Incidental Mutation 'IGL03399:Tril'
ID |
421370 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tril
|
Ensembl Gene |
ENSMUSG00000043496 |
Gene Name |
TLR4 interactor with leucine-rich repeats |
Synonyms |
1200009O22Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.186)
|
Stock # |
IGL03399
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
53792453-53797810 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 53797042 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 60
(D60G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116056
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000127748]
|
AlphaFold |
Q9DBY4 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000104970
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127748
AA Change: D60G
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000116056 Gene: ENSMUSG00000043496 AA Change: D60G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
LRRNT
|
26 |
58 |
1.91e-1 |
SMART |
LRR_TYP
|
82 |
105 |
3.49e-5 |
SMART |
LRR_TYP
|
106 |
129 |
2.91e-2 |
SMART |
LRR
|
130 |
153 |
9.96e-1 |
SMART |
LRR
|
154 |
177 |
2.49e-1 |
SMART |
LRR_TYP
|
178 |
201 |
1.67e-2 |
SMART |
LRR
|
202 |
227 |
1.09e2 |
SMART |
LRR_TYP
|
228 |
251 |
4.47e-3 |
SMART |
LRR_TYP
|
252 |
275 |
1.84e-4 |
SMART |
LRR
|
276 |
299 |
7.05e-1 |
SMART |
LRR_TYP
|
300 |
323 |
1.3e-4 |
SMART |
LRR
|
325 |
347 |
1.12e1 |
SMART |
LRRCT
|
359 |
415 |
1.02e-2 |
SMART |
low complexity region
|
448 |
465 |
N/A |
INTRINSIC |
low complexity region
|
488 |
506 |
N/A |
INTRINSIC |
low complexity region
|
554 |
569 |
N/A |
INTRINSIC |
Blast:FN3
|
582 |
667 |
8e-34 |
BLAST |
transmembrane domain
|
695 |
717 |
N/A |
INTRINSIC |
low complexity region
|
720 |
732 |
N/A |
INTRINSIC |
low complexity region
|
788 |
796 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204633
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204648
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TRIL is a component of the TLR4 (MIM 603030) complex and is induced in a number of cell types by lipopolysaccharide (LPS) (Carpenter et al., 2009 [PubMed 19710467]).[supplied by OMIM, Apr 2010]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acss1 |
C |
T |
2: 150,479,798 (GRCm39) |
G303D |
probably damaging |
Het |
Adam6b |
A |
T |
12: 113,454,728 (GRCm39) |
Y515F |
probably damaging |
Het |
Birc2 |
A |
T |
9: 7,821,088 (GRCm39) |
L412Q |
probably damaging |
Het |
Birc6 |
T |
C |
17: 74,901,368 (GRCm39) |
I1144T |
probably benign |
Het |
Dip2b |
A |
T |
15: 100,073,208 (GRCm39) |
N770I |
possibly damaging |
Het |
Dmxl2 |
T |
C |
9: 54,353,956 (GRCm39) |
N671D |
probably damaging |
Het |
Dpyd |
A |
G |
3: 119,108,426 (GRCm39) |
D823G |
probably damaging |
Het |
Eif5 |
A |
G |
12: 111,511,024 (GRCm39) |
D367G |
probably damaging |
Het |
Exog |
T |
G |
9: 119,276,017 (GRCm39) |
S56A |
possibly damaging |
Het |
Hap1 |
C |
A |
11: 100,245,093 (GRCm39) |
M39I |
possibly damaging |
Het |
Hsd17b6 |
A |
T |
10: 127,829,625 (GRCm39) |
H192Q |
probably benign |
Het |
Insrr |
T |
A |
3: 87,716,638 (GRCm39) |
L622Q |
probably null |
Het |
Kars1 |
G |
T |
8: 112,734,926 (GRCm39) |
A20E |
probably benign |
Het |
Kyat3 |
A |
G |
3: 142,431,771 (GRCm39) |
D197G |
probably damaging |
Het |
Mapk9 |
T |
A |
11: 49,774,126 (GRCm39) |
|
probably benign |
Het |
Naip1 |
A |
T |
13: 100,545,426 (GRCm39) |
D1367E |
probably damaging |
Het |
Oaz1 |
G |
A |
10: 80,664,176 (GRCm39) |
S84N |
probably benign |
Het |
Ofcc1 |
T |
C |
13: 40,296,314 (GRCm39) |
R507G |
possibly damaging |
Het |
Or1j16 |
T |
G |
2: 36,530,894 (GRCm39) |
V281G |
possibly damaging |
Het |
Or5p6 |
A |
G |
7: 107,630,789 (GRCm39) |
F254L |
probably benign |
Het |
Or8g24 |
A |
T |
9: 38,989,533 (GRCm39) |
C169* |
probably null |
Het |
Pclo |
T |
A |
5: 14,816,745 (GRCm39) |
