Incidental Mutation 'IGL01729:Trem1'
ID 105383
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trem1
Ensembl Gene ENSMUSG00000042265
Gene Name triggering receptor expressed on myeloid cells 1
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01729
Quality Score
Status
Chromosome 17
Chromosomal Location 48539796-48553952 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 48551603 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 88 (V88A)
Ref Sequence ENSEMBL: ENSMUSP00000108877 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048065] [ENSMUST00000048782] [ENSMUST00000113251]
AlphaFold Q9JKE2
Predicted Effect probably benign
Transcript: ENSMUST00000048065
SMART Domains Protein: ENSMUSP00000044478
Gene: ENSMUSG00000041754

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IG 23 139 1.18e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000048782
AA Change: V207A

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000038636
Gene: ENSMUSG00000042265
AA Change: V207A

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
IG 26 134 1.25e-4 SMART
low complexity region 159 170 N/A INTRINSIC
transmembrane domain 202 224 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000113251
AA Change: V88A

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000108877
Gene: ENSMUSG00000042265
AA Change: V88A

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 40 51 N/A INTRINSIC
transmembrane domain 83 105 N/A INTRINSIC
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 receptor belonging to the Ig superfamily that is expressed on myeloid cells. This protein amplifies neutrophil and monocyte-mediated inflammatory responses triggered by bacterial and fungal infections by stimulating release of pro-inflammatory chemokines and cytokines, as well as increased surface expression of cell activation markers. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Jun 2011]
PHENOTYPE: Mice homozygous for a reporter allele exhibit decreased susceptibility to DEN induced tumors and liver damage. Mice homozygous for a knock-out allele of Trem1 and Trem3 exhibit increased susceptibility to P. aeruginosa infection with reduced neutrophil transepithelial migration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4galt A G 15: 83,112,526 (GRCm39) F86L probably damaging Het
Acer3 A G 7: 97,866,072 (GRCm39) V217A probably benign Het
Adcy10 T C 1: 165,340,737 (GRCm39) probably null Het
Adcy8 C T 15: 64,678,511 (GRCm39) V481I probably damaging Het
Ano3 C T 2: 110,611,739 (GRCm39) probably null Het
Arhgap23 C T 11: 97,344,787 (GRCm39) T583I probably damaging Het
Atp2a1 A G 7: 126,057,106 (GRCm39) L173P probably damaging Het
Clgn T C 8: 84,124,279 (GRCm39) W74R probably damaging Het
Clstn3 T C 6: 124,426,753 (GRCm39) S523G probably benign Het
Dnah10 A C 5: 124,864,529 (GRCm39) K2245Q probably benign Het
Dsg1b G T 18: 20,538,295 (GRCm39) V634L possibly damaging Het
Dzip3 A T 16: 48,748,726 (GRCm39) V864E possibly damaging Het
Ear2 A T 14: 44,340,701 (GRCm39) R120* probably null Het
Fam171b T C 2: 83,685,881 (GRCm39) probably benign Het
Fam186b G A 15: 99,178,132 (GRCm39) S398L probably benign Het
Gabrp T C 11: 33,502,689 (GRCm39) K392E probably damaging Het
Gm10355 G A 3: 101,213,999 (GRCm39) noncoding transcript Het
Gm3424 T C 14: 17,337,188 (GRCm39) Y90C probably damaging Het
Gm8165 A G 14: 43,910,186 (GRCm39) V212A unknown Het
Grm7 G A 6: 111,223,145 (GRCm39) R395Q probably benign Het
Il1r1 T A 1: 40,333,986 (GRCm39) N185K probably damaging Het
Jam3 A G 9: 27,016,821 (GRCm39) F80L probably damaging Het
Map1s T C 8: 71,365,712 (GRCm39) Y206H probably damaging Het
Mroh7 A G 4: 106,561,402 (GRCm39) Y614H possibly damaging Het
Ntmt2 T A 1: 163,552,572 (GRCm39) D18V probably damaging Het
Pate2 T C 9: 35,581,888 (GRCm39) Y61H probably damaging Het
Prox1 T A 1: 189,893,372 (GRCm39) T358S probably benign Het
Prpf6 T A 2: 181,296,710 (GRCm39) D876E probably damaging Het
Rpf1 G A 3: 146,212,904 (GRCm39) R311C probably damaging Het
Rpusd2 T A 2: 118,865,837 (GRCm39) V178D probably damaging Het
Stx2 A G 5: 129,068,042 (GRCm39) F222L probably benign Het
Themis T A 10: 28,637,587 (GRCm39) Y230* probably null Het
Tmem132e T C 11: 82,325,942 (GRCm39) L314P possibly damaging Het
Tmtc3 T C 10: 100,283,017 (GRCm39) E846G probably benign Het
Trim21 G A 7: 102,213,100 (GRCm39) A66V probably damaging Het
Trip4 A C 9: 65,782,174 (GRCm39) V186G probably benign Het
Vps9d1 T C 8: 123,973,739 (GRCm39) E348G probably damaging Het
Xrn2 T C 2: 146,878,717 (GRCm39) probably null Het
Zfp36 A G 7: 28,077,888 (GRCm39) S7P probably damaging Het
Other mutations in Trem1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01120:Trem1 APN 17 48,544,277 (GRCm39) missense probably benign 0.14
IGL01756:Trem1 APN 17 48,544,141 (GRCm39) nonsense probably null
IGL02348:Trem1 APN 17 48,539,824 (GRCm39) start codon destroyed probably null 1.00
IGL02720:Trem1 APN 17 48,539,869 (GRCm39) missense probably benign 0.03
R0589:Trem1 UTSW 17 48,544,245 (GRCm39) missense possibly damaging 0.93
R1807:Trem1 UTSW 17 48,548,663 (GRCm39) nonsense probably null
R1878:Trem1 UTSW 17 48,548,516 (GRCm39) missense possibly damaging 0.83
R4648:Trem1 UTSW 17 48,551,590 (GRCm39) missense probably benign 0.10
R5121:Trem1 UTSW 17 48,539,864 (GRCm39) missense probably null 0.00
R5387:Trem1 UTSW 17 48,548,541 (GRCm39) missense possibly damaging 0.92
R5623:Trem1 UTSW 17 48,544,083 (GRCm39) missense probably damaging 1.00
R5953:Trem1 UTSW 17 48,544,220 (GRCm39) missense probably benign 0.01
R6538:Trem1 UTSW 17 48,544,118 (GRCm39) missense possibly damaging 0.86
R8898:Trem1 UTSW 17 48,544,374 (GRCm39) missense probably damaging 1.00
R9099:Trem1 UTSW 17 48,544,271 (GRCm39) missense possibly damaging 0.61
Posted On 2014-01-21