|Institutional Source||Beutler Lab|
|Gene Name||tripartite motif-containing 55|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6658 (G1)|
|Chromosomal Location||19644474-19692421 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 19691555 bp|
|Amino Acid Change||Arginine to Cysteine at position 532 (R532C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029139 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029139] [ENSMUST00000061294]|
|Predicted Effect||probably damaging
AA Change: R532C
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: R532C
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.2531|
|Coding Region Coverage||
|Validation Efficiency||96% (53/55)|
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'- AGCGTGAATCACTTGAATGGC -3'
(R):5'- CATCTGGAATTAAAGGGTGGTG -3'
(F):5'- GTGAATCACTTGAATGGCTCTTGACC -3'
(R):5'- CTGGAATTAAAGGGTGGTGGTGTTG -3'