|Institutional Source||Beutler Lab|
|Is this an essential gene?||Possibly essential (E-score: 0.509)|
|Stock #||R7297 (G1)|
|Chromosomal Location||118294778-118311739 bp(-) (GRCm38)|
|Type of Mutation||nonsense|
|DNA Base Change (assembly)||A to T at 118300861 bp|
|Amino Acid Change||Tyrosine to Stop codon at position 210 (Y210*)|
|Ref Sequence||ENSEMBL: ENSMUSP00000027623 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027623]|
|Predicted Effect||probably null
AA Change: Y210*
AA Change: Y210*
|Coding Region Coverage||
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||
|Other mutations in Tsn||
(F):5'- GGCAAGTGCACTGAAAATCAAC -3'
(R):5'- GCTGTCTGTCAACAGTGTCAC -3'
(F):5'- GTATTTCAATTCTGACACTCACAGC -3'
(R):5'- AGTGTCACTGCTGGAGACTACTC -3'