|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 26, member 4|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0152 (G1)|
|Chromosomal Location||31519827-31559969 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 31529498 bp|
|Amino Acid Change||Isoleucine to Methionine at position 588 (I588M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000001253 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000001253]|
|Predicted Effect||probably damaging
AA Change: I588M
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: I588M
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
|Validation Efficiency||87% (40/46)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mutations in this gene are associated with Pendred syndrome, the most common form of syndromic deafness, an autosomal-recessive disease. It is highly homologous to the SLC26A3 gene; they have similar genomic structures and this gene is located 3' of the SLC26A3 gene. The encoded protein has homology to sulfate transporters. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants are completely deaf with vestibular dysfunction. Mutants show endolymphatic dilatation, degeneration of sensory cells and malformations of otoconia and otoconial membranes. They display unsteady gait and circling and head bobbing. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc26a4||
(F):5'- TCAGATCCACACCTGTTATGGCCC -3'
(R):5'- CGTGCTAGTTTCCTGCTTCCAGAG -3'
(F):5'- ACCTGTTATGGCCCATGCG -3'
(R):5'- gcgtcctctgcctcctc -3'