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|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 3, member 1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5049 (G1)|
|Chromosomal Location||85028347-85064243 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 85032845 bp|
|Amino Acid Change||Tyrosine to Aspartic acid at position 232 (Y232D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000024944 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000024944]|
|Predicted Effect||probably damaging
AA Change: Y232D
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Y232D
|Meta Mutation Damage Score||0.9335|
|Coding Region Coverage||
|Validation Efficiency||97% (89/92)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type II membrane glycoprotein which is one of the components of the renal amino acid transporter which transports neutral and basic amino acids in the renal tubule and intestinal tract. Mutations and deletions in this gene are associated with cystinuria. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutation of this locus results in renal absorption defects and cystine urolithiasis. Homozygous mutant mice serve as a mouse model for human cystinuria type I. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc3a1||
(F):5'- TGGTTGCTGCCATCCATGAC -3'
(R):5'- AAAAGCTCTTGGGGCTTTTGTC -3'
(F):5'- GTTGCTGCCATCCATGACAAAGG -3'
(R):5'- GGGGCTTTTGTCTATTTCTAACTAAC -3'