Incidental Mutation 'IGL03130:Tsn'
ID410282
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tsn
Ensembl Gene ENSMUSG00000026374
Gene Nametranslin
SynonymsTB-RBP, 2610034C24Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.416) question?
Stock #IGL03130
Quality Score
Status
Chromosome1
Chromosomal Location118294778-118311739 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 118305269 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 102 (A102T)
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 possibly damaging
Transcript: ENSMUST00000027623
AA Change: A102T

PolyPhen 2 Score 0.618 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000027623
Gene: ENSMUSG00000026374
AA Change: A102T

DomainStartEndE-ValueType
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
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 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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtpbp1 T C 13: 59,474,589 E941G possibly damaging Het
AI314180 A T 4: 58,800,288 C1806S probably benign Het
Akap11 A T 14: 78,510,368 Y1526* probably null Het
Brd1 T C 15: 88,688,374 I1165V probably benign Het
Btbd11 G T 10: 85,388,483 probably null Het
Cdan1 T C 2: 120,727,912 D473G possibly damaging Het
Clstn3 G A 6: 124,459,263 L176F probably damaging Het
Ctif T C 18: 75,521,618 N279S probably benign Het
Dpy19l3 A G 7: 35,752,672 S16P probably benign Het
Fam151b T C 13: 92,450,193 Y244C probably benign Het
Gbf1 T C 19: 46,267,348 M750T possibly damaging Het
Gm11564 T A 11: 99,815,053 T184S unknown Het
Gnptab A G 10: 88,436,371 K958E possibly damaging Het
Hibch T C 1: 52,885,151 S162P possibly damaging Het
Itpr1 T C 6: 108,523,401 S2651P probably benign Het
Lyrm1 A G 7: 119,914,180 D56G probably damaging Het
Manba T C 3: 135,551,159 Y528H probably damaging Het
Npas2 A C 1: 39,313,028 E186D probably damaging Het
Olfr1314 A T 2: 112,091,821 D293E probably benign Het
Olfr371 A T 8: 85,230,629 I45F possibly damaging Het
Olfr867 C A 9: 20,055,372 L30F probably benign Het
Oraov1 A G 7: 144,916,460 E42G probably damaging Het
Pcdhb6 T A 18: 37,335,587 Y520* probably null Het
Plekhm1 C T 11: 103,377,381 R588H probably benign Het
Psg23 A T 7: 18,610,416 H371Q probably benign Het
Ptpn12 T C 5: 21,002,612 probably benign Het
Rela T C 19: 5,639,881 C120R probably damaging Het
Rps6kc1 T A 1: 190,799,811 I665F probably damaging Het
Spg21 A G 9: 65,473,708 Q99R probably benign Het
St14 A G 9: 31,097,071 probably null Het
Sult1c2 A T 17: 53,830,071 N274K probably benign Het
Syk T C 13: 52,622,732 V256A probably benign Het
Tcte1 A G 17: 45,533,296 D66G probably damaging Het
Tgm4 C T 9: 123,056,515 T374M probably damaging Het
Tns4 T C 11: 99,068,269 H668R probably damaging Het
Uvssa T A 5: 33,391,845 S350T possibly damaging Het
Vmn1r3 T A 4: 3,185,214 Y31F possibly damaging Het
Vmn2r114 A T 17: 23,296,996 probably benign Het
Vmn2r27 T C 6: 124,192,317 D618G possibly damaging Het
Vmn2r91 T A 17: 18,110,111 probably benign Het
Vti1a T C 19: 55,391,847 Y143H probably damaging Het
Zfand4 T A 6: 116,273,659 Y17N probably damaging Het
Zfp729a T C 13: 67,619,642 probably null Het
Zfp827 A G 8: 79,060,957 T251A probably damaging Het
Other mutations in Tsn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02887:Tsn APN 1 118309821 missense probably benign 0.00
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
R5582:Tsn UTSW 1 118305214 missense probably damaging 0.96
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
Posted On2016-08-02