Incidental Mutation 'IGL02559:Slc5a5'
ID 298612
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc5a5
Ensembl Gene ENSMUSG00000000792
Gene Name solute carrier family 5 (sodium iodide symporter), member 5
Synonyms NIS
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02559
Quality Score
Status
Chromosome 8
Chromosomal Location 71335533-71345401 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 71342915 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 215 (G215D)
Ref Sequence ENSEMBL: ENSMUSP00000000809 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000809] [ENSMUST00000054220]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000000809
AA Change: G215D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000000809
Gene: ENSMUSG00000000792
AA Change: G215D

DomainStartEndE-ValueType
Pfam:SSF 47 452 2.5e-43 PFAM
transmembrane domain 522 544 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000054220
SMART Domains Protein: ENSMUSP00000058368
Gene: ENSMUSG00000045128

DomainStartEndE-ValueType
Pfam:Ribosomal_L18ae 7 130 1.4e-59 PFAM
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp C T 16: 56,507,433 (GRCm39) Q1004* probably null Het
Bahcc1 A G 11: 120,175,998 (GRCm39) D1914G probably damaging Het
Bcl11b A T 12: 107,881,653 (GRCm39) probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Col24a1 A T 3: 145,019,934 (GRCm39) I102F probably benign Het
Col7a1 C T 9: 108,802,284 (GRCm39) R2063C unknown Het
Ddo T A 10: 40,523,517 (GRCm39) L169Q probably damaging Het
Defb4 G T 8: 19,251,313 (GRCm39) C60F probably damaging Het
Dock9 A T 14: 121,862,559 (GRCm39) probably benign Het
Dysf A T 6: 84,044,428 (GRCm39) probably benign Het
Fasn G A 11: 120,699,892 (GRCm39) A2253V possibly damaging Het
Fbxw26 T C 9: 109,551,232 (GRCm39) D355G probably benign Het
Gak C T 5: 108,732,098 (GRCm39) E797K probably null Het
Gm10654 T C 8: 71,384,774 (GRCm39) noncoding transcript Het
Gnas T C 2: 174,183,729 (GRCm39) probably benign Het
H2bc11 T A 13: 22,227,533 (GRCm39) V45E possibly damaging Het
Hdac3 A G 18: 38,087,944 (GRCm39) F8S probably damaging Het
Hrh4 T C 18: 13,140,301 (GRCm39) probably null Het
Klhl1 A G 14: 96,389,396 (GRCm39) V586A possibly damaging Het
Lct T C 1: 128,222,003 (GRCm39) N1512S probably damaging Het
Mmp28 G T 11: 83,338,566 (GRCm39) N128K probably benign Het
Mndal T C 1: 173,700,486 (GRCm39) T162A probably benign Het
Myh3 A G 11: 66,991,921 (GRCm39) E1822G possibly damaging Het
Mylpf A G 7: 126,813,315 (GRCm39) Y133C probably damaging Het
Nup210l G A 3: 90,067,260 (GRCm39) A767T probably benign Het
Or10j3b T C 1: 173,044,088 (GRCm39) V290A probably damaging Het
Or52n2 T A 7: 104,542,161 (GRCm39) R225W probably benign Het
Or5au1 A G 14: 52,273,464 (GRCm39) Y35H probably damaging Het
Paics A G 5: 77,112,451 (GRCm39) I312V possibly damaging Het
Pkdrej G T 15: 85,702,049 (GRCm39) Q1296K probably benign Het
Rufy1 A G 11: 50,311,310 (GRCm39) F170L probably damaging Het
Shcbp1 T A 8: 4,799,305 (GRCm39) E93V probably damaging Het
Slamf1 T A 1: 171,594,826 (GRCm39) I11K possibly damaging Het
Slco1a1 A T 6: 141,867,514 (GRCm39) V473D probably benign Het
Slit1 A G 19: 41,709,524 (GRCm39) V123A probably benign Het
Srgap2 A C 1: 131,452,674 (GRCm39) probably null Het
Stk32c T C 7: 138,700,606 (GRCm39) M208V probably benign Het
Syt15 T C 14: 33,943,760 (GRCm39) V103A probably benign Het
Tacc2 T A 7: 130,360,997 (GRCm39) L456Q probably damaging Het
