Incidental Mutation 'R0944:Tlr11'
| ID |
82022 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tlr11
|
| Ensembl Gene |
ENSMUSG00000051969 |
| Gene Name |
toll-like receptor 11 |
| Synonyms |
LOC239081 |
| MMRRC Submission |
039083-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0944 (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 50599793 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 593
(N593S)
|
| 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: N588S
PolyPhen 2
Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000068906
Gene: ENSMUSG00000051969
AA Change: N588S
| 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: N593S
PolyPhen 2
Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000138814
Gene: ENSMUSG00000051969
AA Change: N593S
| 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: 99.7%
- 3x: 99.1%
- 10x: 97.3%
- 20x: 94.3%
|
| Validation Efficiency |
100% (51/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110018I06Rik |
G |
A |
12: 107,455,268 (GRCm39) |
R118K |
unknown |
Het |
| Abcc6 |
T |
A |
7: 45,664,929 (GRCm39) |
I301F |
possibly damaging |
Het |
| Akap9 |
C |
A |
5: 4,114,742 (GRCm39) |
|
probably null |
Het |
| Alg6 |
A |
G |
4: 99,650,297 (GRCm39) |
I506V |
probably benign |
Het |
| B3gat1 |
C |
T |
9: 26,668,237 (GRCm39) |
R276C |
probably damaging |
Het |
| Camk1 |
A |
G |
6: 113,315,352 (GRCm39) |
Y105H |
probably damaging |
Het |
| Ccdc81 |
T |
C |
7: 89,515,777 (GRCm39) |
N634S |
probably damaging |
Het |
| Clcn1 |
C |
A |
6: 42,290,075 (GRCm39) |
Q837K |
probably benign |
Het |
| Clec16a |
A |
G |
16: 10,506,510 (GRCm39) |
|
probably benign |
Het |
| Col22a1 |
T |
C |
15: 71,753,511 (GRCm39) |
I130V |
probably benign |
Het |
| Coro2b |
T |
C |
9: 62,335,263 (GRCm39) |
S308G |
probably benign |
Het |
| Cpxm1 |
A |
G |
2: 130,239,423 (GRCm39) |
W2R |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,475,227 (GRCm39) |
N3364S |
probably damaging |
Het |
| Dgkq |
A |
G |
5: 108,804,331 (GRCm39) |
V131A |
probably damaging |
Het |
| Dnai1 |
A |
G |
4: 41,629,997 (GRCm39) |
S469G |
probably benign |
Het |
| Efcab3 |
T |
G |
11: 104,601,556 (GRCm39) |
|
probably null |
Het |
| Eml4 |
G |
A |
17: 83,785,489 (GRCm39) |
E885K |
probably benign |
Het |
| Etfa |
A |
T |
9: 55,396,122 (GRCm39) |
I148N |
probably damaging |
Het |
| Gpbar1 |
A |
G |
1: 74,318,681 (GRCm39) |
D308G |
probably benign |
Het |
| Gprin3 |
T |
C |
6: 59,330,900 (GRCm39) |
E469G |
possibly damaging |
Het |
| Igkv1-115 |
T |
C |
6: 68,138,667 (GRCm39) |
V90A |
probably damaging |
Het |
| Ints2 |
A |
G |
11: 86,135,289 (GRCm39) |
V375A |
possibly damaging |
Het |
| Mindy3 |
T |
C |
2: 12,400,993 (GRCm39) |
M242V |
possibly damaging |
Het |
| Or11m3 |
A |
G |
15: 98,395,565 (GRCm39) |
I71V |
probably benign |
Het |
| Or1n1b |
T |
C |
2: 36,780,698 (GRCm39) |
H54R |
probably damaging |
Het |
| Or5t9 |
A |
C |
2: 86,659,281 (GRCm39) |
I62L |
probably benign |
Het |
| P3h1 |
G |
A |
4: 119,095,956 (GRCm39) |
E355K |
probably benign |
Het |
| Paxbp1 |
T |
C |
16: 90,820,315 (GRCm39) |
T703A |
probably benign |
Het |
| Pcdh15 |
A |
T |
10: 74,046,302 (GRCm39) |
Y193F |
probably damaging |
Het |
| Pdxdc1 |
A |
G |
16: 13,656,233 (GRCm39) |
V613A |
probably damaging |
Het |
| Plekha5 |
T |
C |
6: 140,515,922 (GRCm39) |
|
probably benign |
Het |
| Pmel |
A |
T |
10: 128,551,126 (GRCm39) |
Q123L |
possibly damaging |
Het |
| Prl6a1 |
T |
C |
13: 27,502,149 (GRCm39) |
|
probably benign |
Het |
| Rcan1 |
T |
C |
16: 92,190,379 (GRCm39) |
T187A |
probably damaging |
Het |
| Rp1l1 |
A |
G |
14: 64,269,681 (GRCm39) |
S1756G |
probably benign |
Het |
| Runx2 |
A |
T |
17: 44,919,123 (GRCm39) |
M405K |
probably damaging |
Het |
| Serinc5 |
T |
C |
13: 92,797,613 (GRCm39) |
Y39H |
probably damaging |
Het |
| Sgsm1 |
G |
A |
5: 113,413,740 (GRCm39) |
T676I |
probably benign |
Het |
| Slc6a15 |
G |
C |
10: 103,245,657 (GRCm39) |
V547L |
probably benign |
Het |
| Slk |
T |
C |
19: 47,597,432 (GRCm39) |
I80T |
probably damaging |
Het |
| Spice1 |
A |
G |
16: 44,205,124 (GRCm39) |
N810S |
probably benign |
Het |
| Spred2 |
A |
G |
11: 19,951,104 (GRCm39) |
|
probably benign |
Het |
| Tbc1d4 |
C |
G |
14: 101,716,656 (GRCm39) |
|
probably benign |
Het |
| Tdrd7 |
G |
A |
4: 46,029,762 (GRCm39) |
V1032M |
probably benign |
Het |
| Trpa1 |
T |
C |
1: 14,982,585 (GRCm39) |
|
probably null |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Usp25 |
T |
C |
16: 76,878,335 (GRCm39) |
|
probably benign |
Het |
| Vmn2r97 |
T |
A |
17: 19,167,665 (GRCm39) |
S640T |
probably benign |
Het |
| Zc3h6 |
A |
G |
2: 128,848,736 (GRCm39) |
Y321C |
probably damaging |
Het |
| Zfp329 |
T |
A |
7: 12,545,395 (GRCm39) |
N43I |
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 |
|
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 |
|
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'- ACCTTGAACCTTCTGGGCACCTAC -3'
(R):5'- AGCGCCCTTTCAGAGTTGAAGAGC -3'
Sequencing Primer
(F):5'- CTTAGGCATACAACTTCAGGGTC -3'
(R):5'- AGCAGCAGTTTGAGGTCC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation