|Institutional Source||Beutler Lab|
|Gene Name||myosin binding protein C, fast-type|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R8830 (G1)|
|Chromosomal Location||44501699-44524656 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 44512541 bp (GRCm38)|
|Amino Acid Change||Valine to Aspartic acid at position 495 (V495D)|
|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]
AA Change: V495D
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: V495D
|Coding Region Coverage||
|Validation Efficiency||100% (68/68)|
|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'- CTATGACCTCCATAGCAACTAGG -3'
(R):5'- GCTCCCTGCTAGATGTCTCT -3'
(F):5'- CTCCATAGCAACTAGGGATCTC -3'
(R):5'- CCTAGCTTACTTGATGAGACCAGG -3'