Incidental Mutation 'R0060:Cst11'
ID 64389
Institutional Source Beutler Lab
Gene Symbol Cst11
Ensembl Gene ENSMUSG00000036958
Gene Name cystatin 11
Synonyms cystatin E1, 9230101F08Rik, mCST E1, CRES2
MMRRC Submission 038353-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R0060 (G1)
Quality Score 114
Status Validated
Chromosome 2
Chromosomal Location 148610538-148613417 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 148612322 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 105 (Q105L)
Ref Sequence ENSEMBL: ENSMUSP00000028934 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028934]
AlphaFold Q9D269
Predicted Effect probably damaging
Transcript: ENSMUST00000028934
AA Change: Q105L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028934
Gene: ENSMUSG00000036958
AA Change: Q105L

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
CY 32 136 2.24e-13 SMART
Meta Mutation Damage Score 0.7226 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.0%
Validation Efficiency 98% (60/61)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810065E05Rik A C 11: 58,313,008 (GRCm39) probably benign Het
A630091E08Rik A G 7: 98,192,875 (GRCm39) noncoding transcript Het
Abca8a T C 11: 109,961,306 (GRCm39) T539A probably damaging Het
Ankrd60 A T 2: 173,414,406 (GRCm39) M1K probably null Het
Arnt2 G A 7: 83,996,738 (GRCm39) R63C probably damaging Het
Cabcoco1 A T 10: 68,369,692 (GRCm39) probably null Het
Capn7 T C 14: 31,087,561 (GRCm39) probably benign Het
Cd109 G A 9: 78,610,389 (GRCm39) E1145K probably damaging Het
Celsr1 A T 15: 85,806,399 (GRCm39) V2353D probably damaging Het
Cep350 C T 1: 155,804,372 (GRCm39) D904N probably damaging Het
Chl1 T A 6: 103,688,019 (GRCm39) probably benign Het
Colec10 G A 15: 54,302,542 (GRCm39) probably benign Het
Eps8l3 T C 3: 107,786,857 (GRCm39) L11S probably damaging Het
Gsdme A G 6: 50,198,009 (GRCm39) I317T possibly damaging Het
Itgad T C 7: 127,802,158 (GRCm39) S979P probably damaging Het
Mga T C 2: 119,791,442 (GRCm39) probably null Het
Nubpl T C 12: 52,357,470 (GRCm39) probably benign Het
Or2b4 T C 17: 38,116,891 (GRCm39) L285P probably damaging Het
Or5be3 T C 2: 86,864,118 (GRCm39) Y149C probably damaging Het
Pard3b G A 1: 61,678,474 (GRCm39) E25K probably damaging Het
Phactr1 T A 13: 42,836,197 (GRCm39) Y8* probably null Het
Phf14 T C 6: 11,953,316 (GRCm39) S352P probably damaging Het
Ppp1r16a C T 15: 76,574,999 (GRCm39) probably benign Het
Prap1 G T 7: 139,673,390 (GRCm39) probably benign Het
Prdm8 T A 5: 98,333,119 (GRCm39) F229I probably benign Het
Rfx6 T C 10: 51,553,936 (GRCm39) F11L probably benign Het
Rfx8 T A 1: 39,757,565 (GRCm39) probably benign Het
Rif1 C T 2: 52,001,129 (GRCm39) R1528C probably damaging Het
Ripk4 G A 16: 97,564,718 (GRCm39) probably benign Het
Satb1 T A 17: 52,047,231 (GRCm39) I695F probably damaging Het
Sema4d A G 13: 51,859,293 (GRCm39) probably benign Het
Slc30a4 T A 2: 122,527,104 (GRCm39) T381S probably benign Het
Suv39h2 T C 2: 3,465,953 (GRCm39) Y134C probably damaging Het
Tcerg1 C T 18: 42,657,073 (GRCm39) A185V unknown Het
Tep1 T A 14: 51,103,486 (GRCm39) D268V probably damaging Het
Tmem89 T A 9: 108,744,485 (GRCm39) V126D probably damaging Het
Trf T C 9: 103,098,121 (GRCm39) T46A probably benign Het
Trmt6 C T 2: 132,648,689 (GRCm39) R415Q possibly damaging Het
Trp53bp1 T C 2: 121,035,006 (GRCm39) K1625E probably damaging Het
Zcchc4 T A 5: 52,964,420 (GRCm39) I292N possibly damaging 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
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
Predicted Primers PCR Primer
(F):5'- TGGACCCACTCTGACTATGCTCAC -3'
(R):5'- AGCTGTCCTGCCCATATAGAAGCC -3'

Sequencing Primer
(F):5'- ACTATGCTCACAGATGTGGC -3'
(R):5'- TGCCCATATAGAAGCCAGAAAG -3'
Posted On 2013-08-06