Incidental Mutation 'R4398:Tsn'
ID 325572
Institutional Source Beutler Lab
Gene Symbol Tsn
Ensembl Gene ENSMUSG00000026374
Gene Name translin
Synonyms 2610034C24Rik, TB-RBP
MMRRC Submission 041130-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.409) question?
Stock # R4398 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 118226244-118239463 bp(-) (GRCm39)
Type of Mutation utr 5 prime
DNA Base Change (assembly) C to T at 118238799 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000027623 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027623]
AlphaFold Q62348
PDB Structure Crystal Structure of Mouse Testis/Brain RNA-binding Protein (TB-RBP) [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000027623
SMART Domains Protein: ENSMUSP00000027623
Gene: ENSMUSG00000026374

DomainStartEndE-ValueType
Pfam:Translin 19 216 1.8e-59 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186163
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186608
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188512
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188882
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189768
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 96% (53/55)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 C A 15: 94,231,576 (GRCm39) R871L possibly damaging Het
Adcy5 G A 16: 35,089,363 (GRCm39) C520Y probably damaging Het
AI661453 G A 17: 47,779,042 (GRCm39) probably benign Het
Bptf T C 11: 107,001,670 (GRCm39) K481E probably damaging Het
Cnot10 T A 9: 114,460,949 (GRCm39) K74* probably null Het
Ctc1 C T 11: 68,913,697 (GRCm39) P200S probably damaging Het
Dact1 T C 12: 71,363,959 (GRCm39) Y210H probably damaging Het
Dbn1 T C 13: 55,623,194 (GRCm39) T430A probably benign Het
Dmd A C X: 82,765,624 (GRCm39) T657P probably benign Het
Efnb2 C T 8: 8,670,832 (GRCm39) R256H possibly damaging Het
Eif4a1 T C 11: 69,560,070 (GRCm39) I116M possibly damaging Het
F730035P03Rik A T 7: 99,429,475 (GRCm39) noncoding transcript Het
Fbn1 C T 2: 125,239,701 (GRCm39) V329I probably benign Het
Gpr20 G A 15: 73,568,125 (GRCm39) T88I probably benign Het
Herc1 T G 9: 66,386,735 (GRCm39) V3783G probably benign Het
Khdc1a A G 1: 21,420,617 (GRCm39) D79G possibly damaging Het
Klk1b16 A T 7: 43,790,851 (GRCm39) I218F probably damaging Het
Malrd1 C T 2: 16,155,594 (GRCm39) T2001I unknown Het
Mia3 A G 1: 183,111,733 (GRCm39) S556P probably damaging Het
Myo3a T A 2: 22,467,854 (GRCm39) D369E probably benign Het
Nelfa T C 5: 34,058,623 (GRCm39) D279G possibly damaging Het
Ntrk3 A T 7: 77,900,517 (GRCm39) C607* probably null Het
Or13a20 T C 7: 140,232,741 (GRCm39) V283A possibly damaging Het
Pclo A T 5: 14,825,380 (GRCm39) Q1371L probably damaging Het
Pdzd2 A T 15: 12,376,061 (GRCm39) V1358E probably benign Het
Pgr T C 9: 8,903,750 (GRCm39) probably null Het
Prag1 A G 8: 36,570,809 (GRCm39) D464G probably damaging Het
Prickle4 A G 17: 48,001,456 (GRCm39) probably benign Het
Prim2 A G 1: 33,551,192 (GRCm39) Y309H probably damaging Het
Prkaa1 A G 15: 5,206,642 (GRCm39) Q464R possibly damaging Het
Rab36 G A 10: 74,880,328 (GRCm39) V63I probably damaging Het
Rint1 T A 5: 23,999,445 (GRCm39) I78K possibly damaging Het
Rnf130 T A 11: 49,962,205 (GRCm39) F217Y probably benign Het
Smad7 T C 18: 75,527,234 (GRCm39) V360A probably damaging Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Stag1 A G 9: 100,838,659 (GRCm39) probably benign Het
Tlr12 T A 4: 128,509,988 (GRCm39) D754V probably benign Het
Tmf1 G A 6: 97,155,857 (GRCm39) P43L probably damaging Het
Togaram1 A G 12: 65,027,630 (GRCm39) N873S probably benign Het
Ubn1 A G 16: 4,882,289 (GRCm39) K250R probably damaging Het
Vmn1r25 A T 6: 57,955,812 (GRCm39) V159D probably damaging Het
Vmn2r89 T C 14: 51,689,551 (GRCm39) L18P probably damaging Het
Vps8 T G 16: 21,323,216 (GRCm39) N689K probably damaging Het
Ythdc1 T A 5: 86,963,513 (GRCm39) D30E possibly damaging Het
Ythdc1 G T 5: 86,983,679 (GRCm39) probably benign Het
Zfp407 G A 18: 84,580,856 (GRCm39) Q86* probably null Het
Zfp521 C T 18: 13,979,601 (GRCm39) E271K probably benign Het
Other mutations in Tsn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02887:Tsn APN 1 118,237,551 (GRCm39) missense probably benign 0.00
IGL03130:Tsn APN 1 118,232,999 (GRCm39) missense possibly damaging 0.62
nellie UTSW 1 118,232,470 (GRCm39) missense probably damaging 1.00
R0017:Tsn UTSW 1 118,228,589 (GRCm39) missense probably damaging 1.00
R0017:Tsn UTSW 1 118,228,589 (GRCm39) missense probably damaging 1.00
R1751:Tsn UTSW 1 118,228,618 (GRCm39) missense probably damaging 1.00
R1767:Tsn UTSW 1 118,228,618 (GRCm39) missense probably damaging 1.00
R1773:Tsn UTSW 1 118,232,969 (GRCm39) missense probably benign 0.00
R3802:Tsn UTSW 1 118,233,026 (GRCm39) missense probably damaging 1.00
R5492:Tsn UTSW 1 118,232,443 (GRCm39) missense probably damaging 1.00
R5582:Tsn UTSW 1 118,232,944 (GRCm39) missense probably damaging 0.96
R6247:Tsn UTSW 1 118,232,939 (GRCm39) missense probably benign 0.18
R7297:Tsn UTSW 1 118,228,591 (GRCm39) nonsense probably null
R7691:Tsn UTSW 1 118,237,505 (GRCm39) missense probably benign 0.05
R8103:Tsn UTSW 1 118,232,437 (GRCm39) missense probably benign 0.01
R8218:Tsn UTSW 1 118,232,984 (GRCm39) missense probably damaging 1.00
R8817:Tsn UTSW 1 118,232,470 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTCGAATCCGGAACCAAGAG -3'
(R):5'- CTGTTTCCGGAGATGCCTAC -3'

Sequencing Primer
(F):5'- GAGGCGGCCTAACCTAAAC -3'
(R):5'- TCGGGATTCTGGGCAAGAGC -3'
Posted On 2015-07-06