Incidental Mutation 'IGL02271:Cst11'
ID 287140
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cst11
Ensembl Gene ENSMUSG00000036958
Gene Name cystatin 11
Synonyms cystatin E1, 9230101F08Rik, mCST E1, CRES2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # IGL02271
Quality Score
Status
Chromosome 2
Chromosomal Location 148610538-148613417 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 148613161 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 55 (Y55N)
Ref Sequence ENSEMBL: ENSMUSP00000028934 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028934]
AlphaFold Q9D269
Predicted Effect probably damaging
Transcript: ENSMUST00000028934
AA Change: Y55N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028934
Gene: ENSMUSG00000036958
AA Change: Y55N

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
CY 32 136 2.24e-13 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 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
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Astn1 C T 1: 158,338,520 (GRCm39) probably benign Het
Bms1 C A 6: 118,366,290 (GRCm39) V1068F probably benign Het
Cand1 A T 10: 119,047,626 (GRCm39) N621K probably damaging Het
Cd44 C T 2: 102,661,732 (GRCm39) E418K possibly damaging Het
Clip2 A T 5: 134,531,425 (GRCm39) N758K probably benign Het
Cytip A T 2: 58,023,872 (GRCm39) L316* probably null Het
Ddx52 T C 11: 83,843,057 (GRCm39) M352T probably damaging Het
Fancd2 G A 6: 113,512,720 (GRCm39) probably benign Het
Fat4 A T 3: 39,034,068 (GRCm39) E2573D probably benign Het
Fbxl13 T G 5: 21,695,454 (GRCm39) D646A probably damaging Het
Fhdc1 G A 3: 84,352,042 (GRCm39) A1061V possibly damaging Het
Grid2ip A G 5: 143,374,664 (GRCm39) D928G probably benign Het
Hmgxb3 A G 18: 61,265,285 (GRCm39) L1231P probably damaging Het
Ifitm7 A G 16: 13,801,541 (GRCm39) F73L probably damaging Het
Ikbkb T A 8: 23,155,919 (GRCm39) T583S probably benign Het
Kdm6b G A 11: 69,296,893 (GRCm39) A458V possibly damaging Het
Klra2 T C 6: 131,207,180 (GRCm39) K143R probably benign Het
Kmt2d A G 15: 98,764,309 (GRCm39) S42P possibly damaging Het
Krt78 T A 15: 101,857,028 (GRCm39) M360L probably benign Het
Lamb1 A G 12: 31,350,250 (GRCm39) N677S probably damaging Het
Lrrc9 G A 12: 72,557,155 (GRCm39) V1407I probably benign Het
Myo6 A G 9: 80,168,113 (GRCm39) T426A probably benign Het
Net1 T C 13: 3,937,663 (GRCm39) Y146C probably damaging Het
Nlrp4d T A 7: 10,122,625 (GRCm39) noncoding transcript Het
Notch4 A T 17: 34,787,445 (GRCm39) N335I probably damaging Het
Or14j6 A T 17: 38,215,134 (GRCm39) E232D probably benign Het
Or5ac20 A T 16: 59,104,584 (GRCm39) I92K probably damaging Het
Or8b53 A T 9: 38,667,784 (GRCm39) T267S probably benign Het
Pax3 A T 1: 78,171,969 (GRCm39) H80Q probably damaging Het
Pclo A T 5: 14,729,508 (GRCm39) probably benign Het
Pdgfra A G 5: 75,348,567 (GRCm39) D869G probably damaging Het
Per2 T C 1: 91,373,332 (GRCm39) Y152C probably damaging Het
Pilrb2 T C 5: 137,865,125 (GRCm39) D223G probably benign Het
Rag1 T A 2: 101,473,733 (GRCm39) I470F probably damaging Het
Rap1gap T C 4: 137,445,317 (GRCm39) S333P probably damaging Het
Rundc3b A G 5: 8,542,530 (GRCm39) Y430H probably damaging Het
Ryr1 T C 7: 28,793,472 (GRCm39) D1332G probably benign Het
Sgo1 G A 17: 53,986,567 (GRCm39) A208V possibly damaging Het
Skint5 C T 4: 113,794,778 (GRCm39) probably null Het
Slc26a4 C T 12: 31,578,853 (GRCm39) probably benign Het
Slc28a3 A T 13: 58,706,451 (GRCm39) S597T probably benign Het
Slc4a5 T A 6: 83,248,085 (GRCm39) probably benign Het
Slc52a3 A G 2: 151,847,448 (GRCm39) probably benign Het
Stac3 A G 10: 127,339,768 (GRCm39) D158G probably benign Het
Tdo2 T C 3: 81,871,224 (GRCm39) probably benign Het
Usp25 A T 16: 76,912,335 (GRCm39) E1018V probably damaging Het
Vmn1r46 T A 6: 89,953,886 (GRCm39) F245Y probably damaging Het
Other mutations in Cst11
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0020:Cst11 UTSW 2 148,613,253 (GRCm39) missense probably damaging 0.97
R0020:Cst11 UTSW 2 148,613,253 (GRCm39) missense probably damaging 0.97
R0060:Cst11 UTSW 2 148,612,322 (GRCm39) missense probably damaging 1.00
R0988:Cst11 UTSW 2 148,612,346 (GRCm39) missense probably benign 0.26
R2102:Cst11 UTSW 2 148,613,160 (GRCm39) missense probably damaging 1.00
R4042:Cst11 UTSW 2 148,613,200 (GRCm39) missense probably benign 0.00
R5008:Cst11 UTSW 2 148,612,325 (GRCm39) missense probably benign 0.24
R5768:Cst11 UTSW 2 148,612,387 (GRCm39) nonsense probably null
R7140:Cst11 UTSW 2 148,610,649 (GRCm39) missense probably benign 0.36
R7841:Cst11 UTSW 2 148,613,227 (GRCm39) missense possibly damaging 0.93
X0024:Cst11 UTSW 2 148,612,380 (GRCm39) missense probably benign 0.30
Posted On 2015-04-16