Incidental Mutation 'IGL03130:Tsn'
ID 410282
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tsn
Ensembl Gene ENSMUSG00000026374
Gene Name translin
Synonyms 2610034C24Rik, TB-RBP
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.409) question?
Stock # IGL03130
Quality Score
Status
Chromosome 1
Chromosomal Location 118226244-118239463 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 118232999 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 102 (A102T)
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 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
Abtb3 G T 10: 85,224,347 (GRCm39) probably null Het
Agtpbp1 T C 13: 59,622,403 (GRCm39) E941G possibly damaging Het
Akap11 A T 14: 78,747,808 (GRCm39) Y1526* probably null Het
Brd1 T C 15: 88,572,577 (GRCm39) I1165V probably benign Het
Cdan1 T C 2: 120,558,393 (GRCm39) D473G possibly damaging Het
Clstn3 G A 6: 124,436,222 (GRCm39) L176F probably damaging Het
Ctif T C 18: 75,654,689 (GRCm39) N279S probably benign Het
Dpy19l3 A G 7: 35,452,097 (GRCm39) S16P probably benign Het
Ecpas A T 4: 58,800,288 (GRCm39) C1806S probably benign Het
Fam151b T C 13: 92,586,701 (GRCm39) Y244C probably benign Het
Gbf1 T C 19: 46,255,787 (GRCm39) M750T possibly damaging Het
Gm11564 T A 11: 99,705,879 (GRCm39) T184S unknown Het
Gnptab A G 10: 88,272,233 (GRCm39) K958E possibly damaging Het
Hibch T C 1: 52,924,310 (GRCm39) S162P possibly damaging Het
Itpr1 T C 6: 108,500,362 (GRCm39) S2651P probably benign Het
LTO1 A G 7: 144,470,197 (GRCm39) E42G probably damaging Het
Lyrm1 A G 7: 119,513,403 (GRCm39) D56G probably damaging Het
Manba T C 3: 135,256,920 (GRCm39) Y528H probably damaging Het
Npas2 A C 1: 39,352,109 (GRCm39) E186D probably damaging Het
Or4f61 A T 2: 111,922,166 (GRCm39) D293E probably benign Het
Or7c19 A T 8: 85,957,258 (GRCm39) I45F possibly damaging Het
Or7d11 C A 9: 19,966,668 (GRCm39) L30F probably benign Het
Pcdhb6 T A 18: 37,468,640 (GRCm39) Y520* probably null Het
Plekhm1 C T 11: 103,268,207 (GRCm39) R588H probably benign Het
Psg23 A T 7: 18,344,341 (GRCm39) H371Q probably benign Het
Ptpn12 T C 5: 21,207,610 (GRCm39) probably benign Het
Rela T C 19: 5,689,909 (GRCm39) C120R probably damaging Het
Rps6kc1 T A 1: 190,532,008 (GRCm39) I665F probably damaging Het
Spg21 A G 9: 65,380,990 (GRCm39) Q99R probably benign Het
St14 A G 9: 31,008,367 (GRCm39) probably null Het
Sult1c2 A T 17: 54,137,099 (GRCm39) N274K probably benign Het
Syk T C 13: 52,776,768 (GRCm39) V256A probably benign Het
Tcte1 A G 17: 45,844,222 (GRCm39) D66G probably damaging Het
Tgm4 C T 9: 122,885,580 (GRCm39) T374M probably damaging Het
Tns4 T C 11: 98,959,095 (GRCm39) H668R probably damaging Het
Uvssa T A 5: 33,549,189 (GRCm39) S350T possibly damaging Het
Vmn1r3 T A 4: 3,185,214 (GRCm39) Y31F possibly damaging Het
Vmn2r114 A T 17: 23,515,970 (GRCm39) probably benign Het
Vmn2r27 T C 6: 124,169,276 (GRCm39) D618G possibly damaging Het
Vmn2r91 T A 17: 18,330,373 (GRCm39) probably benign Het
Vti1a T C 19: 55,380,279 (GRCm39) Y143H probably damaging Het
Zfand4 T A 6: 116,250,620 (GRCm39) Y17N probably damaging Het
Zfp729a T C 13: 67,767,761 (GRCm39) probably null Het
Zfp827 A G 8: 79,787,586 (GRCm39) T251A probably damaging Het
Other mutations in Tsn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02887:Tsn APN 1 118,237,551 (GRCm39) missense probably benign 0.00
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
R4398:Tsn UTSW 1 118,238,799 (GRCm39) utr 5 prime probably benign
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
Posted On 2016-08-02