Incidental Mutation 'R0400:Triml1'
ID 38133
Institutional Source Beutler Lab
Gene Symbol Triml1
Ensembl Gene ENSMUSG00000031651
Gene Name tripartite motif family-like 1
Synonyms
MMRRC Submission 038605-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # R0400 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 43582844-43594523 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43594077 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 118 (V118A)
Ref Sequence ENSEMBL: ENSMUSP00000050267 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059692]
AlphaFold Q8BVP1
Predicted Effect probably benign
Transcript: ENSMUST00000059692
AA Change: V118A

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000050267
Gene: ENSMUSG00000031651
AA Change: V118A

DomainStartEndE-ValueType
RING 22 62 1.14e-8 SMART
coiled coil region 196 235 N/A INTRINSIC
PRY 291 343 4.64e-23 SMART
Pfam:SPRY 346 462 6.6e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211446
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211541
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.8%
Validation Efficiency 97% (76/78)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a tripartite motif family protein with similarities to E3 ubiquitin-protein ligases. While the function of the encoded protein has not been determined, the orthologous protein in mouse has been shown to bind ubiquitin-specific protease 5 and is involved in the blastocyst development stage. [provided by RefSeq, Sep 2016]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik T A 11: 30,376,360 (GRCm39) H169L probably benign Het
9130230L23Rik T C 5: 66,147,699 (GRCm39) D28G unknown Het
Abca12 T A 1: 71,298,935 (GRCm39) probably benign Het
Acsl5 T C 19: 55,282,143 (GRCm39) V573A probably damaging Het
Agap1 A G 1: 89,770,972 (GRCm39) probably benign Het
Arid2 A G 15: 96,254,806 (GRCm39) probably benign Het
B430305J03Rik T A 3: 61,271,556 (GRCm39) probably benign Het
Brsk2 T C 7: 141,552,290 (GRCm39) L584P probably damaging Het
C2cd4c A G 10: 79,449,043 (GRCm39) Y35H probably damaging Het
Cacul1 A G 19: 60,551,591 (GRCm39) probably benign Het
Cers3 T C 7: 66,414,078 (GRCm39) V88A probably benign Het
Cnnm1 A T 19: 43,456,803 (GRCm39) H614L probably damaging Het
Col1a1 T A 11: 94,832,195 (GRCm39) probably benign Het
Cyp1b1 T A 17: 80,021,016 (GRCm39) D242V probably damaging Het
Cyp4a31 T C 4: 115,420,915 (GRCm39) M1T probably null Het
Dbn1 C T 13: 55,622,729 (GRCm39) E585K probably damaging Het
Dclk2 A T 3: 86,721,054 (GRCm39) probably null Het
Dnah17 A G 11: 117,972,904 (GRCm39) S2010P probably damaging Het
Dram2 T C 3: 106,480,934 (GRCm39) L246P probably damaging Het
Dus2 A T 8: 106,775,309 (GRCm39) T279S probably benign Het
Epn2 T C 11: 61,423,522 (GRCm39) probably null Het
Esco2 C A 14: 66,069,155 (GRCm39) V52F possibly damaging Het
Fbp1 T A 13: 63,012,882 (GRCm39) T104S probably benign Het
Foxj2 A T 6: 122,810,767 (GRCm39) Q249L possibly damaging Het
Galnt7 T C 8: 58,037,023 (GRCm39) Y122C probably damaging Het
Gimd1 T C 3: 132,340,588 (GRCm39) Y35H probably benign Het
Gipc2 A G 3: 151,871,305 (GRCm39) F74L probably damaging Het
Glt1d1 T A 5: 127,734,139 (GRCm39) probably benign Het
Hmcn2 A G 2: 31,290,141 (GRCm39) T2325A probably damaging Het
Iffo1 A G 6: 125,130,434 (GRCm39) K471R probably damaging Het
Ireb2 G A 9: 54,803,782 (GRCm39) R491H probably benign Het
Isg20 A G 7: 78,566,473 (GRCm39) N141D possibly damaging Het
Kmt5c G A 7: 4,749,243 (GRCm39) R100H probably benign Het
Lrp1b T C 2: 40,640,926 (GRCm39) D3506G probably benign Het
Lrrn4 A C 2: 132,719,940 (GRCm39) F287V probably benign Het
Maco1 T C 4: 134,555,427 (GRCm39) K349E probably benign Het
Mmrn1 A C 6: 60,954,099 (GRCm39) K793N probably benign Het
Muc16 A G 9: 18,421,830 (GRCm39) V8227A possibly damaging Het
Myh2 C T 11: 67,083,424 (GRCm39) probably benign Het
Nalcn T A 14: 123,528,372 (GRCm39) probably benign Het
Nfia T C 4: 97,951,373 (GRCm39) V400A probably damaging Het
