|Institutional Source||Beutler Lab|
|Gene Name||phosphogluconate dehydrogenase|
|Is this an essential gene?||Probably essential (E-score: 0.958)|
|Stock #||R0980 (G1)|
|Chromosomal Location||149149991-149166771 bp(-) (GRCm38)|
|Type of Mutation||splice site|
|DNA Base Change (assembly)||A to T at 149154311 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000081141 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000084124]|
|Predicted Effect||probably null
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 6-phosphogluconate dehydrogenase is the second dehydrogenase in the pentose phosphate shunt. Deficiency of this enzyme is generally asymptomatic, and the inheritance of this disorder is autosomal dominant. Hemolysis results from combined deficiency of 6-phosphogluconate dehydrogenase and 6-phosphogluconolactonase suggesting a synergism of the two enzymopathies. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pgd||
(F):5'- TGGAATTGGAGGACCTCTACAGACC -3'
(R):5'- TGAGTTGTTCTGTGCAATCCTTGCC -3'
(F):5'- TCTACAGACCCCACCACAGG -3'
(R):5'- ACGTCCCTTTGAATTCCGAG -3'