Pcx - SNV Details



 Gene Information 
Gene Name Pcx
Old Gene Names for Pcx Pc
Gene Description pyruvate carboxylase [Source:MGI Symbol;Acc:MGI:97520]
Uniprot Name
CCDS Name
Gene GO
mitochondrion; carboxylic acid binding; gluconeogenesis; oxaloacetate metabolic process; catalytic activity; metal ion binding; biotin carboxylase activity; D-alanine-D-alanine ligase activity; metabolic process; biotin binding; mitochondrial inner membrane; peptidoglycan biosynthetic process; ATP binding; ligase activity; pyruvate metabolic process; pyruvate carboxylase activity
Homolog in other species PC
Immgen Expression
MEDIAN(HIGHER IN DC.LC.SK)
Gnf Expression
MEDIAN(HIGH IN KIDNEY, LIVER, IMM.G2, LYMPHNODE, C2C12, UMBLICALCORD, OSTEO GROUP, EPIDERMIS TISSUES, BROWNFAT, HEART, SKELETALMUSCLE, IMM.G3, GI GROUP, TRACHEA, PROSTATE, LUNG, BLADDER, UTERUS, OVARY, ADIPOSETISSUE, ADRENALGLAND)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000024892
Chromosome 19
Coordinate 4,620,235     (Assembly: GRCm38)    
Ref Base T
Codon Change tTc/tAc
Var Base A
Zygosity Heterozygous
Read Depth 32
Allele Frequency
T:R0.44
A:V0.56
Amino Acid Position 948
Amino Acid Change F->Y (Phenylalanine -> Tyrosine)
Sample ID IGL01339
Median Base Quality 34
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 61 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 0.49
Sift Prediction tolerated

 Protein domains 
ENSMUSP00000063825:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Carboxylase, conserved domain Carboxylase_cons_dom IPR003379 ENSMUSP00000063825 Pfam 862
1062 Description available Search pathways
Pyruvate carboxylase Pyruv_COase IPR005930 ENSMUSP00000063825 TIGRfam 40
1179 Description available Search pathways
Pyruvate carboxylase Pyruv_COase IPR005930 ENSMUSP00000063825 PIRSF 32
1179 Description available Search pathways

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved