|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 30 (zinc transporter), member 5|
|Synonyms||Zntl1, Znt5, 1810010K08Rik, ZTL1, ZnT-5|
|Is this an essential gene?||Possibly non essential (E-score: 0.293)|
|Stock #||R2151 (G1)|
|Chromosomal Location||100802648-100833427 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 100803949 bp|
|Amino Acid Change||Histidine to Glutamine at position 619 (H619Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000153587 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000067246] [ENSMUST00000225922]|
|Predicted Effect||possibly damaging
AA Change: H676Q
PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
AA Change: H676Q
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Predicted Effect||probably damaging
AA Change: H619Q
PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|Meta Mutation Damage Score||0.4|
|Coding Region Coverage||
|Validation Efficiency||100% (91/91)|
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'- TCCCTGTAACCTGTTAAGACATTCAG -3'
(R):5'- CTCATTAAATACGCTCAGGAAACAG -3'
(F):5'- CCTGTCTACAAAGTGAGTTCCAGG -3'
(R):5'- TACGCTCAGGAAACAGAATAAATG -3'