Incidental Mutation 'R6538:Trem1'
ID |
520562 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trem1
|
Ensembl Gene |
ENSMUSG00000042265 |
Gene Name |
triggering receptor expressed on myeloid cells 1 |
Synonyms |
|
MMRRC Submission |
044664-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6538 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
48539796-48553952 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 48544118 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 48
(Y48H)
|
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 |
possibly damaging
Transcript: ENSMUST00000048782
AA Change: Y48H
PolyPhen 2
Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000038636 Gene: ENSMUSG00000042265 AA Change: Y48H
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930009A15Rik |
A |
G |
10: 115,406,104 (GRCm39) |
|
probably benign |
Het |
Abcd4 |
T |
A |
12: 84,658,535 (GRCm39) |
M223L |
probably benign |
Het |
Adat1 |
T |
C |
8: 112,695,094 (GRCm39) |
I482V |
probably benign |
Het |
Adrm1b |
C |
T |
3: 92,336,562 (GRCm39) |
V47M |
possibly damaging |
Het |
Arfgef2 |
A |
G |
2: 166,735,541 (GRCm39) |
|
probably null |
Het |
Atn1 |
A |
G |
6: 124,723,512 (GRCm39) |
|
probably benign |
Het |
Cyb561d2 |
C |
A |
9: 107,417,216 (GRCm39) |
M178I |
possibly damaging |
Het |
Dnah14 |
A |
T |
1: 181,412,550 (GRCm39) |
H30L |
unknown |
Het |
Dnah2 |
T |
C |
11: 69,328,023 (GRCm39) |
I3367V |
possibly damaging |
Het |
Fcmr |
A |
G |
1: 130,802,762 (GRCm39) |
Y125C |
possibly damaging |
Het |
Gm7298 |
G |
T |
6: 121,753,132 (GRCm39) |
V870L |
probably damaging |
Het |
Grin3a |
T |
C |
4: 49,770,856 (GRCm39) |
S639G |
probably damaging |
Het |
H1f6 |
A |
G |
13: 23,879,904 (GRCm39) |
E19G |
probably benign |
Het |
Ighv9-1 |
T |
A |
12: 114,057,685 (GRCm39) |
T72S |
possibly damaging |
Het |
Klra2 |
T |
A |
6: 131,219,953 (GRCm39) |
H76L |
probably damaging |
Het |
Lamp1 |
A |
G |
8: 13,221,285 (GRCm39) |
T209A |
probably benign |
Het |
Lrrc9 |
T |
A |
12: 72,547,703 (GRCm39) |
Y1294N |
probably benign |
Het |
Or2b11 |
C |
T |
11: 59,462,411 (GRCm39) |
V52I |
probably benign |
Het |
Or5t9 |
A |
T |
2: 86,659,869 (GRCm39) |
T258S |
possibly damaging |
Het |
Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
Pik3ca |
T |
C |
3: 32,493,853 (GRCm39) |
Y272H |
probably damaging |
Het |
Spindoc |
T |
C |
19: 7,360,064 (GRCm39) |
I35V |
probably benign |
Het |
St6galnac4 |
A |
C |
2: 32,487,090 (GRCm39) |
M262L |
possibly damaging |
Het |
Szt2 |
C |
T |
4: 118,247,674 (GRCm39) |
|
probably null |
Het |
Tcstv7b |
T |
C |
13: 120,702,468 (GRCm39) |
V88A |
possibly damaging |
Het |
Trim38 |
A |
T |
13: 23,969,932 (GRCm39) |
T164S |
probably damaging |
Het |
Zfp715 |
A |
T |
7: 42,948,573 (GRCm39) |
H462Q |
possibly damaging |
Het |
Zfyve16 |
C |
T |
13: 92,641,024 (GRCm39) |
G1240E |
probably damaging |
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 |
IGL01756:Trem1
|
APN |
17 |
48,544,141 (GRCm39) |
nonsense |
probably null |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACAAGTCCTTCCCAGTTGAG -3'
(R):5'- GAGCACAACAGGGTCATTCG -3'
Sequencing Primer
(F):5'- AGAGTTTGGACAGACGTCATTCCC -3'
(R):5'- CAATCCAGAGTCTGTCACTTGAAGG -3'
|
Posted On |
2018-06-06 |