Incidental Mutation 'RF058:Treml1'
| ID |
605340 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Treml1
|
| Ensembl Gene |
ENSMUSG00000023993 |
| Gene Name |
triggering receptor expressed on myeloid cells-like 1 |
| Synonyms |
TLT-1, 5430401J17Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
RF058 (G1)
|
| Quality Score |
102.467 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
48666944-48674204 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
ACCT to A
at 48666975 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153104
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024792]
[ENSMUST00000223956]
[ENSMUST00000224001]
[ENSMUST00000225849]
|
| AlphaFold |
Q8K558 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000024792
|
| SMART Domains |
Protein: ENSMUSP00000024792
Gene: ENSMUSG00000023993
| 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 |
probably null
Transcript: ENSMUST00000223956
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000224001
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000225849
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.7%
|
| Validation Efficiency |
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110021N24Rik |
GAGCGCGGCC |
G |
4: 108,637,826 (GRCm39) |
|
probably benign |
Het |
| 5430401F13Rik |
AAGGAAAAGGTGGCCAG |
AAGGAAAAGGTGGCCAGCAAAAACAGAGAGGAAAAGGTGGCCAG |
6: 131,529,850 (GRCm39) |
|
probably benign |
Het |
| 5430401F13Rik |
CAG |
CAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
6: 131,529,864 (GRCm39) |
|
probably benign |
Het |
| Alg9 |
GGC |
GGCTGC |
9: 50,686,727 (GRCm39) |
|
probably benign |
Het |
| Arid1b |
CGGGGG |
CGGGGGGGG |
17: 5,045,858 (GRCm39) |
|
probably benign |
Het |
| Chd4 |
GC |
GCTCCCTC |
6: 125,099,094 (GRCm39) |
|
probably benign |
Het |
| Chga |
CAG |
CAGAAG |
12: 102,527,675 (GRCm39) |
|
probably benign |
Het |
| Cort |
GCCCACTCGT |
G |
4: 149,209,869 (GRCm39) |
|
probably benign |
Het |
| Flywch1 |
GT |
GTGGGGAGGCTACGTGCTCACCCGCTCCTGGTAT |
17: 23,981,151 (GRCm39) |
|
probably null |
Het |
| Gab3 |
TCT |
TCTACT |
X: 74,043,608 (GRCm39) |
|
probably benign |
Het |
| Gabre |
C |
CCGGCTG |
X: 71,313,669 (GRCm39) |
|
probably benign |
Het |
| Haus4 |
CACTTAAAAAAAAAA |
CA |
14: 54,787,492 (GRCm39) |
|
probably benign |
Het |
| Il2 |
AG |
AGGGCTTGAAGTGG |
3: 37,179,966 (GRCm39) |
|
probably benign |
Het |
| Il2 |
CTTGAAGTGG |
CTTGAAGTGGGGATTGAAGTGG |
3: 37,179,970 (GRCm39) |
|
probably benign |
Het |
| Kri1 |
TCCTCCTCC |
TC |
9: 21,192,362 (GRCm39) |
|
probably null |
Het |
| Krtap28-10 |
ACAGCCACCACAGCCACAGCCACCACAGC |
ACAGCCACCACAGCCCCAGCCACCACAGCCACAGCCACCACAGC |
1: 83,019,983 (GRCm39) |
|
probably benign |
Het |
| Mbd1 |
CGTCTTCGTCTGCATCTGCATCTGCA |
C |
18: 74,406,680 (GRCm39) |
|
probably null |
Het |
| Nefh |
CCTC |
CCTCGCCTGGGGACTTGGACTC |
11: 4,891,021 (GRCm39) |
|
probably benign |
Het |
| Rtbdn |
GCAGCG |
GCAGCGACAGCG |
8: 85,682,801 (GRCm39) |
|
probably benign |
Het |
| Setd1a |
GTGGTGGT |
GTGGTGGTATTGGTGGT |
7: 127,384,490 (GRCm39) |
|
probably benign |
Het |
| Triobp |
CTCCCTGTGCCCAAC |
CTCCCTGTGCCCAACTGAACAACCCCAGGATTCCCTGTGCCCAAC |
15: 78,851,244 (GRCm39) |
|
probably benign |
Het |
| Zfp598 |
CCCACCACCACAACCACCACCACCACCACCAC |
CCCACCACCACCACCACAACCACCACCACCACCACCAC |
17: 24,899,735 (GRCm39) |
|
probably benign |
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 |
|
R1602:Treml1
|
UTSW |
17 |
48,671,917 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTCTGAACCTTGAGCCAAG -3'
(R):5'- CTAGAATGGATGACCCCACC -3'
Sequencing Primer
(F):5'- ACCTTGAGCCAAGAAATCTATGG -3'
(R):5'- ATGACTGTCAGCTGAGCCTTG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation