|Institutional Source||Beutler Lab|
|Gene Name||sorbitol dehydrogenase|
|Synonyms||Sodh-1, Sdh1, Sdh-1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6417 (G1)|
|Chromosomal Location||122234749-122265340 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 122264121 bp|
|Amino Acid Change||Lysine to Methionine at position 330 (K330M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000106180 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000110551]|
|Predicted Effect||possibly damaging
AA Change: K330M
PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: K330M
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||97% (30/31)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Sorbitol dehydrogenase (SORD; EC 126.96.36.199) catalyzes the interconversion of polyols and their corresponding ketoses, and together with aldose reductase (ALDR1; MIM 103880), makes up the sorbitol pathway that is believed to play an important role in the development of diabetic complications (summarized by Carr and Markham, 1995 [PubMed 8535074]). The first reaction of the pathway (also called the polyol pathway) is the reduction of glucose to sorbitol by ALDR1 with NADPH as the cofactor. SORD then oxidizes the sorbitol to fructose using NAD(+) cofactor.[supplied by OMIM, Jul 2010]
PHENOTYPE: Mice homozygous for a functional null allele found in strain C57BL/LiA exhibit no obvious abnormalities in the kidney or other physiological systems. An additional isoelectric focusing variant is found in Peru stocks and has about 25% of the activity of that in most inbred strains. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sord||
(F):5'- TCCATACCCTCAGACTGCAG -3'
(R):5'- AAGTTCTGCATTTACGGCCTC -3'
(F):5'- AAGGCTCCTGTCAGAAGCACTG -3'
(R):5'- GGCCTCCCCTTCTAGCCATTTAG -3'