Incidental Mutation 'IGL01323:Triml1'
ID 74149
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Triml1
Ensembl Gene ENSMUSG00000031651
Gene Name tripartite motif family-like 1
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # IGL01323
Quality Score
Status
Chromosome 8
Chromosomal Location 43582844-43594523 bp(-) (GRCm39)
Type of Mutation splice site (4 bp from exon)
DNA Base Change (assembly) T to C at 43591600 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000050267 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059692]
AlphaFold Q8BVP1
Predicted Effect probably null
Transcript: ENSMUST00000059692
SMART Domains Protein: ENSMUSP00000050267
Gene: ENSMUSG00000031651

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
Coding Region Coverage
Validation Efficiency
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfgef2 A G 2: 166,713,415 (GRCm39) D1272G probably damaging Het
Ascl2 A G 7: 142,522,125 (GRCm39) S108P probably benign Het
B3gat1 T C 9: 26,667,206 (GRCm39) V146A possibly damaging Het
Barhl1 C T 2: 28,805,558 (GRCm39) S45N probably benign Het
Birc6 C T 17: 74,929,920 (GRCm39) A2370V probably damaging Het
C1qtnf7 A G 5: 43,766,602 (GRCm39) D67G possibly damaging Het
Cand2 A G 6: 115,762,086 (GRCm39) T171A probably benign Het
Ccdc77 T C 6: 120,311,757 (GRCm39) Q247R probably benign Het
Cenpp A T 13: 49,801,118 (GRCm39) V100D probably damaging Het
Cep135 A G 5: 76,739,612 (GRCm39) T3A probably benign Het
Eef2k T C 7: 120,484,038 (GRCm39) probably benign Het
Fga T C 3: 82,937,518 (GRCm39) S132P probably damaging Het
Gpr6 T A 10: 40,947,555 (GRCm39) N9I possibly damaging Het
Gvin2 A G 7: 105,546,009 (GRCm39) S2348P possibly damaging Het
Hacd3 A G 9: 64,905,587 (GRCm39) F184L probably damaging Het
Heatr1 T C 13: 12,413,819 (GRCm39) I132T possibly damaging Het
Igfbp7 A G 5: 77,499,884 (GRCm39) probably benign Het
Ighv8-6 T C 12: 115,129,477 (GRCm39) D93G possibly damaging Het
Izumo3 A G 4: 92,034,627 (GRCm39) probably benign Het
Jade2 T C 11: 51,716,165 (GRCm39) T347A possibly damaging Het
Kif18a A G 2: 109,128,787 (GRCm39) T419A probably benign Het
Krt34 A G 11: 99,929,606 (GRCm39) S267P possibly damaging Het
Krt4 T G 15: 101,828,716 (GRCm39) K383Q probably damaging Het
Lgals7 G T 7: 28,564,989 (GRCm39) E42D probably benign Het
Morc2b A G 17: 33,356,293 (GRCm39) V493A possibly damaging Het
Mtif2 T A 11: 29,491,447 (GRCm39) S557R probably damaging Het
Nup43 T A 10: 7,545,320 (GRCm39) F83I probably benign Het
Oosp2 A G 19: 11,624,825 (GRCm39) L155S probably damaging Het
Or1o1 G T 17: 37,717,031 (GRCm39) M197I probably benign Het
Plxnd1 T A 6: 115,943,760 (GRCm39) T1180S possibly damaging Het
Prpf39 T A 12: 65,089,498 (GRCm39) F79I possibly damaging Het
Prph G A 15: 98,956,517 (GRCm39) S465N possibly damaging Het
Purg A T 8: 33,876,631 (GRCm39) I90L probably damaging Het
Pxdn C A 12: 30,037,136 (GRCm39) Q305K probably benign Het
R3hdm1 G A 1: 128,144,280 (GRCm39) S816N probably benign Het
Src G A 2: 157,311,423 (GRCm39) G461R probably damaging Het
Tmem201 G A 4: 149,804,045 (GRCm39) probably benign Het
Tnfrsf22 G A 7: 143,197,111 (GRCm39) P76L probably damaging Het
Upp1 A G 11: 9,086,100 (GRCm39) *312W probably null Het
Wdfy3 G T 5: 102,042,930 (GRCm39) S1940R probably damaging Het
Xpc T C 6: 91,469,335 (GRCm39) Y804C probably damaging Het
Xrn2 C T 2: 146,876,767 (GRCm39) probably benign Het
Zfp106 A T 2: 120,354,945 (GRCm39) D1275E possibly 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
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
R0400:Triml1 UTSW 8 43,594,077 (GRCm39) missense probably benign 0.03
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
Posted On 2013-10-07