Mccc2 - SNV Details



 Human Rare Diseases 
Isolated 3-methylcrotonyl-CoA carboxylase deficiency

 Gene Information 
Gene Name Mccc2
Old Gene Names for Mccc2 4930552n12rik
Gene Description methylcrotonoyl-Coenzyme A carboxylase 2 (beta) [Source:MGI Symbol;Acc:MGI:1925288]
Uniprot Name
CCDS Name
Gene GO
mitochondrion; coenzyme A metabolic process; methylcrotonoyl-CoA carboxylase activity; leucine catabolic process; protein binding; ATP binding; mitochondrial matrix; ligase activity
Homolog in other species MCCC2
Omim http://omim.org/entry/609014
Immgen Expression
MEDIAN(LOW IN GN.BM)
Gnf Expression
MEDIAN
MEDIAN(HIGH IN KIDNEY, LIVER, IMM GROUP, OSTEO GROUP, PROSTATE)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000021646
Chromosome 13
Coordinate 99,960,979     (Assembly: GRCm38)    
Ref Base C
Var Base A
Zygosity Heterozygous
Read Depth 14
Allele Frequency
C:R0.57
A:V0.43
Amino Acid Change Disrupted splicing
Splice Position 3
Sample ID IGL02996
Median Base Quality 37
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 31 Other Mutations

 Predictions 

 Availability Details 
Availability Cryopreserved