|Institutional Source||Beutler Lab|
|Gene Name||myosin binding protein C, fast-type|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R2157 (G1)|
|Chromosomal Location||44501699-44524656 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to G at 44509845 bp|
|Amino Acid Change||Aspartic acid to Histidine at position 594 (D594H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000130127 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000165208]|
Solution structure of the fibronectin type-III domain of mouse myosin-binding protein C, Fast-type homolog [SOLUTION NMR]
Solution structure of the Ig-like domain(433- 525) of murine myosin-binding protein C, fast-type [SOLUTION NMR]
|Predicted Effect||possibly damaging
AA Change: D594H
PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: D594H
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.5363|
|Coding Region Coverage||
|Validation Efficiency||100% (80/80)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the myosin-binding protein C family. This family includes the fast-, slow- and cardiac-type isoforms, each of which is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The protein encoded by this locus is referred to as the fast-type isoform. Mutations in the related but distinct genes encoding the slow-type and cardiac-type isoforms have been associated with distal arthrogryposis, type 1 and hypertrophic cardiomyopathy, respectively. [provided by RefSeq, Jul 2012]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mybpc2||
(F):5'- TGAGAGTCAGAGGTGCTCTC -3'
(R):5'- ATGCCAGGCCGTATGTACAC -3'
(F):5'- TCAGAGGTGCTCTCGGAGG -3'
(R):5'- CAGATAAACTGTGACTCTTGGGAAC -3'