Mutagenetix > Incidental Mutation

Incidental Mutation 'R5068:Slc5a8'

388466

Institutional Source

Beutler Lab

Gene Symbol

Slc5a8

Ensembl Gene

ENSMUSG00000020062

Gene Name

solute carrier family 5 (iodide transporter), member 8

Synonyms

SMCT

MMRRC Submission

042658-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5068 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88721854-88765377 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88722460 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 98 (I98F)

Ref Sequence

ENSEMBL: ENSMUSP00000020255 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020255]

AlphaFold

Q8BYF6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020255
AA Change: I98F

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000020255
Gene: ENSMUSG00000020062
AA Change: I98F

Domain	Start	End	E-Value	Type
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: 98.5%
10x: 96.8%
20x: 93.6%

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: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,383,749 (GRCm39)	S739P	possibly damaging	Het
6030468B19Rik	A	G	11: 117,693,701 (GRCm39)	Y56C	possibly damaging	Het
Actn2	A	G	13: 12,303,408 (GRCm39)	I464T	possibly damaging	Het
Add2	T	A	6: 86,084,440 (GRCm39)	L496Q	probably damaging	Het
Akt1s1	T	C	7: 44,499,432 (GRCm39)		probably null	Het
Als2	G	T	1: 59,250,433 (GRCm39)	P437Q	probably benign	Het
Ankar	T	C	1: 72,719,369 (GRCm39)		probably null	Het
Ankrd17	T	C	5: 90,402,667 (GRCm39)	R1464G	probably damaging	Het
Ankrd24	T	C	10: 81,475,699 (GRCm39)	S121P	possibly damaging	Het
Arvcf	A	G	16: 18,217,736 (GRCm39)	Y412C	probably damaging	Het
Birc6	C	T	17: 74,872,967 (GRCm39)	R409C	probably damaging	Het
Bnip3l	T	C	14: 67,237,081 (GRCm39)	E57G	possibly damaging	Het
Calcoco1	A	G	15: 102,619,527 (GRCm39)	L354P	probably damaging	Het
Cc2d1b	T	C	4: 108,480,661 (GRCm39)	V27A	possibly damaging	Het
Cdc37	T	C	9: 21,061,099 (GRCm39)	T19A	probably damaging	Het
Cep152	T	C	2: 125,413,736 (GRCm39)	I1199V	probably benign	Het
Chd6	G	T	2: 160,808,289 (GRCm39)	L1642I	possibly damaging	Het
Chst13	T	C	6: 90,286,551 (GRCm39)	E137G	possibly damaging	Het
Cnrip1	A	G	11: 17,004,687 (GRCm39)	D79G	probably damaging	Het
Dars2	A	T	1: 160,869,483 (GRCm39)	C589S	probably benign	Het
Dhx15	T	G	5: 52,327,409 (GRCm39)	I102L	possibly damaging	Het
Dip2a	A	G	10: 76,153,877 (GRCm39)	L151P	possibly damaging	Het
Dlc1	T	C	8: 37,405,184 (GRCm39)	T202A	probably benign	Het
Dlg1	G	T	16: 31,503,113 (GRCm39)		probably null	Het
Dlgap4	T	C	2: 156,549,031 (GRCm39)	F464L	probably benign	Het
Dnah3	T	C	7: 119,632,013 (GRCm39)	H1314R	probably benign	Het
Dsp	A	C	13: 38,381,099 (GRCm39)	T2615P	possibly damaging	Het
Dthd1	C	A	5: 62,976,059 (GRCm39)	D244E	probably benign	Het
Dtl	A	T	1: 191,300,485 (GRCm39)	D126E	probably damaging	Het
Ell2	A	G	13: 75,911,737 (GRCm39)	N341S	probably benign	Het
Enpp2	T	C	15: 54,727,450 (GRCm39)	Y513C	probably damaging	Het
Erbb4	A	T	1: 68,083,061 (GRCm39)		probably null	Het
Erc2	A	T	14: 28,024,900 (GRCm39)	H593L	possibly damaging	Het
Ercc6	T	C	14: 32,292,020 (GRCm39)	V1128A	probably benign	Het
Fyn	A	G	10: 39,402,839 (GRCm39)	K204E	probably damaging	Het
Gm4847	A	T	1: 166,465,953 (GRCm39)	F212Y	possibly damaging	Het
Gpc5	T	C	14: 115,654,676 (GRCm39)	*499R	probably null	Het
Hcn4	T	C	9: 58,767,304 (GRCm39)	L955P	unknown	Het
Hook2	C	A	8: 85,720,028 (GRCm39)	L111I	possibly damaging	Het
Hook3	C	T	8: 26,585,785 (GRCm39)		probably null	Het
Hvcn1	T	C	5: 122,371,544 (GRCm39)	F28S	probably damaging	Het
Igkv6-32	A	G	6: 70,051,267 (GRCm39)	F30L	possibly damaging	Het
Inpp5b	G	A	4: 124,636,442 (GRCm39)		probably null	Het
Itgb2	G	A	10: 77,384,595 (GRCm39)	A239T	probably damaging	Het
Kcnrg	T	C	14: 61,845,266 (GRCm39)	L102P	probably damaging	Het
Kif16b	A	T	2: 142,553,627 (GRCm39)	M1068K	probably benign	Het
Kifc3	T	C	8: 95,836,844 (GRCm39)	R109G	possibly damaging	Het
Klhl28	A	T	12: 65,004,486 (GRCm39)	M9K	probably benign	Het
Kptn	T	C	7: 15,857,027 (GRCm39)	Y172H	probably damaging	Het
Mib1	A	G	18: 10,793,002 (GRCm39)	E646G	probably damaging	Het
Mmp14	T	A	14: 54,676,570 (GRCm39)	Y372N	probably damaging	Het
Mrc1	T	A	2: 14,311,327 (GRCm39)	M868K	probably benign	Het
Mterf1a	T	C	5: 3,941,854 (GRCm39)	N5D	probably benign	Het
Muc5b	T	C	7: 141,412,345 (GRCm39)	S1764P	unknown	Het
Myo9b	T	C	8: 71,801,699 (GRCm39)	Y1275H	probably damaging	Het
Nek1	T	C	8: 61,469,330 (GRCm39)	I129T	probably damaging	Het
Net1	G	A	13: 3,936,740 (GRCm39)	A221V	probably benign	Het
Nuak2	A	T	1: 132,259,509 (GRCm39)	D429V	probably benign	Het
Nup98	T	C	7: 101,794,862 (GRCm39)	T882A	probably benign	Het
Or11g2	T	A	14: 50,856,197 (GRCm39)	C173S	probably damaging	Het
Or11h4	C	A	14: 50,974,531 (GRCm39)	L29F	probably benign	Het
Or52ab4	A	T	7: 102,987,229 (GRCm39)		probably null	Het
Or52h1	T	A	7: 103,829,448 (GRCm39)	S56C	probably damaging	Het
Or8b42	T	C	9: 38,341,760 (GRCm39)	Y61H	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcdh7	T	C	5: 57,879,508 (GRCm39)	V1021A	probably damaging	Het
Pclo	G	C	5: 14,729,087 (GRCm39)		probably benign	Het
Pds5a	A	C	5: 65,772,615 (GRCm39)	D1329E	probably damaging	Het
Pex5	A	G	6: 124,390,555 (GRCm39)	S97P	probably benign	Het
Pias3	A	G	3: 96,611,171 (GRCm39)	K431E	probably damaging	Het
Piwil1	T	C	5: 128,818,678 (GRCm39)	S158P	probably damaging	Het
Plxnc1	A	T	10: 94,635,239 (GRCm39)	I1329N	possibly damaging	Het
Pnkp	C	T	7: 44,511,827 (GRCm39)	S113L	probably damaging	Het
Pnpla1	T	A	17: 29,098,397 (GRCm39)		probably null	Het
Prdm10	T	C	9: 31,270,343 (GRCm39)	Y827H	probably damaging	Het
Prss3b	A	C	6: 41,009,370 (GRCm39)	Y155D	probably benign	Het
Psma2	G	A	13: 14,790,613 (GRCm39)	V20I	probably benign	Het
Pwwp4a	T	C	X: 72,171,577 (GRCm39)	I323T	probably damaging	Het
Rgl3	A	G	9: 21,899,340 (GRCm39)		probably null	Het
Rnf17	T	C	14: 56,743,385 (GRCm39)	V1317A	probably damaging	Het
Rpp40	T	C	13: 36,082,681 (GRCm39)	N254D	probably benign	Het
Scin	T	A	12: 40,174,699 (GRCm39)	H128L	probably damaging	Het
Sh3bp2	A	T	5: 34,714,311 (GRCm39)	M225L	probably benign	Het
Shisa9	C	A	16: 12,085,412 (GRCm39)	H324Q	possibly damaging	Het
Sipa1l1	A	G	12: 82,484,601 (GRCm39)	D1585G	probably damaging	Het
Slc11a1	G	A	1: 74,424,343 (GRCm39)	A434T	probably damaging	Het
Slc6a13	T	C	6: 121,310,301 (GRCm39)	L320P	probably damaging	Het
Spats2l	A	G	1: 57,982,380 (GRCm39)	T421A	probably benign	Het
Spryd3	A	T	15: 102,037,046 (GRCm39)	D207E	probably benign	Het
Srrt	T	C	5: 137,294,803 (GRCm39)	N392S	possibly damaging	Het
Stk36	G	T	1: 74,661,504 (GRCm39)	R510S	probably benign	Het
Sucnr1	A	G	3: 59,994,288 (GRCm39)	Y272C	probably damaging	Het
Taar7b	T	G	10: 23,876,359 (GRCm39)	S175A	probably benign	Het
Tmem131	A	G	1: 36,893,986 (GRCm39)	I139T	probably damaging	Het
Tph2	T	A	10: 114,987,079 (GRCm39)	Y237F	probably benign	Het
Trim35	C	T	14: 66,546,421 (GRCm39)		probably benign	Het
Tsc22d1	T	C	14: 76,655,750 (GRCm39)	I661T	probably benign	Het
Ttc27	T	A	17: 75,106,337 (GRCm39)	H541Q	probably damaging	Het
Uap1	G	T	1: 169,989,032 (GRCm39)	P130Q	probably damaging	Het
Ube3c	T	C	5: 29,806,352 (GRCm39)		probably null	Het
Umad1	A	T	6: 8,401,157 (GRCm39)		probably null	Het
Usp34	T	C	11: 23,410,665 (GRCm39)	V2705A	possibly damaging	Het
Vps13a	T	C	19: 16,723,422 (GRCm39)	S259G	probably benign	Het
Vwa7	G	A	17: 35,243,166 (GRCm39)	V615I	probably benign	Het
Wdfy3	T	C	5: 102,042,803 (GRCm39)	T1983A	probably benign	Het
Wdr24	T	G	17: 26,044,753 (GRCm39)	F203V	possibly damaging	Het
Xlr4c	T	A	X: 72,282,290 (GRCm39)	K121M	probably damaging	Het
Zfc3h1	T	A	10: 115,254,688 (GRCm39)	C1427*	probably null	Het
Zfp282	A	C	6: 47,854,637 (GRCm39)	Q11P	probably benign	Het
Zfp750	T	A	11: 121,403,021 (GRCm39)	T576S	probably benign	Het

Other mutations in Slc5a8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- AGACCTCCAAGGACTTTCTTATGG -3'
(R):5'- CCTCTTAGAAGCCGCATGTC -3'

Sequencing Primer
(F):5'- CAAGGACTTTCTTATGGGCGGTC -3'
(R):5'- AGAAGCCGCATGTCTCTATG -3'

Posted On

2016-06-06