Incidental Mutation 'IGL03242:Treml1'
ID 414906
Institutional Source Australian Phenomics Network (link to record)
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) question?
Stock # IGL03242
Quality Score
Status
Chromosome 17
Chromosomal Location 48666944-48674204 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 48673016 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 benign
Transcript: ENSMUST00000024792
SMART Domains Protein: ENSMUSP00000024792
Gene: ENSMUSG00000023993

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000223956
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223968
Predicted Effect probably benign
Transcript: ENSMUST00000224001
Predicted Effect probably benign
Transcript: ENSMUST00000225849
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 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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T C 16: 4,667,189 (GRCm39) W221R unknown Het
Ank2 A G 3: 126,722,454 (GRCm39) F1000L possibly damaging Het
Aoc1l2 T C 6: 48,909,479 (GRCm39) F575L possibly damaging Het
Bahcc1 T C 11: 120,159,126 (GRCm39) probably benign Het
BC024139 T C 15: 76,004,520 (GRCm39) M679V probably benign Het
Carmil2 A G 8: 106,417,952 (GRCm39) probably benign Het
Catsperg2 A G 7: 29,424,904 (GRCm39) probably benign Het
Chrnb4 A T 9: 54,942,812 (GRCm39) I154K probably damaging Het
Clec2e A C 6: 129,071,989 (GRCm39) L130W probably damaging Het
Coro2b G T 9: 62,336,243 (GRCm39) Y281* probably null Het
Dlk2 A G 17: 46,613,903 (GRCm39) Y386C probably benign Het
Dnah7a A T 1: 53,659,882 (GRCm39) F709I probably benign Het
Efcab3 A C 11: 104,997,230 (GRCm39) E140A probably damaging Het
Exoc1 T C 5: 76,706,854 (GRCm39) L467P probably damaging Het
Fkbp2 A G 19: 6,955,980 (GRCm39) V75A probably benign Het
Glud1 T C 14: 34,056,237 (GRCm39) F304L probably benign Het
Gsr T A 8: 34,175,627 (GRCm39) V291E probably benign Het
Itprid2 C T 2: 79,473,815 (GRCm39) R189* probably null Het
Kap A G 6: 133,828,763 (GRCm39) probably benign Het
Kmt2a G T 9: 44,759,689 (GRCm39) T720N probably damaging Het
Lrrtm4 T C 6: 79,999,071 (GRCm39) I161T probably benign Het
Lyst T A 13: 13,831,466 (GRCm39) L1630* probably null Het
Med13l A G 5: 118,885,510 (GRCm39) S1488G probably benign Het
Mlxip A G 5: 123,578,124 (GRCm39) K147E probably damaging Het
Nalcn T C 14: 123,558,899 (GRCm39) E810G possibly damaging Het
Or2d4 A G 7: 106,544,125 (GRCm39) F28L possibly damaging Het
Or56a5 G A 7: 104,793,473 (GRCm39) S15F probably benign Het
Or5p54 T C 7: 107,554,688 (GRCm39) V280A possibly damaging Het
Pcare A G 17: 72,057,266 (GRCm39) S804P probably benign Het
Piezo2 T C 18: 63,144,609 (GRCm39) probably benign Het
Scgb2b7 A T 7: 31,404,506 (GRCm39) C65S probably damaging Het
Serpina3j G A 12: 104,285,960 (GRCm39) A372T possibly damaging Het
Slc28a3 G A 13: 58,722,063 (GRCm39) Q274* probably null Het
Stk36 T C 1: 74,662,511 (GRCm39) F543S possibly damaging Het
Tfrc T C 16: 32,448,930 (GRCm39) S690P probably damaging Het
Tg C A 15: 66,555,647 (GRCm39) Q780K probably damaging Het
Top1 T A 2: 160,557,653 (GRCm39) H578Q probably damaging Het
Treh A G 9: 44,596,634 (GRCm39) T463A possibly damaging Het
Trpm2 A G 10: 77,753,568 (GRCm39) V1312A probably benign Het
Ttc41 T A 10: 86,612,683 (GRCm39) *1319K probably null Het
Tulp2 A G 7: 45,171,282 (GRCm39) I354M probably damaging Het
Ugt2b35 T C 5: 87,155,254 (GRCm39) L363P probably damaging Het
Usp13 A T 3: 32,956,218 (GRCm39) M496L probably benign Het
Virma T C 4: 11,527,669 (GRCm39) S1187P possibly damaging Het
Wdr76 T A 2: 121,372,951 (GRCm39) C593S probably damaging Het
Zfp446 G A 7: 12,713,252 (GRCm39) A97T probably damaging Het
Other mutations in Treml1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
RF058:Treml1 UTSW 17 48,666,975 (GRCm39) nonsense probably null
Posted On 2016-08-02