Tanc1 A G 2: 59,554,998 (GRCm39) probably benign Het
Tepsin G T 11: 119,987,731 (GRCm39) D62E probably benign Het
Thap3 T C 4: 152,068,144 (GRCm39) D106G probably benign Het
Ttn T C 2: 76,616,561 (GRCm39) D14818G probably damaging Het
Txndc2 T C 17: 65,946,585 (GRCm39) N39S possibly damaging Het
Ubxn11 A G 4: 133,852,254 (GRCm39) E200G probably damaging Het
Vmn2r11 T G 5: 109,200,046 (GRCm39) Q469P probably damaging Het
Yipf2 T C 9: 21,503,482 (GRCm39) T22A probably damaging Het
Ypel1 T C 16: 16,927,515 (GRCm39) K26E possibly damaging Het
Other mutations in Slc5a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00766:Slc5a5 APN 8 71,341,181 (GRCm39) missense probably damaging 0.99
IGL01372:Slc5a5 APN 8 71,343,020 (GRCm39) unclassified probably benign
IGL01394:Slc5a5 APN 8 71,342,032 (GRCm39) nonsense probably null
IGL01571:Slc5a5 APN 8 71,343,976 (GRCm39) unclassified probably benign
IGL02043:Slc5a5 APN 8 71,345,073 (GRCm39) missense possibly damaging 0.84
IGL02186:Slc5a5 APN 8 71,338,764 (GRCm39) missense possibly damaging 0.79
IGL02479:Slc5a5 APN 8 71,341,555 (GRCm39) missense possibly damaging 0.67
IGL02892:Slc5a5 APN 8 71,345,161 (GRCm39) missense probably damaging 1.00
IGL03388:Slc5a5 APN 8 71,342,972 (GRCm39) missense probably benign 0.45
R0234:Slc5a5 UTSW 8 71,342,277 (GRCm39) missense probably damaging 1.00
R0234:Slc5a5 UTSW 8 71,342,277 (GRCm39) missense probably damaging 1.00
R0413:Slc5a5 UTSW 8 71,344,319 (GRCm39) missense possibly damaging 0.63
R0662:Slc5a5 UTSW 8 71,336,519 (GRCm39) missense probably benign 0.01
R0781:Slc5a5 UTSW 8 71,342,864 (GRCm39) missense probably benign 0.19
R1061:Slc5a5 UTSW 8 71,342,865 (GRCm39) missense probably benign 0.00
R1400:Slc5a5 UTSW 8 71,342,079 (GRCm39) missense possibly damaging 0.87
R1524:Slc5a5 UTSW 8 71,344,978 (GRCm39) missense probably damaging 1.00
R2033:Slc5a5 UTSW 8 71,341,231 (GRCm39) missense probably damaging 0.99
R2072:Slc5a5 UTSW 8 71,345,083 (GRCm39) missense possibly damaging 0.95
R2075:Slc5a5 UTSW 8 71,345,083 (GRCm39) missense possibly damaging 0.95
R2110:Slc5a5 UTSW 8 71,342,395 (GRCm39) splice site probably null
R2111:Slc5a5 UTSW 8 71,342,395 (GRCm39) splice site probably null
R2112:Slc5a5 UTSW 8 71,342,395 (GRCm39) splice site probably null
R2201:Slc5a5 UTSW 8 71,345,102 (GRCm39) missense probably damaging 0.98
R3978:Slc5a5 UTSW 8 71,342,039 (GRCm39) missense probably benign 0.00
R4244:Slc5a5 UTSW 8 71,342,930 (GRCm39) missense probably benign
R5161:Slc5a5 UTSW 8 71,341,492 (GRCm39) missense probably damaging 1.00
R5397:Slc5a5 UTSW 8 71,343,823 (GRCm39) missense probably damaging 1.00
R5718:Slc5a5 UTSW 8 71,340,399 (GRCm39) missense probably benign 0.00
R5740:Slc5a5 UTSW 8 71,341,561 (GRCm39) splice site probably null
R5869:Slc5a5 UTSW 8 71,344,974 (GRCm39) missense probably damaging 1.00
R6268:Slc5a5 UTSW 8 71,341,264 (GRCm39) missense probably damaging 1.00
R6290:Slc5a5 UTSW 8 71,343,822 (GRCm39) missense probably damaging 1.00
R6292:Slc5a5 UTSW 8 71,343,822 (GRCm39) missense probably damaging 1.00
R7098:Slc5a5 UTSW 8 71,341,182 (GRCm39) missense probably damaging 0.99
R7354:Slc5a5 UTSW 8 71,342,247 (GRCm39) missense probably damaging 1.00
R8777:Slc5a5 UTSW 8 71,343,934 (GRCm39) missense possibly damaging 0.87
R8777-TAIL:Slc5a5 UTSW 8 71,343,934 (GRCm39) missense possibly damaging 0.87
R8903:Slc5a5 UTSW 8 71,345,227 (GRCm39) missense probably damaging 1.00
R9474:Slc5a5 UTSW 8 71,337,596 (GRCm39) missense probably benign
Posted On 2015-04-16