Incidental Mutation 'R1726:Tlr11'
| ID |
198170 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tlr11
|
| Ensembl Gene |
ENSMUSG00000051969 |
| Gene Name |
toll-like receptor 11 |
| Synonyms |
LOC239081 |
| MMRRC Submission |
039758-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1726 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
50595371-50601120 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 50598998 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 328
(H328L)
|
| 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: H323L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000068906
Gene: ENSMUSG00000051969
AA Change: H323L
| 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: H328L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000138814
Gene: ENSMUSG00000051969
AA Change: H328L
| 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: 97.5%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.6%
|
| Validation Efficiency |
97% (63/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
G |
C |
12: 118,838,536 (GRCm39) |
|
probably null |
Het |
| Abcb5 |
A |
T |
12: 118,871,267 (GRCm39) |
S711T |
possibly damaging |
Het |
| Acoxl |
G |
A |
2: 127,722,366 (GRCm39) |
G216R |
probably damaging |
Het |
| Arhgef18 |
A |
T |
8: 3,504,228 (GRCm39) |
N949I |
possibly damaging |
Het |
| Bltp3a |
C |
A |
17: 28,105,225 (GRCm39) |
|
probably null |
Het |
| Brip1 |
A |
T |
11: 85,955,740 (GRCm39) |
S924R |
probably benign |
Het |
| Btf3 |
C |
T |
13: 98,452,804 (GRCm39) |
M1I |
probably null |
Het |
| Ccdc141 |
A |
G |
2: 76,938,700 (GRCm39) |
|
probably benign |
Het |
| Ccdc80 |
A |
T |
16: 44,916,368 (GRCm39) |
T375S |
probably benign |
Het |
| Ccl11 |
A |
G |
11: 81,952,546 (GRCm39) |
K40E |
possibly damaging |
Het |
| Chrnb2 |
A |
T |
3: 89,668,509 (GRCm39) |
C269S |
probably damaging |
Het |
| Dgat2 |
A |
G |
7: 98,831,623 (GRCm39) |
S33P |
possibly damaging |
Het |
| Dip2c |
A |
G |
13: 9,625,464 (GRCm39) |
D608G |
probably damaging |
Het |
| Dnah2 |
A |
T |
11: 69,388,715 (GRCm39) |
D889E |
probably damaging |
Het |
| Dvl2 |
A |
T |
11: 69,900,287 (GRCm39) |
T694S |
probably benign |
Het |
| Elapor1 |
A |
G |
3: 108,375,184 (GRCm39) |
I561T |
possibly damaging |
Het |
| Fbf1 |
A |
G |
11: 116,036,280 (GRCm39) |
V1100A |
probably benign |
Het |
| Galt |
G |
A |
4: 41,756,001 (GRCm39) |
W22* |
probably null |
Het |
| Garem1 |
C |
A |
18: 21,281,319 (GRCm39) |
V346L |
probably damaging |
Het |
| Gm10277 |
TC |
T |
11: 77,676,828 (GRCm39) |
|
probably null |
Het |
| Gm10762 |
A |
T |
2: 128,809,135 (GRCm39) |
|
probably benign |
Het |
| Gm21900 |
A |
G |
Y: 10,616,358 (GRCm39) |
|
probably null |
Het |
| Gm2663 |
T |
C |
6: 40,974,960 (GRCm39) |
Y37C |
probably damaging |
Het |
| Gm42791 |
C |
A |
5: 148,896,311 (GRCm39) |
|
probably benign |
Het |
| Gm5134 |
C |
A |
10: 75,828,361 (GRCm39) |
P314T |
possibly damaging |
Het |
| Gtf3c2 |
T |
C |
5: 31,326,467 (GRCm39) |
E348G |
possibly damaging |
Het |
| H2-T24 |
T |
A |
17: 36,326,513 (GRCm39) |
