Incidental Mutation 'R0036:Tril'
| ID |
201476 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tril
|
| Ensembl Gene |
ENSMUSG00000043496 |
| Gene Name |
TLR4 interactor with leucine-rich repeats |
| Synonyms |
1200009O22Rik |
| MMRRC Submission |
038330-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.186)
|
| Stock # |
R0036 (G1)
|
| Quality Score |
24 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
53792453-53797810 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 53795618 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 535
(A535T)
|
| 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: A535T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000116056
Gene: ENSMUSG00000043496
AA Change: A535T
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.0%
|
| Validation Efficiency |
97% (33/34) |
| 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: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ctsq |
C |
T |
13: 61,185,485 (GRCm39) |
|
probably null |
Het |
| Egln3 |
A |
T |
12: 54,232,378 (GRCm39) |
D142E |
possibly damaging |
Het |
| Fam120a |
G |
A |
13: 49,042,740 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
A |
G |
4: 137,270,160 (GRCm39) |
T2373A |
probably damaging |
Het |
| Pcyox1l |
G |
T |
18: 61,830,492 (GRCm39) |
T460K |
probably benign |
Het |
| Phrf1 |
T |
C |
7: 140,841,693 (GRCm39) |
M1435T |
probably damaging |
Het |
| Rnf157 |
A |
G |
11: 116,287,128 (GRCm39) |
Y32H |
probably damaging |
Het |
| Rnf224 |
C |
T |
2: 25,126,143 (GRCm39) |
R70Q |
probably damaging |
Het |
| Rusc2 |
C |
A |
4: 43,424,009 (GRCm39) |
D1054E |
probably damaging |
Het |
| S100a16 |
T |
A |
3: 90,449,763 (GRCm39) |
M82K |
probably benign |
Het |
| Serpina3j |
A |
G |
12: 104,283,606 (GRCm39) |
T235A |
probably benign |
Het |
| Sgo2a |
T |
C |
1: 58,054,787 (GRCm39) |
S324P |
probably benign |
Het |
| Slf1 |
G |
T |
13: 77,249,070 (GRCm39) |
Q373K |
probably benign |
Het |
| Son |
T |
A |
16: 91,457,054 (GRCm39) |
|
probably benign |
Het |
| Vipr1 |
G |
A |
9: 121,490,049 (GRCm39) |
D141N |
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 |
|
IGL03399:Tril
|
APN |
6 |
53,797,042 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGACAGCCAGCAAGACCAAGG -3'
(R):5'- ACCGCAGCGCATTAAGGTTGAG -3'
Sequencing Primer
(F):5'- TCCACGCATACTAGGTAGGG -3'
(R):5'- TCCTTGGACCTGCACGAG -3'
|
| Posted On |
2014-06-13 |
Incidental Mutation