Incidental Mutation 'IGL03348:Ctsz'
ID 419569
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 # IGL03348
Quality Score
Status
Chromosome 2
Chromosomal Location 174269287-174280832 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 174270490 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 231 (I231F)
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: I231F

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000016400
Gene: ENSMUSG00000016256
AA Change: I231F

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A330008L17Rik A C 8: 100,148,324 (GRCm39) noncoding transcript Het
Actmap T G 7: 26,896,545 (GRCm39) probably null Het
Adgrv1 T C 13: 81,647,177 (GRCm39) N3121S possibly damaging Het
Aldh16a1 C T 7: 44,791,399 (GRCm39) R102Q possibly damaging Het
Atp9b A T 18: 80,879,637 (GRCm39) I346K possibly damaging Het
Baiap2l1 T C 5: 144,215,341 (GRCm39) K388R probably benign Het
Cfap65 A C 1: 74,966,778 (GRCm39) I303S probably damaging Het
Chd5 C T 4: 152,461,142 (GRCm39) P1244L probably damaging Het
Col12a1 A G 9: 79,600,712 (GRCm39) S791P possibly damaging Het
Dnah8 A G 17: 30,965,960 (GRCm39) T2431A probably damaging Het
Eif4b T C 15: 102,001,466 (GRCm39) probably benign Het
Epha4 T C 1: 77,483,809 (GRCm39) I67V possibly damaging Het
Exoc1 T A 5: 76,683,440 (GRCm39) V55D probably damaging Het
Exosc8 A T 3: 54,640,143 (GRCm39) D72E possibly damaging Het
F5 C T 1: 164,021,721 (GRCm39) P1399S possibly damaging Het
Fmo1 T A 1: 162,677,720 (GRCm39) N132I possibly damaging Het
Fndc1 T A 17: 7,991,479 (GRCm39) H739L unknown Het
Glb1l2 T C 9: 26,676,976 (GRCm39) D415G probably benign Het
Gphn T A 12: 78,673,893 (GRCm39) H498Q probably damaging Het
Lrrc56 A G 7: 140,787,153 (GRCm39) N342S probably benign Het
Mbnl3 G A X: 50,253,425 (GRCm39) T16I probably damaging Het
Mrps5 T G 2: 127,443,305 (GRCm39) H294Q probably damaging Het
Neu4 A G 1: 93,952,696 (GRCm39) Y355C possibly damaging Het
Obscn A T 11: 58,941,188 (GRCm39) D5105E probably damaging Het
Or4ac1-ps1 T C 2: 88,370,485 (GRCm39) noncoding transcript Het
Or4f56 C A 2: 111,703,493 (GRCm39) A236S probably damaging Het
Or4k15b A G 14: 50,272,212 (GRCm39) I216T probably benign Het
Or5p73 A G 7: 108,064,615 (GRCm39) D28G probably benign Het
Parp1 T A 1: 180,405,272 (GRCm39) probably benign Het
Plac1 A T X: 52,159,517 (GRCm39) N64K probably damaging Het
Plcd1 C A 9: 118,901,558 (GRCm39) K655N possibly damaging Het
Psme4 T C 11: 30,826,796 (GRCm39) S1772P probably damaging Het
Shcbp1 C T 8: 4,815,089 (GRCm39) V130I probably benign Het
Slc25a11 T C 11: 70,536,170 (GRCm39) probably benign Het
Svep1 C T 4: 58,113,635 (GRCm39) G1004E probably damaging Het
Tars2 T C 3: 95,647,580 (GRCm39) probably null Het
Tbc1d12 C T 19: 38,905,064 (GRCm39) T593I probably damaging Het
Tcerg1l T A 7: 137,815,100 (GRCm39) E526D probably damaging Het
Tmcc3 G A 10: 94,414,942 (GRCm39) V215M possibly damaging Het
Trappc8 T C 18: 20,985,838 (GRCm39) D601G probably damaging Het
Trp53bp2 T A 1: 182,281,313 (GRCm39) N971K probably damaging Het
Ube2g2 A T 10: 77,466,711 (GRCm39) E36D probably benign Het
Uggt2 T A 14: 119,308,300 (GRCm39) R360S probably benign Het
Utp20 A G 10: 88,594,179 (GRCm39) V2182A probably benign Het
Other mutations in Ctsz
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00957:Ctsz APN 2 174,269,771 (GRCm39) missense probably damaging 0.99
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
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 2016-08-02