Slc25a1 - SNV Details



 Gene Information 
Gene Name Slc25a1
Old Gene Names for Slc25a1 1300019p08rik , 2610100g11rik , Ai194714 , Dgsj , Slc20a3
Gene Description solute carrier family 25 (mitochondrial carrier, citrate transporter), member 1 [Source:MGI Symbol;Acc:MGI:1345283]
Uniprot Name
CCDS Name
Gene GO
mitochondrion; integral to membrane; mitochondrial inner membrane; transmembrane transport; molecular_function
Homolog in other species SLC25A1
Omim http://omim.org/entry/190315
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
HIGH(LOWER IN FERTILIZEDEGG, OOCYTE, MACROPHAGE_7HRLPS, SPLEEN, PLACENTA)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000003528
Chromosome 16
Coordinate 17,927,626     (Assembly: GRCm38)    
Ref Base A
Codon Change Tgc/Cgc
Var Base G
Zygosity Heterozygous
Read Depth 45
Allele Frequency
A:R0.47
G:V0.53
Amino Acid Position 41
Amino Acid Change C->R (Cysteine -> Arginine)
Sample ID IGL02076
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 26 Other Mutations

 Predictions 
Polyphen Score 0.99
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved