Incidental Mutation 'R8234:Triml1'
ID 637267
Institutional Source Beutler Lab
Gene Symbol Triml1
Ensembl Gene ENSMUSG00000031651
Gene Name tripartite motif family-like 1
Synonyms
MMRRC Submission 067666-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # R8234 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 43582844-43594523 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43594285 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 49 (S49G)
Ref Sequence ENSEMBL: ENSMUSP00000050267 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059692]
AlphaFold Q8BVP1
Predicted Effect probably benign
Transcript: ENSMUST00000059692
AA Change: S49G

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000050267
Gene: ENSMUSG00000031651
AA Change: S49G

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
Meta Mutation Damage Score 0.1336 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.5%
  • 20x: 98.8%
Validation Efficiency 100% (49/49)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd4 T A 14: 54,499,133 (GRCm39) M38K probably benign Het
Ackr1 T A 1: 173,159,582 (GRCm39) R312S probably benign Het
Akap9 T C 5: 4,094,845 (GRCm39) V2213A probably benign Het
Alox5 T A 6: 116,390,835 (GRCm39) R439W probably damaging Het
Atrn A T 2: 130,864,920 (GRCm39) probably null Het
Casd1 A G 6: 4,601,209 (GRCm39) N14S probably damaging Het
Cry2 T C 2: 92,242,974 (GRCm39) S542G probably benign Het
Cyb5rl A G 4: 106,925,935 (GRCm39) Y39C probably damaging Het
Dmpk A T 7: 18,822,048 (GRCm39) K335N probably benign Het
Dnai1 A G 4: 41,625,221 (GRCm39) D395G probably benign Het
Dock4 C T 12: 40,884,837 (GRCm39) probably null Het
Eif1ad5 A T 12: 87,940,508 (GRCm39) I71L noncoding transcript Het
Fmo4 T C 1: 162,632,757 (GRCm39) D198G probably damaging Het
Foxc2 G A 8: 121,844,777 (GRCm39) R475Q probably damaging Het
Gipr C A 7: 18,898,533 (GRCm39) G37V unknown Het
Gpat3 T C 5: 101,005,076 (GRCm39) probably null Het
Hcn4 A G 9: 58,751,433 (GRCm39) D353G unknown Het
Hectd4 T A 5: 121,477,607 (GRCm39) N2843K possibly damaging Het
Hmcn1 C T 1: 150,469,761 (GRCm39) V4973M possibly damaging Het
Il20rb C T 9: 100,341,263 (GRCm39) S281N probably benign Het
Kcnh4 A T 11: 100,643,093 (GRCm39) N391K possibly damaging Het
Kitl A G 10: 99,887,708 (GRCm39) T6A probably damaging Het
Krt36 A G 11: 99,995,027 (GRCm39) Y182H probably damaging Het
Lrp1b T G 2: 41,202,668 (GRCm39) I1262L Het
Mtf1 A G 4: 124,738,039 (GRCm39) E644G probably benign Het
Mtx2 A G 2: 74,699,706 (GRCm39) Y159C probably damaging Het
Nags C T 11: 102,039,824 (GRCm39) S504F probably damaging Het
Ncam1 A T 9: 49,456,523 (GRCm39) F475L probably damaging Het
Nipal2 G T 15: 34,600,178 (GRCm39) T213N possibly damaging Het
Or52m1 T A 7: 102,289,678 (GRCm39) L75Q probably damaging Het
Or8h8 A G 2: 86,753,313 (GRCm39) S188P probably damaging Het
Pkm T C 9: 59,577,882 (GRCm39) V233A possibly damaging Het
Pros1 T A 16: 62,748,540 (GRCm39) I671N possibly damaging Het
Rasd1 T C 11: 59,855,118 (GRCm39) I121V probably damaging Het
Relch T C 1: 105,681,235 (GRCm39) S1180P possibly damaging Het
Samhd1 A G 2: 156,958,270 (GRCm39) probably null Het
Serpinb9f A T 13: 33,509,898 (GRCm39) Y30F probably benign Het
Slc5a10 T C 11: 61,564,107 (GRCm39) I543V probably benign Het
Stat5a A G 11: 100,770,129 (GRCm39) I469V possibly damaging Het
Sugct T C 13: 17,032,459 (GRCm39) E431G probably benign Het
Tecr C A 8: 84,299,880 (GRCm39) R133L possibly damaging Het
Tiparp A G 3: 65,439,002 (GRCm39) N106S probably benign Het
Trpm3 T A 19: 22,692,640 (GRCm39) S244T possibly damaging Het
Ttn T C 2: 76,553,324 (GRCm39) D31055G probably damaging Het
Vcp A T 4: 42,985,242 (GRCm39) I369N probably damaging Het
Vmn2r110 A C 17: 20,804,691 (GRCm39) N76K probably benign Het
Vmn2r12 T C 5: 109,234,074 (GRCm39) T713A probably benign Het
Vmn2r17 A T 5: 109,601,235 (GRCm39) K844N probably benign 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
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
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'- TCCCTTGACTTGGAGGTGAG -3'
(R):5'- ACCAGAAGTGTAGCCTTGTC -3'

Sequencing Primer
(F):5'- GGTGAGACATTAATGACACTCTGCTC -3'
(R):5'- GTCCTGATGTCCAACCATGAG -3'
Posted On 2020-07-13