Incidental Mutation 'R5582:Tsn'
Institutional Source Beutler Lab
Gene Symbol Tsn
Ensembl Gene ENSMUSG00000026374
Gene Nametranslin
SynonymsTB-RBP, 2610034C24Rik
MMRRC Submission 043136-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.467) question?
Stock #R5582 (G1)
Quality Score225
Status Validated
Chromosomal Location118294778-118311739 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 118305214 bp
Amino Acid Change Threonine to Isoleucine at position 120 (T120I)
Ref Sequence ENSEMBL: ENSMUSP00000027623 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027623]
PDB Structure Crystal Structure of Mouse Testis/Brain RNA-binding Protein (TB-RBP) [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000027623
AA Change: T120I

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000027623
Gene: ENSMUSG00000026374
AA Change: T120I

Pfam:Translin 19 216 1.8e-59 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186608
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188512
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188882
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189768
Meta Mutation Damage Score 0.1024 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.6%
Validation Efficiency 98% (61/62)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a DNA-binding protein which specifically recognizes conserved target sequences at the breakpoint junction of chromosomal translocations. Translin polypeptides form a multimeric structure that is responsible for its DNA-binding activity. Recombination-associated motifs and translin-binding sites are present at recombination hotspots and may serve as indicators of breakpoints in genes which are fused by translocations. These binding activities may play a crucial role in chromosomal translocation in lymphoid neoplasms. This protein encoded by this gene, when complexed with translin-associated protein X, also forms a Mg ion-dependent endoribonuclease that promotes RNA-induced silencing complex (RISC) activation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]
PHENOTYPE: Inactivation of this gene results in reduced female fertility, growth defects, and abnormalities related to activity and dexterity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A C 11: 9,636,639 probably null Het
Agxt2 A G 15: 10,399,159 D444G probably damaging Het
Aldh1b1 G T 4: 45,802,750 R96L probably damaging Het
Ank2 T C 3: 126,946,305 probably benign Het
Apob A G 12: 8,010,788 Y3090C probably damaging Het
Bbx A G 16: 50,223,356 S647P probably damaging Het
Brinp2 T C 1: 158,249,409 Y372C probably damaging Het
Btaf1 T C 19: 36,988,173 probably null Het
Cdk5rap1 T A 2: 154,345,974 E477D probably benign Het
Cfap65 G A 1: 74,907,518 probably benign Het
Chdh A G 14: 30,036,859 Y587C probably damaging Het
Chek2 T C 5: 110,868,035 V472A probably damaging Het
Clasrp A C 7: 19,586,856 I326S probably damaging Het
Clic6 A T 16: 92,499,454 Q334L possibly damaging Het
Cyp2d11 A T 15: 82,392,118 probably null Het
Entpd7 T C 19: 43,704,994 I171T probably damaging Het
Fosl1 T C 19: 5,455,267 probably benign Het
Gm10130 T C 2: 150,363,052 probably benign Het
Gm6124 A G 7: 39,220,198 noncoding transcript Het
H3f3a A T 1: 180,810,085 probably benign Het
Idh2 CCAGGGC CC 7: 80,098,339 probably null Het
Igkv3-7 A G 6: 70,608,006 Y110C probably damaging Het
Ints9 C T 14: 65,028,896 T399M possibly damaging Het
Kctd19 G A 8: 105,408,443 T62M probably damaging Het
Lsmem1 A G 12: 40,180,644 probably null Het
Obscn T C 11: 59,099,976 probably null Het
Olfr340 T C 2: 36,453,221 I212T probably benign Het
Olfr748 T C 14: 50,710,968 Y213H probably damaging Het
Otop3 T A 11: 115,339,339 M14K unknown Het
Pibf1 C T 14: 99,137,130 A335V possibly damaging Het
Pkd1l2 A T 8: 117,040,783 L1256* probably null Het
Plbd2 T C 5: 120,493,106 E202G probably benign Het
Ppp1r37 A G 7: 19,532,294 S516P probably damaging Het
Ppt2 G A 17: 34,617,399 T229M probably damaging Het
Prr14 A T 7: 127,476,397 I526F probably damaging Het
Scel T C 14: 103,583,139 probably benign Het
Scn9a A T 2: 66,565,029 probably benign Het
Senp6 T A 9: 80,089,876 D57E possibly damaging Het
Setd5 T C 6: 113,114,925 Y217H probably damaging Het
Sgcg T C 14: 61,225,305 T198A probably damaging Het
Sipa1 C T 19: 5,654,701 G622D probably benign Het
Slc27a2 C T 2: 126,564,690 A98V probably damaging Het
Slitrk3 G T 3: 73,050,404 P345Q probably benign Het
Slx4 T C 16: 3,985,788 D1054G possibly damaging Het
Sned1 A T 1: 93,282,361 T898S probably damaging Het
Tg C T 15: 66,693,435 P1209S probably damaging Het
Tmem63b C A 17: 45,667,763 V294L probably benign Het
Tnks G A 8: 34,940,861 R238C probably benign Het
Txnrd1 T A 10: 82,895,980 F479I possibly damaging Het
Ubr1 T C 2: 120,915,407 M849V probably benign Het
Usp13 T C 3: 32,911,589 S574P probably damaging Het
Vmn1r69 A G 7: 10,580,508 Y20H probably damaging Het
Zfp780b T A 7: 27,964,827 N101I probably damaging Het
Other mutations in Tsn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02887:Tsn APN 1 118309821 missense probably benign 0.00
IGL03130:Tsn APN 1 118305269 missense possibly damaging 0.62
R0017:Tsn UTSW 1 118300859 missense probably damaging 1.00
R0017:Tsn UTSW 1 118300859 missense probably damaging 1.00
R1751:Tsn UTSW 1 118300888 missense probably damaging 1.00
R1767:Tsn UTSW 1 118300888 missense probably damaging 1.00
R1773:Tsn UTSW 1 118305239 missense probably benign 0.00
R3802:Tsn UTSW 1 118305296 missense probably damaging 1.00
R4398:Tsn UTSW 1 118311069 utr 5 prime probably benign
R5492:Tsn UTSW 1 118304713 missense probably damaging 1.00
R6247:Tsn UTSW 1 118305209 missense probably benign 0.18
R7297:Tsn UTSW 1 118300861 nonsense probably null
R7691:Tsn UTSW 1 118309775 missense probably benign 0.05
R8103:Tsn UTSW 1 118304707 missense probably benign 0.01
R8218:Tsn UTSW 1 118305254 missense probably damaging 1.00
R8817:Tsn UTSW 1 118304740 missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On2016-10-26