Incidental Mutation 'IGL01963:Trem3'
| ID |
182474 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trem3
|
| Ensembl Gene |
ENSMUSG00000041754 |
| Gene Name |
triggering receptor expressed on myeloid cells 3 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01963
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
48554805-48565869 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 48554880 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 2
(S2P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044478
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048065]
[ENSMUST00000048782]
[ENSMUST00000113251]
|
| AlphaFold |
Q9JKE1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048065
AA Change: S2P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000044478
Gene: ENSMUSG00000041754
AA Change: S2P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
IG
|
23 |
139 |
1.18e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048782
|
| SMART Domains |
Protein: ENSMUSP00000038636
Gene: ENSMUSG00000042265
| 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: The protein encoded by this gene is part of the immunoglobulin and lectin-like superfamily and is thought to function as part of the innate immune system. This gene forms part of a cluster of genes on mouse chromosome 17 thought to be involved in innate immunity. This protein has been reported to associate with the adaptor protein Dap-12 to form a receptor signaling complex that activates myeloid cells. [provided by RefSeq, Jan 2013]
PHENOTYPE: 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610042L04Rik |
G |
A |
14: 4,350,856 (GRCm38) |
G130D |
probably damaging |
Het |
| Abca8b |
T |
A |
11: 109,862,589 (GRCm39) |
D392V |
probably damaging |
Het |
| Cep43 |
A |
T |
17: 8,411,109 (GRCm39) |
D354V |
probably damaging |
Het |
| Clptm1l |
T |
A |
13: 73,765,688 (GRCm39) |
|
probably benign |
Het |
| Creb3l1 |
G |
A |
2: 91,823,678 (GRCm39) |
T178I |
probably benign |
Het |
| Ctsd |
A |
G |
7: 141,930,336 (GRCm39) |
|
probably null |
Het |
| Dcstamp |
A |
T |
15: 39,623,755 (GRCm39) |
I401F |
possibly damaging |
Het |
| Dnah5 |
A |
G |
15: 28,370,682 (GRCm39) |
D2874G |
probably benign |
Het |
| Fcsk |
A |
G |
8: 111,620,034 (GRCm39) |
F281S |
probably damaging |
Het |
| Fli1 |
T |
A |
9: 32,335,503 (GRCm39) |
K310* |
probably null |
Het |
| Fndc4 |
C |
T |
5: 31,452,556 (GRCm39) |
|
probably null |
Het |
| Gc |
G |
A |
5: 89,569,981 (GRCm39) |
|
probably benign |
Het |
| Krtap26-1 |
A |
G |
16: 88,444,556 (GRCm39) |
C22R |
probably damaging |
Het |
| Obscn |
C |
T |
11: 58,911,367 (GRCm39) |
G6422S |
probably benign |
Het |
| Or10d5 |
C |
A |
9: 39,861,536 (GRCm39) |
C177F |
probably damaging |
Het |
| Or10j2 |
T |
A |
1: 173,097,919 (GRCm39) |
M59K |
probably damaging |
Het |
| Or5b21 |
T |
A |
19: 12,839,746 (GRCm39) |
F202L |
probably benign |
Het |
| Pgr |
C |
T |
9: 8,922,669 (GRCm39) |
P613L |
probably damaging |
Het |
| Pnpla8 |
C |
A |
12: 44,342,816 (GRCm39) |
A524E |
possibly damaging |
Het |
| Psma2 |
A |
T |
13: 14,793,948 (GRCm39) |
I105F |
probably damaging |
Het |
| Ptprg |
A |
G |
14: 12,220,661 (GRCm38) |
R458G |
probably damaging |
Het |
| Rbm44 |
A |
G |
1: 91,090,830 (GRCm39) |
I755V |
probably benign |
Het |
| Rev3l |
A |
G |
10: 39,698,733 (GRCm39) |
K1077E |
possibly damaging |
Het |
| Rps20 |
A |
C |
4: 3,834,494 (GRCm39) |
|
probably benign |
Het |
| Sel1l3 |
A |
C |
5: 53,357,680 (GRCm39) |
V104G |
probably damaging |
Het |
| Sirpb1c |
T |
C |
3: 15,892,937 (GRCm39) |
N89S |
probably benign |
Het |
| Slc25a16 |
G |
A |
10: 62,766,220 (GRCm39) |
|
probably null |
Het |
| Sulf1 |
C |
T |
1: 12,888,731 (GRCm39) |
R339C |
probably damaging |
Het |
| Tedc2 |
C |
T |
17: 24,436,926 (GRCm39) |
A270T |
probably benign |
Het |
| Vps37a |
G |
T |
8: 40,993,771 (GRCm39) |
Q255H |
probably damaging |
Het |
| Zfp352 |
C |
T |
4: 90,112,391 (GRCm39) |
A177V |
possibly damaging |
Het |
|
| Other mutations in Trem3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01124:Trem3
|
APN |
17 |
48,556,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01414:Trem3
|
APN |
17 |
48,556,843 (GRCm39) |
missense |
probably benign |
|
|
IGL01951:Trem3
|
APN |
17 |
48,556,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02477:Trem3
|
APN |
17 |
48,556,864 (GRCm39) |
missense |
probably benign |
|
|
R2850:Trem3
|
UTSW |
17 |
48,556,669 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3687:Trem3
|
UTSW |
17 |
48,564,955 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4360:Trem3
|
UTSW |
17 |
48,556,801 (GRCm39) |
missense |
probably benign |
0.43 |
|
R4581:Trem3
|
UTSW |
17 |
48,556,639 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5116:Trem3
|
UTSW |
17 |
48,556,580 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5137:Trem3
|
UTSW |
17 |
48,556,756 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5894:Trem3
|
UTSW |
17 |
48,565,483 (GRCm39) |
missense |
probably benign |
|
|
R7074:Trem3
|
UTSW |
17 |
48,556,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7438:Trem3
|
UTSW |
17 |
48,565,498 (GRCm39) |
makesense |
probably null |
|
|
R7472:Trem3
|
UTSW |
17 |
48,556,873 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7491:Trem3
|
UTSW |
17 |
48,564,969 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8829:Trem3
|
UTSW |
17 |
48,556,865 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8832:Trem3
|
UTSW |
17 |
48,556,865 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Posted On |
2014-05-07 |
Incidental Mutation