|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 24 (sodium/potassium/calcium exchanger), member 1|
|Is this an essential gene?||Possibly non essential (E-score: 0.270)|
|Stock #||R0827 (G1)|
|Chromosomal Location||64922861-64951607 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 64928190 bp|
|Amino Acid Change||Glycine to Aspartic acid at position 885 (G885D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000035616 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000037798]|
|Predicted Effect||probably benign
AA Change: G885D
PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
AA Change: G885D
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||100% (88/88)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the potassium-dependent sodium/calcium exchanger protein family. The encoded protein plays an important role in sodium/calcium exchange in retinal rod and cone photoreceptors by mediating the extrusion of one calcium ion and one potassium ion in exchange for four sodium ions. Mutations in this gene may play a role in congenital stationary night blindness. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a null allele display slow progressive retinal degeneration and develop stationary night blindness. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc24a1||
(F):5'- TGTCAGGCCATTCCAGAGACAGAG -3'
(R):5'- AAATCAGGCACAGTTGCTGCCG -3'
(F):5'- GGctcctcattttcctcctcc -3'
(R):5'- cagaaggaaaagaacaagaaggg -3'