Incidental Mutation 'IGL00507:Slc5a8'
ID 14114
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc5a8
Ensembl Gene ENSMUSG00000020062
Gene Name solute carrier family 5 (iodide transporter), member 8
Synonyms SMCT
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00507
Quality Score
Status
Chromosome 10
Chromosomal Location 88721854-88765377 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88743902 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 346 (Y346C)
Ref Sequence ENSEMBL: ENSMUSP00000020255 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020255]
AlphaFold Q8BYF6
Predicted Effect possibly damaging
Transcript: ENSMUST00000020255
AA Change: Y346C

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000020255
Gene: ENSMUSG00000020062
AA Change: Y346C

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
Pfam:SSF 45 449 2.6e-38 PFAM
low complexity region 462 478 N/A INTRINSIC
transmembrane domain 519 541 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.] SLC5A8 has been shown to transport iodide by a passive mechanism (Rodriguez et al., 2002 [PubMed 12107270]) and monocarboxylates and short-chain fatty acids by a sodium-coupled mechanism (Gopal et al., 2004 [PubMed 15322102]). In kidney, SLC5A8 functions as a high-affinity sodium-coupled lactate transporter involved in reabsorption of lactate and maintenance of blood lactate levels (Thangaraju et al., 2006 [PubMed 16873376]).[supplied by OMIM, Dec 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit increased lactate concentrations in the saliva and urine. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg1 C T 9: 54,529,712 (GRCm39) probably benign Het
Adgrb3 T A 1: 25,113,796 (GRCm39) R1450S possibly damaging Het
Apc A G 18: 34,449,979 (GRCm39) I2258V probably benign Het
Atxn2l C A 7: 126,095,756 (GRCm39) A374S possibly damaging Het
Cacna1a T A 8: 85,297,837 (GRCm39) Y1182* probably null Het
Cc2d1b G T 4: 108,486,927 (GRCm39) A647S probably damaging Het
Csn2 A G 5: 87,842,632 (GRCm39) S116P probably benign Het
Eya4 G A 10: 23,033,434 (GRCm39) Q163* probably null Het
Fam47c A T X: 77,781,931 (GRCm39) D171V probably benign Het
Fhdc1 A T 3: 84,356,107 (GRCm39) C446S probably damaging Het
Fkbp9 T A 6: 56,827,686 (GRCm39) V169E probably damaging Het
Fras1 A T 5: 96,926,048 (GRCm39) I3751F probably damaging Het
Gkn1 T C 6: 87,323,321 (GRCm39) Y164C probably damaging Het
Hs3st5 T C 10: 36,708,918 (GRCm39) I151T probably benign Het
Ighv8-6 A T 12: 115,129,472 (GRCm39) S95T probably damaging Het
Loxhd1 A G 18: 77,420,263 (GRCm39) I296V probably benign Het
Lrrc66 T C 5: 73,764,457 (GRCm39) E862G probably benign Het
Ltbp3 T C 19: 5,806,044 (GRCm39) V934A probably damaging Het
Mpp3 A T 11: 101,892,929 (GRCm39) I501K possibly damaging Het
Mroh2b C T 15: 4,991,609 (GRCm39) T1569I probably damaging Het
Nup133 A T 8: 124,645,706 (GRCm39) Y626* probably null Het
Pak3 T A X: 142,572,329 (GRCm39) N477K probably damaging Het
Plod3 A G 5: 137,025,030 (GRCm39) H714R possibly damaging Het
Ppil1 T C 17: 29,470,675 (GRCm39) N102S probably damaging Het
Rapgef6 A T 11: 54,554,935 (GRCm39) R996* probably null Het
Scd3 G A 19: 44,224,273 (GRCm39) D169N probably damaging Het
Sgo2a T A 1: 58,055,753 (GRCm39) F646I probably damaging Het
Slc7a15 A T 12: 8,585,474 (GRCm39) V49E probably damaging Het
Stard8 G A X: 98,112,941 (GRCm39) E649K probably damaging Het
Other mutations in Slc5a8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00902:Slc5a8 APN 10 88,755,323 (GRCm39) missense probably benign 0.03
IGL00960:Slc5a8 APN 10 88,757,627 (GRCm39) missense probably benign 0.21
