|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 30 (zinc transporter), member 8|
|Synonyms||ZnT-8, C820002P14Rik, ZnT8|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1725 (G1)|
|Chromosomal Location||52295553-52335798 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 52333604 bp|
|Amino Acid Change||Isoleucine to Phenylalanine at position 304 (I304F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000035257 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000037240]|
|Predicted Effect||possibly damaging
AA Change: I304F
PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
AA Change: I304F
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a zinc efflux transporter involved in the accumulation of zinc in intracellular vesicles. This gene is expressed at a high level only in the pancreas, particularly in islets of Langerhans. The encoded protein colocalizes with insulin in the secretory pathway granules of the insulin-secreting INS-1 cells. Allelic variants of this gene exist that confer susceptibility to diabetes mellitus, noninsulin-dependent (NIDDM). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced islet zinc levels, circulating insulin levels, and glucose-stimulated insulin secretion. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc30a8||
(F):5'- ATCAGTCTCAAAGCCTTCGGCAG -3'
(R):5'- TGTGCAATCAGCTCAGAGGATGC -3'
(F):5'- TCGGCAGAGGCAGATTTTTAAAC -3'
(R):5'- TCAGCTCAGAGGATGCAATTGG -3'