Incidental Mutation 'IGL00766:Slc5a5'
ID14113
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc5a5
Ensembl Gene ENSMUSG00000000792
Gene Namesolute carrier family 5 (sodium iodide symporter), member 5
SynonymsNIS
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00766
Quality Score
Status
Chromosome8
Chromosomal Location70882889-70892757 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 70888537 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Serine at position 386 (I386S)
Ref Sequence ENSEMBL: ENSMUSP00000000809 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000809]
Predicted Effect probably damaging
Transcript: ENSMUST00000000809
AA Change: I386S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000000809
Gene: ENSMUSG00000000792
AA Change: I386S

DomainStartEndE-ValueType
Pfam:SSF 47 452 2.5e-43 PFAM
transmembrane domain 522 544 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik A T 15: 8,252,164 Q2829L unknown Het
Adgrl3 T A 5: 81,794,568 D1379E probably damaging Het
Akap13 A G 7: 75,704,512 T1794A probably damaging Het
Ano2 A T 6: 126,013,253 D779V probably damaging Het
Ap3b1 G T 13: 94,542,884 probably benign Het
Arfgef1 A G 1: 10,199,787 V379A probably benign Het
Arhgef10 A G 8: 14,975,006 Y398C probably damaging Het
Arid2 C T 15: 96,370,405 R800C probably benign Het
Ccdc88a T A 11: 29,501,046 H306Q probably damaging Het
Cckar C A 5: 53,700,036 R344L probably damaging Het
Egfem1 A G 3: 29,657,153 I237V possibly damaging Het
Erlec1 T A 11: 30,950,623 K143* probably null Het
Glyat T G 19: 12,651,262 D140E probably benign Het
Gm4907 C A X: 23,906,599 A113E probably benign Het
Grhl2 T C 15: 37,336,301 F50L probably damaging Het
Havcr2 T C 11: 46,469,546 V151A probably damaging Het
Herc1 A G 9: 66,450,741 Y2368C probably damaging Het
Ift80 A T 3: 68,914,653 Y686* probably null Het
Itga7 G T 10: 128,941,854 D235Y possibly damaging Het
Kctd3 C T 1: 188,995,776 V199I probably benign Het
Mettl25 A G 10: 105,779,582 probably benign Het
Myoz2 G A 3: 123,016,544 probably benign Het
Nepro C T 16: 44,729,305 Q43* probably null Het
Ophn1 T C X: 98,803,114 D74G probably damaging Het
Plau A G 14: 20,838,567 N84S probably benign Het
Rprd2 A G 3: 95,765,379 V904A possibly damaging Het
Satl1 T C X: 112,405,769 K330E possibly damaging Het
Sis C T 3: 72,907,237 probably benign Het
Slco1c1 T C 6: 141,547,883 Y264H probably damaging Het
Sulf1 A C 1: 12,820,463 D375A probably damaging Het
Tgfbi A G 13: 56,630,595 D393G probably benign Het
Trim59 A C 3: 69,037,379 D209E probably benign Het
Ubqln3 G T 7: 104,142,824 Q20K probably benign Het
Ubr4 A G 4: 139,440,766 D2808G probably damaging Het
Other mutations in Slc5a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01372:Slc5a5 APN 8 70890376 unclassified probably benign
IGL01394:Slc5a5 APN 8 70889388 nonsense probably null
IGL01571:Slc5a5 APN 8 70891332 unclassified probably benign
IGL02043:Slc5a5 APN 8 70892429 missense possibly damaging 0.84
IGL02186:Slc5a5 APN 8 70886120 missense possibly damaging 0.79
IGL02479:Slc5a5 APN 8 70888911 missense possibly damaging 0.67
IGL02559:Slc5a5 APN 8 70890271 missense probably damaging 1.00
IGL02892:Slc5a5 APN 8 70892517 missense probably damaging 1.00
IGL03388:Slc5a5 APN 8 70890328 missense probably benign 0.45
R0234:Slc5a5 UTSW 8 70889633 missense probably damaging 1.00
R0234:Slc5a5 UTSW 8 70889633 missense probably damaging 1.00
R0413:Slc5a5 UTSW 8 70891675 missense possibly damaging 0.63
R0662:Slc5a5 UTSW 8 70883875 missense probably benign 0.01
R0781:Slc5a5 UTSW 8 70890220 missense probably benign 0.19
R1061:Slc5a5 UTSW 8 70890221 missense probably benign 0.00
R1400:Slc5a5 UTSW 8 70889435 missense possibly damaging 0.87
R1524:Slc5a5 UTSW 8 70892334 missense probably damaging 1.00
R2033:Slc5a5 UTSW 8 70888587 missense probably damaging 0.99
R2072:Slc5a5 UTSW 8 70892439 missense possibly damaging 0.95
R2075:Slc5a5 UTSW 8 70892439 missense possibly damaging 0.95
R2110:Slc5a5 UTSW 8 70889751 intron probably null
R2111:Slc5a5 UTSW 8 70889751 intron probably null
R2112:Slc5a5 UTSW 8 70889751 intron probably null
R2201:Slc5a5 UTSW 8 70892458 missense probably damaging 0.98
R3978:Slc5a5 UTSW 8 70889395 missense probably benign 0.00
R4244:Slc5a5 UTSW 8 70890286 missense probably benign
R5161:Slc5a5 UTSW 8 70888848 missense probably damaging 1.00
R5397:Slc5a5 UTSW 8 70891179 missense probably damaging 1.00
R5718:Slc5a5 UTSW 8 70887755 missense probably benign 0.00
R5740:Slc5a5 UTSW 8 70888917 splice site probably null
R5869:Slc5a5 UTSW 8 70892330 missense probably damaging 1.00
R6268:Slc5a5 UTSW 8 70888620 missense probably damaging 1.00
R6290:Slc5a5 UTSW 8 70891178 missense probably damaging 1.00
R6292:Slc5a5 UTSW 8 70891178 missense probably damaging 1.00
R7098:Slc5a5 UTSW 8 70888538 missense probably damaging 0.99
R7354:Slc5a5 UTSW 8 70889603 missense probably damaging 1.00
Posted On2012-12-06