M129L |
probably benign |
Het |
| Ikzf2 |
C |
A |
1: 69,587,847 (GRCm39) |
R214L |
probably damaging |
Het |
| Insyn2a |
T |
C |
7: 134,500,867 (GRCm39) |
|
probably benign |
Het |
| Itpr3 |
T |
A |
17: 27,330,664 (GRCm39) |
L1691Q |
probably damaging |
Het |
| Kmt2c |
C |
T |
5: 25,520,003 (GRCm39) |
G2036R |
probably damaging |
Het |
| Lrp10 |
T |
C |
14: 54,707,113 (GRCm39) |
L650P |
probably damaging |
Het |
| Mcm9 |
G |
A |
10: 53,413,977 (GRCm39) |
P368S |
possibly damaging |
Het |
| Mob3b |
A |
G |
4: 34,954,028 (GRCm39) |
M214T |
probably benign |
Het |
| Mrpl1 |
T |
C |
5: 96,371,686 (GRCm39) |
V71A |
probably benign |
Het |
| Mrpl57 |
A |
G |
14: 58,064,092 (GRCm39) |
E40G |
probably damaging |
Het |
| Mtmr9 |
A |
G |
14: 63,774,547 (GRCm39) |
V162A |
possibly damaging |
Het |
| Nalcn |
A |
T |
14: 123,545,816 (GRCm39) |
V1065E |
probably damaging |
Het |
| Nemp2 |
A |
G |
1: 52,676,554 (GRCm39) |
D42G |
probably damaging |
Het |
| Npepps |
A |
G |
11: 97,115,495 (GRCm39) |
L623P |
probably damaging |
Het |
| Olig3 |
A |
G |
10: 19,232,482 (GRCm39) |
S36G |
probably benign |
Het |
| Or10j5 |
A |
G |
1: 172,784,658 (GRCm39) |
T99A |
probably benign |
Het |
| Or11g26 |
T |
A |
14: 50,753,636 (GRCm39) |
|
probably null |
Het |
| Or5e1 |
T |
C |
7: 108,354,215 (GRCm39) |
S51P |
probably benign |
Het |
| Pcdhb14 |
T |
A |
18: 37,582,647 (GRCm39) |
Y584* |
probably null |
Het |
| Pcyox1l |
T |
C |
18: 61,830,849 (GRCm39) |
Y341C |
probably benign |
Het |
| Pdxdc1 |
A |
C |
16: 13,656,164 (GRCm39) |
|
probably null |
Het |
| Pias4 |
A |
C |
10: 80,991,689 (GRCm39) |
V313G |
probably damaging |
Het |
| Pkd1 |
C |
T |
17: 24,783,150 (GRCm39) |
T81M |
probably damaging |
Het |
| Ptprm |
T |
C |
17: 67,349,322 (GRCm39) |
I40M |
probably damaging |
Het |
| Reep6 |
T |
C |
10: 80,170,954 (GRCm39) |
S277P |
probably benign |
Het |
| Shank3 |
A |
G |
15: 89,442,189 (GRCm39) |
E1694G |
probably damaging |
Het |
| Shq1 |
T |
C |
6: 100,613,996 (GRCm39) |
Y274C |
probably benign |
Het |
| Slc12a6 |
T |
A |
2: 112,177,771 (GRCm39) |
I630N |
probably damaging |
Het |
| Slc14a1 |
T |
A |
18: 78,159,681 (GRCm39) |
N15Y |
probably benign |
Het |
| Slc17a4 |
A |
T |
13: 24,089,574 (GRCm39) |
Y114* |
probably null |
Het |
| Slc26a1 |
C |
T |
5: 108,821,541 (GRCm39) |
G116D |
probably damaging |
Het |
| Smg8 |
G |
T |
11: 86,971,439 (GRCm39) |
Y777* |
probably null |
Het |
| Ube2c |
G |
T |
2: 164,613,237 (GRCm39) |
A52S |
probably damaging |
Het |
| Unc5c |
A |
G |
3: 141,523,864 (GRCm39) |
S806G |
probably damaging |
Het |
| Zfp874b |
A |
T |
13: 67,622,839 (GRCm39) |
I153K |
probably damaging |
Het |
| Zkscan2 |
T |
A |
7: 123,089,046 (GRCm39) |
E408D |
probably 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 |
|
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'- CATTTCCTCTCCCTTGTGGGAACAG -3'
(R):5'- TGCCCAGAAGGTTCAAGGTAGTCAG -3'
Sequencing Primer
(F):5'- CTCCCTTGTGGGAACAGGAATAG -3'
(R):5'- GAGATGTTATTGCCACTCAACCAG -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation