|Institutional Source||Beutler Lab|
|Gene Name||peroxisomal biogenesis factor 6|
|Is this an essential gene?||Possibly essential (E-score: 0.725)|
|Stock #||R8034 (G1)|
|Chromosomal Location||46711463-46725541 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to C at 46722399 bp|
|Amino Acid Change||Glycine to Alanine at position 616 (G616A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000002840 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000002840] [ENSMUST00000002846]|
|Predicted Effect||possibly damaging
AA Change: G616A
PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: G616A
|Predicted Effect||probably benign
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and complementation group 6. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pex6||
(F):5'- TTCCTGCACACCAAAGGCAG -3'
(R):5'- CCCTAGGGAGTTACACAAAAGGAC -3'
(F):5'- AGCCATGCCAGACCTTGC -3'
(R):5'- TTACACAAAAGGACACATGGGTAG -3'