Incidental Mutation 'R9406:Cstb'
ID 711542
Institutional Source Beutler Lab
Gene Symbol Cstb
Ensembl Gene ENSMUSG00000005054
Gene Name cystatin B
Synonyms Stfb
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9406 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 78261504-78263456 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 78263173 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 66 (H66R)
Ref Sequence ENSEMBL: ENSMUSP00000005185 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005185]
AlphaFold Q62426
Predicted Effect probably benign
Transcript: ENSMUST00000005185
AA Change: H66R

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000005185
Gene: ENSMUSG00000005054
AA Change: H66R

DomainStartEndE-ValueType
CY 1 98 2.04e-16 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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 kininogens. This gene encodes a stefin that functions as an intracellular thiol protease inhibitor. The protein is able to form a dimer stabilized by noncovalent forces, inhibiting papain and cathepsins l, h and b. The protein is thought to play a role in protecting against the proteases leaking from lysosomes. Evidence indicates that mutations in this gene are responsible for the primary defects in patients with progressive myoclonic epilepsy (EPM1). One type of mutation responsible for EPM1 is the expansion in the promoter region of this gene of a CCCCGCCCCGCG repeat from 2-3 copies to 30-78 copies. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a null mutation provide a model for Unverricht-Lundborg disease (EPM1) by displaying progressive ataxia and myoclonic seizures. Notably, homozygous null mice exhibit apoptosis in cerebellar granule cells, implying that a similar mechanism of cell loss may occur in human EPM1. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik A G 17: 35,879,487 (GRCm39) Y275C possibly damaging Het
4932414N04Rik A G 2: 68,498,019 (GRCm39) K150R unknown Het
Aatf ACACACACACACACACACACACACACACACACACACACACACACACAC ACACACACACACACACACACACACACACACACACACACACACACACACAC 11: 84,361,866 (GRCm39) probably null Het
Ank3 C A 10: 69,645,011 (GRCm39) T92K unknown Het
Armh4 C T 14: 50,010,945 (GRCm39) G254E possibly damaging Het
Cdca2 T C 14: 67,937,772 (GRCm39) S294G unknown Het
Cerk A G 15: 86,028,787 (GRCm39) I423T possibly damaging Het
Cfap74 A T 4: 155,510,626 (GRCm39) K404* probably null Het
Cftr T C 6: 18,299,866 (GRCm39) V1213A probably benign Het
Chst11 A G 10: 83,026,881 (GRCm39) T103A possibly damaging Het
Col22a1 A G 15: 71,845,541 (GRCm39) I407T probably damaging Het
Cpn2 A G 16: 30,078,360 (GRCm39) V447A probably benign Het
Crybg3 T C 16: 59,378,839 (GRCm39) E805G probably benign Het
Cyp2g1 T C 7: 26,518,910 (GRCm39) probably null Het
Fkbp1b G T 12: 4,883,732 (GRCm39) H88N probably benign Het
Gm4884 A T 7: 40,692,565 (GRCm39) D178V probably damaging Het
Grik5 T C 7: 24,757,969 (GRCm39) T371A probably benign Het
Hydin G A 8: 111,314,412 (GRCm39) G4299S probably null Het
Ibtk A T 9: 85,603,393 (GRCm39) Y537* probably null Het
Ighv8-9 A G 12: 115,432,257 (GRCm39) L18P probably damaging Het
Lbp G T 2: 158,159,477 (GRCm39) K203N probably benign Het
Lilra6 C T 7: 3,917,853 (GRCm39) R97Q probably benign Het
Man1c1 A G 4: 134,303,318 (GRCm39) I392T probably damaging Het
Mcf2l A T 8: 13,059,676 (GRCm39) H727L probably damaging Het
Med7 T A 11: 46,331,865 (GRCm39) F153L probably benign Het
Neurl1b G C 17: 26,657,820 (GRCm39) V253L probably benign Het
Noc2l T C 4: 156,320,511 (GRCm39) S4P probably benign Het
Obscn A C 11: 58,947,805 (GRCm39) F4408C Het
Or1j17 A G 2: 36,578,296 (GRCm39) Y94C possibly damaging Het
Or4f62 A G 2: 111,986,643 (GRCm39) I116V probably benign Het
Orc2 T C 1: 58,506,842 (GRCm39) Q498R probably damaging Het
Oxsm A C 14: 16,242,531 (GRCm38) D79E probably benign Het
Pask G A 1: 93,251,987 (GRCm39) T464I probably benign Het
Pcdha8 A G 18: 37,126,922 (GRCm39) N468S probably damaging Het
Pcm1 T A 8: 41,728,722 (GRCm39) V565E probably damaging Het
Pcsk5 T C 19: 17,771,097 (GRCm39) I67V probably benign Het
Pde4d A G 13: 109,877,064 (GRCm39) D139G probably damaging Het
Pdzd8 C T 19: 59,333,245 (GRCm39) E259K Het
Phactr3 T C 2: 177,925,856 (GRCm39) L377P probably damaging Het
Ppargc1b G A 18: 61,444,051 (GRCm39) P387S possibly damaging Het
Prmt7 T G 8: 106,970,435 (GRCm39) V426G probably damaging Het
Rab39 G C 9: 53,597,915 (GRCm39) P117A probably damaging Het
Rab40b G A 11: 121,254,352 (GRCm39) R62* probably null Het
Rpf1 T G 3: 146,213,937 (GRCm39) H220P probably damaging Het
Rps6kl1 A G 12: 85,186,280 (GRCm39) I276T probably benign Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,118 (GRCm39) probably benign Het
Sbf2 T C 7: 110,040,702 (GRCm39) Q375R possibly damaging Het
Sestd1 G A 2: 77,075,421 (GRCm39) probably benign Het
Slc38a6 T A 12: 73,376,767 (GRCm39) Y140* probably null Het
Smpd1 C A 7: 105,203,750 (GRCm39) H4Q possibly damaging Het
Sox8 A T 17: 25,786,634 (GRCm39) S356R probably damaging Het
Tapbpl A G 6: 125,205,319 (GRCm39) L209P probably damaging Het
Txndc11 A G 16: 10,893,498 (GRCm39) L744P probably benign Het
Ush2a C T 1: 187,995,646 (GRCm39) P139L probably benign Het
Vmn1r54 A T 6: 90,246,092 (GRCm39) N2I probably damaging Het
Vmn2r112 C T 17: 22,824,223 (GRCm39) Q493* probably null Het
Vps16 T C 2: 130,283,425 (GRCm39) probably null Het
Zfp40 A T 17: 23,396,129 (GRCm39) S153T possibly damaging Het
Zfp523 G A 17: 28,416,840 (GRCm39) A109T probably benign Het
Zfp78 A T 7: 6,382,182 (GRCm39) N411Y probably benign Het
Other mutations in Cstb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01079:Cstb APN 10 78,262,779 (GRCm39) missense probably benign 0.03
R0020:Cstb UTSW 10 78,263,170 (GRCm39) missense probably benign 0.07
R0020:Cstb UTSW 10 78,263,170 (GRCm39) missense probably benign 0.07
R1867:Cstb UTSW 10 78,263,273 (GRCm39) makesense probably null
R3833:Cstb UTSW 10 78,263,184 (GRCm39) missense probably benign 0.13
R7378:Cstb UTSW 10 78,262,822 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGCAGAGAACCCCTTAAGG -3'
(R):5'- AGAAGCTGCTCAACTCCCTTC -3'

Sequencing Primer
(F):5'- TTAGGGTTCCCGGCCTTAAAG -3'
(R):5'- TTCTCTCCATCACCGAGGGG -3'
Posted On 2022-05-16