|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 30 (zinc transporter), member 5|
|Synonyms||Zntl1, Znt5, 1810010K08Rik, ZTL1, ZnT-5|
|Essential gene?||Probably essential (E-score: 0.752)|
|Stock #||R7224 (G1)|
|Chromosomal Location||100802648-100833427 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 100809254 bp (GRCm38)|
|Amino Acid Change||Valine to Alanine at position 530 (V530A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000065764 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000067246] [ENSMUST00000225922]|
AA Change: V530A
PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
AA Change: V530A
AA Change: V473A
PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|Meta Mutation Damage Score||0.5585|
|Coding Region Coverage||
|Validation Efficiency||99% (79/80)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SLC30A/ZnT family of zinc transporter proteins. ZnT proteins mediate both cellular zinc efflux and zinc sequestration into membrane-bound organelles. The encoded protein plays a role in the early secretory pathway as a heterodimer with zinc transporter 6, and may also regulate zinc sequestration into secretory granules of pancreatic beta cells. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous null mice are growth retarded and exhibit skeletal defects including reduced bone density. The majority of mutant male mice die suddenly when they reach reproductive age due to bradyarrhythmia, whereas female mice live a normal term. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc30a5||
(F):5'- AGGACTCACCCCTCATGTTC -3'
(R):5'- GTACAGTTGGACCAAGGATGTG -3'
(F):5'- ACCCCTCATGTTCGCATTCATG -3'
(R):5'- CTAGGTAGCCCTGGAATTCACAG -3'