Incidental Mutation 'IGL01658:Trim2'
ID 103083
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trim2
Ensembl Gene ENSMUSG00000027993
Gene Name tripartite motif-containing 2
Synonyms neural activity-related ring finger protein, narf
Accession Numbers
Essential gene? Probably non essential (E-score: 0.207) question?
Stock # IGL01658
Quality Score
Status
Chromosome 3
Chromosomal Location 84067746-84214184 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 84117592 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 8 (I8V)
Ref Sequence ENSEMBL: ENSMUSP00000121055 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054990] [ENSMUST00000065380] [ENSMUST00000107691] [ENSMUST00000107692] [ENSMUST00000107693] [ENSMUST00000107695] [ENSMUST00000147901] [ENSMUST00000122849] [ENSMUST00000154152] [ENSMUST00000132283]
AlphaFold Q9ESN6
Predicted Effect probably benign
Transcript: ENSMUST00000054990
AA Change: I34V

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000049902
Gene: ENSMUSG00000027993
AA Change: I34V

DomainStartEndE-ValueType
RING 49 89 3.5e-9 SMART
BBOX 139 180 3.52e-14 SMART
BBC 187 313 1.7e-38 SMART
IG_FLMN 350 450 2.41e-30 SMART
Pfam:NHL 512 539 2e-8 PFAM
Pfam:NHL 559 586 1.1e-8 PFAM
Pfam:NHL 601 628 2.1e-7 PFAM
Pfam:NHL 648 675 5.8e-10 PFAM
Pfam:NHL 695 722 3.5e-12 PFAM
Pfam:NHL 739 766 1.2e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000065380
AA Change: I8V

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000069922
Gene: ENSMUSG00000027993
AA Change: I8V

DomainStartEndE-ValueType
RING 23 63 3.5e-9 SMART
BBOX 113 154 3.52e-14 SMART
BBC 161 287 1.7e-38 SMART
IG_FLMN 324 424 2.41e-30 SMART
Pfam:NHL 486 513 8e-8 PFAM
Pfam:NHL 533 560 6.6e-8 PFAM
Pfam:NHL 575 602 1.1e-6 PFAM
Pfam:NHL 622 649 5.6e-9 PFAM
Pfam:NHL 669 696 4.1e-12 PFAM
Pfam:NHL 713 740 5.1e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107691
AA Change: I8V

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000103319
Gene: ENSMUSG00000027993
AA Change: I8V

DomainStartEndE-ValueType
RING 23 63 3.5e-9 SMART
BBOX 113 154 3.52e-14 SMART
BBC 161 287 1.7e-38 SMART
IG_FLMN 324 424 2.41e-30 SMART
Pfam:NHL 486 513 8e-8 PFAM
Pfam:NHL 533 560 6.6e-8 PFAM
Pfam:NHL 575 602 1.1e-6 PFAM
Pfam:NHL 622 649 5.6e-9 PFAM
Pfam:NHL 669 696 4.1e-12 PFAM
Pfam:NHL 713 740 5.1e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107692
AA Change: I8V

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000103320
Gene: ENSMUSG00000027993
AA Change: I8V

DomainStartEndE-ValueType
RING 23 63 3.5e-9 SMART
BBOX 113 154 3.52e-14 SMART
BBC 161 287 1.7e-38 SMART
IG_FLMN 324 424 2.41e-30 SMART
Pfam:NHL 486 513 8e-8 PFAM
Pfam:NHL 533 560 6.6e-8 PFAM
Pfam:NHL 575 602 1.1e-6 PFAM
Pfam:NHL 622 649 5.6e-9 PFAM
Pfam:NHL 669 696 4.1e-12 PFAM
Pfam:NHL 713 740 5.1e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107693
AA Change: I8V

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000103321
Gene: ENSMUSG00000027993
AA Change: I8V

DomainStartEndE-ValueType
RING 23 63 3.5e-9 SMART
BBOX 113 154 3.52e-14 SMART
BBC 161 287 1.7e-38 SMART
IG_FLMN 324 424 2.41e-30 SMART
Pfam:NHL 486 513 8e-8 PFAM
Pfam:NHL 533 560 6.6e-8 PFAM
Pfam:NHL 575 602 1.1e-6 PFAM
Pfam:NHL 622 649 5.6e-9 PFAM
Pfam:NHL 669 696 4.1e-12 PFAM
Pfam:NHL 713 740 5.1e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107695
AA Change: I25V

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000103323
Gene: ENSMUSG00000027993
AA Change: I25V

DomainStartEndE-ValueType
RING 40 80 3.5e-9 SMART
BBOX 130 171 3.52e-14 SMART
BBC 178 304 1.7e-38 SMART
IG_FLMN 341 441 2.41e-30 SMART
Pfam:NHL 503 530 9.1e-8 PFAM
Pfam:NHL 550 577 7.5e-8 PFAM
Pfam:NHL 592 619 1.2e-6 PFAM
Pfam:NHL 639 666 6.3e-9 PFAM
Pfam:NHL 686 713 4.7e-12 PFAM
Pfam:NHL 730 757 5.8e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147901
AA Change: I8V

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000121055
Gene: ENSMUSG00000027993
AA Change: I8V

DomainStartEndE-ValueType
RING 23 63 3.5e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000122849
AA Change: I26V

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000120981
Gene: ENSMUSG00000027993
AA Change: I26V

DomainStartEndE-ValueType
RING 41 81 3.5e-9 SMART
BBOX 131 172 3.52e-14 SMART
Blast:BBC 179 213 3e-15 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000154152
AA Change: I24V

