Incidental Mutation 'IGL02851:Cst9'
ID 361872
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cst9
Ensembl Gene ENSMUSG00000027445
Gene Name cystatin 9
Synonyms M12, cresp, testatin
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02851
Quality Score
Status
Chromosome 2
Chromosomal Location 148677067-148680657 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 148677203 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 25 (I25V)
Ref Sequence ENSEMBL: ENSMUSP00000028935 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028935] [ENSMUST00000046589]
AlphaFold Q9Z0H6
Predicted Effect probably benign
Transcript: ENSMUST00000028935
AA Change: I25V

PolyPhen 2 Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000028935
Gene: ENSMUSG00000027445
AA Change: I25V

DomainStartEndE-ValueType
low complexity region 5 25 N/A INTRINSIC
CY 27 137 2.38e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000046589
SMART Domains Protein: ENSMUSP00000036005
Gene: ENSMUSG00000036924

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
CY 29 139 2.2e-18 SMART
Coding Region Coverage
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt1 T C 12: 112,623,518 (GRCm39) E314G probably damaging Het
Amtn C A 5: 88,529,481 (GRCm39) Q106K probably benign Het
Birc6 T C 17: 74,916,184 (GRCm39) F1700S probably damaging Het
Brdt T C 5: 107,525,861 (GRCm39) S905P possibly damaging Het
Ccdc68 C T 18: 70,080,236 (GRCm39) Q194* probably null Het
Cdc27 A G 11: 104,417,807 (GRCm39) probably benign Het
Cdh13 A G 8: 119,401,897 (GRCm39) T100A probably benign Het
Cdsn A G 17: 35,866,791 (GRCm39) H440R possibly damaging Het
Cenpf C A 1: 189,390,227 (GRCm39) D1202Y probably damaging Het
Chat C A 14: 32,180,570 (GRCm39) V21L probably benign Het
Clca4c-ps T A 3: 144,585,493 (GRCm39) noncoding transcript Het
Dennd1b C A 1: 139,096,705 (GRCm39) probably benign Het
Dnah9 A G 11: 65,928,570 (GRCm39) probably benign Het
Dpp3 T G 19: 4,973,159 (GRCm39) Q145P probably benign Het
Elovl5 C T 9: 77,888,784 (GRCm39) T217M probably damaging Het
Etl4 T C 2: 20,812,840 (GRCm39) V906A possibly damaging Het
Gm10647 C T 9: 66,705,543 (GRCm39) probably benign Het
Grm5 A G 7: 87,723,918 (GRCm39) N736S probably damaging Het
Hectd1 A G 12: 51,814,423 (GRCm39) S1638P possibly damaging Het
Hsd3b2 T G 3: 98,623,740 (GRCm39) E46A possibly damaging Het
Igkv15-103 A G 6: 68,414,674 (GRCm39) T38A probably benign Het
Itpr2 C A 6: 146,287,477 (GRCm39) V450L probably damaging Het
Kbtbd12 T C 6: 88,595,311 (GRCm39) H173R probably benign Het
Man1a G A 10: 53,795,340 (GRCm39) R638W probably damaging Het
Mterf2 A T 10: 84,955,878 (GRCm39) S249T probably damaging Het
Muc6 T C 7: 141,234,627 (GRCm39) D700G probably damaging Het
Myh13 A G 11: 67,239,742 (GRCm39) H764R possibly damaging Het
Myh7b A G 2: 155,470,747 (GRCm39) D1065G probably damaging Het
Naip1 C A 13: 100,569,770 (GRCm39) W288L probably damaging Het
Naip6 C A 13: 100,437,168 (GRCm39) A452S probably benign Het
Nop2 A C 6: 125,121,048 (GRCm39) K610T possibly damaging Het
Nop2 G T 6: 125,121,033 (GRCm39) G605V probably benign Het
Npvf G A 6: 50,629,670 (GRCm39) R107W probably benign Het
Or10h28 T A 17: 33,488,328 (GRCm39) I210K probably benign Het
Or2h2 T C 17: 37,397,048 (GRCm39) probably null Het
Os9 G A 10: 126,935,262 (GRCm39) probably benign Het
Parp4 T C 14: 56,886,326 (GRCm39) S1802P unknown Het
Piezo2 G A 18: 63,153,704 (GRCm39) S2547F probably benign Het
Plekha7 G T 7: 115,734,413 (GRCm39) A1024E probably damaging Het
R3hdm1 T C 1: 128,102,677 (GRCm39) probably benign Het
Robo4 T C 9: 37,324,678 (GRCm39) S1022P probably damaging Het
Sc5d T C 9: 42,166,690 (GRCm39) N283S probably benign Het
Scn10a C T 9: 119,500,674 (GRCm39) V202M probably damaging Het
Slco1a8 C T 6: 141,949,197 (GRCm39) G60R probably damaging Het
Spag16 T C 1: 70,304,067 (GRCm39) I366T possibly damaging Het
Sptbn4 G A 7: 27,126,258 (GRCm39) R222C possibly damaging Het
Tlr9 C T 9: 106,101,929 (GRCm39) Q407* probably null Het
Trappc12 G A 12: 28,741,405 (GRCm39) S768L probably damaging Het
Vmn2r44 A T 7: 8,386,050 (GRCm39) L63Q probably damaging Het
Zfy2 C T Y: 2,106,894 (GRCm39) G580D probably benign Het
Zfy2 T A Y: 2,117,188 (GRCm39) H213L probably benign Het
Other mutations in Cst9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01796:Cst9 APN 2 148,677,269 (GRCm39) missense probably damaging 1.00
R0415:Cst9 UTSW 2 148,680,362 (GRCm39) splice site probably benign
R2973:Cst9 UTSW 2 148,677,145 (GRCm39) splice site probably null
R5826:Cst9 UTSW 2 148,680,393 (GRCm39) missense possibly damaging 0.75
R8183:Cst9 UTSW 2 148,678,634 (GRCm39) missense possibly damaging 0.82
Posted On 2015-12-18