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) question?
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

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 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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
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