Incidental Mutation 'R2023:Tlr11'
| ID |
220181 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tlr11
|
| Ensembl Gene |
ENSMUSG00000051969 |
| Gene Name |
toll-like receptor 11 |
| Synonyms |
LOC239081 |
| MMRRC Submission |
040032-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2023 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
50595371-50601120 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 50600026 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 671
(T671A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138814
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063570]
[ENSMUST00000185091]
|
| AlphaFold |
Q6R5P0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063570
AA Change: T666A
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000068906
Gene: ENSMUSG00000051969
AA Change: T666A
| 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 damaging
Transcript: ENSMUST00000185091
AA Change: T671A
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000138814
Gene: ENSMUSG00000051969
AA Change: T671A
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.4%
|
| Validation Efficiency |
97% (60/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
A |
G |
11: 48,839,247 (GRCm39) |
S447P |
possibly damaging |
Het |
| 9930111J21Rik2 |
A |
G |
11: 48,911,144 (GRCm39) |
F430L |
probably benign |
Het |
| Acap2 |
A |
G |
16: 30,938,233 (GRCm39) |
V297A |
probably damaging |
Het |
| Adam3 |
G |
A |
8: 25,179,479 (GRCm39) |
R613C |
possibly damaging |
Het |
| Akt1 |
C |
T |
12: 112,626,071 (GRCm39) |
R67Q |
probably benign |
Het |
| Ambp |
T |
C |
4: 63,069,702 (GRCm39) |
Y108C |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,061,090 (GRCm39) |
I3158V |
probably benign |
Het |
| Bank1 |
T |
C |
3: 136,031,679 (GRCm39) |
T8A |
probably benign |
Het |
| Casp8ap2 |
T |
C |
4: 32,644,560 (GRCm39) |
V1211A |
probably benign |
Het |
| Ccdc88a |
G |
T |
11: 29,413,546 (GRCm39) |
E695* |
probably null |
Het |
| Cep68 |
A |
C |
11: 20,189,888 (GRCm39) |
S375A |
probably benign |
Het |
| Cfap44 |
A |
G |
16: 44,236,375 (GRCm39) |
I417V |
probably benign |
Het |
| Chrna2 |
T |
A |
14: 66,379,677 (GRCm39) |
H5Q |
probably benign |
Het |
| Cog7 |
A |
T |
7: 121,536,193 (GRCm39) |
I549K |
probably damaging |
Het |
| Col28a1 |
C |
A |
6: 8,083,783 (GRCm39) |
S558I |
possibly damaging |
Het |
| Cyp4f14 |
A |
G |
17: 33,125,505 (GRCm39) |
I385T |
probably damaging |
Het |
| Dynlt4 |
A |
G |
4: 116,985,504 (GRCm39) |
E109G |
possibly damaging |
Het |
| Erap1 |
T |
A |
13: 74,814,627 (GRCm39) |
V451E |
probably benign |
Het |
| Frem1 |
G |
T |
4: 82,831,795 (GRCm39) |
T1988K |
probably benign |
Het |
| Gm10277 |
TC |
T |
11: 77,676,828 (GRCm39) |
|
probably null |
Het |
| Gm5616 |
A |
G |
9: 48,361,928 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5709 |
T |
C |
3: 59,543,142 (GRCm39) |
|
noncoding transcript |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Hsd11b1 |
T |
C |
1: 192,922,686 (GRCm39) |
T124A |
probably benign |
Het |
| Itpr3 |
T |
A |
17: 27,321,785 (GRCm39) |
M1054K |
