|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 26, member 8|
|Is this an essential gene?||Possibly essential (E-score: 0.623)|
|Stock #||R5521 (G1)|
|Chromosomal Location||28637783-28689987 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 28654859 bp|
|Amino Acid Change||Threonine to Serine at position 385 (T385S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000110412 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000114764]|
|Predicted Effect||probably benign
AA Change: T385S
PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
AA Change: T385S
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.1264|
|Coding Region Coverage||
|Validation Efficiency||94% (72/77)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SLC26 gene family of anion transporters. Family members are well conserved in gene structure and protein length yet have markedly different tissue expression patterns. The expression of this gene appears to be restricted to spermatocytes. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for a targeted allele exhibit male sterility associated with sperm immotility, abnormal flagella and reduced acrosomal reaction. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc26a8||
(F):5'- CCATTCTAGGGGAATAATACTTGTGTG -3'
(R):5'- AGCCTGGCATAAGGACTGAG -3'
(F):5'- CTTGTGTGAACTCAAGAAGGTTC -3'
(R):5'- GCAGTATGTGACATCCTATGCCAG -3'