D4540E |
unknown |
Het |
Ppp6r1 |
A |
G |
7: 4,646,251 (GRCm39) |
V150A |
probably damaging |
Het |
Prdm2 |
T |
C |
4: 142,861,658 (GRCm39) |
D544G |
probably benign |
Het |
Rab27b |
A |
G |
18: 70,120,067 (GRCm39) |
I128T |
possibly damaging |
Het |
Scart2 |
G |
A |
7: 139,827,869 (GRCm39) |
E26K |
probably benign |
Het |
Slc25a1 |
G |
T |
16: 17,743,684 (GRCm39) |
T195K |
probably damaging |
Het |
Tex10 |
T |
C |
4: 48,459,915 (GRCm39) |
N479D |
probably benign |
Het |
Thsd7b |
G |
T |
1: 129,556,622 (GRCm39) |
W326L |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,615,625 (GRCm39) |
R14984H |
probably damaging |
Het |
Uba2 |
G |
A |
7: 33,843,939 (GRCm39) |
T12I |
probably damaging |
Het |
Vmn2r107 |
T |
C |
17: 20,578,220 (GRCm39) |
|
probably benign |
Het |
Vti1a |
A |
G |
19: 55,487,703 (GRCm39) |
K183R |
probably benign |
Het |
Zkscan16 |
T |
C |
4: 58,956,915 (GRCm39) |
V399A |
probably benign |
Het |
|
Other mutations in Tril |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01103:Tril
|
APN |
6 |
53,796,023 (GRCm39) |
missense |
probably damaging |
1.00 |
R0036:Tril
|
UTSW |
6 |
53,795,618 (GRCm39) |
missense |
probably benign |
|
R0099:Tril
|
UTSW |
6 |
53,795,348 (GRCm39) |
missense |
probably damaging |
0.99 |
R0448:Tril
|
UTSW |
6 |
53,794,793 (GRCm39) |
makesense |
probably null |
|
R0759:Tril
|
UTSW |
6 |
53,795,012 (GRCm39) |
missense |
probably damaging |
0.98 |
R1296:Tril
|
UTSW |
6 |
53,795,012 (GRCm39) |
missense |
probably damaging |
0.98 |
R1472:Tril
|
UTSW |
6 |
53,795,012 (GRCm39) |
missense |
probably damaging |
0.98 |
R1888:Tril
|
UTSW |
6 |
53,796,577 (GRCm39) |
missense |
probably damaging |
1.00 |
R1888:Tril
|
UTSW |
6 |
53,796,577 (GRCm39) |
missense |
probably damaging |
1.00 |
R2108:Tril
|
UTSW |
6 |
53,796,068 (GRCm39) |
missense |
probably damaging |
1.00 |
R2290:Tril
|
UTSW |
6 |
53,795,012 (GRCm39) |
missense |
probably damaging |
0.98 |
R2291:Tril
|
UTSW |
6 |
53,795,012 (GRCm39) |
missense |
probably damaging |
0.98 |
R2367:Tril
|
UTSW |
6 |
53,796,151 (GRCm39) |
missense |
probably damaging |
1.00 |
R4021:Tril
|
UTSW |
6 |
53,796,004 (GRCm39) |
missense |
probably damaging |
1.00 |
R4753:Tril
|
UTSW |
6 |
53,796,698 (GRCm39) |
missense |
probably damaging |
1.00 |
R4755:Tril
|
UTSW |
6 |
53,795,449 (GRCm39) |
missense |
probably damaging |
0.99 |
R4981:Tril
|
UTSW |
6 |
53,795,905 (GRCm39) |
missense |
probably benign |
0.10 |
R5468:Tril
|
UTSW |
6 |
53,796,632 (GRCm39) |
missense |
probably damaging |
1.00 |
R5653:Tril
|
UTSW |
6 |
53,794,970 (GRCm39) |
missense |
probably benign |
0.32 |
R6434:Tril
|
UTSW |
6 |
53,795,493 (GRCm39) |
missense |
probably damaging |
1.00 |
R6724:Tril
|
UTSW |
6 |
53,796,559 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7401:Tril
|
UTSW |
6 |
53,795,266 (GRCm39) |
missense |
possibly damaging |
0.54 |
R7582:Tril
|
UTSW |
6 |
53,795,921 (GRCm39) |
missense |
probably benign |
|
R8339:Tril
|
UTSW |
6 |
53,794,918 (GRCm39) |
missense |
possibly damaging |
0.84 |
R8544:Tril
|
UTSW |
6 |
53,796,295 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8721:Tril
|
UTSW |
6 |
53,797,183 (GRCm39) |
missense |
probably benign |
0.02 |
R8879:Tril
|
UTSW |
6 |
53,796,569 (GRCm39) |
missense |
probably damaging |
0.99 |
R8904:Tril
|
UTSW |
6 |
53,797,202 (GRCm39) |
missense |
possibly damaging |
0.51 |
R9147:Tril
|
UTSW |
6 |
53,795,137 (GRCm39) |
missense |
probably damaging |
1.00 |
R9148:Tril
|
UTSW |
6 |
53,795,137 (GRCm39) |
missense |
probably damaging |
1.00 |
R9740:Tril
|
UTSW |
6 |
53,795,104 (GRCm39) |
missense |
possibly damaging |
0.90 |
Z1088:Tril
|
UTSW |
6 |
53,795,905 (GRCm39) |
missense |
probably benign |
0.45 |
Z1177:Tril
|
UTSW |
6 |
53,796,629 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
Posted On |
2016-08-02 |