possibly damaging |
Het |
| Kars1 |
T |
C |
8: 112,728,484 (GRCm39) |
N200S |
probably benign |
Het |
| Kdm2a |
C |
A |
19: 4,372,492 (GRCm39) |
R951L |
probably damaging |
Het |
| Ldhd |
T |
A |
8: 112,356,578 (GRCm39) |
H61L |
probably damaging |
Het |
| Macf1 |
G |
T |
4: 123,366,523 (GRCm39) |
A2746E |
probably damaging |
Het |
| Micall2 |
A |
G |
5: 139,703,266 (GRCm39) |
V190A |
possibly damaging |
Het |
| Mis18bp1 |
A |
T |
12: 65,195,883 (GRCm39) |
V627E |
probably damaging |
Het |
| Muc4 |
A |
T |
16: 32,574,054 (GRCm39) |
T711S |
probably benign |
Het |
| Notch4 |
T |
C |
17: 34,806,502 (GRCm39) |
L1813P |
probably damaging |
Het |
| Nox3 |
A |
G |
17: 3,744,296 (GRCm39) |
|
probably benign |
Het |
| Or4b1d |
G |
T |
2: 89,969,200 (GRCm39) |
C94* |
probably null |
Het |
| Or5p63 |
A |
G |
7: 107,811,049 (GRCm39) |
L229P |
probably damaging |
Het |
| Or6c1b |
T |
A |
10: 129,273,451 (GRCm39) |
Y257N |
probably damaging |
Het |
| Osbpl2 |
C |
A |
2: 179,791,969 (GRCm39) |
|
probably null |
Het |
| Pamr1 |
T |
A |
2: 102,464,880 (GRCm39) |
M343K |
probably benign |
Het |
| Pcdh15 |
T |
G |
10: 74,467,025 (GRCm39) |
S1684A |
possibly damaging |
Het |
| Pgr |
T |
A |
9: 8,958,399 (GRCm39) |
V802D |
probably damaging |
Het |
| Pgs1 |
A |
G |
11: 117,893,228 (GRCm39) |
E55G |
probably benign |
Het |
| Pkd2 |
T |
A |
5: 104,614,744 (GRCm39) |
|
probably null |
Het |
| Ppp3r2 |
T |
C |
4: 49,681,723 (GRCm39) |
I76V |
probably benign |
Het |
| Ptprd |
C |
T |
4: 75,875,341 (GRCm39) |
E1240K |
probably damaging |
Het |
| Recql5 |
G |
A |
11: 115,784,466 (GRCm39) |
T878I |
probably benign |
Het |
| Rnf17 |
A |
G |
14: 56,669,036 (GRCm39) |
D233G |
possibly damaging |
Het |
| Sectm1a |
A |
G |
11: 120,960,408 (GRCm39) |
|
probably benign |
Het |
| Smo |
A |
G |
6: 29,754,715 (GRCm39) |
N262D |
possibly damaging |
Het |
| Srcin1 |
A |
G |
11: 97,416,872 (GRCm39) |
S931P |
probably benign |
Het |
| Tcof1 |
C |
T |
18: 60,966,605 (GRCm39) |
G329R |
probably damaging |
Het |
| Thsd7a |
G |
A |
6: 12,327,535 (GRCm39) |
H1446Y |
probably benign |
Het |
| Tmem171 |
C |
A |
13: 98,828,733 (GRCm39) |
W139L |
probably damaging |
Het |
| Vmn2r101 |
C |
T |
17: 19,810,368 (GRCm39) |
R385* |
probably null |
Het |
| Vps13c |
A |
T |
9: 67,843,567 (GRCm39) |
|
probably benign |
Het |
| Wdr87-ps |
G |
T |
7: 29,230,959 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp287 |
A |
C |
11: 62,605,808 (GRCm39) |
Y366* |
probably null |
Het |
| Zfp456 |
A |
T |
13: 67,514,616 (GRCm39) |
C363* |
probably null |
Het |
| Zfp523 |
A |
G |
17: 28,419,978 (GRCm39) |
|
probably benign |
Het |
| Zfp667 |
A |
C |
7: 6,308,416 (GRCm39) |
K361N |
possibly damaging |
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 |
|
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 |
|
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'- TCAAGTACTATGAAGCTAGAGATGC -3'
(R):5'- GAAACTGGTGAGAAAGCCCC -3'
Sequencing Primer
(F):5'- CTAGAGATGCTATTGAAGGAGGTACC -3'
(R):5'- CCAAAACTCAGTACCGTGTGG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation