Mutagenetix > Incidental Mutation

Incidental Mutation 'R5069:Slc5a8'

388559

Institutional Source

Beutler Lab

Gene Symbol

Slc5a8

Ensembl Gene

ENSMUSG00000020062

Gene Name

solute carrier family 5 (iodide transporter), member 8

Synonyms

SMCT

MMRRC Submission

042659-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5069 (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: 96.7%
20x: 93.5%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,383,749 (GRCm39)	S739P	possibly damaging	Het
AAdacl4fm3	T	A	4: 144,430,437 (GRCm39)	D184V	probably damaging	Het
Actn2	A	G	13: 12,303,408 (GRCm39)	I464T	possibly damaging	Het
Adcy7	T	C	8: 89,054,325 (GRCm39)	L1060P	probably damaging	Het
Aff3	A	G	1: 38,220,694 (GRCm39)		probably null	Het
Ankar	T	C	1: 72,719,369 (GRCm39)		probably null	Het
Ankrd27	A	T	7: 35,327,860 (GRCm39)	K793N	probably damaging	Het
Arhgef28	T	C	13: 98,211,714 (GRCm39)	T90A	probably damaging	Het
Armc9	A	T	1: 86,184,959 (GRCm39)	H670L	probably benign	Het
Arvcf	A	G	16: 18,217,736 (GRCm39)	Y412C	probably damaging	Het
Ass1	C	T	2: 31,400,185 (GRCm39)	T301M	probably damaging	Het
Baiap3	A	T	17: 25,468,082 (GRCm39)	C283S	probably damaging	Het
Birc6	C	T	17: 74,872,967 (GRCm39)	R409C	probably damaging	Het
Calcoco1	A	G	15: 102,619,527 (GRCm39)	L354P	probably damaging	Het
Cdh3	A	G	8: 107,263,458 (GRCm39)	N126S	probably benign	Het
Cfap54	A	C	10: 92,773,636 (GRCm39)	F135L	probably benign	Het
Dlg1	G	T	16: 31,503,113 (GRCm39)		probably null	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
Elapor2	T	A	5: 9,490,897 (GRCm39)	C636S	probably damaging	Het
Enpp2	T	C	15: 54,727,450 (GRCm39)	Y513C	probably damaging	Het
Ercc6	T	C	14: 32,292,020 (GRCm39)	V1128A	probably benign	Het
Firrm	T	C	1: 163,815,243 (GRCm39)	T93A	possibly damaging	Het
Gipc2	A	G	3: 151,799,885 (GRCm39)	F282L	probably benign	Het
Gm1043	T	G	5: 37,344,580 (GRCm39)	L231R	probably damaging	Het
Gpr153	T	A	4: 152,364,340 (GRCm39)	M132K	probably damaging	Het
Hbs1l	T	A	10: 21,230,546 (GRCm39)	S496T	probably damaging	Het
Inpp5f	A	G	7: 128,278,451 (GRCm39)		probably null	Het
Kat6a	G	A	8: 23,393,149 (GRCm39)	C209Y	probably damaging	Het
Kcna2	T	A	3: 107,011,953 (GRCm39)	V178D	probably damaging	Het
Krt75	A	G	15: 101,474,673 (GRCm39)		probably null	Het
Letm2	G	A	8: 26,083,980 (GRCm39)	Q84*	probably null	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
Muc6	A	G	7: 141,237,564 (GRCm39)	C218R	probably damaging	Het
Myof	A	T	19: 37,893,773 (GRCm39)	I1130N	possibly damaging	Het
Neil3	A	G	8: 54,054,076 (GRCm39)	S318P	possibly damaging	Het
Nhlh1	A	G	1: 171,881,467 (GRCm39)	V133A	probably benign	Het
Nup153	A	C	13: 46,863,268 (GRCm39)	S331A	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
Or9s23	T	A	1: 92,501,135 (GRCm39)	S81T	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pald1	A	T	10: 61,177,025 (GRCm39)	M675K	possibly damaging	Het
Pex5	A	G	6: 124,390,555 (GRCm39)	S97P	probably benign	Het
Pitpnm1	C	T	19: 4,161,140 (GRCm39)	A897V	probably benign	Het
Plxnd1	A	T	6: 115,942,862 (GRCm39)	V1274E	probably damaging	Het
Polr2a	T	C	11: 69,627,561 (GRCm39)		probably null	Het
Ppfia1	G	A	7: 144,068,210 (GRCm39)	Q446*	probably null	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
Rhbdl2	T	A	4: 123,711,710 (GRCm39)	L149*	probably null	Het
Rnf17	T	C	14: 56,743,385 (GRCm39)	V1317A	probably damaging	Het
Rtel1	G	A	2: 180,997,285 (GRCm39)	V1042M	probably benign	Het
Sidt2	A	T	9: 45,850,759 (GRCm39)		probably null	Het
Slc11a1	G	A	1: 74,424,343 (GRCm39)	A434T	probably damaging	Het
Slc28a2b	A	T	2: 122,324,854 (GRCm39)	N142I	possibly damaging	Het
Slc4a10	G	A	2: 62,097,915 (GRCm39)	R508H	probably benign	Het
Slf2	T	A	19: 44,923,692 (GRCm39)	S169T	possibly damaging	Het
Snx33	A	T	9: 56,833,475 (GRCm39)	I198N	probably damaging	Het
Spock3	A	G	8: 63,808,299 (GRCm39)	T396A	probably benign	Het
Sva	A	T	6: 42,015,351 (GRCm39)		probably benign	Het
Syt7	A	G	19: 10,416,601 (GRCm39)	N261S	probably benign	Het
Taar7b	T	G	10: 23,876,359 (GRCm39)	S175A	probably benign	Het
Thoc2	C	T	X: 40,895,570 (GRCm39)	E1491K	probably damaging	Het
Tlr1	T	C	5: 65,083,743 (GRCm39)	Y278C	probably benign	Het
Tph2	T	A	10: 114,987,079 (GRCm39)	Y237F	probably benign	Het
Trim35	C	T	14: 66,546,421 (GRCm39)		probably benign	Het
Trpm4	T	G	7: 44,959,893 (GRCm39)	Y667S	probably damaging	Het
Ttc27	T	A	17: 75,106,337 (GRCm39)	H541Q	probably damaging	Het
Ube4a	T	C	9: 44,851,387 (GRCm39)	H709R	probably damaging	Het
Vwa7	G	A	17: 35,243,166 (GRCm39)	V615I	probably benign	Het
Wars2	A	G	3: 99,094,849 (GRCm39)	H48R	probably 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

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
R5068: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'- CAGCAGACCTCCAAGGACTTTC -3'
(R):5'- TTAGAAGCCGCATGTCTCTATGG -3'

Sequencing Primer
(F):5'- AGACCTCCAAGGACTTTCTTATGGG -3'
(R):5'- ATGTCTCTATGGGGCACACAG -3'

Posted On

2016-06-06