|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 5 (sodium iodide symporter), member 5|
|Is this an essential gene?||Probably non essential (E-score: 0.065)|
|Stock #||R2033 (G1)|
|Chromosomal Location||70882889-70892757 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 70888587 bp|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 369 (D369E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000000809 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000000809]|
|Predicted Effect||probably damaging
AA Change: D369E
PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
AA Change: D369E
|Meta Mutation Damage Score||0.228|
|Coding Region Coverage||
|Validation Efficiency||96% (53/55)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sodium glucose cotransporter family. The encoded protein is responsible for the uptake of iodine in tissues such as the thyroid and lactating breast tissue. The iodine taken up by the thyroid is incorporated into the metabolic regulators triiodothyronine (T3) and tetraiodothyronine (T4). Mutations in this gene are associated with thyroid dyshormonogenesis 1.[provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced T3 and T4 levels when fed a minimal iodine diet. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc5a5||
(F):5'- ACTCACGTAGGTACAAGACAGG -3'
(R):5'- AATTGACTGGCCAGCATCC -3'
(F):5'- TCTCACCTGGAGGACCCCAC -3'
(R):5'- ATCCCCTGGAGGATGCCAAG -3'