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000115914
Gene: ENSMUSG00000027993
AA Change: I24V

DomainStartEndE-ValueType
RING 39 70 9.3e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000132283
AA Change: I8V

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000118888
Gene: ENSMUSG00000027993
AA Change: I8V

DomainStartEndE-ValueType
RING 23 63 3.5e-9 SMART
BBOX 113 154 3.52e-14 SMART
Blast:BBC 161 191 2e-12 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137596
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140856
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136651
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128574
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 member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic filaments. It plays a neuroprotective role and functions as an E3-ubiquitin ligase in proteasome-mediated degradation of target proteins. Mutations in this gene can cause early-onset axonal neuropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit tremors, ataxia and seizures associated with neurodegeneration of Purkinje cells, deep cerebellar nuclei and retinal ganglion cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Blm A G 7: 80,113,689 (GRCm39) S1203P probably damaging Het
Cdc25a C A 9: 109,705,194 (GRCm39) probably null Het
Cstf1 T A 2: 172,214,993 (GRCm39) I38N probably benign Het
Fam168a C A 7: 100,462,180 (GRCm39) P42T possibly damaging Het
Fstl5 A G 3: 76,389,562 (GRCm39) Q253R possibly damaging Het
Gpr26 C T 7: 131,585,834 (GRCm39) T268I probably benign Het
Herc2 T A 7: 55,809,200 (GRCm39) Y2567N probably damaging Het
Hspg2 C T 4: 137,292,237 (GRCm39) T4035I probably damaging Het
Iqgap3 G A 3: 88,023,278 (GRCm39) R523Q possibly damaging Het
Mad2l1 T A 6: 66,514,586 (GRCm39) V85E possibly damaging Het
Mical2 T C 7: 111,914,205 (GRCm39) Y292H probably damaging Het
Myom2 T C 8: 15,127,880 (GRCm39) S239P probably damaging Het
Ncoa3 T C 2: 165,893,222 (GRCm39) probably benign Het
Nthl1 A G 17: 24,853,819 (GRCm39) T155A probably benign Het
Or2a14 T A 6: 43,130,784 (GRCm39) S182T probably damaging Het
Plcxd2 T G 16: 45,785,424 (GRCm39) E327A probably benign Het
Prr36 G A 8: 4,265,243 (GRCm39) P169L probably damaging Het
Satb1 C A 17: 52,082,279 (GRCm39) M458I probably benign Het
Smarcal1 T C 1: 72,625,290 (GRCm39) S146P probably benign Het
Taf4b T C 18: 14,977,477 (GRCm39) S750P probably damaging Het
Tha1 A G 11: 117,762,438 (GRCm39) L102P probably damaging Het
Trf A G 9: 103,104,055 (GRCm39) F103L probably benign Het
Usf1 C T 1: 171,244,867 (GRCm39) S177L possibly damaging Het
Usp12 T C 5: 146,688,739 (GRCm39) D205G probably damaging Het
Vps13b A G 15: 35,671,479 (GRCm39) T1661A probably damaging Het
Other mutations in Trim2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00418:Trim2 APN 3 84,115,596 (GRCm39) missense probably damaging 1.00
IGL02943:Trim2 APN 3 84,085,483 (GRCm39) missense probably benign 0.45
PIT4142001:Trim2 UTSW 3 84,098,164 (GRCm39) missense probably benign 0.00
R0149:Trim2 UTSW 3 84,098,083 (GRCm39) missense probably damaging 1.00
R0158:Trim2 UTSW 3 84,117,476 (GRCm39) splice site probably benign
R0361:Trim2 UTSW 3 84,098,083 (GRCm39) missense probably damaging 1.00
R1270:Trim2 UTSW 3 84,074,984 (GRCm39) missense probably damaging 1.00
R1651:Trim2 UTSW 3 84,074,957 (GRCm39) critical splice donor site probably null
R1756:Trim2 UTSW 3 84,098,107 (GRCm39) missense possibly damaging 0.52
R1938:Trim2 UTSW 3 84,085,099 (GRCm39) missense possibly damaging 0.94
R2046:Trim2 UTSW 3 84,115,596 (GRCm39) missense probably damaging 1.00
R2192:Trim2 UTSW 3 84,098,225 (GRCm39) nonsense probably null
R3696:Trim2 UTSW 3 84,098,158 (GRCm39) missense probably benign 0.05
R4981:Trim2 UTSW 3 84,085,042 (GRCm39) missense probably damaging 1.00
R5389:Trim2 UTSW 3 84,074,960 (GRCm39) missense probably null 0.60
R5735:Trim2 UTSW 3 84,075,029 (GRCm39) missense probably damaging 1.00
R7228:Trim2 UTSW 3 84,099,488 (GRCm39) missense probably benign 0.01
R7297:Trim2 UTSW 3 84,117,540 (GRCm39) missense probably damaging 1.00
R7640:Trim2 UTSW 3 84,098,213 (GRCm39) missense probably benign 0.07
R7853:Trim2 UTSW 3 84,212,537 (GRCm39) splice site probably benign
R7993:Trim2 UTSW 3 84,098,026 (GRCm39) missense probably damaging 1.00
R8205:Trim2 UTSW 3 84,100,646 (GRCm39) missense probably damaging 1.00
R8516:Trim2 UTSW 3 84,115,627 (GRCm39) missense probably damaging 1.00
R9056:Trim2 UTSW 3 84,080,128 (GRCm39) missense probably damaging 1.00
X0065:Trim2 UTSW 3 84,072,480 (GRCm39) missense possibly damaging 0.95
Posted On 2014-01-21