Incidental Mutation 'R5768:Cst11'
ID 446369
Institutional Source Beutler Lab
Gene Symbol Cst11
Ensembl Gene ENSMUSG00000036958
Gene Name cystatin 11
Synonyms cystatin E1, 9230101F08Rik, mCST E1, CRES2
MMRRC Submission 043368-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R5768 (G1)
Quality Score 214
Status Validated
Chromosome 2
Chromosomal Location 148610538-148613417 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 148612387 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 83 (Y83*)
Ref Sequence ENSEMBL: ENSMUSP00000028934 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028934]
AlphaFold Q9D269
Predicted Effect probably null
Transcript: ENSMUST00000028934
AA Change: Y83*
SMART Domains Protein: ENSMUSP00000028934
Gene: ENSMUSG00000036958
AA Change: Y83*

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
CY 32 136 2.24e-13 SMART
Meta Mutation Damage Score 0.9636 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 98% (59/60)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 G A 5: 8,177,426 (GRCm39) T561I probably benign Het
Akp3 T C 1: 87,054,844 (GRCm39) I393T probably damaging Het
Atxn10 A T 15: 85,277,621 (GRCm39) I363F probably benign Het
BC004004 A T 17: 29,501,709 (GRCm39) S83C probably damaging Het
Bin1 T A 18: 32,559,264 (GRCm39) probably null Het
Cacna1c A G 6: 118,674,641 (GRCm39) I541T probably damaging Het
Cand1 A G 10: 119,046,910 (GRCm39) V860A probably benign Het
Ccdc69 T C 11: 54,945,856 (GRCm39) N50S possibly damaging Het
Cd209d T A 8: 3,921,968 (GRCm39) T235S probably benign Het
Cdhr3 G T 12: 33,096,685 (GRCm39) T591K possibly damaging Het
Cherp C T 8: 73,216,957 (GRCm39) D658N probably damaging Het
Clip4 T A 17: 72,113,494 (GRCm39) probably null Het
Cryzl1 C T 16: 91,492,242 (GRCm39) V195M probably damaging Het
Ddb2 T C 2: 91,042,337 (GRCm39) S419G possibly damaging Het
Ddi2 A T 4: 141,412,901 (GRCm39) L4M probably damaging Het
Dip2b C A 15: 100,055,826 (GRCm39) P393T probably benign Het
Dnmt3a G A 12: 3,935,660 (GRCm39) probably null Het
Elf5 C T 2: 103,279,367 (GRCm39) S196L probably damaging Het
Eps15 C G 4: 109,220,373 (GRCm39) probably null Het
Fra10ac1 T C 19: 38,195,734 (GRCm39) E163G probably benign Het
Gc T C 5: 89,589,125 (GRCm39) T213A probably damaging Het
Grpel1 A T 5: 36,622,503 (GRCm39) probably benign Het
Gsdme G A 6: 50,196,280 (GRCm39) Q377* probably null Het
Hira T C 16: 18,753,768 (GRCm39) probably benign Het
Hsd11b1 T A 1: 192,922,554 (GRCm39) I168F probably damaging Het
Htr6 G A 4: 138,789,015 (GRCm39) R347W probably damaging Het
Ipp A C 4: 116,367,967 (GRCm39) T67P probably damaging Het
Lrfn5 G A 12: 61,886,509 (GRCm39) R99Q probably benign Het
Madd T A 2: 90,998,174 (GRCm39) I649F probably damaging Het
Map2k7 T A 8: 4,295,757 (GRCm39) D368E probably benign Het
Mppe1 T G 18: 67,358,889 (GRCm39) T360P possibly damaging Het
Msi2 A G 11: 88,608,564 (GRCm39) F2L probably damaging Het
Nectin3 T C 16: 46,279,180 (GRCm39) Q266R probably damaging Het
Nfasc T C 1: 132,532,883 (GRCm39) H691R probably benign Het
Oprm1 G A 10: 6,739,026 (GRCm39) G51D probably damaging Het
Or4c117 T C 2: 88,955,793 (GRCm39) E94G probably benign Het
Or5ac15 TGAAGAAGAA TGAAGAA 16: 58,940,335 (GRCm39) probably benign Het
Papss2 G A 19: 32,638,119 (GRCm39) probably null Het
Pi4ka T C 16: 17,172,736 (GRCm39) K549E probably benign Het
Plekha6 A G 1: 133,208,116 (GRCm39) T596A probably benign Het
Polr2f A G 15: 79,035,845 (GRCm39) D117G probably damaging Het
Psd T C 19: 46,301,178 (GRCm39) E381G possibly damaging Het
Rfx6 G A 10: 51,602,976 (GRCm39) R831H probably damaging Het
Rpp25l A T 4: 41,712,649 (GRCm39) L42Q probably damaging Het
Ryr3 T C 2: 112,583,442 (GRCm39) M2810V probably benign Het
Sdk1 C A 5: 142,129,626 (GRCm39) L1616I probably benign Het
Spock2 T A 10: 59,962,029 (GRCm39) F215I probably damaging Het
Susd2 C T 10: 75,473,853 (GRCm39) A581T probably damaging Het
Tchh A T 3: 93,353,488 (GRCm39) E976V unknown Het
Tgfbr3 T C 5: 107,297,761 (GRCm39) E213G probably benign Het
Tmed1 T C 9: 21,420,619 (GRCm39) D71G probably benign Het
Tmtc4 T A 14: 123,170,565 (GRCm39) K527N possibly damaging Het
Zfhx2 T C 14: 55,311,822 (GRCm39) T291A probably benign Het
Other mutations in Cst11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02271:Cst11 APN 2 148,613,161 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GTAGATCCCAAGCAGGTCTG -3'
(R):5'- CAATGCTGTCCAGGGGATTC -3'

Sequencing Primer
(F):5'- GTAGATCCCAAGCAGGTCTGTCTTC -3'
(R):5'- ACTCTTGGTGATATCTCAAAGGG -3'
Posted On 2016-11-21