probably benign |
Het |
| Lrp1b |
A |
G |
2: 41,335,206 (GRCm39) |
C779R |
probably damaging |
Het |
| Mios |
G |
A |
6: 8,233,189 (GRCm39) |
R779Q |
probably damaging |
Het |
| Mme |
A |
T |
3: 63,269,480 (GRCm39) |
|
probably benign |
Het |
| Ncstn |
A |
G |
1: 171,897,640 (GRCm39) |
S418P |
probably benign |
Het |
| Oprk1 |
T |
A |
1: 5,672,884 (GRCm39) |
C340* |
probably null |
Het |
| Or10d1c |
T |
A |
9: 38,894,166 (GRCm39) |
Y58F |
probably damaging |
Het |
| Or4c29 |
T |
C |
2: 88,739,952 (GRCm39) |
T262A |
possibly damaging |
Het |
| Or4k39 |
T |
C |
2: 111,238,967 (GRCm39) |
V69A |
possibly damaging |
Het |
| Or6c210 |
C |
T |
10: 129,496,143 (GRCm39) |
P156L |
probably benign |
Het |
| Or6z7 |
G |
A |
7: 6,484,131 (GRCm39) |
A8V |
probably benign |
Het |
| Pald1 |
T |
A |
10: 61,183,266 (GRCm39) |
N323Y |
probably damaging |
Het |
| Pcdhac1 |
C |
A |
18: 37,224,945 (GRCm39) |
A586E |
probably damaging |
Het |
| Pcnx2 |
C |
T |
8: 126,614,897 (GRCm39) |
A185T |
probably benign |
Het |
| Pik3r1 |
G |
A |
13: 101,821,465 (GRCm39) |
H430Y |
probably benign |
Het |
| Polr3b |
G |
A |
10: 84,556,382 (GRCm39) |
|
probably null |
Het |
| Prl8a6 |
A |
T |
13: 27,617,015 (GRCm39) |
L225* |
probably null |
Het |
| Psme4 |
T |
C |
11: 30,806,068 (GRCm39) |
S89P |
probably damaging |
Het |
| Pygl |
G |
A |
12: 70,248,113 (GRCm39) |
T250I |
probably damaging |
Het |
| Rgs13 |
T |
A |
1: 144,016,528 (GRCm39) |
K72* |
probably null |
Het |
| Ryr2 |
T |
A |
13: 11,603,045 (GRCm39) |
I4514F |
probably damaging |
Het |
| Septin3 |
A |
T |
15: 82,170,002 (GRCm39) |
D32V |
probably damaging |
Het |
| Sfrp2 |
C |
T |
3: 83,674,335 (GRCm39) |
P163S |
possibly damaging |
Het |
| Spata31 |
A |
G |
13: 65,068,745 (GRCm39) |
T298A |
probably benign |
Het |
| Stxbp2 |
T |
C |
8: 3,683,369 (GRCm39) |
|
probably null |
Het |
| Syne1 |
A |
T |
10: 5,002,345 (GRCm39) |
M282K |
possibly damaging |
Het |
| Timd2 |
T |
C |
11: 46,561,847 (GRCm39) |
|
probably null |
Het |
| Trappc10 |
T |
C |
10: 78,056,020 (GRCm39) |
|
probably null |
Het |
| Zfp512b |
AG |
AGG |
2: 181,230,556 (GRCm39) |
|
probably null |
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 |
|
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 |
|
R6480:Tlr11
|
UTSW |
14 |
50,600,512 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
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'- TCCTGAAGGTGAAGGCTTGAG -3'
(R):5'- TCTGCACAACAGCATTCCTGC -3'
Sequencing Primer
(F):5'- AAGGCTTGAGGTTGTGCC -3'
(R):5'- AGCTTTGCTGAGCCGTC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation