Incidental Mutation 'IGL01756:Trem1'
| ID |
153449 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trem1
|
| Ensembl Gene |
ENSMUSG00000042265 |
| Gene Name |
triggering receptor expressed on myeloid cells 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01756
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
48539796-48553952 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 48544141 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 55
(W55*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038636
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048782]
[ENSMUST00000113251]
|
| AlphaFold |
Q9JKE2 |
| PDB Structure |
Crystal Structure of Mouse Triggering Receptor Expressed on Myeloid Cells 1 (TREM-1) at 1.76 [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000048782
AA Change: W55*
|
| SMART Domains |
Protein: ENSMUSP00000038636
Gene: ENSMUSG00000042265
AA Change: W55*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
IG
|
26 |
134 |
1.25e-4 |
SMART |
|
low complexity region
|
159 |
170 |
N/A |
INTRINSIC |
|
transmembrane domain
|
202 |
224 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113251
|
| SMART Domains |
Protein: ENSMUSP00000108877
Gene: ENSMUSG00000042265
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
40 |
51 |
N/A |
INTRINSIC |
|
transmembrane domain
|
83 |
105 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a receptor belonging to the Ig superfamily that is expressed on myeloid cells. This protein amplifies neutrophil and monocyte-mediated inflammatory responses triggered by bacterial and fungal infections by stimulating release of pro-inflammatory chemokines and cytokines, as well as increased surface expression of cell activation markers. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Jun 2011]
PHENOTYPE: Mice homozygous for a reporter allele exhibit decreased susceptibility to DEN induced tumors and liver damage. Mice homozygous for a knock-out allele of Trem1 and Trem3 exhibit increased susceptibility to P. aeruginosa infection with reduced neutrophil transepithelial migration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atrnl1 |
A |
G |
19: 57,641,380 (GRCm39) |
N343D |
probably benign |
Het |
| Birc6 |
T |
C |
17: 74,947,203 (GRCm39) |
V2974A |
probably benign |
Het |
| Cngb3 |
A |
C |
4: 19,367,850 (GRCm39) |
D253A |
probably damaging |
Het |
| Cog4 |
A |
T |
8: 111,580,391 (GRCm39) |
K154* |
probably null |
Het |
| Col6a3 |
T |
A |
1: 90,706,884 (GRCm39) |
E2076D |
unknown |
Het |
| Cox7a2 |
T |
G |
9: 79,665,837 (GRCm39) |
T15P |
probably benign |
Het |
| Cyp4f39 |
T |
A |
17: 32,702,415 (GRCm39) |
L304* |
probably null |
Het |
| Gucy2e |
A |
T |
11: 69,123,678 (GRCm39) |
L407Q |
probably damaging |
Het |
| Hectd4 |
T |
C |
5: 121,482,887 (GRCm39) |
I3146T |
probably benign |
Het |
| Hipk4 |
T |
A |
7: 27,227,968 (GRCm39) |
L238* |
probably null |
Het |
| Igf2r |
C |
T |
17: 12,902,709 (GRCm39) |
R2447Q |
probably benign |
Het |
| Itgb4 |
G |
A |
11: 115,879,752 (GRCm39) |
V635I |
probably damaging |
Het |
| Klkb1 |
T |
A |
8: 45,725,361 (GRCm39) |
K526M |
probably damaging |
Het |
| Ninl |
T |
C |
2: 150,821,436 (GRCm39) |
E66G |
probably damaging |
Het |
| Pde8b |
A |
G |
13: 95,182,895 (GRCm39) |
S288P |
probably damaging |
Het |
| Rigi |
A |
T |
4: 40,209,934 (GRCm39) |
N666K |
probably damaging |
Het |
| Sar1a |
T |
A |
10: 61,522,235 (GRCm39) |
M109K |
probably benign |
Het |
| Snx18 |
T |
A |
13: 113,754,052 (GRCm39) |
T294S |
probably benign |
Het |
| Srek1 |
C |
T |
13: 103,897,090 (GRCm39) |
D84N |
probably damaging |
Het |
| Tsnaxip1 |
A |
T |
8: 106,569,420 (GRCm39) |
|
probably benign |
Het |
| Vmn2r43 |
A |
G |
7: 8,258,583 (GRCm39) |
L210S |
probably benign |
Het |
|
| Other mutations in Trem1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01120:Trem1
|
APN |
17 |
48,544,277 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL01729:Trem1
|
APN |
17 |
48,551,603 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02348:Trem1
|
APN |
17 |
48,539,824 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
IGL02720:Trem1
|
APN |
17 |
48,539,869 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0589:Trem1
|
UTSW |
17 |
48,544,245 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1807:Trem1
|
UTSW |
17 |
48,548,663 (GRCm39) |
nonsense |
probably null |
|
|
R1878:Trem1
|
UTSW |
17 |
48,548,516 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4648:Trem1
|
UTSW |
17 |
48,551,590 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5121:Trem1
|
UTSW |
17 |
48,539,864 (GRCm39) |
missense |
probably null |
0.00 |
|
R5387:Trem1
|
UTSW |
17 |
48,548,541 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5623:Trem1
|
UTSW |
17 |
48,544,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5953:Trem1
|
UTSW |
17 |
48,544,220 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6538:Trem1
|
UTSW |
17 |
48,544,118 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8898:Trem1
|
UTSW |
17 |
48,544,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9099:Trem1
|
UTSW |
17 |
48,544,271 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
| Posted On |
2014-02-04 |
Incidental Mutation