Incidental Mutation 'R5826:Cst9'
ID 450158
Institutional Source Beutler Lab
Gene Symbol Cst9
Ensembl Gene ENSMUSG00000027445
Gene Name cystatin 9
Synonyms M12, cresp, testatin
MMRRC Submission 043217-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5826 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 148677067-148680657 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 148680393 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 120 (V120I)
Ref Sequence ENSEMBL: ENSMUSP00000028935 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028935]
AlphaFold Q9Z0H6
Predicted Effect possibly damaging
Transcript: ENSMUST00000028935
AA Change: V120I

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000028935
Gene: ENSMUSG00000027445
AA Change: V120I

DomainStartEndE-ValueType
low complexity region 5 25 N/A INTRINSIC
CY 27 137 2.38e-2 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.7%
Validation Efficiency
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 a protein similar to mouse cystatin 9. Based on its testis-specific expression, it is likely to have a role in tissue reorganization during early testis development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes are viable and fertile with normal testes development and morphology, sperm numbers and motility, and serum levels of testosterone, luteinizing hormone, and follicle-stimulating hormone. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,632,056 (GRCm39) H4992R probably damaging Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Akr1c20 T C 13: 4,560,222 (GRCm39) E152G probably damaging Het
Ano4 T A 10: 88,788,189 (GRCm39) D877V probably damaging Het
Asb18 A C 1: 89,942,260 (GRCm39) S14A probably damaging Het
Atrnl1 T A 19: 57,618,724 (GRCm39) Y147* probably null Het
Cbfa2t2 A G 2: 154,342,375 (GRCm39) I30M possibly damaging Het
Cpd A T 11: 76,675,242 (GRCm39) L1293* probably null Het
Csmd2 T C 4: 128,412,992 (GRCm39) probably null Het
Ddah2 A G 17: 35,279,664 (GRCm39) D128G probably damaging Het
Defb11 T C 8: 22,395,510 (GRCm39) I56V probably benign Het
Dnah17 A T 11: 117,925,193 (GRCm39) L3880Q probably damaging Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Dop1a A G 9: 86,389,623 (GRCm39) T508A possibly damaging Het
Ephb2 T A 4: 136,388,048 (GRCm39) H685L probably damaging Het
Glrb T C 3: 80,752,449 (GRCm39) Y387C probably damaging Het
Gucy2e A G 11: 69,126,859 (GRCm39) S205P possibly damaging Het
Has2 T A 15: 56,531,498 (GRCm39) I406F probably damaging Het
Hcrtr2 A C 9: 76,230,569 (GRCm39) V73G probably benign Het
Hsd17b4 A T 18: 50,316,239 (GRCm39) Q622L probably benign Het
Nlrp1b A T 11: 71,072,022 (GRCm39) M607K probably benign Het
Nol6 T A 4: 41,122,158 (GRCm39) D184V probably benign Het
Noxa1 T A 2: 24,976,253 (GRCm39) Q345L probably damaging Het
Nudt6 T C 3: 37,473,617 (GRCm39) T35A probably benign Het
Phf8-ps C A 17: 33,284,288 (GRCm39) R838I possibly damaging Het
Plcg2 T C 8: 118,337,583 (GRCm39) V985A probably benign Het
Plxnc1 C T 10: 94,635,335 (GRCm39) probably null Het
Prkdc G A 16: 15,551,962 (GRCm39) R2056H probably benign Het
Ptpn4 A T 1: 119,612,246 (GRCm39) I49N probably benign Het
Ralgapa1 T G 12: 55,723,898 (GRCm39) S1543R probably damaging Het
Rnf135 A T 11: 80,089,912 (GRCm39) N416I probably damaging Het
Scn5a A G 9: 119,350,399 (GRCm39) L825P probably damaging Het
Septin11 A T 5: 93,287,309 (GRCm39) N8I possibly damaging Het
Slc13a3 T C 2: 165,250,876 (GRCm39) I456V probably benign Het
Slc16a3 A G 11: 120,847,756 (GRCm39) T315A probably benign Het
Sun1 T G 5: 139,231,171 (GRCm39) F657C probably damaging Het
Tmco3 T C 8: 13,360,314 (GRCm39) S34P probably damaging Het
Tnrc18 G A 5: 142,759,502 (GRCm39) P778L unknown Het
Ubxn4 A C 1: 128,194,058 (GRCm39) K284T possibly damaging Het
Usp37 A T 1: 74,509,785 (GRCm39) N461K probably damaging Het
Vmn2r106 A T 17: 20,499,133 (GRCm39) F259L probably benign Het
Vmn2r73 T C 7: 85,524,956 (GRCm39) D64G possibly damaging Het
Other mutations in Cst9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01796:Cst9 APN 2 148,677,269 (GRCm39) missense probably damaging 1.00
IGL02851:Cst9 APN 2 148,677,203 (GRCm39) missense probably benign 0.29
R0415:Cst9 UTSW 2 148,680,362 (GRCm39) splice site probably benign
R2973:Cst9 UTSW 2 148,677,145 (GRCm39) splice site probably null
R8183:Cst9 UTSW 2 148,678,634 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- GGGAGAGTTGCAACAAGTACTC -3'
(R):5'- GTCTTGATACTGCACAATGCTG -3'

Sequencing Primer
(F):5'- TCCATGGTGCTTCAGATCAAGACG -3'
(R):5'- TTGATACTGCACAATGCTGCAAAAC -3'
Posted On 2016-12-20