|Institutional Source||Beutler Lab|
|Gene Name||calsequestrin 1|
|Synonyms||CSQ-1, CSQ1, CSQ, sCSQ|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||PIT4377001 (G1)|
|Chromosomal Location||172209894-172219868 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 172212001 bp (GRCm38)|
|Amino Acid Change||Threonine to Serine at position 336 (T336S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000003554 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000003554] [ENSMUST00000170700]|
AA Change: T336S
PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
AA Change: T336S
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the skeletal muscle specific member of the calsequestrin protein family. Calsequestrin functions as a luminal sarcoplasmic reticulum calcium sensor in both cardiac and skeletal muscle cells. This protein, also known as calmitine, functions as a calcium regulator in the mitochondria of skeletal muscle. This protein is absent in patients with Duchenne and Becker types of muscular dystrophy. [provided by RefSeq, Jun 2013]
PHENOTYPE: Mice homozygous for an insertional mutation that inactivates the gene exhibit structural alterations of the Ca2+ release units, an increased frequency of mitochondria, and significantly impaired calcium handling in skeletal muscle. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Casq1||
(F):5'- CAGTGCTCGTTTCCTTGACAG -3'
(R):5'- TTTACCTACAACCCAGTGTCTG -3'
(F):5'- CGTTTCCTTGACAGTCAGAGAAC -3'
(R):5'- GGTTGCTGGCTGTCCCTC -3'