|Institutional Source||Beutler Lab|
|Gene Name||tripartite motif-containing 55|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R2079 (G1)|
|Chromosomal Location||19644474-19692421 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 19644666 bp (GRCm38)|
|Amino Acid Change||Leucine to Valine at position 20 (L20V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029139 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029139]|
AA Change: L20V
PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: L20V
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a RING zinc finger, a motif known to be involved in protein-protein interactions. This protein associates transiently with microtubules, myosin, and titin during muscle sarcomere assembly. It may act as a transient adaptor and plays a regulatory role in the assembly of sarcomeres. Four alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit increased heart and muscle to body weight ratios and cardiac hypertrophy. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Trim55||
(F):5'- CCTGGAACAATGTCCTCCAC -3'
(R):5'- AAAACTCTCTAAGGGAACTGGGC -3'
(F):5'- TGGAACAATGTCCTCCACAGAGAG -3'
(R):5'- CTCTCTAAGGGAACTGGGCTTTGATC -3'