Incidental Mutation 'R4880:Slc5a8'
ID 430230
Institutional Source Beutler Lab
Gene Symbol Slc5a8
Ensembl Gene ENSMUSG00000020062
Gene Name solute carrier family 5 (iodide transporter), member 8
Synonyms SMCT
MMRRC Submission 042489-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4880 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 88721854-88765377 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88727886 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 118 (Y118H)
Ref Sequence ENSEMBL: ENSMUSP00000020255 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020255]
AlphaFold Q8BYF6
Predicted Effect probably damaging
Transcript: ENSMUST00000020255
AA Change: Y118H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020255
Gene: ENSMUSG00000020062
AA Change: Y118H

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 0.8466 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.5%
Validation Efficiency 98% (89/91)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik T C 7: 41,276,529 (GRCm39) I744T possibly damaging Het
Adgrb1 T A 15: 74,458,871 (GRCm39) F1324L possibly damaging Het
Adm A G 7: 110,228,326 (GRCm39) H230R probably benign Het
Ank2 A T 3: 126,840,475 (GRCm39) probably null Het
Arih1 A T 9: 59,344,168 (GRCm39) F156L possibly damaging Het
Atf6b A G 17: 34,873,529 (GRCm39) H660R probably damaging Het
Bcl9l C A 9: 44,420,007 (GRCm39) Q1101K probably benign Het
Ccdc174 G A 6: 91,876,572 (GRCm39) probably benign Het
Ccdc65 A C 15: 98,620,538 (GRCm39) probably null Het
Cela2a T C 4: 141,549,598 (GRCm39) N59S probably benign Het
Cfap157 A T 2: 32,668,261 (GRCm39) V393E probably damaging Het
Chd1 T C 17: 17,594,916 (GRCm39) F17S probably damaging Het
Cpne3 T C 4: 19,540,827 (GRCm39) I183V probably benign Het
Cyp2d11 C A 15: 82,276,306 (GRCm39) V122L probably benign Het
Dcaf8 C A 1: 172,015,056 (GRCm39) probably benign Het
Dchs1 T A 7: 105,404,937 (GRCm39) D2535V probably benign Het
Eif4a2 G T 16: 22,927,650 (GRCm39) probably benign Het
Fzd4 T A 7: 89,057,109 (GRCm39) D385E probably benign Het
Galnt13 C A 2: 54,950,584 (GRCm39) Q422K probably damaging Het
Gnptab C T 10: 88,268,413 (GRCm39) Q507* probably null Het
Hoxa7 A G 6: 52,194,014 (GRCm39) probably benign Het
Htra1 T A 7: 130,563,813 (GRCm39) V228D probably damaging Het
Idi2l A T 13: 8,990,702 (GRCm39) probably null Het
Ifi203 T A 1: 173,756,716 (GRCm39) probably benign Het
Iqca1l T C 5: 24,754,750 (GRCm39) D340G probably benign Het
Irs1 TGGGGTGGACATCGAACTGAAGGAG TG 1: 82,265,453 (GRCm39) 913 probably null Het
Itga2b G T 11: 102,348,548 (GRCm39) probably benign Het
Itgb1 G T 8: 129,442,631 (GRCm39) R272L probably damaging Het
Kif9 A G 9: 110,330,703 (GRCm39) E343G probably damaging Het
Klhl5 T C 5: 65,316,244 (GRCm39) V97A probably damaging Het
Lama5 C A 2: 179,818,861 (GRCm39) probably benign Het
Lamb2 A G 9: 108,361,226 (GRCm39) probably null Het
Lrp1b T A 2: 41,660,931 (GRCm39) Y59F probably benign Het
