Incidental Mutation 'IGL01372:Slc5a5'
ID 76203
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 # IGL01372
Quality Score
Status
Chromosome 8
Chromosomal Location 71335533-71345401 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to A at 71343020 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000058368 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000809] [ENSMUST00000054220]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000000809
SMART Domains Protein: ENSMUSP00000000809
Gene: ENSMUSG00000000792

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 G A 10: 79,842,089 (GRCm39) D1049N probably benign Het
Ankdd1a A T 9: 65,411,421 (GRCm39) L362Q probably damaging Het
Ankib1 A T 5: 3,822,594 (GRCm39) N37K probably damaging Het
Ankrd55 T A 13: 112,459,677 (GRCm39) D90E probably damaging Het
Atp1a2 T C 1: 172,106,510 (GRCm39) R831G probably damaging Het
Bcar3 A G 3: 122,316,943 (GRCm39) D638G probably damaging Het
Cabp4 T A 19: 4,189,322 (GRCm39) E78D probably benign Het
Cmtm8 A G 9: 114,619,755 (GRCm39) V130A possibly damaging Het
Cyth3 A G 5: 143,678,393 (GRCm39) T66A possibly damaging Het
Dmbt1 A T 7: 130,705,409 (GRCm39) I1171F possibly damaging Het
Dnah10 G A 5: 124,856,218 (GRCm39) G2060D probably damaging Het
Dnah11 T C 12: 118,156,134 (GRCm39) H172R probably damaging Het
Dnah5 C T 15: 28,230,636 (GRCm39) A178V probably benign Het
Efcab6 T G 15: 83,928,505 (GRCm39) M30L possibly damaging Het
Ehbp1l1 T C 19: 5,765,817 (GRCm39) probably benign Het
Eps15 G A 4: 109,179,303 (GRCm39) E230K probably damaging Het
Fam91a1 A G 15: 58,301,911 (GRCm39) I258M probably damaging Het
Gm5581 G A 6: 131,145,366 (GRCm39) noncoding transcript Het
Hrh1 G A 6: 114,456,958 (GRCm39) V80I probably damaging Het
Ldhd G A 8: 112,355,032 (GRCm39) H290Y probably benign Het
Lepr G A 4: 101,592,774 (GRCm39) E130K possibly damaging Het
Mycbpap T C 11: 94,397,282 (GRCm39) I40V possibly damaging Het
Nrap T A 19: 56,317,534 (GRCm39) probably null Het
Opn5 T A 17: 42,891,435 (GRCm39) probably null Het
Or1j14 T A 2: 36,417,463 (GRCm39) I13N probably benign Het
Or5ac24 A G 16: 59,165,524 (GRCm39) I180T probably damaging Het
Otop3 A T 11: 115,235,930 (GRCm39) T521S possibly damaging Het
Pcsk5 T G 19: 17,595,108 (GRCm39) T409P probably damaging Het
Pde9a T A 17: 31,680,685 (GRCm39) F322Y probably benign Het
Pgm5 T A 19: 24,710,985 (GRCm39) I406F probably damaging Het
Prrc2b T C 2: 32,113,942 (GRCm39) S1998P probably damaging Het
Prune2 T C 19: 17,102,433 (GRCm39) Y2531H probably damaging Het
Ptprk T C 10: 28,445,923 (GRCm39) V932A probably benign Het
Rapgef6 T A 11: 54,559,437 (GRCm39) probably benign Het
Rgsl1 T A 1: 153,701,887 (GRCm39) Y224F probably damaging Het
Rps6kl1 A T 12: 85,193,663 (GRCm39) C143S probably damaging Het
S100a7l2 A G 3: 90,995,616 (GRCm39) probably benign Het
Tfb2m A G 1: 179,369,878 (GRCm39) S182P probably damaging Het
Tmc3 A G 7: 83,261,746 (GRCm39) H608R probably damaging Het
Trim37 T A 11: 87,075,772 (GRCm39) H459Q probably benign Het
Vmn2r71 A T 7: 85,270,022 (GRCm39) probably benign Het
Xirp2 T C 2: 67,344,334 (GRCm39) S2192P possibly damaging Het
Other mutations in Slc5a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00766:Slc5a5 APN 8 71,341,181 (GRCm39) missense probably damaging 0.99
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
IGL02559:Slc5a5 APN 8 71,342,915 (GRCm39) missense probably damaging 1.00
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 2013-10-07