|Institutional Source||Beutler Lab|
|Gene Name||collagen, type VI, alpha 1|
|Is this an essential gene?||Possibly non essential (E-score: 0.304)|
|Stock #||R2082 (G1)|
|Chromosomal Location||76708792-76726168 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 76709596 bp|
|Amino Acid Change||Leucine to Proline at position 1014 (L1014P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000001147 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000001147]|
|Predicted Effect||probably damaging
AA Change: L1014P
PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: L1014P
|Coding Region Coverage||
|MGI Phenotype||Strain: 2153356
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for this targeted mutation display a myopathic disorder that resembles human Bethlem myopathy. Loss of contractile strength in affected muscles is associated with an unexpected latent mitochondrial dysfunction in myofibers, as well as spontaneous apoptosis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Col6a1||
(F):5'- AGCCACAGGGGACATTACAC -3'
(R):5'- CATTGAGAAGGCTGTGCAGG -3'
(F):5'- CAAAGAGTGTGCATCTCAGCGTTC -3'
(R):5'- AAGGCTGTGCAGGAGGCC -3'