Incidental Mutation 'R0007:Trim16'
ID8032
Institutional Source Beutler Lab
Gene Symbol Trim16
Ensembl Gene ENSMUSG00000047821
Gene Nametripartite motif-containing 16
SynonymsEBBP, 9130006M08Rik
MMRRC Submission 038302-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0007 (G1)
Quality Score
Status Validated
Chromosome11
Chromosomal Location62820231-62850808 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 62829118 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 84 (M84V)
Ref Sequence ENSEMBL: ENSMUSP00000104343 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055006] [ENSMUST00000072639] [ENSMUST00000108703]
Predicted Effect probably benign
Transcript: ENSMUST00000055006
AA Change: M171V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000055542
Gene: ENSMUSG00000047821
AA Change: M171V

DomainStartEndE-ValueType
Blast:BBOX 64 113 6e-24 BLAST
BBOX 117 157 3.24e-4 SMART
coiled coil region 171 196 N/A INTRINSIC
coiled coil region 237 265 N/A INTRINSIC
PRY 364 417 1.41e-22 SMART
SPRY 418 543 6.4e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000072639
AA Change: M171V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000072432
Gene: ENSMUSG00000047821
AA Change: M171V

DomainStartEndE-ValueType
Blast:BBOX 64 113 5e-24 BLAST
BBOX 117 157 3.24e-4 SMART
coiled coil region 171 196 N/A INTRINSIC
coiled coil region 237 265 N/A INTRINSIC
PRY 364 417 1.41e-22 SMART
Pfam:SPRY 418 483 1.4e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108703
AA Change: M84V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000104343
Gene: ENSMUSG00000047821
AA Change: M84V

DomainStartEndE-ValueType
Blast:BBOX 1 26 9e-10 BLAST
BBOX 30 70 3.24e-4 SMART
coiled coil region 84 109 N/A INTRINSIC
coiled coil region 150 178 N/A INTRINSIC
PRY 277 330 1.41e-22 SMART
SPRY 331 456 6.4e-27 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128623
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 75.9%
  • 3x: 62.7%
  • 10x: 33.8%
  • 20x: 16.7%
Validation Efficiency 95% (54/57)
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 (TRIM) family member that contains two B box domains and a coiled-coiled region that are characteristic of the B box zinc finger protein family. While it lacks a RING domain found in other TRIM proteins, the encoded protein can homodimerize or heterodimerize with other TRIM proteins and has E3 ubiquitin ligase activity. This gene is also a tumor suppressor and is involved in secretory autophagy. [provided by RefSeq, Jan 2017]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik T C 7: 43,498,042 probably benign Het
Cdh8 A T 8: 99,230,456 L205* probably null Het
Cntnap2 A C 6: 45,992,073 N250H possibly damaging Het
Col7a1 T C 9: 108,961,403 V973A unknown Het
Denr T A 5: 123,924,814 Y127N probably damaging Het
Diaph3 C A 14: 86,866,620 R776L possibly damaging Het
F2 T C 2: 91,630,607 E260G probably benign Het
Il1rl1 C T 1: 40,446,171 T261I possibly damaging Het
Lama3 T A 18: 12,497,881 probably benign Het
Map2k5 A T 9: 63,293,724 I209N probably damaging Het
Myo1b T A 1: 51,776,254 R650S probably damaging Het
Nek10 T A 14: 14,840,574 H153Q probably benign Het
Nlrp9a T C 7: 26,551,090 probably benign Het
Pcnx4 T A 12: 72,555,579 F281I possibly damaging Het
Pcsk5 C A 19: 17,654,861 G314C probably damaging Het
Pkhd1l1 T C 15: 44,574,398 probably benign Het
Polr2b T C 5: 77,340,437 V828A probably benign Het
Slc44a4 G A 17: 34,921,254 A60T probably damaging Het
Sparcl1 T A 5: 104,087,080 Q523L probably damaging Het
Tnfrsf21 C T 17: 43,038,213 H239Y probably benign Het
Trhr T C 15: 44,229,151 probably benign Het
Trpm3 G A 19: 22,987,529 A1453T probably benign Het
Zfp990 C A 4: 145,537,438 H335Q probably benign Het
Other mutations in Trim16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00661:Trim16 APN 11 62837232 splice site probably benign
IGL01060:Trim16 APN 11 62820704 missense probably benign 0.06
IGL01568:Trim16 APN 11 62820858 missense probably benign 0.05
IGL01659:Trim16 APN 11 62820695 missense probably benign 0.00
IGL02519:Trim16 APN 11 62834079 missense possibly damaging 0.49
IGL02662:Trim16 APN 11 62840557 missense possibly damaging 0.91
FR4589:Trim16 UTSW 11 62820695 intron probably benign
FR4976:Trim16 UTSW 11 62820689 intron probably benign
R0007:Trim16 UTSW 11 62829118 missense probably benign 0.00
R0346:Trim16 UTSW 11 62840694 missense probably benign 0.00
R0410:Trim16 UTSW 11 62820471 start gained probably benign
R1725:Trim16 UTSW 11 62820505 start codon destroyed possibly damaging 0.91
R3845:Trim16 UTSW 11 62836672 splice site probably benign
R3879:Trim16 UTSW 11 62840607 missense probably damaging 1.00
R5023:Trim16 UTSW 11 62836812 missense probably benign 0.36
R5344:Trim16 UTSW 11 62820925 missense probably damaging 1.00
R6919:Trim16 UTSW 11 62840869 missense possibly damaging 0.86
R7490:Trim16 UTSW 11 62834123 missense probably damaging 1.00
R7525:Trim16 UTSW 11 62820754 missense probably damaging 1.00
X0026:Trim16 UTSW 11 62829137 missense probably benign 0.02
Posted On2012-11-20