Incidental Mutation 'IGL01760:Trim13'
ID153254
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trim13
Ensembl Gene ENSMUSG00000035235
Gene Nametripartite motif-containing 13
SynonymsLEU5, RNF77, Rfp2, 3110001L12Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01760
Quality Score
Status
Chromosome14
Chromosomal Location61598247-61605946 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 61605723 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 396 (N396K)
Ref Sequence ENSEMBL: ENSMUSP00000128509 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039562] [ENSMUST00000051184] [ENSMUST00000165015] [ENSMUST00000225582]
Predicted Effect probably benign
Transcript: ENSMUST00000039562
AA Change: N396K

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000045009
Gene: ENSMUSG00000035235
AA Change: N396K

DomainStartEndE-ValueType
RING 10 57 1.31e-8 SMART
BBOX 89 131 5.55e-12 SMART
transmembrane domain 316 338 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000051184
SMART Domains Protein: ENSMUSP00000055327
Gene: ENSMUSG00000046168

DomainStartEndE-ValueType
BTB 5 106 8.7e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165015
AA Change: N396K

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000128509
Gene: ENSMUSG00000035235
AA Change: N396K

DomainStartEndE-ValueType
RING 10 57 1.31e-8 SMART
BBOX 89 131 5.55e-12 SMART
transmembrane domain 316 338 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182259
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182325
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182768
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183054
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183066
Predicted Effect probably benign
Transcript: ENSMUST00000225582
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes 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. This gene is located on chromosome 13 within the minimal deletion region for B-cell chronic lymphocytic leukemia. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre5 T A 8: 83,731,957 T147S probably benign Het
BC030867 T C 11: 102,255,596 C233R probably benign Het
Chst3 A T 10: 60,186,470 V185D probably damaging Het
Col14a1 A C 15: 55,423,459 D892A unknown Het
Dopey1 A G 9: 86,519,923 T1059A probably benign Het
Erlec1 A C 11: 30,934,731 S441A probably benign Het
Frmd4b G T 6: 97,308,702 T289N probably damaging Het
Gm2016 A T 12: 87,877,021 probably benign Het
Gm6133 G A 18: 78,350,175 R128Q probably benign Het
Gnai2 A G 9: 107,616,518 S155P probably damaging Het
Hspg2 T C 4: 137,512,671 S517P possibly damaging Het
Ighv9-1 C A 12: 114,094,194 E29* probably null Het
Lrp1 T C 10: 127,573,501 K1583R probably benign Het
Ltbp1 C T 17: 75,227,150 T211M probably damaging Het
Mttp A G 3: 138,111,736 S418P probably benign Het
Napa A G 7: 16,098,744 N23S possibly damaging Het
Odf2 C A 2: 29,914,460 Q347K probably damaging Het
Ogdhl A G 14: 32,339,937 D504G probably damaging Het
Olfr433 T C 1: 174,042,625 L225P probably damaging Het
Pdxdc1 A T 16: 13,859,152 N273K probably damaging Het
Rslcan18 T C 13: 67,113,951 I11V probably benign Het
Spidr G T 16: 15,912,560 R664S possibly damaging Het
Tead3 T C 17: 28,333,081 N385S probably benign Het
Trp53bp2 C T 1: 182,448,428 A160V possibly damaging Het
Vmn2r69 A G 7: 85,406,864 S689P possibly damaging Het
Vmn2r79 A T 7: 87,002,158 Q255L probably benign Het
Wsb1 T C 11: 79,242,041 Y276C probably damaging Het
Zfp236 G T 18: 82,621,422 N1233K probably damaging Het
Other mutations in Trim13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00788:Trim13 APN 14 61605670 missense probably benign
IGL00811:Trim13 APN 14 61604857 unclassified probably null
IGL02411:Trim13 APN 14 61605149 missense probably damaging 1.00
IGL02625:Trim13 APN 14 61605550 missense probably benign 0.00
IGL02926:Trim13 APN 14 61605244 unclassified probably null
IGL03231:Trim13 APN 14 61605545 missense probably benign 0.11
R0089:Trim13 UTSW 14 61604717 missense possibly damaging 0.95
R0811:Trim13 UTSW 14 61605700 missense probably benign
R0812:Trim13 UTSW 14 61605700 missense probably benign
R1515:Trim13 UTSW 14 61605659 missense probably benign 0.03
R1778:Trim13 UTSW 14 61605619 missense probably benign 0.13
R2018:Trim13 UTSW 14 61604886 nonsense probably null
R2019:Trim13 UTSW 14 61604886 nonsense probably null
R4865:Trim13 UTSW 14 61605517 missense probably benign
R5456:Trim13 UTSW 14 61605074 missense possibly damaging 0.91
R5860:Trim13 UTSW 14 61604739 missense probably damaging 0.96
R5921:Trim13 UTSW 14 61605089 missense probably benign 0.00
R7026:Trim13 UTSW 14 61605113 nonsense probably null
R7147:Trim13 UTSW 14 61604631 missense probably damaging 1.00
Posted On2014-02-04