|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 30 (zinc transporter), member 7|
|Synonyms||2610034N15Rik, 4833428C12Rik, 1810059J10Rik, ZnT-7, ZnT7|
|Is this an essential gene?||Probably essential (E-score: 0.783)|
|Stock #||R4850 (G1)|
|Chromosomal Location||115938973-116007406 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 115993008 bp (GRCm38)|
|Amino Acid Change||Phenylalanine to Leucine at position 72 (F72L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000065254 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000067485]|
AA Change: F72L
PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
AA Change: F72L
|Meta Mutation Damage Score||0.2362|
|Coding Region Coverage||
|Validation Efficiency||99% (79/80)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Zinc functions as a cofactor for numerous enzymes, nuclear factors, and hormones and as an intra- and intercellular signal ion. Members of the zinc transporter (ZNT)/SLC30 subfamily of the cation diffusion facilitator family, such as SLC30A7, permit cellular efflux of zinc (Seve et al., 2004 [PubMed 15154973]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit a low body zinc status, reduced food intake and poor body weight gain, and are lean due to a significant reduction in body fat accumulation; however, no signs of hair growth abnormalities or dermatitis are observed. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc30a7||
(F):5'- CAGGAAGTTAACAGGTCACCC -3'
(R):5'- GGGCTTTCGTTAGCAGGATC -3'
(F):5'- AGTCTCAGGAGCTCAGACC -3'
(R):5'- CTTTCGTTAGCAGGATCTTTCTG -3'