Incidental Mutation 'R5661:Slc5a8'
ID 444092
Institutional Source Beutler Lab
Gene Symbol Slc5a8
Ensembl Gene ENSMUSG00000020062
Gene Name solute carrier family 5 (iodide transporter), member 8
Synonyms SMCT
MMRRC Submission 043304-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5661 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 88721854-88765377 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 88755290 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 466 (L466F)
Ref Sequence ENSEMBL: ENSMUSP00000020255 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020255]
AlphaFold Q8BYF6
Predicted Effect possibly damaging
Transcript: ENSMUST00000020255
AA Change: L466F

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000020255
Gene: ENSMUSG00000020062
AA Change: L466F

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
Meta Mutation Damage Score 0.0991 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 97% (57/59)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actg2 A G 6: 83,497,754 (GRCm39) I166T probably damaging Het
Actn1 T C 12: 80,231,618 (GRCm39) E273G probably benign Het
Arhgap15 G A 2: 44,212,739 (GRCm39) R403H possibly damaging Het
Arhgef26 T C 3: 62,285,075 (GRCm39) probably benign Het
Avl9 A T 6: 56,702,087 (GRCm39) R81* probably null Het
Brd3 G A 2: 27,351,584 (GRCm39) T223I possibly damaging Het
Cacna2d4 T C 6: 119,320,492 (GRCm39) M890T probably benign Het
Carm1 A G 9: 21,498,295 (GRCm39) D433G probably benign Het
Ccdc40 A G 11: 119,128,753 (GRCm39) K427E probably benign Het
Ccdc80 T C 16: 44,947,808 (GRCm39) Y929H probably damaging Het
Ccr9 A C 9: 123,609,164 (GRCm39) Y282S probably benign Het
Det1 C T 7: 78,492,958 (GRCm39) E349K probably damaging Het
Enpep T A 3: 129,070,406 (GRCm39) N834Y probably damaging Het
Epha7 A T 4: 28,946,217 (GRCm39) probably null Het
Fap A T 2: 62,367,307 (GRCm39) probably benign Het
Foxn4 A G 5: 114,411,053 (GRCm39) C23R probably benign Het
Gad1-ps T C 10: 99,280,901 (GRCm39) noncoding transcript Het
Gli2 C A 1: 118,781,032 (GRCm39) E238* probably null Het
Gm20939 C A 17: 95,183,207 (GRCm39) H148N probably damaging Het
Gnl1 T C 17: 36,293,447 (GRCm39) Y211H probably benign Het
Gpat3 A T 5: 101,033,808 (GRCm39) K221* probably null Het
Hjurp G C 1: 88,204,937 (GRCm39) probably benign Het
Hnrnph1 A T 11: 50,275,507 (GRCm39) Q415L probably benign Het
Kansl3 T C 1: 36,388,038 (GRCm39) E383G possibly damaging Het
Kdm5b T C 1: 134,526,811 (GRCm39) V311A probably benign Het
Lipk T A 19: 34,009,727 (GRCm39) M215K probably benign Het
Madd A G 2: 90,984,778 (GRCm39) probably null Het
Meltf A G 16: 31,700,744 (GRCm39) E88G possibly damaging Het
Mis18bp1 A T 12: 65,195,626 (GRCm39) S713T probably benign Het
Mocos T A 18: 24,799,052 (GRCm39) probably null Het
Msto1 T A 3: 88,820,192 (GRCm39) D88V possibly damaging Het
Myo5a A G 9: 75,074,488 (GRCm39) Y799C probably benign Het
Nectin4 T A 1: 171,212,738 (GRCm39) L357H probably damaging Het
Or4p22 G A 2: 88,317,441 (GRCm39) V122M probably damaging Het
Or6c2 A T 10: 129,362,618 (GRCm39) H174L probably benign Het
Pax2 A G 19: 44,779,161 (GRCm39) N179S probably damaging Het
Pcdhac2 C A 18: 37,278,499 (GRCm39) T493K probably damaging Het
Pgk2 G T 17: 40,518,287 (GRCm39) C380* probably null Het
Pi4k2b G A 5: 52,900,906 (GRCm39) probably null Het
Plcb3 A G 19: 6,940,588 (GRCm39) V416A probably damaging Het
Pom121l2 G A 13: 22,168,425 (GRCm39) G899R possibly damaging Het
Ppp4r1 T C 17: 66,110,963 (GRCm39) probably null Het
Prkdc G A 16: 15,628,634 (GRCm39) E3460K possibly damaging Het
Psmb3 A G 11: 97,597,659 (GRCm39) E75G possibly damaging Het
Retnlb C T 16: 48,638,429 (GRCm39) T50I probably benign Het
Sec16a A G 2: 26,329,649 (GRCm39) S789P probably benign Het
Sec24d C T 3: 123,136,734 (GRCm39) T489I probably damaging Het
Sec24d T C 3: 123,136,791 (GRCm39) M508T possibly damaging Het
Terf1 T A 1: 15,889,888 (GRCm39) V221E probably damaging Het
Trak1 A G 9: 121,272,703 (GRCm39) N187S possibly damaging Het
Trappc11 T A 8: 47,965,642 (GRCm39) D528V probably damaging Het
Tut4 A G 4: 108,370,384 (GRCm39) D761G probably benign Het
Vmn1r170 A G 7: 23,306,231 (GRCm39) N211S possibly damaging Het
Zfpm2 G A 15: 40,959,467 (GRCm39) W50* probably null 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
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
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'- ACTTTGACAAGAGGCAGAGC -3'
(R):5'- GTGCCCTATTTGTCACCCAAG -3'

Sequencing Primer
(F):5'- TCAGATAGGGAGCTGGCC -3'
(R):5'- CCCTATTTGTCACCCAAGTTTTAAAG -3'
Posted On 2016-11-09