Mocs1 - SNV Details



 Human Rare Diseases 
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

 Gene Information 
Gene Name Mocs1
Old Gene Names for Mocs1 3110045d15rik , Ai043170 , Aw536397
Gene Description molybdenum cofactor synthesis 1 [Source:MGI Symbol;Acc:MGI:1928904]
MGI phenotype Homozygotes for a targeted null mutation lack the cofactor molybdopterin and enzyme activities dependent on the cofactor (including sulfate oxidase and xanthine oxidase), have curly whiskers, and die between postnatal days 1 and 11.
Uniprot Name
CCDS Name
Gene GO
Mo-molybdopterin cofactor biosynthetic process; catalytic activity; metal ion binding; molybdopterin cofactor biosynthetic process; cyclic pyranopterin monophosphate synthase activity; cellular_component; GTP binding; 4 iron
4 sulfur cluster binding; iron-sulfur cluster binding; molybdopterin synthase complex
Omim http://omim.org/entry/603707
Immgen Expression
MEDIAN(HIGHER IN MYELOID GROUP, TGD.VG5+.ACT.IEL)
Gnf Expression
LOW
MEDIAN(HIGH IN MACROPHAGES, OSTEOCLASTS)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000064120
Chromosome 17
Coordinate 49,435,264     (Assembly: GRCm38)    
Ref Base T
Var Base G
Zygosity Heterozygous
Read Depth 287
Allele Frequency
T:R0.53
G:V0.47
Amino Acid Change Disrupted splicing
Splice Position 2
Sample ID IGL00331
Median Base Quality 35
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 46 Other Mutations

 Predictions 

 Availability Details 
Availability Progeny Cryopreserved