|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 29 (nucleoside transporters), member 4|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5162 (G1)|
|Chromosomal Location||142692512-142722490 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 142721452 bp|
|Amino Acid Change||Alanine to Threonine at position 517 (A517T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000059896 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000058418] [ENSMUST00000152247]|
|Predicted Effect||possibly damaging
AA Change: A517T
PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: A517T
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.0667|
|Coding Region Coverage||
|Validation Efficiency||98% (61/62)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SLC29A/ENT transporter protein family. The encoded membrane protein catalyzes the reuptake of monoamines into presynaptic neurons, thus determining the intensity and duration of monoamine neural signaling. It has been shown to transport several compounds, including serotonin, dopamine, and the neurotoxin 1-methyl-4-phenylpyridinium. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired organic cation and monoamine uptake in the choroid plexus. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc29a4||
(F):5'- CACATGTGAGAAGCCATGGC -3'
(R):5'- AGCTGTTTTGGACAACTGGGAC -3'
(F):5'- CCATGGCCACAGAGATTGTCTAG -3'
(R):5'- TTTTGGACAACTGGGACAAGGTG -3'