Incidental Mutation 'IGL02574:Ctsz'
ID 299125
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: 0.158) question?
Stock # IGL02574
Quality Score
Status
Chromosome 2
Chromosomal Location 174269287-174280832 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 174270891 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Lysine at position 201 (R201K)
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 benign
Transcript: ENSMUST00000016400
AA Change: R201K

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000016400
Gene: ENSMUSG00000016256
AA Change: R201K

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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef12 T C 9: 42,916,919 (GRCm39) D409G probably damaging Het
AW551984 A C 9: 39,500,382 (GRCm39) L792R possibly damaging Het
Cep192 A G 18: 67,974,350 (GRCm39) E1151G probably damaging Het
Cfap44 C A 16: 44,301,746 (GRCm39) P1828Q probably damaging Het
Chid1 A T 7: 141,076,603 (GRCm39) probably benign Het
Col6a6 C A 9: 105,659,390 (GRCm39) L518F probably damaging Het
Diras1 T C 10: 80,858,119 (GRCm39) Y44C probably damaging Het
Grip1 T C 10: 119,778,818 (GRCm39) V159A probably damaging Het
Hpd T C 5: 123,317,420 (GRCm39) probably benign Het
Jag2 T C 12: 112,879,131 (GRCm39) N463S probably benign Het
Katnip A G 7: 125,428,925 (GRCm39) T516A possibly damaging Het
Kmt2a C A 9: 44,741,810 (GRCm39) probably benign Het
Myo5a A G 9: 75,118,429 (GRCm39) N1619D probably benign Het
Ncbp1 A G 4: 46,168,449 (GRCm39) probably null Het
Or12d13 G T 17: 37,647,415 (GRCm39) A236E probably damaging Het
Or2n1b C T 17: 38,460,280 (GRCm39) T267I possibly damaging Het
Pacsin2 G T 15: 83,272,864 (GRCm39) A154E possibly damaging Het
Plcd4 A T 1: 74,603,539 (GRCm39) I647F probably damaging Het
Prdm10 C T 9: 31,268,589 (GRCm39) A846V probably damaging Het
Ptgs2 G T 1: 149,978,526 (GRCm39) G213* probably null Het
Rcan3 C T 4: 135,152,706 (GRCm39) S5N probably benign Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Serpinc1 A G 1: 160,830,029 (GRCm39) N465S probably benign Het
Slc40a1 T C 1: 45,951,534 (GRCm39) I208V possibly damaging Het
Vcl C T 14: 20,979,643 (GRCm39) Q19* probably null Het
Other mutations in Ctsz
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00957:Ctsz APN 2 174,269,771 (GRCm39) missense probably damaging 0.99
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 2015-04-16