Incidental Mutation 'R2367:Tril'
| ID |
246370 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tril
|
| Ensembl Gene |
ENSMUSG00000043496 |
| Gene Name |
TLR4 interactor with leucine-rich repeats |
| Synonyms |
1200009O22Rik |
| MMRRC Submission |
040348-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.158)
|
| Stock # |
R2367 (G1)
|
| Quality Score |
181 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
53792453-53797810 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 53796151 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 357
(D357V)
|
| 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 damaging
Transcript: ENSMUST00000127748
AA Change: D357V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000116056
Gene: ENSMUSG00000043496
AA Change: D357V
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adipoq |
T |
C |
16: 22,974,069 (GRCm39) |
V32A |
probably benign |
Het |
| Ceacam3 |
T |
C |
7: 16,885,813 (GRCm39) |
|
probably null |
Het |
| Cep250 |
G |
A |
2: 155,834,552 (GRCm39) |
R2159K |
probably damaging |
Het |
| Cfap46 |
C |
A |
7: 139,233,414 (GRCm39) |
V296F |
probably damaging |
Het |
| Ctdspl2 |
T |
C |
2: 121,817,499 (GRCm39) |
V182A |
probably benign |
Het |
| Cyp2c69 |
T |
C |
19: 39,866,038 (GRCm39) |
N185S |
probably benign |
Het |
| Daxx |
C |
T |
17: 34,130,821 (GRCm39) |
R279W |
probably benign |
Het |
| Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Galnt13 |
A |
T |
2: 55,002,956 (GRCm39) |
M552L |
probably benign |
Het |
| Gstt2 |
C |
T |
10: 75,668,524 (GRCm39) |
G108S |
probably benign |
Het |
| Heatr1 |
T |
A |
13: 12,448,605 (GRCm39) |
L422Q |
probably damaging |
Het |
| Kntc1 |
C |
T |
5: 123,919,255 (GRCm39) |
L845F |
probably damaging |
Het |
| Krtap26-1 |
C |
A |
16: 88,444,213 (GRCm39) |
R136L |
probably benign |
Het |
| Mrgprb5 |
C |
T |
7: 47,818,347 (GRCm39) |
W129* |
probably null |
Het |
| Ms4a3 |
G |
A |
19: 11,607,108 (GRCm39) |
P186S |
probably benign |
Het |
| Myo15a |
T |
A |
11: 60,408,064 (GRCm39) |
M3184K |
probably damaging |
Het |
| Olig2 |
G |
A |
16: 91,023,454 (GRCm39) |
R56Q |
possibly damaging |
Het |
| Or8u9 |
T |
C |
2: 86,001,981 (GRCm39) |
Y60C |
probably damaging |
Het |
| Pgap3 |
C |
T |
11: 98,281,985 (GRCm39) |
|
probably null |
Het |
| Phgdh |
C |
G |
3: 98,221,612 (GRCm39) |
G440A |
probably benign |
Het |
| Scn1a |
T |
C |
2: 66,158,023 (GRCm39) |
Q450R |
probably damaging |
Het |
| Sema4d |
CGGGG |
CGGGGGGG |
13: 51,857,176 (GRCm39) |
|
probably benign |
Het |
| Sik1 |
C |
T |
17: 32,065,271 (GRCm39) |
V776I |
possibly damaging |
Het |
| Slc25a39 |
T |
A |
11: 102,294,477 (GRCm39) |
T316S |
possibly damaging |
Het |
| Slc38a10 |
C |
T |
11: 120,001,087 (GRCm39) |
E578K |
probably benign |
Het |
| Slc44a5 |
T |
A |
3: 153,953,446 (GRCm39) |
I276K |
possibly damaging |
Het |
| Smarcc2 |
A |
G |
10: 128,318,036 (GRCm39) |
T610A |
possibly damaging |
Het |
| Spag9 |
G |
A |
11: 94,007,583 (GRCm39) |
S1090N |
probably damaging |
Het |
| Tpr |
T |
C |
1: 150,309,479 (GRCm39) |
V277A |
probably damaging |
Het |
| Traf3ip1 |
T |
G |
1: 91,435,242 (GRCm39) |
S314A |
possibly damaging |
Het |
| Tube1 |
T |
C |
10: 39,020,915 (GRCm39) |
L267P |
probably damaging |
Het |
| Vmn1r11 |
A |
G |
6: 57,114,416 (GRCm39) |
I27V |
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 |
|
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 |
|
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'- CCTCTTCTGACGATGTGGGTAG -3'
(R):5'- AAGGTAACCGGCTGAACCAG -3'
Sequencing Primer
(F):5'- TGAGGGATCCACGCAAGACC -3'
(R):5'- TGACACTGCTGGAGCCTCTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation