Ctsq - SNV Details



 Gene Information 
Gene Name Ctsq
Old Gene Names for Ctsq 1600010j02rik
Gene Description cathepsin Q [Source:MGI Symbol;Acc:MGI:2137385]
Uniprot Name
CCDS Name
Gene GO
cellular_component
cysteine-type endopeptidase activity
cysteine-type peptidase activity
proteolysis
Immgen Expression
LOW
Gnf Expression
MEDIAN(HIGH IN UMBLICALCORD, PLACENTA, LUNG)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000021439
Chromosome 13
Coordinate 61,036,184     (Assembly: GRCm38)    
Ref Base A
Codon Change aTc/aAc
Var Base T
Zygosity Heterozygous
Read Depth 135
Allele Frequency
A:0.50
T:0.50
Amino Acid Position 308
Amino Acid Change I->N (Isoleucine -> Asparagine)
Sample ID IGL00743
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 42 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000021888:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Peptidase C1A, papain C-terminal Peptidase_C1A_C IPR000668 ENSMUSP00000021888 Smart 125
342 Description available Search pathways
Peptidase C1A, papain C-terminal Peptidase_C1A_C IPR000668 ENSMUSP00000021888 Prints 305
311 Description available Search pathways
Peptidase C1A, papain C-terminal Peptidase_C1A_C IPR000668 ENSMUSP00000021888 Pfam 125
341 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved