Incidental Mutation 'R0010:Slc5a8'
ID 32496
Institutional Source Beutler Lab
Gene Symbol Slc5a8
Ensembl Gene ENSMUSG00000020062
Gene Name solute carrier family 5 (iodide transporter), member 8
Synonyms SMCT
MMRRC Submission 038305-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0010 (G1)
Quality Score 166
Status Validated (trace)
Chromosome 10
Chromosomal Location 88721854-88765377 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88722452 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 95 (V95A)
Ref Sequence ENSEMBL: ENSMUSP00000020255 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020255]
AlphaFold Q8BYF6
Predicted Effect probably benign
Transcript: ENSMUST00000020255
AA Change: V95A

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000020255
Gene: ENSMUSG00000020062
AA Change: V95A

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 0.0635 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.9%
Validation Efficiency 100% (89/89)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf3 T C 5: 30,410,607 (GRCm39) probably benign Het
Ahrr G A 13: 74,431,143 (GRCm39) probably benign Het
Aoc1l3 A T 6: 48,965,840 (GRCm39) H616L probably damaging Het
Bbs7 T C 3: 36,661,866 (GRCm39) probably null Het
Cacna1h T C 17: 25,599,818 (GRCm39) K1566E probably damaging Het
Ccdc73 C T 2: 104,811,332 (GRCm39) probably benign Het
Cd74 A T 18: 60,942,143 (GRCm39) H124L probably benign Het
Cd74 A T 18: 60,936,968 (GRCm39) probably benign Het
Cdk5rap2 T C 4: 70,161,696 (GRCm39) E270G probably benign Het
Ces2a G A 8: 105,468,028 (GRCm39) D520N probably benign Het
Cldnd1 T A 16: 58,551,622 (GRCm39) probably benign Het
Cox17 T A 16: 38,167,532 (GRCm39) C24S possibly damaging Het
Cyp2b9 T A 7: 25,886,178 (GRCm39) probably benign Het
Dennd4a T C 9: 64,803,997 (GRCm39) L1112P probably benign Het
Dennd4c T C 4: 86,699,814 (GRCm39) S222P probably damaging Het
Dhx37 T A 5: 125,508,680 (GRCm39) Q85L probably benign Het
Egfem1 G T 3: 29,637,068 (GRCm39) C192F probably damaging Het
Eif3f A T 7: 108,540,212 (GRCm39) N336Y possibly damaging Het
Evc2 T A 5: 37,574,793 (GRCm39) L1016Q probably damaging Het
Fam114a2 G T 11: 57,404,982 (GRCm39) T40N probably damaging Het
Fam135b T C 15: 71,493,881 (GRCm39) K16R probably damaging Het
Fcho1 A G 8: 72,162,643 (GRCm39) Y725H probably damaging Het
Frem1 T C 4: 82,918,335 (GRCm39) I536V probably benign Het
Galnt2l G A 8: 122,997,337 (GRCm39) probably benign Het
Ginm1 T C 10: 7,651,138 (GRCm39) probably benign Het
Glrb A T 3: 80,767,622 (GRCm39) probably benign Het
Glt6d1 C A 2: 25,684,739 (GRCm39) probably null Het
Gm10320 T C 13: 98,626,054 (GRCm39) Y110C probably damaging Het
Gm3985 A T 8: 33,432,484 (GRCm39) noncoding transcript Het
Gm5422 A G 10: 31,125,750 (GRCm39) noncoding transcript Het
Igkv6-29 A T 6: 70,115,754 (GRCm39) probably benign Het
Inpp5d G A 1: 87,625,268 (GRCm39) probably null Het
Itpr3 T G 17: 27,339,951 (GRCm39) V2610G probably damaging Het
Kmt5c T A 7: 4,749,207 (GRCm39) M88K probably benign Het
Lrp12 C T 15: 39,741,672 (GRCm39) A367T probably damaging Het
Ltbp1 A G 17: 75,670,386 (GRCm39) T1476A probably damaging Het
Mcoln2 C T 3: 145,889,316 (GRCm39) T374M probably damaging Het
Milr1 T G 11: 106,657,829 (GRCm39) *209G probably null Het
Mitf A G 6: 97,784,242 (GRCm39) K33R probably benign Het
Mon2 A C 10: 122,868,599 (GRCm39) S485A probably damaging Het
Mpdu1 C T 11: 69,549,667 (GRCm39) G47R probably damaging Het
Ms4a4d A G 19: 11,532,190 (GRCm39) N112S probably damaging Het
Mybpc3 G A 2: 90,965,178 (GRCm39) W1082* probably null Het
Myl3 A C 9: 110,596,997 (GRCm39) D119A probably damaging Het
Naa15 A T 3: 51,343,634 (GRCm39) probably null Het
Nav3 A G 10: 109,659,087 (GRCm39) probably benign Het
Nek7 T A 1: 138,471,942 (GRCm39) Q66L possibly damaging Het
Nktr G A 9: 121,570,232 (GRCm39) probably benign Het
Nlgn1 G T 3: 25,490,006 (GRCm39) probably benign Het
Npr1 T C 3: 90,362,139 (GRCm39) E1002G probably damaging Het
Nup133 A T 8: 124,631,318 (GRCm39) I1072N probably damaging Het
Oc90 C T 15: 65,748,397 (GRCm39) C371Y probably damaging Het
Or5ak24 A T 2: 85,260,239 (GRCm39) D311E probably benign Het
Or7g20 A T 9: 18,946,618 (GRCm39) L66F probably damaging Het
Or8b42 A T 9: 38,342,216 (GRCm39) I213F possibly damaging Het
Pradc1 A T 6: 85,424,213 (GRCm39) N44K probably damaging Het
Pradc1 T C 6: 85,424,602 (GRCm39) D116G probably damaging Het
Ptprk G A 10: 28,461,965 (GRCm39) C91Y probably damaging Het
Pus7 T C 5: 23,952,843 (GRCm39) I491V probably benign Het
Rock1 T A 18: 10,084,380 (GRCm39) D951V probably damaging Het
Scgb2b26 T A 7: 33,643,774 (GRCm39) E55D probably damaging Het
Scn8a T C 15: 100,911,454 (GRCm39) V958A probably damaging Het
Sec14l1 T C 11: 117,034,596 (GRCm39) probably benign Het
Sec24c A G 14: 20,739,329 (GRCm39) probably benign Het
Sema6b C T 17: 56,431,105 (GRCm39) E853K probably benign Het
Sgk1 G A 10: 21,873,337 (GRCm39) probably null Het
Shprh C T 10: 11,027,675 (GRCm39) T94I probably benign Het
Slc16a3 T C 11: 120,847,531 (GRCm39) S240P probably benign Het
Smg1 A T 7: 117,771,082 (GRCm39) probably benign Het
Spta1 G A 1: 174,045,509 (GRCm39) V1556I probably benign Het
Trappc14 T C 5: 138,258,555 (GRCm39) probably null Het
Trappc4 G A 9: 44,316,528 (GRCm39) probably benign Het
Tubgcp6 A G 15: 88,987,386 (GRCm39) S1188P probably benign Het
Txlna T G 4: 129,522,879 (GRCm39) D487A probably benign Het
Ube2d2b T C 5: 107,978,502 (GRCm39) F51S possibly damaging Het
Vmn2r6 G A 3: 64,466,966 (GRCm39) Q178* probably null Het
Wdfy3 T C 5: 101,996,215 (GRCm39) T3234A probably damaging Het
Ylpm1 C A 12: 85,075,800 (GRCm39) Q384K probably damaging Het
Zbtb41 T G 1: 139,351,268 (GRCm39) V127G probably damaging Het
Zfp605 T A 5: 110,275,400 (GRCm39) C173S probably benign Het
Zfp608 A T 18: 55,028,286 (GRCm39) probably benign Het
Zhx2 T C 15: 57,684,670 (GRCm39) V13A possibly damaging 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
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
Predicted Primers PCR Primer
(F):5'- TCGGCGGCTATAGGCATCTATTACG -3'
(R):5'- ATCCGATATGCACCCACAAGGAGAG -3'

Sequencing Primer
(F):5'- ATAGGCATCTATTACGCCTTCG -3'
(R):5'- GGAGCCTGAAAATGCAAGCA -3'
Posted On 2013-05-09