Incidental Mutation 'R1233:Slc5a8'
ID 152357
Institutional Source Beutler Lab
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 # R1233 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 88721854-88765377 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 88754304 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Histidine at position 435 (P435H)
Ref Sequence ENSEMBL: ENSMUSP00000020255 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020255]
AlphaFold Q8BYF6
Predicted Effect probably damaging
Transcript: ENSMUST00000020255
AA Change: P435H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020255
Gene: ENSMUSG00000020062
AA Change: P435H

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
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 95.9%
  • 20x: 90.9%
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ache A G 5: 137,288,419 (GRCm39) probably null Het
Aopep T A 13: 63,347,334 (GRCm39) M631K probably damaging Het
Arfgef1 T C 1: 10,254,315 (GRCm39) D773G probably damaging Het
Arhgap45 T C 10: 79,863,416 (GRCm39) I753T probably damaging Het
Cd274 T A 19: 29,351,301 (GRCm39) probably null Het
Cdh16 C T 8: 105,345,114 (GRCm39) A392T possibly damaging Het
Csmd3 T C 15: 48,536,927 (GRCm39) T92A probably damaging Het
Exosc8 A T 3: 54,639,419 (GRCm39) C129S probably benign Het
Fat3 T G 9: 15,834,041 (GRCm39) I4184L probably benign Het
Frem2 A G 3: 53,455,199 (GRCm39) Y2126H probably damaging Het
Fsbp T C 4: 11,580,053 (GRCm39) M107T possibly damaging Het
Gper1 A G 5: 139,412,357 (GRCm39) Y234C probably damaging Het
Hmcn1 T C 1: 150,624,777 (GRCm39) S1043G probably benign Het
Kif2a T A 13: 107,123,840 (GRCm39) K137N probably damaging Het
Mrc2 T C 11: 105,239,241 (GRCm39) F1332S probably damaging Het
Nme8 T A 13: 19,844,682 (GRCm39) M375L possibly damaging Het
Or1e32 T A 11: 73,705,176 (GRCm39) H244L probably damaging Het
Per1 T C 11: 68,993,037 (GRCm39) L298P probably damaging Het
Polr2b A G 5: 77,482,412 (GRCm39) N650S probably benign Het
Ppara T C 15: 85,682,222 (GRCm39) V306A probably damaging Het
Rem1 G A 2: 152,476,455 (GRCm39) V238M probably damaging Het
Repin1 A G 6: 48,574,768 (GRCm39) T566A possibly damaging Het
Rhot2 T A 17: 26,063,071 (GRCm39) D57V probably damaging Het
Samd4b C T 7: 28,113,435 (GRCm39) G177R probably damaging Het
Stpg1 G A 4: 135,252,740 (GRCm39) A164T probably benign Het
Tll2 G T 19: 41,084,423 (GRCm39) A668D possibly damaging Het
Txnl1 T A 18: 63,808,539 (GRCm39) M180L probably benign Het
Vopp1 A C 6: 57,766,980 (GRCm39) L32R probably damaging Het
Wdr95 C T 5: 149,505,323 (GRCm39) T226I possibly damaging Het
Wdr95 C A 5: 149,518,829 (GRCm39) Q557K probably benign Het
Other mutations in Slc5a8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00507:Slc5a8 APN 10 88,743,902 (GRCm39) missense possibly damaging 0.91
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
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
Predicted Primers PCR Primer
(F):5'- TGCCTATTTGAGGGCACCTGAAAAG -3'
(R):5'- GCTTCCTCTAAGCCAGGTCTCAATG -3'

Sequencing Primer
(F):5'- ttgagaggtaggggcagg -3'
(R):5'- GTGTTGTCCTTCACTGTACACTC -3'
Posted On 2014-01-29