Incidental Mutation 'IGL02186:Slc5a5'
ID283666
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? Probably non essential (E-score: 0.065) question?
Stock #IGL02186
Quality Score
Status
Chromosome8
Chromosomal Location70882889-70892757 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 70886120 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 516 (D516Y)
Ref Sequence ENSEMBL: ENSMUSP00000000809 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000809]
Predicted Effect possibly damaging
Transcript: ENSMUST00000000809
AA Change: D516Y

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000000809
Gene: ENSMUSG00000000792
AA Change: D516Y

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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130230L23Rik A G 5: 65,988,468 F100S unknown Het
Abca3 A G 17: 24,377,740 Y389C possibly damaging Het
Acrbp G T 6: 125,054,810 probably null Het
Adam21 G A 12: 81,559,209 T593I possibly damaging Het
Adipor1 T A 1: 134,425,960 M161K probably benign Het
Agrp A T 8: 105,567,189 N48K probably benign Het
Asprv1 A T 6: 86,628,918 M249L probably damaging Het
Begain A G 12: 109,033,352 Y703H probably damaging Het
Bspry T A 4: 62,495,989 probably benign Het
Cct8l1 T G 5: 25,516,838 S184A probably benign Het
Cdk13 C T 13: 17,772,527 V549I probably benign Het
Cdyl2 C T 8: 116,579,286 R412Q possibly damaging Het
Celf6 T C 9: 59,603,525 S205P probably damaging Het
Cltc G A 11: 86,704,985 A1263V possibly damaging Het
Cltc C A 11: 86,704,986 A1263S possibly damaging Het
Ctnnd2 T A 15: 30,480,793 F62L probably damaging Het
Dlec1 T A 9: 119,143,627 C1473S probably benign Het
Dmbt1 T A 7: 131,093,256 probably benign Het
Dnase1 G A 16: 4,039,032 V176I probably benign Het
Dusp1 G T 17: 26,507,058 Y220* probably null Het
Enpp3 A C 10: 24,791,983 probably benign Het
Exosc10 T C 4: 148,565,298 L395P probably damaging Het
Fn1 T C 1: 71,638,534 K533R probably damaging Het
Gcm2 T A 13: 41,104,649 T168S possibly damaging Het
Gm9924 C A 5: 31,095,147 probably benign Het
Ifrd1 A G 12: 40,214,093 V101A probably benign Het
Iqsec1 G T 6: 90,676,877 Q629K probably damaging Het
Kcnma1 T A 14: 23,526,813 M254L probably benign Het
Krit1 T C 5: 3,809,733 probably benign Het
Letm1 T C 5: 33,745,047 K633E probably benign Het
Mfsd1 A G 3: 67,596,595 I307V probably benign Het
Mtrr T C 13: 68,564,357 T637A probably benign Het
Naxe C A 3: 88,056,998 D212Y probably damaging Het
Nlk A T 11: 78,586,936 V327D probably damaging Het
Olfr1131 A T 2: 87,629,371 I187F probably benign Het
Olfr38 A G 6: 42,762,946 K298R probably null Het
Pdzd8 C T 19: 59,300,628 G780D probably damaging Het
Prune1 T C 3: 95,259,237 probably benign Het
Qser1 A T 2: 104,788,261 H645Q probably damaging Het
Rd3l A G 12: 111,979,467 Y193H probably benign Het
Reln A G 5: 21,909,958 Y3119H probably damaging Het
Scel C T 14: 103,564,821 A219V probably benign Het
Skint11 A T 4: 114,244,636 Q91L possibly damaging Het
Slc39a10 G A 1: 46,818,128 A696V probably damaging Het
Slc8b1 G A 5: 120,527,863 probably null Het
Slc9a3 A G 13: 74,163,114 E576G possibly damaging Het
Slco1b2 A T 6: 141,634,545 probably benign Het
Smc5 A G 19: 23,231,859 V647A probably damaging Het
Snph T C 2: 151,594,343 N222D possibly damaging Het
Srbd1 A G 17: 86,109,231 F500L probably benign Het
Stxbp6 T C 12: 44,902,023 D101G probably damaging Het
Taar7b A G 10: 23,999,981 I15V probably benign Het
Tdrd12 G T 7: 35,501,401 N338K probably damaging Het
Tmem214 G A 5: 30,872,746 A296T probably benign Het
Tmem219 A T 7: 126,896,816 D128E probably benign Het
Togaram2 A G 17: 71,685,171 T3A possibly damaging Het
Ttn C T 2: 76,894,283 probably benign Het
Uchl1 C A 5: 66,677,039 C47* probably null Het
Unc79 T G 12: 103,011,283 S182A probably benign Het
Vmn2r1 A G 3: 64,081,717 T26A probably benign Het
Vmn2r9 G A 5: 108,843,636 L620F probably damaging Het
Vps54 T C 11: 21,306,947 V685A probably damaging Het
Zcchc7 T G 4: 44,762,250 V126G possibly damaging Het
Zmym2 A G 14: 56,943,351 T907A probably benign Het
Other mutations in Slc5a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00766:Slc5a5 APN 8 70888537 missense probably damaging 0.99
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
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
Posted On2015-04-16