Incidental Mutation 'IGL00957:Ctsz'
ID 26964
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ctsz
Ensembl Gene ENSMUSG00000016256
Gene Name cathepsin Z
Synonyms CTSX, cathepsin X, D2Wsu143e
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # IGL00957
Quality Score
Status
Chromosome 2
Chromosomal Location 174269287-174280832 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 174269771 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 272 (E272G)
Ref Sequence ENSEMBL: ENSMUSP00000016400 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016397] [ENSMUST00000016400] [ENSMUST00000109075]
AlphaFold Q9WUU7
Predicted Effect probably benign
Transcript: ENSMUST00000016397
SMART Domains Protein: ENSMUSP00000016397
Gene: ENSMUSG00000016253

DomainStartEndE-ValueType
Pfam:TH1 11 604 6.5e-276 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000016400
AA Change: E272G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000016400
Gene: ENSMUSG00000016256
AA Change: E272G

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pept_C1 64 301 5.46e-51 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109075
SMART Domains Protein: ENSMUSP00000104703
Gene: ENSMUSG00000016253

DomainStartEndE-ValueType
Pfam:TH1 10 590 5.6e-303 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137986
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139390
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143683
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the peptidase C1 (papain) family of cysteine proteases. The encoded preproprotein is proteolytically processed to generate a mature enzyme with carboxypeptidase activity. An enzymatically inactive form of the protein, that is associated with the propeptide, may be involved in cancer cell invasion and proliferation. Homozygous knockout mice for this gene exhibit impaired cancer cell invasion in a breast cancer model. [provided by RefSeq, Aug 2015]
PHENOTYPE: No abnormal pheotype detected in homozygous mutant mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam23 T A 1: 63,573,470 (GRCm39) I246N probably benign Het
Adora1 A G 1: 134,130,951 (GRCm39) L240P probably damaging Het
Ago4 C T 4: 126,410,926 (GRCm39) V188I probably benign Het
Ccdc138 T A 10: 58,364,838 (GRCm39) probably benign Het
Cpeb4 A G 11: 31,823,204 (GRCm39) Y306C probably damaging Het
Dst G A 1: 34,267,488 (GRCm39) V5155I probably benign Het
Fabp12 C T 3: 10,315,273 (GRCm39) probably null Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Hpcal1 G A 12: 17,837,591 (GRCm39) E142K probably benign Het
Hspa4 G A 11: 53,171,514 (GRCm39) T230I probably benign Het
Htt T C 5: 34,964,068 (GRCm39) V387A probably benign Het
Loxl3 A G 6: 83,025,747 (GRCm39) probably benign Het
Lrrc30 G A 17: 67,939,499 (GRCm39) S27L probably benign Het
Mtpn A G 6: 35,516,547 (GRCm39) probably benign Het
Mug2 A G 6: 122,017,613 (GRCm39) Y450C probably damaging Het
Ncl A G 1: 86,284,091 (GRCm39) probably null Het
Or8k23 A T 2: 86,186,477 (GRCm39) V83E possibly damaging Het
Psmd3 T A 11: 98,576,394 (GRCm39) S99T probably benign Het
Rb1cc1 G A 1: 6,319,763 (GRCm39) A1061T probably damaging Het
Rhbdd1 T C 1: 82,318,362 (GRCm39) Y82H probably damaging Het
Slc5a6 T C 5: 31,196,279 (GRCm39) probably benign Het
Sox6 T C 7: 115,376,327 (GRCm39) K135R probably damaging Het
Tasor2 T A 13: 3,627,101 (GRCm39) I950F possibly damaging Het
Tbx21 A G 11: 96,989,920 (GRCm39) V424A probably benign Het
Trpa1 A T 1: 14,951,892 (GRCm39) Y936N probably damaging Het
Ttn G T 2: 76,569,280 (GRCm39) D25458E probably damaging Het
Zfp629 C T 7: 127,211,896 (GRCm39) V6M probably damaging Het
Other mutations in Ctsz
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02574:Ctsz APN 2 174,270,891 (GRCm39) missense probably benign 0.16
IGL03342:Ctsz APN 2 174,270,933 (GRCm39) missense possibly damaging 0.92
IGL03348:Ctsz APN 2 174,270,490 (GRCm39) missense probably damaging 0.98
R1872:Ctsz UTSW 2 174,269,769 (GRCm39) missense probably benign
R4373:Ctsz UTSW 2 174,270,378 (GRCm39) missense possibly damaging 0.94
R4890:Ctsz UTSW 2 174,270,393 (GRCm39) missense probably damaging 1.00
R8135:Ctsz UTSW 2 174,270,946 (GRCm39) missense probably benign
R8694:Ctsz UTSW 2 174,280,072 (GRCm39) missense probably benign 0.01
R8783:Ctsz UTSW 2 174,280,675 (GRCm39) nonsense probably null
R8975:Ctsz UTSW 2 174,275,421 (GRCm39) missense probably benign 0.12
Posted On 2013-04-17