Incidental Mutation 'IGL02394:Triml1'
ID 293922
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 # IGL02394
Quality Score
Status
Chromosome 8
Chromosomal Location 43582844-43594523 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 43591629 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 243 (Q243L)
Ref Sequence ENSEMBL: ENSMUSP00000050267 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059692]
AlphaFold Q8BVP1
Predicted Effect possibly damaging
Transcript: ENSMUST00000059692
AA Change: Q243L

PolyPhen 2 Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000050267
Gene: ENSMUSG00000031651
AA Change: Q243L

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt3 G A 1: 176,886,985 (GRCm39) T288M probably damaging Het
Baat A T 4: 49,489,812 (GRCm39) probably benign Het
Bclaf3 A G X: 158,338,485 (GRCm39) Y444C probably damaging Het
Bcs1l A G 1: 74,629,459 (GRCm39) T166A probably damaging Het
Cep135 C T 5: 76,779,318 (GRCm39) T776I probably benign Het
Clasrp A G 7: 19,337,179 (GRCm39) L12P probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cyp4f15 A G 17: 32,911,609 (GRCm39) I164V possibly damaging Het
Eps15 T A 4: 109,170,162 (GRCm39) L155M probably damaging Het
Fbxl20 G A 11: 98,004,082 (GRCm39) R69W probably damaging Het
Galnt9 A G 5: 110,763,365 (GRCm39) M457V probably damaging Het
Gemin2 T A 12: 59,060,842 (GRCm39) probably null Het
Gm20521 T A 14: 55,135,499 (GRCm39) Y175N probably damaging Het
Gm3298 T A 14: 5,018,778 (GRCm38) C178S probably benign Het
Gpr37l1 T C 1: 135,094,746 (GRCm39) N166S probably damaging Het
Gpr45 A G 1: 43,069,272 (GRCm39) probably benign Het
Gpr75 T C 11: 30,842,190 (GRCm39) I365T possibly damaging Het
Gsdmc2 T C 15: 63,707,729 (GRCm39) R22G probably damaging Het
Il23r T C 6: 67,443,256 (GRCm39) probably benign Het
Itgam A T 7: 127,684,114 (GRCm39) T340S probably benign Het
Klk1b24 A G 7: 43,841,294 (GRCm39) D209G possibly damaging Het
Med13l A C 5: 118,886,898 (GRCm39) T1600P probably benign Het
Muc16 G T 9: 18,409,996 (GRCm39) H137Q probably damaging Het
Nin T C 12: 70,090,805 (GRCm39) E870G probably damaging Het
Or12k7 A G 2: 36,958,497 (GRCm39) Y60C probably damaging Het
Or5b120 A G 19: 13,480,228 (GRCm39) N174D probably damaging Het
Or6c215 A T 10: 129,638,182 (GRCm39) F71I possibly damaging Het
Pkhd1 T C 1: 20,269,710 (GRCm39) K3278R possibly damaging Het
Prlr A G 15: 10,328,664 (GRCm39) N380D probably benign Het
Rpgr A C X: 10,032,456 (GRCm39) S582R probably benign Het
Rph3a T C 5: 121,084,411 (GRCm39) probably null Het
Setd5 A G 6: 113,087,859 (GRCm39) H140R probably benign Het
Stoml3 C A 3: 53,405,540 (GRCm39) probably benign Het
Teddm1a A C 1: 153,767,545 (GRCm39) D3A probably benign Het
Tmem207 A G 16: 26,335,586 (GRCm39) probably benign Het
Usp5 G A 6: 124,799,672 (GRCm39) T274M probably damaging Het
Vav2 A G 2: 27,187,671 (GRCm39) probably benign Het
Wdr5b A G 16: 35,862,633 (GRCm39) N251D probably damaging Het
Wnk2 C A 13: 49,235,375 (GRCm39) probably null 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
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 2015-04-16