Incidental Mutation 'IGL03136:Treml1'
ID 410552
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 # IGL03136
Quality Score
Status
Chromosome 17
Chromosomal Location 48666944-48674204 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to G at 48671879 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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730522E02Rik A G 11: 25,719,122 (GRCm39) L7S unknown Het
Abr C T 11: 76,316,121 (GRCm39) W571* probably null Het
Adam18 A T 8: 25,131,852 (GRCm39) C420S probably damaging Het
Akap5 G T 12: 76,376,649 (GRCm39) E694* probably null Het
Bbs1 T C 19: 4,941,019 (GRCm39) K565R probably benign Het
Brix1 A G 15: 10,478,852 (GRCm39) F189S probably damaging Het
Cnot4 C A 6: 35,028,176 (GRCm39) R480L probably damaging Het
Ctu2 A G 8: 123,205,940 (GRCm39) probably benign Het
Dhcr7 A G 7: 143,401,103 (GRCm39) H422R probably damaging Het
Dock1 A G 7: 134,770,118 (GRCm39) M1793V probably benign Het
Dock7 A G 4: 98,892,028 (GRCm39) F853L probably damaging Het
Fkbp15 G A 4: 62,258,466 (GRCm39) probably benign Het
Ftsj3 C T 11: 106,144,639 (GRCm39) D117N probably damaging Het
Gphn A G 12: 78,528,107 (GRCm39) I142V possibly damaging Het
Hsd3b1 G A 3: 98,760,301 (GRCm39) A230V probably damaging Het
Hydin G A 8: 111,145,156 (GRCm39) A836T probably benign Het
Ift52 G T 2: 162,867,254 (GRCm39) E71* probably null Het
Ms4a14 T C 19: 11,281,775 (GRCm39) D261G possibly damaging Het
Nid1 G A 13: 13,675,084 (GRCm39) V935I probably benign Het
Nrap T C 19: 56,330,687 (GRCm39) K1008E possibly damaging Het
Nup210 A C 6: 91,005,843 (GRCm39) V1340G probably benign Het
Or2aj4 A T 16: 19,385,103 (GRCm39) F177I probably damaging Het
Or5b94 T A 19: 12,652,331 (GRCm39) I254N probably damaging Het
Or8d6 T C 9: 39,854,332 (GRCm39) Y259H probably damaging Het
Pcdhb15 C A 18: 37,608,067 (GRCm39) T433N probably damaging Het
Pdcd6ip T A 9: 113,520,567 (GRCm39) N139I probably damaging Het
Pgbd1 A G 13: 21,617,609 (GRCm39) V80A possibly damaging Het
Pigw A G 11: 84,768,603 (GRCm39) I242T probably benign Het
Prtg T G 9: 72,764,267 (GRCm39) V580G possibly damaging Het
Ptpn13 T A 5: 103,691,329 (GRCm39) N1065K possibly damaging Het
Qrich1 G A 9: 108,422,117 (GRCm39) R577H probably damaging Het
Ryr3 G A 2: 112,506,319 (GRCm39) probably benign Het
Selenoi T C 5: 30,462,725 (GRCm39) Y197H probably damaging Het
Slc47a2 A G 11: 61,201,591 (GRCm39) C343R probably benign Het
Smurf2 A T 11: 106,721,874 (GRCm39) D527E probably benign Het
Spam1 C T 6: 24,797,010 (GRCm39) probably benign Het
Stkld1 T C 2: 26,841,435 (GRCm39) V460A probably benign Het
Tgoln1 G A 6: 72,591,096 (GRCm39) R339W probably damaging Het
Tprg1 T C 16: 25,231,512 (GRCm39) probably benign Het
Ttc39b A T 4: 83,155,517 (GRCm39) V497E probably damaging Het
Vmn1r223 A G 13: 23,433,933 (GRCm39) T176A possibly damaging Het
Vmn2r75 A T 7: 85,797,911 (GRCm39) I634N possibly damaging Het
Vps13c A G 9: 67,857,592 (GRCm39) E2608G probably damaging Het
Zfp575 A G 7: 24,285,381 (GRCm39) C87R probably damaging Het
Zfp790 T A 7: 29,529,320 (GRCm39) Y668* probably null 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
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
RF058:Treml1 UTSW 17 48,666,975 (GRCm39) nonsense probably null
Posted On 2016-08-02