Incidental Mutation 'IGL00473:Cst5'
ID 7003
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 # IGL00473
Quality Score
Status
Chromosome 2
Chromosomal Location 149247242-149252217 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 149247293 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Isoleucine at position 3 (S3I)
Ref Sequence ENSEMBL: ENSMUSP00000105565 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047008] [ENSMUST00000109938] [ENSMUST00000109939]
AlphaFold Q9JM84
Predicted Effect unknown
Transcript: ENSMUST00000047008
AA Change: S3I
SMART Domains Protein: ENSMUSP00000043520
Gene: ENSMUSG00000033156
AA Change: S3I

DomainStartEndE-ValueType
low complexity region 11 23 N/A INTRINSIC
CY 36 146 4.13e-35 SMART
Predicted Effect unknown
Transcript: ENSMUST00000109938
AA Change: S3I
SMART Domains Protein: ENSMUSP00000105564
Gene: ENSMUSG00000033156
AA Change: S3I

DomainStartEndE-ValueType
low complexity region 11 23 N/A INTRINSIC
CY 36 146 4.13e-35 SMART
Predicted Effect unknown
Transcript: ENSMUST00000109939
AA Change: S3I
SMART Domains Protein: ENSMUSP00000105565
Gene: ENSMUSG00000033156
AA Change: S3I

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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arcn1 A G 9: 44,668,444 (GRCm39) V264A probably benign Het
Asap1 T C 15: 64,045,064 (GRCm39) probably benign Het
Brpf1 A C 6: 113,293,645 (GRCm39) Q571H probably damaging Het
C9orf72 C T 4: 35,213,616 (GRCm39) G178E possibly damaging Het
Creb3 G T 4: 43,565,517 (GRCm39) R232L probably benign Het
Cyp4a14 A G 4: 115,347,149 (GRCm39) probably benign Het
Daxx C T 17: 34,130,581 (GRCm39) Q199* probably null Het
Eml5 A G 12: 98,771,751 (GRCm39) probably benign Het
Gbp6 T A 5: 105,422,145 (GRCm39) K520* probably null Het
Gcfc2 T A 6: 81,921,355 (GRCm39) C454S probably damaging Het
Gm9894 T A 13: 67,913,236 (GRCm39) noncoding transcript Het
Gpr15 C T 16: 58,538,441 (GRCm39) C216Y probably damaging Het
Gzmn T C 14: 56,404,436 (GRCm39) K134E probably benign Het
Kat2b T G 17: 53,970,651 (GRCm39) I679S possibly damaging Het
Klhl10 A G 11: 100,347,240 (GRCm39) Y478C probably damaging Het
Mapt A G 11: 104,178,009 (GRCm39) D54G probably damaging Het
Mocs1 A G 17: 49,740,229 (GRCm39) E52G probably benign Het
Plekhn1 T G 4: 156,307,820 (GRCm39) T369P probably damaging Het
Prdm6 T A 18: 53,673,357 (GRCm39) F172L probably benign Het
Prl7b1 A T 13: 27,788,573 (GRCm39) V94D probably damaging Het
Rasal2 T C 1: 156,975,387 (GRCm39) T1116A probably benign Het
Rreb1 A T 13: 38,114,767 (GRCm39) K709* probably null Het
Ruvbl1 A T 6: 88,468,550 (GRCm39) R357W probably damaging Het
Slc4a5 T C 6: 83,273,579 (GRCm39) L973P probably damaging Het
Srp72 A G 5: 77,132,023 (GRCm39) Y234C probably damaging Het
Synrg G A 11: 83,930,072 (GRCm39) M1070I probably damaging Het
Zan A T 5: 137,462,512 (GRCm39) I889K possibly damaging Het
Zbtb40 G A 4: 136,714,651 (GRCm39) T1046M probably damaging Het
Zfp978 A G 4: 147,475,317 (GRCm39) N288S probably benign Het
Zfpm2 A T 15: 40,962,683 (GRCm39) K247M probably damaging Het
Other mutations in Cst5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00500:Cst5 APN 2 149,247,501 (GRCm39) missense probably damaging 0.98
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 2012-04-20