|Institutional Source||Beutler Lab|
|Gene Name||myomesin 2|
|Is this an essential gene?||Probably non essential (E-score: 0.102)|
|Stock #||R5108 (G1)|
|Chromosomal Location||15057653-15133541 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 15132667 bp|
|Amino Acid Change||Valine to Glutamic Acid at position 1368 (V1368E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000033842 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000033842]|
|Predicted Effect||probably damaging
AA Change: V1368E
PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
AA Change: V1368E
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.352|
|Coding Region Coverage||
|Validation Efficiency||99% (79/80)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The giant protein titin, together with its associated proteins, interconnects the major structure of sarcomeres, the M bands and Z discs. The C-terminal end of the titin string extends into the M line, where it binds tightly to M-band constituents of apparent molecular masses of 190 kD and 165 kD. The predicted MYOM2 protein contains 1,465 amino acids. Like MYOM1, MYOM2 has a unique N-terminal domain followed by 12 repeat domains with strong homology to either fibronectin type III or immunoglobulin C2 domains. Protein sequence comparisons suggested that the MYOM2 protein and bovine M protein are identical. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Myom2||
(F):5'- TGGCTGAAATCAGTGTGGTC -3'
(R):5'- TGAGATGTCTGGGATCTTCTCC -3'
(F):5'- GCTGAAATCAGTGTGGTCTTTTC -3'
(R):5'- ACTGACAGTGACATCGATCTTC -3'