Incidental Mutation 'IGL02090:Tlr11'
ID |
279428 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tlr11
|
Ensembl Gene |
ENSMUSG00000051969 |
Gene Name |
toll-like receptor 11 |
Synonyms |
LOC239081 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02090
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
50595371-50601120 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 50600489 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 825
(D825G)
|
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: D820G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000068906 Gene: ENSMUSG00000051969 AA Change: D820G
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: D825G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000138814 Gene: ENSMUSG00000051969 AA Change: D825G
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ace2 |
A |
G |
X: 162,968,701 (GRCm39) |
T482A |
probably damaging |
Het |
Adh1 |
T |
C |
3: 137,988,546 (GRCm39) |
I173T |
possibly damaging |
Het |
Apoa1 |
T |
C |
9: 46,140,548 (GRCm39) |
S60P |
possibly damaging |
Het |
Blnk |
A |
G |
19: 40,922,929 (GRCm39) |
V396A |
probably benign |
Het |
Borcs8 |
A |
G |
8: 70,619,030 (GRCm39) |
D204G |
probably damaging |
Het |
Calhm5 |
G |
A |
10: 33,972,261 (GRCm39) |
P58L |
probably damaging |
Het |
Cbfa2t2 |
A |
G |
2: 154,373,336 (GRCm39) |
|
probably benign |
Het |
Cdkal1 |
T |
G |
13: 29,701,493 (GRCm39) |
I319L |
probably benign |
Het |
Celsr1 |
T |
A |
15: 85,791,922 (GRCm39) |
T2560S |
possibly damaging |
Het |
Chd8 |
A |
G |
14: 52,464,691 (GRCm39) |
|
probably null |
Het |
Cyp4f39 |
T |
C |
17: 32,689,932 (GRCm39) |
|
probably benign |
Het |
Dnah10 |
A |
G |
5: 124,866,876 (GRCm39) |
N2265S |
probably damaging |
Het |
Dnah5 |
C |
T |
15: 28,240,187 (GRCm39) |
|
probably benign |
Het |
Epgn |
G |
A |
5: 91,181,816 (GRCm39) |
G133E |
probably damaging |
Het |
Fdx2 |
C |
A |
9: 20,984,766 (GRCm39) |
V13F |
probably benign |
Het |
Gabarapl2 |
A |
G |
8: 112,667,831 (GRCm39) |
Y25C |
probably damaging |
Het |
Gigyf1 |
G |
A |
5: 137,523,826 (GRCm39) |
|
probably null |
Het |
Gm6040 |
G |
A |
8: 21,407,169 (GRCm39) |
|
probably benign |
Het |
Gm8229 |
T |
C |
14: 44,604,054 (GRCm39) |
L81P |
unknown |
Het |
Gstz1 |
A |
G |
12: 87,210,528 (GRCm39) |
E137G |
probably benign |
Het |
Htra1 |
T |
C |
7: 130,538,108 (GRCm39) |
V36A |
probably benign |
Het |
Ifnlr1 |
T |
C |
4: 135,432,578 (GRCm39) |
V338A |
probably benign |
Het |
Igsf8 |
A |
G |
1: 172,140,156 (GRCm39) |
|
probably benign |
Het |
Khdc1a |
T |
A |
1: 21,421,212 (GRCm39) |
F132L |
probably benign |
Het |
Kifc3 |
G |
A |
8: 95,829,108 (GRCm39) |
S561L |
probably damaging |
Het |
Mpi |
T |
C |
9: 57,457,936 (GRCm39) |
T89A |
probably benign |
Het |
Ncor2 |
A |
T |
5: 125,111,467 (GRCm39) |
M1281K |
probably damaging |
Het |
Or4c117 |
T |
C |
2: 88,956,021 (GRCm39) |
N18S |
probably benign |
Het |
Or4k49 |
G |
T |
2: 111,495,333 (GRCm39) |
C254F |
probably damaging |
Het |
Or6c213 |
T |
A |
10: 129,574,181 (GRCm39) |
I202L |
probably benign |
Het |
Or6c66b |
T |
C |
10: 129,377,176 (GRCm39) |
Y257H |
probably damaging |
Het |
Otog |
G |
A |
7: 45,949,571 (GRCm39) |
G2403D |
probably damaging |
Het |
Pdgfb |
C |
A |
15: 79,898,184 (GRCm39) |
A6S |
probably benign |
Het |
Pfkm |
T |
C |
15: 98,021,121 (GRCm39) |
|
probably null |
Het |
Plcb4 |
A |
G |
2: 135,789,041 (GRCm39) |
M274V |
probably benign |
Het |
Ppm1m |
A |
G |
9: 106,074,001 (GRCm39) |
|
probably null |
Het |
Rptn |
A |
G |
3: 93,304,041 (GRCm39) |
D458G |
possibly damaging |
Het |
Sertad3 |
C |
T |
7: 27,175,950 (GRCm39) |
S128F |
probably benign |
Het |
Sgo2b |
A |
T |
8: 64,380,123 (GRCm39) |
L903Q |
probably damaging |
Het |
Slc15a5 |
C |
T |
6: 138,020,598 (GRCm39) |
R245H |
probably benign |
Het |
Slc24a5 |
A |
T |
2: 124,910,218 (GRCm39) |
T40S |
probably benign |
Het |
Smchd1 |
T |
C |
17: 71,738,248 (GRCm39) |
N539S |
possibly damaging |
Het |
Top3b |
T |
G |
16: 16,709,334 (GRCm39) |
V674G |
possibly damaging |
Het |
Urb2 |
G |
A |
8: 124,754,976 (GRCm39) |
V228I |
probably benign |
Het |
Usp24 |
C |
T |
4: 106,268,623 (GRCm39) |
A2061V |
possibly damaging |
Het |
Wdr72 |
C |
A |
9: 74,062,212 (GRCm39) |
H453N |
possibly damaging |
Het |
Xkr9 |
T |
C |
1: 13,771,600 (GRCm39) |
M372T |
probably damaging |
Het |
Zc3h12d |
T |
G |
10: 7,743,096 (GRCm39) |
S289A |
probably benign |
Het |
Zfp607b |
A |
T |
7: 27,398,140 (GRCm39) |
M75L |
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 |
|
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 |
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 |
|
Posted On |
2015-04-16 |