|Institutional Source||Beutler Lab|
|Gene Name||stanniocalcin 1|
|Is this an essential gene?||Possibly non essential (E-score: 0.406)|
|Stock #||R0318 (G1)|
|Chromosomal Location||69029238-69041804 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 69038418 bp|
|Amino Acid Change||Glutamine to Leucine at position 220 (Q220L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000014957 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000014957]|
|Predicted Effect||probably damaging
AA Change: Q220L
PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
AA Change: Q220L
|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'- ACAGACTTGTCCGAAGCCTTCTGG -3'
(R):5'- TCTCTTGAGGAGAGGCAGAATGACC -3'
(F):5'- TGGAATGTGATGAAGACACGGTC -3'
(R):5'- GACCACACATGTATTCTGTTGG -3'