Incidental Mutation 'R9740:Tril'
| ID |
731790 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tril
|
| Ensembl Gene |
ENSMUSG00000043496 |
| Gene Name |
TLR4 interactor with leucine-rich repeats |
| Synonyms |
1200009O22Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.186)
|
| Stock # |
R9740 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
53792453-53797810 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 53795104 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 706
(L706P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116056
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000127748]
|
| AlphaFold |
Q9DBY4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000127748
AA Change: L706P
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000116056
Gene: ENSMUSG00000043496
AA Change: L706P
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.5%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aebp1 |
T |
G |
11: 5,821,721 (GRCm39) |
Y1087D |
probably benign |
Het |
| Bdh1 |
A |
G |
16: 31,256,853 (GRCm39) |
M37V |
possibly damaging |
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| Cemip2 |
A |
T |
19: 21,822,105 (GRCm39) |
M1167L |
probably benign |
Het |
| Clec1b |
C |
T |
6: 129,380,549 (GRCm39) |
S155L |
probably benign |
Het |
| Crym |
A |
T |
7: 119,794,661 (GRCm39) |
V186D |
probably benign |
Het |
| D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
| Det1 |
A |
T |
7: 78,494,001 (GRCm39) |
M1K |
probably null |
Het |
| Fam110b |
A |
G |
4: 5,799,070 (GRCm39) |
K163E |
probably benign |
Het |
| Fam234a |
A |
T |
17: 26,432,789 (GRCm39) |
V482E |
probably damaging |
Het |
| Grin2b |
A |
G |
6: 135,899,868 (GRCm39) |
|
probably null |
Het |
| Herc1 |
A |
G |
9: 66,355,796 (GRCm39) |
E2349G |
probably damaging |
Het |
| Kdsr |
A |
G |
1: 106,667,126 (GRCm39) |
Y210H |
possibly damaging |
Het |
| Lcn6 |
A |
T |
2: 25,571,191 (GRCm39) |
T110S |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,266,177 (GRCm39) |
H6807R |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,366,853 (GRCm39) |
Y2636C |
probably damaging |
Het |
| Myh2 |
T |
G |
11: 67,080,052 (GRCm39) |
I1115S |
probably damaging |
Het |
| Npepl1 |
C |
A |
2: 173,963,283 (GRCm39) |
N438K |
probably damaging |
Het |
| Nrros |
G |
A |
16: 31,963,667 (GRCm39) |
H117Y |
possibly damaging |
Het |
| Or12e13 |
T |
C |
2: 87,663,895 (GRCm39) |
S171P |
probably damaging |
Het |
| Pitpnm3 |
T |
C |
11: 71,947,102 (GRCm39) |
T782A |
probably benign |
Het |
| Pla2g4d |
T |
G |
2: 120,107,952 (GRCm39) |
Q319P |
probably damaging |
Het |
| Ptcd1 |
A |
T |
5: 145,096,294 (GRCm39) |
D266E |
probably benign |
Het |
| Slitrk6 |
A |
C |
14: 110,987,430 (GRCm39) |
L759W |
probably damaging |
Het |
| Slitrk6 |
T |
G |
14: 110,987,444 (GRCm39) |
L754F |
probably benign |
Het |
| Sox5 |
A |
T |
6: 144,100,947 (GRCm39) |
M14K |
probably damaging |
Het |
| Ssmem1 |
T |
A |
6: 30,512,454 (GRCm39) |
D32E |
possibly damaging |
Het |
| St18 |
A |
T |
1: 6,873,287 (GRCm39) |
R341* |
probably null |
Het |
| Stag1 |
T |
C |
9: 100,587,288 (GRCm39) |
S4P |
probably damaging |
Het |
| Suz12 |
G |
T |
11: 79,889,920 (GRCm39) |
E144* |
probably null |
Het |
| Tex52 |
A |
G |
6: 128,356,673 (GRCm39) |
N122S |
possibly damaging |
Het |
| Trim65 |
T |
C |
11: 116,021,434 (GRCm39) |
D133G |
probably benign |
Het |
| Ttc6 |
A |
T |
12: 57,736,496 (GRCm39) |
I1166F |
probably damaging |
Het |
| Zfp709 |
C |
T |
8: 72,643,134 (GRCm39) |
R188C |
probably damaging |
Het |
| Zfp974 |
A |
G |
7: 27,610,025 (GRCm39) |
C567R |
probably damaging |
Het |
| Zmiz1 |
A |
G |
14: 25,657,250 (GRCm39) |
D842G |
possibly damaging |
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 |
|
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 |
|
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'- GACTGGAAGCCTGAGAAGTC -3'
(R):5'- TGCAACCTGACAGTAGAGGC -3'
Sequencing Primer
(F):5'- TGAGAAGTCCGCGGACACAC -3'
(R):5'- TTCGACCGCTTTGGCCAG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation