Incidental Mutation 'R1602:Treml1'
ID |
176229 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Treml1
|
Ensembl Gene |
ENSMUSG00000023993 |
Gene Name |
triggering receptor expressed on myeloid cells-like 1 |
Synonyms |
TLT-1, 5430401J17Rik |
MMRRC Submission |
039639-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1602 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
48666944-48674204 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 48671917 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 137
(E137G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153104
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024792]
[ENSMUST00000223956]
[ENSMUST00000224001]
[ENSMUST00000225849]
|
AlphaFold |
Q8K558 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000024792
AA Change: E137G
PolyPhen 2
Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000024792 Gene: ENSMUSG00000023993 AA Change: E137G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
IG
|
24 |
124 |
2.83e-3 |
SMART |
transmembrane domain
|
179 |
201 |
N/A |
INTRINSIC |
low complexity region
|
260 |
280 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000223956
AA Change: R61G
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223968
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224001
AA Change: E137G
PolyPhen 2
Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000225849
AA Change: E137G
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
Meta Mutation Damage Score |
0.1154 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.4%
- 20x: 89.4%
|
Validation Efficiency |
91% (49/54) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the triggering receptor expressed on myeloid cells-like (TREM) family. The encoded protein is a type 1 single Ig domain orphan receptor localized to the alpha-granule membranes of platelets. The encoded protein is involved in platelet aggregation, inflammation, and cellular activation and has been linked to Gray platelet syndrome. Alternative splicing results in multiple transcript variants [provided by RefSeq, Nov 2012] PHENOTYPE: Mice homozygous for a knock-out allele show a reduced platelet count, defective platelet aggregation, prolonged bleeding times, enhanced inflammatory hemorrhage, and increased susceptibility to death from endotoxin (LPS) challenge. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd12 |
A |
T |
17: 66,290,683 (GRCm39) |
Y1583* |
probably null |
Het |
Ankrd34c |
T |
C |
9: 89,611,058 (GRCm39) |
T428A |
possibly damaging |
Het |
Arfgef1 |
G |
C |
1: 10,275,115 (GRCm39) |
I312M |
probably benign |
Het |
Atr |
T |
C |
9: 95,833,610 (GRCm39) |
L2620P |
probably damaging |
Het |
Ccdc110 |
A |
G |
8: 46,391,955 (GRCm39) |
Y54C |
probably benign |
Het |
Cecr2 |
T |
C |
6: 120,732,548 (GRCm39) |
V480A |
possibly damaging |
Het |
Chfr |
A |
G |
5: 110,299,531 (GRCm39) |
D308G |
probably benign |
Het |
Cit |
T |
A |
5: 116,135,789 (GRCm39) |
I1919N |
probably damaging |
Het |
Ctsc |
T |
A |
7: 87,927,512 (GRCm39) |
D34E |
possibly damaging |
Het |
Diaph3 |
T |
A |
14: 87,328,594 (GRCm39) |
|
probably benign |
Het |
Dnah6 |
T |
A |
6: 73,044,452 (GRCm39) |
I3220F |
probably damaging |
Het |
Eif1ad16 |
C |
A |
12: 87,985,134 (GRCm39) |
E136D |
probably benign |
Het |
Eif4a3l1 |
G |
A |
6: 136,305,778 (GRCm39) |
A80T |
probably damaging |
Het |
Elmod3 |
A |
G |
6: 72,546,242 (GRCm39) |
|
probably null |
Het |
Fgd5 |
T |
C |
6: 92,043,165 (GRCm39) |
V1215A |
possibly damaging |
Het |
Filip1 |
T |
C |
9: 79,727,873 (GRCm39) |
M249V |
probably damaging |
Het |
Fmn1 |
C |
T |
2: 113,355,968 (GRCm39) |
P803L |
unknown |
Het |
Gcfc2 |
A |
G |
6: 81,921,401 (GRCm39) |
K469R |
probably damaging |
Het |
Itgad |
A |
G |
7: 127,790,111 (GRCm39) |
T637A |
probably damaging |
Het |
Kank2 |
T |
C |
9: 21,681,133 (GRCm39) |
S799G |
probably damaging |
Het |
Kcnc4 |
A |
T |
3: 107,355,520 (GRCm39) |
D309E |
possibly damaging |
Het |
Lamc2 |
G |
A |
1: 153,002,774 (GRCm39) |
T1069M |
probably benign |
Het |
Lepr |
T |
A |
4: 101,602,842 (GRCm39) |
M210K |
possibly damaging |
Het |
Lig3 |
T |
C |
11: 82,683,020 (GRCm39) |
|
probably null |
Het |
Oat |
G |
T |
7: 132,171,736 (GRCm39) |
T33K |
probably benign |
Het |
Or2ad1 |
T |
C |
13: 21,326,820 (GRCm39) |
M136V |
probably damaging |
Het |
Or4b1d |
A |
G |
2: 89,969,399 (GRCm39) |
F28S |
probably damaging |
Het |
Or7c70 |
T |
A |
10: 78,682,802 (GRCm39) |
M316L |
probably benign |
Het |
Pcnx3 |
G |
T |
19: 5,722,543 (GRCm39) |
A1383E |
probably damaging |
Het |
Pctp |
T |
C |
11: 89,879,561 (GRCm39) |
Y100C |
probably damaging |
Het |
Pex6 |
G |
T |
17: 47,023,063 (GRCm39) |
R213L |
probably benign |
Het |
Phlpp2 |
T |
C |
8: 110,660,655 (GRCm39) |
L770S |
possibly damaging |
Het |
Pkn2 |
A |
T |
3: 142,559,299 (GRCm39) |
D75E |
possibly damaging |
Het |
Pla2g12b |
T |
C |
10: 59,257,375 (GRCm39) |
|
probably null |
Het |
Plch2 |
C |
T |
4: 155,068,907 (GRCm39) |
V1135I |
probably damaging |
Het |
Pskh1 |
T |
A |
8: 106,639,453 (GRCm39) |
S44R |
probably benign |
Het |
Ptpra |
G |
T |
2: 30,327,602 (GRCm39) |
A119S |
probably benign |
Het |
Shld2 |
A |
G |
14: 33,989,607 (GRCm39) |
I433T |
probably damaging |
Het |
Slfn3 |
A |
G |
11: 83,103,541 (GRCm39) |
I137M |
probably damaging |
Het |
St6galnac1 |
A |
T |
11: 116,660,113 (GRCm39) |
S67T |
probably benign |
Het |
Timd5 |
T |
C |
11: 46,426,415 (GRCm39) |
I174T |
probably benign |
Het |
Ubr2 |
A |
C |
17: 47,251,987 (GRCm39) |
C1518G |
probably benign |
Het |
Vmn2r55 |
A |
T |
7: 12,386,571 (GRCm39) |
C470S |
probably damaging |
Het |
|
Other mutations in Treml1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01295:Treml1
|
APN |
17 |
48,672,627 (GRCm39) |
splice site |
probably benign |
|
IGL01868:Treml1
|
APN |
17 |
48,673,035 (GRCm39) |
missense |
probably benign |
0.41 |
IGL02543:Treml1
|
APN |
17 |
48,667,459 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL03136:Treml1
|
APN |
17 |
48,671,879 (GRCm39) |
splice site |
probably benign |
|
IGL03242:Treml1
|
APN |
17 |
48,673,016 (GRCm39) |
splice site |
probably benign |
|
R0047:Treml1
|
UTSW |
17 |
48,672,008 (GRCm39) |
nonsense |
probably null |
|
R0047:Treml1
|
UTSW |
17 |
48,672,008 (GRCm39) |
nonsense |
probably null |
|
R0226:Treml1
|
UTSW |
17 |
48,667,486 (GRCm39) |
missense |
probably damaging |
0.99 |
R1385:Treml1
|
UTSW |
17 |
48,667,226 (GRCm39) |
missense |
probably damaging |
1.00 |
R4379:Treml1
|
UTSW |
17 |
48,667,424 (GRCm39) |
missense |
probably damaging |
1.00 |
R4865:Treml1
|
UTSW |
17 |
48,673,885 (GRCm39) |
missense |
probably benign |
0.00 |
R5837:Treml1
|
UTSW |
17 |
48,667,180 (GRCm39) |
missense |
possibly damaging |
0.74 |
R7102:Treml1
|
UTSW |
17 |
48,673,700 (GRCm39) |
missense |
probably damaging |
0.98 |
R7107:Treml1
|
UTSW |
17 |
48,667,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R7442:Treml1
|
UTSW |
17 |
48,673,719 (GRCm39) |
missense |
probably damaging |
1.00 |
R7825:Treml1
|
UTSW |
17 |
48,673,784 (GRCm39) |
missense |
probably damaging |
1.00 |
R8843:Treml1
|
UTSW |
17 |
48,673,852 (GRCm39) |
missense |
probably damaging |
1.00 |
R8997:Treml1
|
UTSW |
17 |
48,667,466 (GRCm39) |
missense |
probably damaging |
1.00 |
R9229:Treml1
|
UTSW |
17 |
48,673,774 (GRCm39) |
missense |
probably benign |
|
R9510:Treml1
|
UTSW |
17 |
48,673,771 (GRCm39) |
missense |
probably damaging |
0.96 |
R9619:Treml1
|
UTSW |
17 |
48,672,006 (GRCm39) |
missense |
probably benign |
0.12 |
RF058:Treml1
|
UTSW |
17 |
48,666,975 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGGAGACATACCAGTGTGTGGGATG -3'
(R):5'- TGCTGATGGGAAGGTCACTAGCAG -3'
Sequencing Primer
(F):5'- GGCTATGTTTACAACCAGACAG -3'
(R):5'- ccagagcaaaagcagcaag -3'
|
Posted On |
2014-04-24 |