Incidental Mutation 'R7140:Cst11'
ID 553382
Institutional Source Beutler Lab
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: 0.066) question?
Stock # R7140 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 148610538-148613417 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 148610649 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 134 (N134S)
Ref Sequence ENSEMBL: ENSMUSP00000028934 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028934]
AlphaFold Q9D269
Predicted Effect probably benign
Transcript: ENSMUST00000028934
AA Change: N134S

PolyPhen 2 Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000028934
Gene: ENSMUSG00000036958
AA Change: N134S

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
CY 32 136 2.24e-13 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 99% (70/71)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra2 T C 8: 27,610,929 (GRCm39) probably null Het
Ap2a2 G A 7: 141,178,777 (GRCm39) A148T probably benign Het
Arhgef3 A T 14: 27,123,664 (GRCm39) N442Y probably damaging Het
B3gat3 A G 19: 8,903,216 (GRCm39) Y191C probably damaging Het
B430306N03Rik A T 17: 48,629,483 (GRCm39) K203* probably null Het
C1qtnf6 T A 15: 78,409,283 (GRCm39) Y188F probably benign Het
Capn10 T C 1: 92,872,993 (GRCm39) V573A possibly damaging Het
Cbx4 T C 11: 118,972,754 (GRCm39) Y207C probably damaging Het
Ccdc43 G T 11: 102,579,695 (GRCm39) probably null Het
Ccng2 C A 5: 93,416,614 (GRCm39) P45Q probably benign Het
Cd86 T C 16: 36,441,263 (GRCm39) H68R probably benign Het
Cmtm4 A G 8: 105,081,827 (GRCm39) Y187H probably damaging Het
Cyp3a25 A T 5: 145,939,855 (GRCm39) F51I probably benign Het
Dnhd1 A G 7: 105,342,973 (GRCm39) E1439G probably benign Het
Dock4 T C 12: 40,686,158 (GRCm39) V131A probably benign Het
Dpysl2 A G 14: 67,099,982 (GRCm39) S85P probably benign Het
Dync1i2 A G 2: 71,078,283 (GRCm39) H324R probably benign Het
Elf1 A G 14: 79,804,710 (GRCm39) D162G probably benign Het
Eri3 G A 4: 117,506,604 (GRCm39) probably null Het
Fbxl21 T C 13: 56,680,145 (GRCm39) S203P probably damaging Het
Foxi1 G A 11: 34,155,758 (GRCm39) R291C probably damaging Het
Gprin3 C T 6: 59,332,128 (GRCm39) A60T possibly damaging Het
Hecw1 A G 13: 14,491,118 (GRCm39) C212R probably benign Het
Hivep3 T C 4: 119,954,318 (GRCm39) L878P probably damaging Het
Hs6st3 A T 14: 119,376,514 (GRCm39) N230Y probably damaging Het
Htr3b A G 9: 48,848,441 (GRCm39) V268A possibly damaging Het
Ip6k3 T C 17: 27,363,969 (GRCm39) T360A probably damaging Het
Izumo1 A G 7: 45,275,536 (GRCm39) T282A probably benign Het
Kidins220 T A 12: 25,086,623 (GRCm39) I1019N probably damaging Het
Med13l T C 5: 118,880,037 (GRCm39) V1043A probably benign Het
Mon2 C T 10: 122,871,358 (GRCm39) V420I probably benign Het
Naip6 T A 13: 100,436,708 (GRCm39) Y605F possibly damaging Het
Nek7 A G 1: 138,414,793 (GRCm39) I285T probably benign Het
Notch3 A G 17: 32,375,351 (GRCm39) V357A possibly damaging Het
Nrxn1 G A 17: 91,396,192 (GRCm39) probably benign Het
Nutm1 G A 2: 112,080,401 (GRCm39) R505C probably damaging Het
Or2w4 C T 13: 21,795,297 (GRCm39) V281M possibly damaging Het
Or4a67 G A 2: 88,598,308 (GRCm39) A117V probably damaging Het
Or5g9 T A 2: 85,551,818 (GRCm39) L23Q probably damaging Het
Or6c74 T G 10: 129,870,083 (GRCm39) M196R possibly damaging Het
Ostm1 C T 10: 42,559,268 (GRCm39) A176V probably null Het
Pabpc6 C A 17: 9,887,357 (GRCm39) S398I possibly damaging Het
Pcdhac2 C A 18: 37,277,239 (GRCm39) P73H possibly damaging Het
Pcdhga9 A G 18: 37,872,184 (GRCm39) D671G possibly damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Pigu A C 2: 155,143,160 (GRCm39) L248R possibly damaging Het
Pinx1 C A 14: 64,097,834 (GRCm39) probably null Het
Pon3 T C 6: 5,221,664 (GRCm39) N322S possibly damaging Het
Pramel23 T G 4: 143,425,002 (GRCm39) H147P probably benign Het
Rnft1 A G 11: 86,382,586 (GRCm39) I270V probably benign Het
Scgb2b11 A G 7: 31,910,006 (GRCm39) F27L probably damaging Het
Slc5a4b C T 10: 75,910,943 (GRCm39) V298I probably damaging Het
Slco1a6 T A 6: 142,048,745 (GRCm39) H345L probably benign Het
Sox1 C T 8: 12,447,405 (GRCm39) P349S possibly damaging Het
Spata31 A G 13: 65,068,913 (GRCm39) N354D probably benign Het
Speg T C 1: 75,383,414 (GRCm39) probably null Het
Stpg1 T C 4: 135,261,033 (GRCm39) I281T probably benign Het
Sult3a1 T C 10: 33,753,283 (GRCm39) L193P probably damaging Het
Tenm3 A T 8: 48,745,271 (GRCm39) C1097S probably damaging Het
Tfap2a A G 13: 40,883,523 (GRCm39) S7P probably benign Het
Tlr1 T C 5: 65,083,021 (GRCm39) I519V probably benign Het
Tmem238 A G 7: 4,792,072 (GRCm39) V157A possibly damaging Het
Tmem45b A T 9: 31,345,780 (GRCm39) probably null Het
Togaram2 A T 17: 72,021,761 (GRCm39) H742L probably benign Het
Trpc7 A T 13: 56,937,487 (GRCm39) Y656* probably null Het
Wdr35 T A 12: 9,072,785 (GRCm39) Y920N probably damaging Het
Xab2 G A 8: 3,668,117 (GRCm39) R154C possibly damaging Het
Zfp759 A T 13: 67,288,177 (GRCm39) H576L possibly damaging Het
Zfp958 G T 8: 4,678,481 (GRCm39) A169S 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
R5768:Cst11 UTSW 2 148,612,387 (GRCm39) nonsense probably null
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'- TTGGAACTCCTAGTAGACCTCC -3'
(R):5'- AGCCTCAGGTTTGATGTTCTC -3'

Sequencing Primer
(F):5'- AACTCCTAGTAGACCTCCACATTTTC -3'
(R):5'- ACGAGTCTAACTATGGAGCCCATTTC -3'
Posted On 2019-05-15