|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 17, member 9|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7342 (G1)|
|Chromosomal Location||180725263-180742280 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 180736762 bp|
|Amino Acid Change||Leucine to Proline at position 246 (L246P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000091771 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000094218]|
|Predicted Effect||probably damaging
AA Change: L246P
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: L246P
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of transmembrane proteins that are involved in the transport of small molecules. The encoded protein participates in the vesicular uptake, storage, and secretion of adenoside triphosphate (ATP) and other nucleotides. A mutation in this gene was found in individuals with autosomal dominant disseminated superficial actinic porokeratosis-8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
PHENOTYPE: Homozygous knockout affects the neuroendocrine system, resulting in hypoglycemia, increased glucose tolerance and increased insulin sensitivity. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc17a9||
(F):5'- CCAAGGGATTAGTAAGATGCACC -3'
(R):5'- ACACTGACTCCATGTGGGAC -3'
(F):5'- GGATTAGTAAGATGCACCCTGACTC -3'
(R):5'- TGGGACCCACTCCTTCC -3'