|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 5 (sodium/glucose cotransporter), member 1|
|Synonyms||Sglt1, sodium glucose cotransporter 1|
|Is this an essential gene?||Probably non essential (E-score: 0.138)|
|Stock #||R4963 (G1)|
|Chromosomal Location||33104219-33162870 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 33160782 bp|
|Amino Acid Change||Threonine to Isoleucine at position 593 (T593I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000011178 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000011178]|
|Predicted Effect||probably benign
AA Change: T593I
PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
AA Change: T593I
|Meta Mutation Damage Score||0.13|
|Coding Region Coverage||
|Validation Efficiency||97% (74/76)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sodium-dependent glucose transporter (SGLT) family. The encoded integral membrane protein is the primary mediator of dietary glucose and galactose uptake from the intestinal lumen. Mutations in this gene have been associated with glucose-galactose malabsorption. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality unless maintained on a glucose-galatose-free diet, distended intestine, impaired glucose transport across the brush border membrane and impaired renal glucose reabsorption. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc5a1||
(F):5'- CCGAGGATGCAGAATTCAGTTC -3'
(R):5'- CATGGCAGAAGACAGCTACC -3'
(F):5'- CTGCACTGCCTGGCACATAAATC -3'
(R):5'- CCAGCAGGATAATACCGTTGATGTTC -3'