|Institutional Source||Beutler Lab|
|Gene Name||cystatin 11|
|Synonyms||mCST E1, 9230101F08Rik, CRES2, cystatin E1|
|Is this an essential gene?||Probably non essential (E-score: 0.060)|
|Stock #||R7140 (G1)|
|Chromosomal Location||148768609-148771497 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 148768729 bp|
|Amino Acid Change||Asparagine to Serine at position 134 (N134S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028934 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028934]|
|Predicted Effect||probably benign
AA Change: N134S
PolyPhen 2 Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: N134S
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||99% (70/71)|
|MGI Phenotype||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. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes an epididymal-specific protein shown to have antimicrobial activity against E. coli. Alternative splicing yields two variants encoding distinct isoforms. [provided by RefSeq, Sep 2014]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cst11||
(F):5'- TTGGAACTCCTAGTAGACCTCC -3'
(R):5'- AGCCTCAGGTTTGATGTTCTC -3'
(F):5'- AACTCCTAGTAGACCTCCACATTTTC -3'
(R):5'- ACGAGTCTAACTATGGAGCCCATTTC -3'