|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 16 (monocarboxylic acid transporters), member 1|
|Essential gene?||Essential (E-score: 1.000)|
|Stock #||R1638 (G1)|
|Chromosomal Location||104638668-104658462 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 104649482 bp (GRCm38)|
|Amino Acid Change||Isoleucine to Threonine at position 61 (I61T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000045216 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000046212]|
AA Change: I61T
PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
AA Change: I61T
|Meta Mutation Damage Score||0.9235|
|Coding Region Coverage||
|Validation Efficiency||99% (79/80)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a proton-linked monocarboxylate transporter that catalyzes the movement of many monocarboxylates, such as lactate and pyruvate, across the plasma membrane. Mutations in this gene are associated with erythrocyte lactate transporter defect. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygotes are non-viable, while heterozygous animals are resistant to diet-induced obesity. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc16a1||
(F):5'- AGAGGTTTGTTGCTCCCCTTGC -3'
(R):5'- AGCTGCCAGTGTTGTCAGAGATG -3'
(F):5'- CAGATACTAGATTTGCGCTGC -3'
(R):5'- TCAGAGATGAAAAGCACGCTTAATAC -3'