|Institutional Source||Beutler Lab|
|Gene Name||stanniocalcin 1|
|Is this an essential gene?||Possibly essential (E-score: 0.512)|
|Stock #||R8001 (G1)|
|Chromosomal Location||69029238-69041804 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 69038395 bp|
|Amino Acid Change||Asparagine to Lysine at position 212 (N212K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000014957 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000014957]|
|Predicted Effect||probably benign
AA Change: N212K
PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: N212K
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a secreted, homodimeric glycoprotein that is expressed in a wide variety of tissues and may have autocrine or paracrine functions. The gene contains a 5' UTR rich in CAG trinucleotide repeats. The encoded protein contains 11 conserved cysteine residues and is phosphorylated by protein kinase C exclusively on its serine residues. The protein may play a role in the regulation of renal and intestinal calcium and phosphate transport, cell metabolism, or cellular calcium/phosphate homeostasis. Overexpression of human stanniocalcin 1 in mice produces high serum phosphate levels, dwarfism, and increased metabolic rate. This gene has altered expression in hepatocellular, ovarian, and breast cancers. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Stc1||
(F):5'- TTGGTGTCTGAACCTGCTCC -3'
(R):5'- ACACTCAAAGTTGGTGTGTCAAC -3'
(F):5'- GAGAATCTTTTCCCCAATGCAG -3'
(R):5'- CACCCCTAAAATGCTATTAGTTTGG -3'