Incidental Mutation 'IGL01103:Tril'
| ID |
51317 |
| 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: 0.158)
|
| Stock # |
IGL01103
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
53792453-53797810 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 53796023 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 400
(Y400H)
|
| 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: Y400H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116056
Gene: ENSMUSG00000043496
AA Change: Y400H
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Calhm6 |
A |
T |
10: 34,002,361 (GRCm39) |
C241S |
probably benign |
Het |
| Cdh3 |
A |
G |
8: 107,281,937 (GRCm39) |
Y775C |
probably damaging |
Het |
| Clip2 |
A |
G |
5: 134,521,204 (GRCm39) |
S980P |
possibly damaging |
Het |
| Ddx51 |
C |
T |
5: 110,803,729 (GRCm39) |
A375V |
probably benign |
Het |
| Eif4e |
A |
G |
3: 138,253,412 (GRCm39) |
|
probably benign |
Het |
| Epb41l5 |
T |
C |
1: 119,495,577 (GRCm39) |
D588G |
probably benign |
Het |
| Fer1l4 |
C |
T |
2: 155,886,361 (GRCm39) |
|
probably null |
Het |
| Fli1 |
T |
C |
9: 32,335,236 (GRCm39) |
N399D |
probably benign |
Het |
| Gm20422 |
T |
C |
8: 70,195,776 (GRCm39) |
T168A |
possibly damaging |
Het |
| Kcnk12 |
C |
T |
17: 88,054,195 (GRCm39) |
G156R |
probably damaging |
Het |
| Kntc1 |
T |
A |
5: 123,902,283 (GRCm39) |
S309T |
probably damaging |
Het |
| Lcp1 |
T |
A |
14: 75,464,533 (GRCm39) |
|
probably null |
Het |
| Neo1 |
A |
G |
9: 58,788,082 (GRCm39) |
C1324R |
possibly damaging |
Het |
| Nin |
G |
A |
12: 70,103,532 (GRCm39) |
T236I |
probably damaging |
Het |
| Npy6r |
A |
G |
18: 44,408,585 (GRCm39) |
E2G |
probably benign |
Het |
| Numa1 |
T |
C |
7: 101,650,778 (GRCm39) |
V136A |
probably benign |
Het |
| Pcdhb8 |
A |
G |
18: 37,490,253 (GRCm39) |
K644E |
probably damaging |
Het |
| Polr3h |
T |
A |
15: 81,806,697 (GRCm39) |
N41Y |
probably damaging |
Het |
| Prrx1 |
T |
C |
1: 163,089,531 (GRCm39) |
T99A |
probably damaging |
Het |
| Prss1l |
T |
A |
6: 41,374,091 (GRCm39) |
V231D |
probably damaging |
Het |
| Rbm18 |
G |
A |
2: 36,024,184 (GRCm39) |
R26* |
probably null |
Het |
| Repin1 |
G |
T |
6: 48,574,887 (GRCm39) |
|
probably benign |
Het |
| Rnase1 |
T |
C |
14: 51,383,079 (GRCm39) |
N92D |
probably benign |
Het |
| Sidt1 |
A |
T |
16: 44,063,906 (GRCm39) |
C782* |
probably null |
Het |
| Slc27a6 |
T |
A |
18: 58,689,836 (GRCm39) |
S101T |
probably benign |
Het |
| Stard9 |
A |
G |
2: 120,532,328 (GRCm39) |
N2862D |
possibly damaging |
Het |
| Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
| Trim34b |
T |
C |
7: 103,979,106 (GRCm39) |
C118R |
probably damaging |
Het |
| Vwa7 |
T |
C |
17: 35,243,918 (GRCm39) |
V784A |
probably damaging |
Het |
|
| Other mutations in Tril |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-06-21 |
Incidental Mutation