Incidental Mutation 'IGL00500:Cst5'
ID 88896
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: 0.078) question?
Stock # IGL00500
Quality Score
Status
Chromosome 2
Chromosomal Location 149247242-149252217 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 149247501 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 72 (S72R)
Ref Sequence ENSEMBL: ENSMUSP00000105565 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047008] [ENSMUST00000109938] [ENSMUST00000109939]
AlphaFold Q9JM84
Predicted Effect probably damaging
Transcript: ENSMUST00000047008
AA Change: S72R

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000043520
Gene: ENSMUSG00000033156
AA Change: S72R

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: S72R

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105564
Gene: ENSMUSG00000033156
AA Change: S72R

DomainStartEndE-ValueType
low complexity region 11 23 N/A INTRINSIC
CY 36 146 4.13e-35 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109939
AA Change: S72R

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105565
Gene: ENSMUSG00000033156
AA Change: S72R

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm3 A G 7: 119,383,567 (GRCm39) E576G probably damaging Het
Adnp A G 2: 168,025,243 (GRCm39) V684A possibly damaging Het
Agl A G 3: 116,566,469 (GRCm39) W965R probably damaging Het
AI467606 G A 7: 126,691,505 (GRCm39) V27I probably benign Het
Ankrd34b G A 13: 92,575,295 (GRCm39) G176R probably benign Het
Atp2a1 C T 7: 126,046,388 (GRCm39) W72* probably null Het
Atp6v1a T C 16: 43,931,946 (GRCm39) Q114R probably benign Het
B4galt2 A T 4: 117,734,378 (GRCm39) L257Q probably damaging Het
Chrna10 A T 7: 101,761,615 (GRCm39) C325* probably null Het
Clip2 A G 5: 134,529,011 (GRCm39) probably benign Het
Crocc2 C T 1: 93,144,766 (GRCm39) Q1437* probably null Het
Csmd1 C T 8: 15,971,139 (GRCm39) V3059M probably damaging Het
Dapk1 A G 13: 60,908,618 (GRCm39) D1077G probably damaging Het
Dhx9 T C 1: 153,341,494 (GRCm39) T585A probably damaging Het
Fam210a G A 18: 68,408,854 (GRCm39) T152I possibly damaging Het
Fbn1 T A 2: 125,159,436 (GRCm39) Q2214L probably damaging Het
Fpr1 T A 17: 18,097,263 (GRCm39) Q242L probably benign Het
G2e3 A G 12: 51,400,581 (GRCm39) probably null Het
Gcdh C T 8: 85,615,146 (GRCm39) probably benign Het
Gm18856 T C 13: 14,140,319 (GRCm39) probably benign Het
Itgb2 T A 10: 77,400,558 (GRCm39) W724R probably damaging Het
Klhl2 T C 8: 65,202,120 (GRCm39) T519A probably benign Het
Krtap12-1 G T 10: 77,556,814 (GRCm39) C119F possibly damaging Het
Nrap T A 19: 56,361,341 (GRCm39) K369N probably damaging Het
Nrg1 T A 8: 32,312,342 (GRCm39) probably null Het
Plekhh3 T A 11: 101,056,519 (GRCm39) probably null Het
Ppm1b A G 17: 85,310,712 (GRCm39) S289G probably damaging Het
Prol1 A T 5: 88,476,550 (GRCm39) *313C probably null Het
Rab40c T C 17: 26,104,059 (GRCm39) E111G probably damaging Het
Skint11 T A 4: 114,051,906 (GRCm39) C85S probably benign Het
Slc9a2 G A 1: 40,802,743 (GRCm39) E598K possibly damaging Het
Slfn8 T A 11: 82,904,310 (GRCm39) D360V possibly damaging Het
Sspo C A 6: 48,474,355 (GRCm39) C4925* probably null Het
Vps8 A G 16: 21,261,084 (GRCm39) T75A possibly damaging Het
Wfdc12 A T 2: 164,032,170 (GRCm39) I40N probably damaging Het
Zfp608 T A 18: 55,121,405 (GRCm39) T61S probably benign Het
Other mutations in Cst5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00473:Cst5 APN 2 149,247,293 (GRCm39) missense unknown
IGL00645:Cst5 APN 2 149,251,899 (GRCm39) missense probably damaging 1.00
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 2013-12-03