Nxph4 T A 10: 127,362,127 (GRCm39) T255S possibly damaging Het
Olfm5 G A 7: 103,803,386 (GRCm39) T359I probably damaging Het
Or1e33 T C 11: 73,738,867 (GRCm39) Y28C probably benign Het
Or5t18 A G 2: 86,636,995 (GRCm39) M116T probably damaging Het
Or8b44 A G 9: 38,410,207 (GRCm39) M81V possibly damaging Het
Or8g21 G T 9: 38,906,494 (GRCm39) P79Q probably damaging Het
Pak5 T C 2: 135,939,499 (GRCm39) I545M possibly damaging Het
Pcdhb15 T C 18: 37,608,948 (GRCm39) F727L probably benign Het
Pds5b T A 5: 150,646,818 (GRCm39) N202K possibly damaging Het
Phlpp1 T A 1: 106,320,664 (GRCm39) I1553N probably benign Het
Pink1 T C 4: 138,045,229 (GRCm39) T282A probably damaging Het
Prdm2 A G 4: 142,838,240 (GRCm39) F1706S probably benign Het
Pycr1 G A 11: 120,532,352 (GRCm39) probably benign Het
Rigi A G 4: 40,235,257 (GRCm39) Y78H probably benign Het
Skint9 A G 4: 112,271,198 (GRCm39) S71P probably damaging Het
Smad1 A G 8: 80,098,399 (GRCm39) probably benign Het
Snapc5 A T 9: 64,087,789 (GRCm39) E33D probably damaging Het
Snrnp40 T C 4: 130,256,443 (GRCm39) L56P probably damaging Het
Stab2 A C 10: 86,708,474 (GRCm39) I1697S probably damaging Het
Tfap2a G T 13: 40,870,888 (GRCm39) probably benign Het
Tph2 A G 10: 114,916,025 (GRCm39) probably benign Het
Ttbk2 T A 2: 120,580,723 (GRCm39) T538S probably benign Het
Ttn A G 2: 76,545,616 (GRCm39) V32569A possibly damaging Het
U2af1 T A 17: 31,867,166 (GRCm39) Y158F probably benign Het
Usp7 A T 16: 8,534,496 (GRCm39) probably benign Het
Vdr A G 15: 97,767,232 (GRCm39) S179P probably benign Het
Vps13d A C 4: 144,792,397 (GRCm39) S663A probably benign Het
Wdr62 T A 7: 29,940,887 (GRCm39) T844S possibly damaging Het
Wipi1 C T 11: 109,467,956 (GRCm39) R407Q probably damaging Het
Zbtb43 A G 2: 33,343,909 (GRCm39) C439R probably damaging Het
Zfp507 T A 7: 35,491,171 (GRCm39) H704L probably damaging Het
Zzef1 G A 11: 72,786,068 (GRCm39) R2080K probably damaging Het
Other mutations in Triml1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00768:Triml1 APN 8 43,593,998 (GRCm39) splice site probably benign
IGL00920:Triml1 APN 8 43,591,719 (GRCm39) missense probably damaging 1.00
IGL01319:Triml1 APN 8 43,594,434 (GRCm39) utr 5 prime probably benign
IGL01323:Triml1 APN 8 43,591,600 (GRCm39) splice site probably null
IGL01998:Triml1 APN 8 43,594,350 (GRCm39) missense probably damaging 1.00
IGL02394:Triml1 APN 8 43,591,629 (GRCm39) missense possibly damaging 0.57
R0359:Triml1 UTSW 8 43,583,542 (GRCm39) missense probably damaging 1.00
R1799:Triml1 UTSW 8 43,583,512 (GRCm39) missense probably damaging 1.00
R2008:Triml1 UTSW 8 43,583,642 (GRCm39) missense probably damaging 0.97
R2363:Triml1 UTSW 8 43,594,408 (GRCm39) missense probably damaging 0.99
R2405:Triml1 UTSW 8 43,583,320 (GRCm39) missense probably damaging 1.00
R5333:Triml1 UTSW 8 43,583,327 (GRCm39) missense possibly damaging 0.82
R6093:Triml1 UTSW 8 43,593,755 (GRCm39) missense probably benign 0.04
R6244:Triml1 UTSW 8 43,591,793 (GRCm39) nonsense probably null
R6808:Triml1 UTSW 8 43,594,258 (GRCm39) missense probably damaging 0.99
R6860:Triml1 UTSW 8 43,583,603 (GRCm39) missense probably damaging 1.00
R7231:Triml1 UTSW 8 43,589,408 (GRCm39) missense probably benign
R7826:Triml1 UTSW 8 43,591,803 (GRCm39) missense possibly damaging 0.95
R8054:Triml1 UTSW 8 43,583,420 (GRCm39) missense probably damaging 0.99
R8100:Triml1 UTSW 8 43,591,717 (GRCm39) missense probably benign
R8234:Triml1 UTSW 8 43,594,285 (GRCm39) missense probably benign 0.25
R9135:Triml1 UTSW 8 43,583,624 (GRCm39) missense probably damaging 1.00
Z1088:Triml1 UTSW 8 43,583,435 (GRCm39) missense probably damaging 1.00
Z1177:Triml1 UTSW 8 43,593,742 (GRCm39) missense possibly damaging 0.73
Predicted Primers PCR Primer
(F):5'- CCATGCTACATGAAGATACGTGCCC -3'
(R):5'- GCACAGCTTTTGTCTGATGTGCC -3'

Sequencing Primer
(F):5'- CATGGCTGTTACCGACAGAG -3'
(R):5'- GTCTGATGTGCCTCCTCAAGAG -3'
Posted On 2013-05-23