Incidental Mutation 'IGL00645:Cst5'
ID 9916
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cst5
Ensembl Gene ENSMUSG00000033156
Gene Name cystatin D
Synonyms DD72, Cst10
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # IGL00645
Quality Score
Status
Chromosome 2
Chromosomal Location 149247242-149252217 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 149251899 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 125 (C125S)
Ref Sequence ENSEMBL: ENSMUSP00000105564 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047008] [ENSMUST00000109938] [ENSMUST00000109939]
AlphaFold Q9JM84
Predicted Effect probably damaging
Transcript: ENSMUST00000047008
AA Change: C125S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043520
Gene: ENSMUSG00000033156
AA Change: C125S

DomainStartEndE-ValueType
low complexity region 11 23 N/A INTRINSIC
CY 36 146 4.13e-35 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109938
AA Change: C125S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105564
Gene: ENSMUSG00000033156
AA Change: C125S

DomainStartEndE-ValueType
low complexity region 11 23 N/A INTRINSIC
CY 36 146 4.13e-35 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000109939
AA Change: C87S

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000105565
Gene: ENSMUSG00000033156
AA Change: C87S

DomainStartEndE-ValueType
low complexity region 11 23 N/A INTRINSIC
CY 36 108 2.52e-7 SMART
Coding Region Coverage
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 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 a protein found in saliva and tears. The encoded protein may play a protective role against proteinases present in the oral cavity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display reduced chondrocyte calcification during endochondral ossification both under physiological and pathological conditions. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 10 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c21 A G 13: 4,626,312 (GRCm39) D112G probably damaging Het
Cd2 T C 3: 101,190,539 (GRCm39) N135D probably damaging Het
Coq10b A G 1: 55,100,468 (GRCm39) T51A probably benign Het
Fam135b A G 15: 71,334,395 (GRCm39) V933A probably damaging Het
Fbn1 A G 2: 125,159,023 (GRCm39) probably benign Het
Kcna10 G A 3: 107,102,781 (GRCm39) E471K possibly damaging Het
Msl1 T A 11: 98,696,247 (GRCm39) C598S probably damaging Het
Nup35 T A 2: 80,485,176 (GRCm39) F192L probably damaging Het
Sec16b T A 1: 157,394,289 (GRCm39) V1026D probably damaging Het
Serpina3f T C 12: 104,183,599 (GRCm39) F154L probably benign Het
Other mutations in Cst5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00473:Cst5 APN 2 149,247,293 (GRCm39) missense unknown
IGL00500:Cst5 APN 2 149,247,501 (GRCm39) missense probably damaging 0.98
R1596:Cst5 UTSW 2 149,247,329 (GRCm39) missense unknown
R4810:Cst5 UTSW 2 149,247,463 (GRCm39) nonsense probably null
R7468:Cst5 UTSW 2 149,247,496 (GRCm39) missense probably benign 0.30
R7469:Cst5 UTSW 2 149,247,496 (GRCm39) missense probably benign 0.30
R7471:Cst5 UTSW 2 149,247,496 (GRCm39) missense probably benign 0.30
R7472:Cst5 UTSW 2 149,247,496 (GRCm39) missense probably benign 0.30
R8224:Cst5 UTSW 2 149,251,902 (GRCm39) missense possibly damaging 0.95
R9072:Cst5 UTSW 2 149,249,261 (GRCm39) missense probably benign 0.06
Posted On 2012-12-06