|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 30, member 10|
|Is this an essential gene?||Probably non essential (E-score: 0.080)|
|Stock #||R5597 (G1)|
|Chromosomal Location||185454848-185468762 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 185462700 bp|
|Amino Acid Change||Histidine to Glutamine at position 236 (H236Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000053181 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000061093]|
|Predicted Effect||probably damaging
AA Change: H236Q
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: H236Q
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|Validation Efficiency||100% (55/55)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is highly expressed in the liver and is inducible by manganese. Its protein product appears to be critical in maintaining manganese levels, and has higher specificity for manganese than zinc. Loss of function mutations appear to result in a pleomorphic phenotype, including dystonia and adult-onset parkinsonism. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Mar 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit post-weaning growth defects, increased manganese levels in the brain, blood, liver and thyroid gland, severe hypothyroidism and premature death. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc30a10||
(F):5'- TCACATTGCTCTGACCTGTG -3'
(R):5'- TTTGATCAGTGGGAAAGCTGAC -3'
(F):5'- AAGATGGTCTCACTATGTAGCTTAGG -3'
(R):5'- CTGACGATAAGATAATGATGACCATG -3'