Mmrn1 A G 6: 60,953,423 (GRCm39) E568G probably benign Het
Mreg A G 1: 72,201,495 (GRCm39) Y166H probably damaging Het
Myh7 C A 14: 55,216,045 (GRCm39) V1323F probably benign Het
Nr1i3 T A 1: 171,043,951 (GRCm39) I91K probably damaging Het
Nsfl1c T A 2: 151,348,230 (GRCm39) D206E probably damaging Het
Or11g24 T C 14: 50,662,758 (GRCm39) Y261H possibly damaging Het
Or13c3 A T 4: 52,856,411 (GRCm39) M34K probably damaging Het
Or2ak5 G A 11: 58,611,107 (GRCm39) L256F probably benign Het
Or4k44 A T 2: 111,367,698 (GRCm39) L312* probably null Het
Or5k17 A C 16: 58,746,463 (GRCm39) L157W probably damaging Het
Or8b54 T A 9: 38,686,843 (GRCm39) C97* probably null Het
Pcdhb7 C T 18: 37,475,284 (GRCm39) T140I probably benign Het
Pcdhgb5 T G 18: 37,865,641 (GRCm39) S479A probably benign Het
Pcsk5 T A 19: 17,425,054 (GRCm39) Y1583F probably damaging Het
Pias1 T C 9: 62,820,080 (GRCm39) R296G probably benign Het
Plscr1l1 A G 9: 92,236,665 (GRCm39) E108G probably damaging Het
Polr1e T A 4: 45,022,280 (GRCm39) C100S probably damaging Het
Rpap1 C A 2: 119,614,346 (GRCm39) R17L probably damaging Het
Rtn1 C T 12: 72,264,232 (GRCm39) V192I possibly damaging Het
Ryr2 G A 13: 11,767,104 (GRCm39) P1262L probably damaging Het
Slc4a7 G T 14: 14,757,342 (GRCm38) D396Y probably damaging Het
Slc7a6os T A 8: 106,937,247 (GRCm39) Q71L probably benign Het
Sphkap A G 1: 83,266,538 (GRCm39) V127A probably damaging Het
Srpk1 A G 17: 28,810,199 (GRCm39) S580P probably damaging Het
Syne2 A G 12: 76,026,593 (GRCm39) I3474V probably damaging Het
Tchh A G 3: 93,351,130 (GRCm39) D190G possibly damaging Het
Tenm4 T A 7: 96,555,025 (GRCm39) probably null Het
Tex14 T A 11: 87,377,121 (GRCm39) I155N possibly damaging Het
Tm7sf3 A T 6: 146,511,358 (GRCm39) V377E possibly damaging Het
Tnfsf9 T A 17: 57,412,433 (GRCm39) M1K probably null Het
Tns2 C T 15: 102,020,474 (GRCm39) T780I probably damaging Het
Trdn T A 10: 33,347,575 (GRCm39) D639E probably benign Het
Trmt10a A G 3: 137,857,972 (GRCm39) E173G possibly damaging Het
Ttn G A 2: 76,649,119 (GRCm39) P10984S possibly damaging Het
Tubb6 C T 18: 67,534,386 (GRCm39) T95M possibly damaging Het
Uroc1 G T 6: 90,334,519 (GRCm39) R577L probably damaging Het
Vmn2r86 T A 10: 130,289,484 (GRCm39) D137V probably benign Het
Xkr7 T C 2: 152,896,873 (GRCm39) Y576H probably damaging Het
Zfp410 A G 12: 84,384,449 (GRCm39) N355D probably damaging Het
Zfp59 C A 7: 27,543,742 (GRCm39) D22E probably damaging Het
Zfp64 C T 2: 168,736,297 (GRCm39) R460H probably damaging Het
Zfp655 T C 5: 145,181,168 (GRCm39) V342A probably damaging Het
Zfp990 G A 4: 145,264,490 (GRCm39) G496E 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
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
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'- AGTCTAAAGCATCAATGTTGCC -3'
(R):5'- CTTCTTTGTGAGGACGAGCG -3'

Sequencing Primer
(F):5'- GTCTAAAGCATCAATGTTGCCATATG -3'
(R):5'- ACGAGCGAATTTTTGTTTTTCTC -3'
Posted On 2016-09-26