Incidental Mutation 'R8144:Tlr11'
| ID |
632705 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tlr11
|
| Ensembl Gene |
ENSMUSG00000051969 |
| Gene Name |
toll-like receptor 11 |
| Synonyms |
LOC239081 |
| MMRRC Submission |
067572-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8144 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
50595371-50601120 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 50599945 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 644
(S644P)
|
| 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: S639P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000068906
Gene: ENSMUSG00000051969
AA Change: S639P
| 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: S644P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000138814
Gene: ENSMUSG00000051969
AA Change: S644P
| 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 |
|
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.4%
- 10x: 98.0%
- 20x: 90.8%
|
| Validation Efficiency |
96% (50/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
A |
C |
9: 57,166,388 (GRCm39) |
|
probably benign |
Het |
| A2ml1 |
T |
C |
6: 128,546,962 (GRCm39) |
D389G |
possibly damaging |
Het |
| Acy1 |
A |
T |
9: 106,313,319 (GRCm39) |
|
probably null |
Het |
| Adcy2 |
G |
A |
13: 68,882,754 (GRCm39) |
Q328* |
probably null |
Het |
| Arhgef40 |
T |
A |
14: 52,235,632 (GRCm39) |
V1171E |
probably damaging |
Het |
| Arrb1 |
G |
A |
7: 99,247,659 (GRCm39) |
|
probably null |
Het |
| Atxn1l |
G |
A |
8: 110,459,233 (GRCm39) |
A343V |
probably benign |
Het |
| C3 |
A |
T |
17: 57,533,276 (GRCm39) |
V109E |
probably damaging |
Het |
| Clptm1 |
A |
T |
7: 19,367,827 (GRCm39) |
V595E |
possibly damaging |
Het |
| Cpne6 |
T |
C |
14: 55,750,066 (GRCm39) |
C66R |
possibly damaging |
Het |
| Dhrs3 |
T |
C |
4: 144,646,474 (GRCm39) |
S175P |
probably damaging |
Het |
| Eif2b1 |
A |
T |
5: 124,711,208 (GRCm39) |
M187K |
probably damaging |
Het |
| Eln |
CTCCAGCTCCGAT |
C |
5: 134,758,003 (GRCm39) |
|
probably benign |
Het |
| Evc2 |
T |
C |
5: 37,537,911 (GRCm39) |
L533P |
probably damaging |
Het |
| Fam221b |
T |
G |
4: 43,665,465 (GRCm39) |
Q331P |
probably damaging |
Het |
| Fam221b |
G |
T |
4: 43,665,466 (GRCm39) |
Q331K |
probably benign |
Het |
| Golga3 |
T |
C |
5: 110,333,745 (GRCm39) |
V127A |
probably damaging |
Het |
| Itsn1 |
C |
T |
16: 91,708,893 (GRCm39) |
P1719L |
unknown |
Het |
| Lars1 |
T |
G |
18: 42,351,591 (GRCm39) |
H871P |
probably damaging |
Het |
| Mamdc4 |
A |
T |
2: 25,457,019 (GRCm39) |
V590E |
probably damaging |
Het |
| Mdga2 |
A |
G |
12: 66,702,037 (GRCm39) |
I457T |
probably damaging |
Het |
| Morc2a |
T |
C |
11: 3,634,039 (GRCm39) |
V717A |
probably benign |
Het |
| Or1p1c |
C |
A |
11: 74,160,384 (GRCm39) |
H56Q |
probably damaging |
Het |
| Or8d2b |
A |
T |
9: 38,788,662 (GRCm39) |
L63F |
probably damaging |
Het |
| Pank4 |
A |
T |
4: 155,054,537 (GRCm39) |
Q170L |
probably benign |
Het |
| Pde4dip |
G |
T |
3: 97,622,742 (GRCm39) |
A1489D |
probably damaging |
Het |
| Pde8b |
A |
T |
13: 95,359,278 (GRCm39) |
I15N |
probably damaging |
Het |
| Pex16 |
A |
C |
2: 92,205,985 (GRCm39) |
E26A |
probably damaging |
Het |
| Poglut2 |
A |
G |
1: 44,149,966 (GRCm39) |
Y408H |
probably damaging |
Het |
| Polq |
C |
T |
16: 36,849,846 (GRCm39) |
P367S |
probably benign |
Het |
| Polr1a |
T |
A |
6: 71,927,600 (GRCm39) |
V817E |
probably benign |
Het |
| Pthlh |
T |
C |
6: 147,158,663 (GRCm39) |
D99G |
probably damaging |
Het |
| Rasgrp4 |
A |
T |
7: 28,848,542 (GRCm39) |
S556C |
probably damaging |
Het |
| Rhobtb1 |
G |
T |
10: 69,125,388 (GRCm39) |
V653L |
possibly damaging |
Het |
| Rin2 |
G |
A |
2: 145,664,225 (GRCm39) |
R33Q |
probably benign |
Het |
| Rmc1 |
A |
T |
18: 12,318,704 (GRCm39) |
|
probably null |
Het |
| Sh3rf2 |
C |
T |
18: 42,274,124 (GRCm39) |
T430I |
probably benign |
Het |
| Slc14a2 |
A |
G |
18: 78,227,759 (GRCm39) |
|
probably null |
Het |
| Slc39a8 |
C |
T |
3: 135,590,404 (GRCm39) |
Q366* |
probably null |
Het |
| Spata31h1 |
A |
T |
10: 82,130,433 (GRCm39) |
L859* |
probably null |
Het |
| Tagln3 |
G |
T |
16: 45,544,554 (GRCm39) |
A39D |
probably benign |
Het |
| Tfdp1 |
T |
A |
8: 13,423,015 (GRCm39) |
C307S |
probably benign |
Het |
| Tnpo3 |
T |
C |
6: 29,558,761 (GRCm39) |
D723G |
probably benign |
Het |
| Xpo5 |
A |
G |
17: 46,519,145 (GRCm39) |
N195D |
probably benign |
Het |
| Zfp11 |
T |
C |
5: 129,733,694 (GRCm39) |
Y589C |
possibly damaging |
Het |
| Zfp712 |
T |
C |
13: 67,189,172 (GRCm39) |
T452A |
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 |
|
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 |
|
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'- GACCTCTATCTATTTGGGATGCC -3'
(R):5'- GGAGTAGTCTGAGGCATTAGC -3'
Sequencing Primer
(F):5'- AGGCTACGTGTGCTAGAGC -3'
(R):5'- GCTATGCAAATGGATTTTTCCAGCC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation