|Institutional Source||Beutler Lab|
|Gene Name||cystatin F (leukocystatin)|
|Synonyms||cystatin-like metastasis-associated protein, CMAP, Leukocystatin|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0166 (G1)|
|Chromosomal Location||150570415-150578944 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 150575727 bp|
|Amino Acid Change||Serine to Proline at position 31 (S31P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000086606 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000089200]|
|Predicted Effect||probably benign
AA Change: S31P
PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
AA Change: S31P
|Meta Mutation Damage Score||0.1083|
|Coding Region Coverage||
|Validation Efficiency||91% (49/54)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. This gene encodes a glycosylated cysteine protease inhibitor with a putative role in immune regulation through inhibition of a unique target in the hematopoietic system. Expression of the protein has been observed in various human cancer cell lines established from malignant tumors. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in no abnormal phenotype. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cst7||
(F):5'- CTGCTCTGACAAGGTGTGAGACTG -3'
(R):5'- AGGTGCCAGCTATTGATCCTAGCTC -3'
(F):5'- CCCTGGGTTCTGAAAAAGGTC -3'
(R):5'- TCCTCACCTGTACCAGGGC -3'