Suclg1 - SNV Details



 Human Rare Diseases 
Fatal infantile lactic acidosis with methylmalonic aciduria

 Gene Information 
Gene Name Suclg1
Old Gene Names for Suclg1 1500000i01rik
Gene Description succinate-CoA ligase, GDP-forming, alpha subunit [Source:MGI Symbol;Acc:MGI:1927234]
Uniprot Name
CCDS Name
Gene GO
mitochondrion; succinate metabolic process; catalytic activity; succinate-CoA ligase (GDP-forming) activity; succinate-CoA ligase (ADP-forming) activity; poly(A) RNA binding; GDP binding; metabolic process; protein complex; extracellular vesicular exosome; succinyl-CoA metabolic process; mitochondrial inner membrane; cofactor binding; succinate-CoA ligase complex (GDP-forming); GTP binding; ATP citrate synthase activity; tricarboxylic acid cycle; plasma membrane; protein heterodimerization activity
Homolog in other species SUCLG1
Omim http://omim.org/entry/611224
Immgen Expression
MEDIAN(HIGHER IN B.GC.SP, PROB.FRBC.FL, PREB.FRD.FL, DC8+.TH, T.8EFF.SP.OT1.D6.VSVOVA, TGD.TH, DC.LC.SK, MF.THIO5.II-480HI.PC, MO.6C+II-.LN)
Gnf Expression
MEDIAN
HIGH(LOWER IN FERTILIZED EGG, OOCYTE, PANCREAS, SPLEEN, BONE MARROW, THYROID)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000052738
Chromosome 6
Coordinate 73,270,992     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 44
Allele Frequency
A:R0.45
G:V0.55
Amino Acid Change N->S (Asparagine -> Serine)
Sample ID IGL03306
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 32 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved