Incidental Mutation 'IGL01407:Treml4'
ID79837
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Treml4
Ensembl Gene ENSMUSG00000051682
Gene Nametriggering receptor expressed on myeloid cells-like 4
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.079) question?
Stock #IGL01407
Quality Score
Status
Chromosome17
Chromosomal Location48264295-48275360 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 48264849 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 93 (D93E)
Ref Sequence ENSEMBL: ENSMUSP00000054121 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059873] [ENSMUST00000125426] [ENSMUST00000136272] [ENSMUST00000153420] [ENSMUST00000154335]
Predicted Effect possibly damaging
Transcript: ENSMUST00000059873
AA Change: D93E

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000054121
Gene: ENSMUSG00000051682
AA Change: D93E

DomainStartEndE-ValueType
low complexity region 7 18 N/A INTRINSIC
IG 32 137 6.51e-3 SMART
transmembrane domain 200 222 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000125426
AA Change: D89E

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000119177
Gene: ENSMUSG00000051682
AA Change: D89E

DomainStartEndE-ValueType
low complexity region 7 18 N/A INTRINSIC
IG 28 133 6.51e-3 SMART
transmembrane domain 196 218 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000136272
AA Change: D93E

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000120550
Gene: ENSMUSG00000051682
AA Change: D93E

DomainStartEndE-ValueType
low complexity region 7 18 N/A INTRINSIC
IG 32 137 6.51e-3 SMART
transmembrane domain 192 214 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000153420
AA Change: D93E

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000115290
Gene: ENSMUSG00000051682
AA Change: D93E

DomainStartEndE-ValueType
low complexity region 7 18 N/A INTRINSIC
IG 32 137 6.51e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000154335
AA Change: D93E

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000118772
Gene: ENSMUSG00000051682
AA Change: D93E

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
IG 32 137 6.51e-3 SMART
transmembrane domain 201 223 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele do not exhibit any significant alterations in the uptake and cross-presentation of dying cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T A 2: 69,245,944 D1140V probably damaging Het
Ak1 G T 2: 32,633,495 probably benign Het
Ano1 A T 7: 144,637,111 L411H probably benign Het
Atad2 A T 15: 58,104,525 N569K probably benign Het
Bst2 C A 8: 71,537,186 R81L probably damaging Het
Cd4 G A 6: 124,879,378 T50I probably benign Het
Chrna5 C T 9: 55,004,399 T57M possibly damaging Het
Cp A T 3: 19,977,205 D602V possibly damaging Het
Drd2 T C 9: 49,400,815 I156T probably damaging Het
Elp4 G A 2: 105,792,308 R349W probably damaging Het
Eml6 G A 11: 29,755,021 R1508* probably null Het
Etl4 T C 2: 20,743,856 L335S probably damaging Het
Fat3 A T 9: 16,378,023 I68K probably benign Het
Fyco1 G T 9: 123,828,879 A744D probably damaging Het
Gm22165 G T 3: 64,105,465 probably benign Het
Gse1 T C 8: 120,553,587 M1T probably null Het
Hs3st5 A T 10: 36,833,408 H313L probably damaging Het
Hsd17b3 T C 13: 64,062,905 Y212C probably damaging Het
Hyal5 G T 6: 24,876,407 S93I probably benign Het
Itgb1 T C 8: 128,722,834 V578A probably benign Het
Klf12 A T 14: 100,109,858 N12K possibly damaging Het
Krt40 C T 11: 99,541,219 C222Y probably damaging Het
Lrrn2 T C 1: 132,937,227 L10P probably damaging Het
Lrsam1 T C 2: 32,947,903 Y213C probably damaging Het
Mitf C A 6: 98,017,931 T277K possibly damaging Het
Ncan C T 8: 70,101,957 R1070H probably benign Het
Nr4a3 A G 4: 48,083,201 E578G probably benign Het
Patj A G 4: 98,413,050 T191A possibly damaging Het
Pign A G 1: 105,589,302 V533A probably benign Het
Smad5 G A 13: 56,735,817 V339I probably benign Het
Spem2 T A 11: 69,817,239 Y300F possibly damaging Het
Trank1 T G 9: 111,364,722 S605A probably damaging Het
Tsc22d2 T A 3: 58,416,503 V272E probably damaging Het
Vmn2r19 T A 6: 123,329,867 F445I possibly damaging Het
Zfp712 T A 13: 67,042,166 Q99L possibly damaging Het
Zfp719 A T 7: 43,584,187 K10I probably benign Het
Other mutations in Treml4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01451:Treml4 APN 17 48264995 splice site probably benign
IGL01787:Treml4 APN 17 48264704 missense probably damaging 1.00
R0027:Treml4 UTSW 17 48264934 missense possibly damaging 0.82
R1975:Treml4 UTSW 17 48272793 missense probably damaging 1.00
R4013:Treml4 UTSW 17 48264809 missense probably benign 0.09
R4327:Treml4 UTSW 17 48274389 missense probably damaging 0.98
R5586:Treml4 UTSW 17 48264899 missense probably damaging 1.00
R6220:Treml4 UTSW 17 48264848 missense possibly damaging 0.91
R6510:Treml4 UTSW 17 48274444 missense probably benign
R6964:Treml4 UTSW 17 48272819 critical splice donor site probably null
Posted On2013-11-05