Incidental Mutation 'IGL02519:Trim16'
ID296896
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trim16
Ensembl Gene ENSMUSG00000047821
Gene Nametripartite motif-containing 16
SynonymsEBBP, 9130006M08Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02519
Quality Score
Status
Chromosome11
Chromosomal Location62820231-62850808 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 62834079 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Valine at position 144 (E144V)
Ref Sequence ENSEMBL: ENSMUSP00000104343 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055006] [ENSMUST00000072639] [ENSMUST00000108703]
Predicted Effect probably benign
Transcript: ENSMUST00000055006
AA Change: E231V

PolyPhen 2 Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000055542
Gene: ENSMUSG00000047821
AA Change: E231V

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 possibly damaging
Transcript: ENSMUST00000072639
AA Change: E231V

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000072432
Gene: ENSMUSG00000047821
AA Change: E231V

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 possibly damaging
Transcript: ENSMUST00000108703
AA Change: E144V

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000104343
Gene: ENSMUSG00000047821
AA Change: E144V

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
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 (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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 36,895,315 E370G probably damaging Het
Adamts13 A T 2: 26,978,675 I224F probably damaging Het
Adamts17 A G 7: 67,124,973 T947A possibly damaging Het
Ankfn1 T C 11: 89,405,678 E75G probably benign Het
Arfgef1 G T 1: 10,209,668 H225N probably benign Het
Arsi A G 18: 60,917,067 S341G probably damaging Het
Aspm T A 1: 139,461,927 probably benign Het
Cacna1i C T 15: 80,361,874 R490* probably null Het
Cd33 C T 7: 43,528,729 probably benign Het
Clmn T C 12: 104,791,853 I135V probably damaging Het
Crebbp A T 16: 4,101,593 N795K possibly damaging Het
Dhps A G 8: 85,073,299 D126G probably damaging Het
Dlg2 G T 7: 91,940,115 V196L possibly damaging Het
Dsg1c T A 18: 20,283,733 I897N probably damaging Het
Dzip3 A G 16: 48,928,396 L1059S probably damaging Het
Epha7 A T 4: 28,821,494 T220S possibly damaging Het
Fgf17 A G 14: 70,638,528 I88T probably damaging Het
G3bp2 A G 5: 92,066,524 V137A possibly damaging Het
Gnal G A 18: 67,088,765 E80K unknown Het
Hectd1 T G 12: 51,769,111 S1393R probably damaging Het
Igsf6 T C 7: 121,068,273 I173M possibly damaging Het
Il2ra A C 2: 11,683,090 E227A possibly damaging Het
Iqcf6 C T 9: 106,627,280 R48C probably damaging Het
Kdm3a G T 6: 71,611,586 Q480K probably benign Het
Larp4b C A 13: 9,158,580 A423E probably benign Het
Magea6 T C X: 154,924,745 D105G probably benign Het
Nop53 C A 7: 15,939,272 probably benign Het
Olfr307 A T 7: 86,335,581 F272I probably benign Het
Olfr338 T C 2: 36,377,313 L179P possibly damaging Het
Pgghg A G 7: 140,944,981 T352A possibly damaging Het
Setd2 T C 9: 110,553,116 S1464P probably damaging Het
Sspo C A 6: 48,484,828 T3609N probably damaging Het
Sulf1 T A 1: 12,838,363 Y533* probably null Het
Thsd7b A G 1: 129,613,195 S346G probably benign Het
Tmem161b T A 13: 84,294,744 L261Q probably damaging Het
Tmem63b T A 17: 45,665,208 T493S possibly damaging Het
Tmprss11d A T 5: 86,306,305 C214S probably damaging Het
Unc13d T C 11: 116,070,533 Y356C probably damaging Het
Urgcp A T 11: 5,717,745 F198I probably benign Het
Vmn2r111 T C 17: 22,548,339 I726V possibly damaging Het
Zzz3 A T 3: 152,427,390 E28D probably damaging 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
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
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 On2015-04-16