|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 23 (nucleobase transporters), member 1|
|Synonyms||Slc23a2, YSPL3, D18Ucla2, SVCT1|
|Is this an essential gene?||Possibly non essential (E-score: 0.461)|
|Stock #||R6966 (G1)|
|Chromosomal Location||35614604-35627244 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 35625061 bp|
|Amino Acid Change||Isoleucine to Asparagine at position 142 (I142N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025212 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025212] [ENSMUST00000150877]|
|Predicted Effect||probably damaging
AA Change: I142N
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: I142N
|Predicted Effect||probably benign
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The absorption of vitamin C into the body and its distribution to organs requires two sodium-dependent vitamin C transporters. This gene encodes one of the two transporters. The encoded protein is active in bulk vitamin C transport involving epithelial surfaces. Previously, this gene had an official symbol of SLC23A2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal ascorbate homeostasis and early postnatal lethality associated with lethargy and lack of gastric milk. Heterozygous mice of homozgous dams exhibit a similar phenotype. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc23a1||
(F):5'- CACCATACTGGACACCATGATTG -3'
(R):5'- AAGTCAATCCTGGCCTTGGAG -3'
(F):5'- ACCATGATTGCACCCTGG -3'
(R):5'- CCTTGGAGAGGTGGAAGTGTCC -3'