Incidental Mutation 'IGL00786:Cst3'
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ID13391
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cst3
Ensembl Gene ENSMUSG00000027447
Gene Namecystatin C
SynonymsCysC
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.142) question?
Stock #IGL00786
Quality Score
Status
Chromosome2
Chromosomal Location148871722-148875692 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 148872877 bp
ZygosityHeterozygous
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]
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: 35,375,839 N242S probably benign Het
Akap9 C A 5: 4,070,522 A3646E probably damaging Het
Akt1 C A 12: 112,657,671 G233V probably damaging Het
B3gat3 A G 19: 8,926,785 E320G probably benign Het
Bpifa5 G A 2: 154,167,252 C238Y probably damaging Het
Camkmt T C 17: 85,096,491 V47A probably damaging Het
Ccnl2 C T 4: 155,820,880 R284W probably damaging Het
Chl1 G T 6: 103,675,145 V341F probably damaging Het
Ctsh T C 9: 90,064,238 V119A probably damaging Het
Dmap1 C T 4: 117,676,396 R225Q possibly damaging Het
Ehbp1 A G 11: 22,100,460 S479P possibly damaging Het
Eml2 A G 7: 19,202,582 Y528C probably damaging Het
Faim G A 9: 98,992,165 G15R probably damaging Het
G6pc3 A G 11: 102,193,105 M186V probably benign Het
Gpr37 A G 6: 25,669,318 V509A possibly damaging Het
Heatr5b G T 17: 78,824,634 H347N possibly damaging Het
Idh1 A G 1: 65,166,243 S188P probably damaging Het
Mphosph8 T C 14: 56,672,544 V118A probably benign Het
Mthfsd C T 8: 121,104,468 R91Q probably damaging Het
Otor G A 2: 143,079,926 V86I probably damaging Het
Pdk2 T A 11: 95,031,935 T140S probably benign Het
Pnliprp2 A G 19: 58,760,497 N78S probably benign Het
Rimbp3 C T 16: 17,211,688 T992M probably damaging Het
Sdad1 A T 5: 92,303,773 probably null Het
Sidt2 A G 9: 45,949,803 S71P possibly damaging Het
Slc44a2 T A 9: 21,345,935 V390E probably damaging Het
Tmem168 T C 6: 13,602,675 I231V probably benign Het
Uhrf1bp1 T A 17: 27,879,292 I136N probably damaging Het
Vim T C 2: 13,578,510 probably null Het
Other mutations in Cst3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02502:Cst3 APN 2 148875145 splice site probably benign
R0255:Cst3 UTSW 2 148875169 missense probably damaging 1.00
R3054:Cst3 UTSW 2 148872031 missense probably damaging 1.00
R5978:Cst3 UTSW 2 148872821 missense probably benign 0.00
R5978:Cst3 UTSW 2 148872822 missense probably benign 0.00
R6426:Cst3 UTSW 2 148871997 missense probably benign 0.00
R7885:Cst3 UTSW 2 148872821 missense probably benign 0.08
Posted On2012-12-06