IGL01109:Slc5a8 APN 10 88,742,254 (GRCm39) missense possibly damaging 0.95
IGL01365:Slc5a8 APN 10 88,727,959 (GRCm39) splice site probably benign
IGL01418:Slc5a8 APN 10 88,740,895 (GRCm39) missense probably damaging 1.00
IGL01823:Slc5a8 APN 10 88,755,334 (GRCm39) nonsense probably null
IGL02116:Slc5a8 APN 10 88,755,362 (GRCm39) missense probably benign
IGL03109:Slc5a8 APN 10 88,742,278 (GRCm39) splice site probably benign
PIT4585001:Slc5a8 UTSW 10 88,722,365 (GRCm39) missense probably damaging 1.00
R0010:Slc5a8 UTSW 10 88,722,452 (GRCm39) missense probably benign 0.03
R0418:Slc5a8 UTSW 10 88,722,420 (GRCm39) missense probably benign 0.01
R1233:Slc5a8 UTSW 10 88,754,304 (GRCm39) missense probably damaging 1.00
R1656:Slc5a8 UTSW 10 88,761,648 (GRCm39) critical splice donor site probably null
R1769:Slc5a8 UTSW 10 88,755,328 (GRCm39) nonsense probably null
R1769:Slc5a8 UTSW 10 88,755,326 (GRCm39) missense probably benign
R2870:Slc5a8 UTSW 10 88,740,825 (GRCm39) missense probably benign 0.01
R2870:Slc5a8 UTSW 10 88,740,825 (GRCm39) missense probably benign 0.01
R2873:Slc5a8 UTSW 10 88,740,825 (GRCm39) missense probably benign 0.01
R3883:Slc5a8 UTSW 10 88,738,325 (GRCm39) missense possibly damaging 0.89
R4207:Slc5a8 UTSW 10 88,747,275 (GRCm39) missense probably damaging 1.00
R4731:Slc5a8 UTSW 10 88,761,649 (GRCm39) critical splice donor site probably null
R4880:Slc5a8 UTSW 10 88,727,886 (GRCm39) missense probably damaging 1.00
R4969:Slc5a8 UTSW 10 88,740,774 (GRCm39) splice site probably null
R4998:Slc5a8 UTSW 10 88,743,919 (GRCm39) critical splice donor site probably null
R5009:Slc5a8 UTSW 10 88,745,516 (GRCm39) missense probably benign 0.07
R5068:Slc5a8 UTSW 10 88,722,460 (GRCm39) missense possibly damaging 0.82
R5069:Slc5a8 UTSW 10 88,722,460 (GRCm39) missense possibly damaging 0.82
R5070:Slc5a8 UTSW 10 88,722,460 (GRCm39) missense possibly damaging 0.82
R5130:Slc5a8 UTSW 10 88,762,077 (GRCm39) missense probably benign
R5141:Slc5a8 UTSW 10 88,755,422 (GRCm39) critical splice donor site probably null
R5252:Slc5a8 UTSW 10 88,742,209 (GRCm39) missense probably damaging 1.00
R5659:Slc5a8 UTSW 10 88,755,290 (GRCm39) missense possibly damaging 0.89
R5660:Slc5a8 UTSW 10 88,755,290 (GRCm39) missense possibly damaging 0.89
R5661:Slc5a8 UTSW 10 88,755,290 (GRCm39) missense possibly damaging 0.89
R6039:Slc5a8 UTSW 10 88,722,436 (GRCm39) missense probably benign 0.00
R6039:Slc5a8 UTSW 10 88,722,436 (GRCm39) missense probably benign 0.00
R6378:Slc5a8 UTSW 10 88,740,916 (GRCm39) missense probably damaging 1.00
R7214:Slc5a8 UTSW 10 88,755,364 (GRCm39) missense probably benign
R7255:Slc5a8 UTSW 10 88,745,493 (GRCm39) missense probably damaging 1.00
R7526:Slc5a8 UTSW 10 88,738,353 (GRCm39) missense probably damaging 1.00
R7604:Slc5a8 UTSW 10 88,740,822 (GRCm39) missense possibly damaging 0.78
R7688:Slc5a8 UTSW 10 88,757,561 (GRCm39) missense probably damaging 1.00
R7869:Slc5a8 UTSW 10 88,757,567 (GRCm39) missense probably benign 0.15
R8219:Slc5a8 UTSW 10 88,757,561 (GRCm39) missense probably damaging 1.00
R8474:Slc5a8 UTSW 10 88,757,552 (GRCm39) missense possibly damaging 0.69
R8937:Slc5a8 UTSW 10 88,740,885 (GRCm39) missense probably damaging 1.00
R8960:Slc5a8 UTSW 10 88,722,035 (GRCm39) start gained probably benign
R9000:Slc5a8 UTSW 10 88,762,090 (GRCm39) missense probably benign 0.13
R9000:Slc5a8 UTSW 10 88,762,089 (GRCm39) missense probably benign 0.00
R9792:Slc5a8 UTSW 10 88,757,591 (GRCm39) missense possibly damaging 0.55
R9795:Slc5a8 UTSW 10 88,757,591 (GRCm39) missense possibly damaging 0.55
Z1177:Slc5a8 UTSW 10 88,745,475 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06