Incidental Mutation 'IGL00786:Cst3'
ID 13391
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cst3
Ensembl Gene ENSMUSG00000027447
Gene Name cystatin C
Synonyms CysC
Accession Numbers
Essential gene? Probably non essential (E-score: 0.154) question?
Stock # IGL00786
Quality Score
Status
Chromosome 2
Chromosomal Location 148713642-148717432 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 148714797 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 93 (C93*)
Ref Sequence ENSEMBL: ENSMUSP00000117672 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028938] [ENSMUST00000144845]
AlphaFold P21460
Predicted Effect probably null
Transcript: ENSMUST00000028938
AA Change: C93*
SMART Domains Protein: ENSMUSP00000028938
Gene: ENSMUSG00000027447
AA Change: C93*

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
CY 28 138 8.44e-41 SMART
Predicted Effect probably null
Transcript: ENSMUST00000144845
AA Change: C93*
SMART Domains Protein: ENSMUSP00000117672
Gene: ENSMUSG00000027447
AA Change: C93*

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
CY 28 102 5.39e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149691
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is a cysteine protease inhibitor involved in neurodegenerative and cardiovascular processes. The encoded protein inhibits aggregation of beta-amyloid protein, a hallmark of Alzheimer's disease, so it may be useful as a therapeutic. This protein also may be a biomarker for atherosclerosis. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit increased metastatic potential and decreased susceptibility to ischemic brain injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik T C 2: 35,265,851 (GRCm39) N242S probably benign Het
Akap9 C A 5: 4,120,522 (GRCm39) A3646E probably damaging Het
Akt1 C A 12: 112,624,105 (GRCm39) G233V probably damaging Het
B3gat3 A G 19: 8,904,149 (GRCm39) E320G probably benign Het
Bltp3a T A 17: 28,098,266 (GRCm39) I136N probably damaging Het
Bpifa5 G A 2: 154,009,172 (GRCm39) C238Y probably damaging Het
Camkmt T C 17: 85,403,919 (GRCm39) V47A probably damaging Het
Ccnl2 C T 4: 155,905,337 (GRCm39) R284W probably damaging Het
Chl1 G T 6: 103,652,106 (GRCm39) V341F probably damaging Het
Ctsh T C 9: 89,946,291 (GRCm39) V119A probably damaging Het
Dmap1 C T 4: 117,533,593 (GRCm39) R225Q possibly damaging Het
Ehbp1 A G 11: 22,050,460 (GRCm39) S479P possibly damaging Het
Eml2 A G 7: 18,936,507 (GRCm39) Y528C probably damaging Het
Faim G A 9: 98,874,218 (GRCm39) G15R probably damaging Het
G6pc3 A G 11: 102,083,931 (GRCm39) M186V probably benign Het
Gpr37 A G 6: 25,669,317 (GRCm39) V509A possibly damaging Het
Heatr5b G T 17: 79,132,063 (GRCm39) H347N possibly damaging Het
Idh1 A G 1: 65,205,402 (GRCm39) S188P probably damaging Het
Mphosph8 T C 14: 56,910,001 (GRCm39) V118A probably benign Het
Mthfsd C T 8: 121,831,207 (GRCm39) R91Q probably damaging Het
Otor G A 2: 142,921,846 (GRCm39) V86I probably damaging Het
Pdk2 T A 11: 94,922,761 (GRCm39) T140S probably benign Het
Pnliprp2 A G 19: 58,748,929 (GRCm39) N78S probably benign Het
Rimbp3 C T 16: 17,029,552 (GRCm39) T992M probably damaging Het
Sdad1 A T 5: 92,451,632 (GRCm39) probably null Het
Sidt2 A G 9: 45,861,101 (GRCm39) S71P possibly damaging Het
Slc44a2 T A 9: 21,257,231 (GRCm39) V390E probably damaging Het
Tmem168 T C 6: 13,602,674 (GRCm39) I231V probably benign Het
Vim T C 2: 13,583,321 (GRCm39) probably null Het
Other mutations in Cst3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02502:Cst3 APN 2 148,717,065 (GRCm39) splice site probably benign
R0255:Cst3 UTSW 2 148,717,089 (GRCm39) missense probably damaging 1.00
R3054:Cst3 UTSW 2 148,713,951 (GRCm39) missense probably damaging 1.00
R5978:Cst3 UTSW 2 148,714,742 (GRCm39) missense probably benign 0.00
R5978:Cst3 UTSW 2 148,714,741 (GRCm39) missense probably benign 0.00
R6426:Cst3 UTSW 2 148,713,917 (GRCm39) missense probably benign 0.00
R7885:Cst3 UTSW 2 148,714,741 (GRCm39) missense probably benign 0.08
Posted On 2012-12-06