|List |< first << previous [record 33 of 48] next >> last >||
|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 24, member 5|
|Synonyms||Oca6, NCX5, F630045L20Rik, NCKX5|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1018 (G1)|
|Chromosomal Location||125068124-125088677 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 125068907 bp|
|Amino Acid Change||Valine to Alanine at position 86 (V86A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000063887 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000070353]|
|Predicted Effect||probably damaging
AA Change: V86A
PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
AA Change: V86A
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.2446|
|Coding Region Coverage||
|Validation Efficiency||100% (50/50)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the potassium-dependent sodium/calcium exchanger family and encodes an intracellular membrane protein with 2 large hydrophilic loops and 2 sets of multiple transmembrane-spanning segments. Sequence variation in this gene has been associated with differences in skin pigmentation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit hypopigmentation and ocular albinism. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc24a5||
(F):5'- CGCTGTAATAATGCCTCCCTCCAAC -3'
(R):5'- AAACGTGCTTCTGCCTGGACTC -3'
(F):5'- GCTTCAGACGTGTGACTCC -3'
(R):5'- TGGACTCCCAGGATGGAC -3'