|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 46, member 1|
|Synonyms||1110002C08Rik, D11Ertd18e, heme carrier protein 1, HCP1, PCFT|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6807 (G1)|
|Chromosomal Location||78465697-78472059 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 78466964 bp|
|Amino Acid Change||Histidine to Arginine at position 281 (H281R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000001126 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000001126] [ENSMUST00000146431]|
|Predicted Effect||probably damaging
AA Change: H281R
PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
AA Change: H281R
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.6064|
|Coding Region Coverage||
|Validation Efficiency||100% (72/72)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane proton-coupled folate transporter protein that facilitates the movement of folate and antifolate substrates across cell membranes, optimally in acidic pH environments. This protein is also expressed in the brain and choroid plexus where it transports folates into the central nervous system. This protein further functions as a heme transporter in duodenal enterocytes, and potentially in other tissues like liver and kidney. Its localization to the apical membrane or cytoplasm of intestinal cells is modulated by dietary iron levels. Mutations in this gene are associated with autosomal recessive hereditary folate malabsorption disease. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased circulating and liver levels of N-homocysteine and total homocysteine. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc46a1||
(F):5'- ATTGTCATGGCTCTATACGCAGC -3'
(R):5'- TGGTAGCAAACGCAAAGACC -3'
(F):5'- ATGGCTCTATACGCAGCATTTTG -3'
(R):5'- TTCCCAGGATGTTGAAAGCC -3'