|Institutional Source||Beutler Lab|
|Gene Name||myosin binding protein C, fast-type|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R2406 (G1)|
|Chromosomal Location||44501699-44524656 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 44521725 bp|
|Amino Acid Change||Isoleucine to Asparagine at position 134 (I134N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000130127 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000035323] [ENSMUST00000165208]|
|Predicted Effect||probably benign
|Predicted Effect||possibly damaging
AA Change: I134N
PolyPhen 2 Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)
AA Change: I134N
|Meta Mutation Damage Score||0.0536|
|Coding Region Coverage||
|Validation Efficiency||95% (42/44)|
|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'- CTCCTATGCAAAGCCTGGAG -3'
(R):5'- GATCTACAGCGCGGACTAACTAG -3'
(F):5'- TATGCAAAGCCTGGAGACCTTGTC -3'
(R):5'- ACTAACTAGGGCCGGCTG -3'