Mutagenetix > Incidental Mutation

Incidental Mutation 'R5070:Slc5a8'

388668

Institutional Source

Beutler Lab

Gene Symbol

Slc5a8

Ensembl Gene

ENSMUSG00000020062

Gene Name

solute carrier family 5 (iodide transporter), member 8

Synonyms

SMCT

MMRRC Submission

042660-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5070 (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: 96.6%
20x: 93.0%

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: 114 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,383,749 (GRCm39)	S739P	possibly damaging	Het
Acacb	T	C	5: 114,384,089 (GRCm39)	I2206T	possibly damaging	Het
Actn2	A	G	13: 12,303,408 (GRCm39)	I464T	possibly damaging	Het
AI987944	C	T	7: 41,024,748 (GRCm39)	G77D	probably benign	Het
Ankar	T	C	1: 72,719,369 (GRCm39)		probably null	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
Baiap3	A	T	17: 25,468,082 (GRCm39)	C283S	probably damaging	Het
Bend3	A	T	10: 43,369,681 (GRCm39)	E11D	probably damaging	Het
Birc6	C	T	17: 74,872,967 (GRCm39)	R409C	probably damaging	Het
Cds2	T	A	2: 132,144,008 (GRCm39)	Y4*	probably null	Het
Celsr1	G	T	15: 85,823,335 (GRCm39)	P1691Q	possibly damaging	Het
Chmp1a	A	T	8: 123,933,054 (GRCm39)	V133E	probably benign	Het
Cnbd2	T	C	2: 156,177,318 (GRCm39)	V92A	probably damaging	Het
Comp	G	A	8: 70,829,145 (GRCm39)	G272S	probably benign	Het
Csnk1a1	T	A	18: 61,688,852 (GRCm39)	F11I	probably benign	Het
Ctse	A	G	1: 131,595,917 (GRCm39)	D203G	probably damaging	Het
Cyp1b1	T	A	17: 80,018,040 (GRCm39)	M372L	probably benign	Het
Cyp2c66	T	A	19: 39,151,914 (GRCm39)	S210T	probably benign	Het
Dnah1	G	A	14: 31,004,375 (GRCm39)	P2385S	probably benign	Het
Dsp	A	C	13: 38,381,099 (GRCm39)	T2615P	possibly damaging	Het
Eif4g3	A	G	4: 137,873,610 (GRCm39)	T682A	probably benign	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
Fam136b-ps	C	T	15: 31,276,862 (GRCm39)		probably benign	Het
Fbxl7	T	A	15: 26,789,640 (GRCm39)	H29L	probably benign	Het
Fbxw22	A	G	9: 109,214,183 (GRCm39)	V211A	probably benign	Het
Frk	A	T	10: 34,360,280 (GRCm39)	K94*	probably null	Het
G0s2	T	A	1: 192,954,870 (GRCm39)	E71D	probably damaging	Het
Gfpt1	A	G	6: 87,030,727 (GRCm39)		probably null	Het
Gga1	A	G	15: 78,776,217 (GRCm39)	D420G	possibly damaging	Het
Gldc	T	C	19: 30,095,998 (GRCm39)	Q671R	possibly damaging	Het
Gpc6	A	G	14: 117,424,181 (GRCm39)	T90A	probably benign	Het
Gucy2g	C	A	19: 55,218,219 (GRCm39)	V410F	probably damaging	Het
Ifnlr1	T	C	4: 135,431,509 (GRCm39)	S233P	probably benign	Het
Ighv1-9	A	T	12: 114,547,377 (GRCm39)	W55R	probably damaging	Het
Igsf10	T	A	3: 59,235,714 (GRCm39)	H1489L	probably benign	Het
Il17re	T	C	6: 113,435,971 (GRCm39)	L39P	probably damaging	Het
Irag1	A	G	7: 110,524,519 (GRCm39)	S208P	probably benign	Het
Kcna2	T	A	3: 107,011,953 (GRCm39)	V178D	probably damaging	Het
Kcnk3	A	G	5: 30,779,730 (GRCm39)	H260R	possibly damaging	Het
Kctd19	T	C	8: 106,118,631 (GRCm39)	Y287C	probably damaging	Het
Klhl28	A	T	12: 65,004,486 (GRCm39)	M9K	probably benign	Het
Lama2	A	G	10: 27,226,247 (GRCm39)		probably null	Het
Lrrc27	A	T	7: 138,794,715 (GRCm39)	D26V	probably damaging	Het
Mcm4	A	G	16: 15,443,434 (GRCm39)	S830P	probably damaging	Het
Mei1	T	A	15: 81,961,804 (GRCm39)	C188S	possibly damaging	Het
Mettl13	C	T	1: 162,373,468 (GRCm39)	R261H	possibly damaging	Het
Mex3a	A	T	3: 88,443,694 (GRCm39)	I257F	probably damaging	Het
Mib1	A	G	18: 10,793,002 (GRCm39)	E646G	probably damaging	Het
Mier2	T	C	10: 79,385,411 (GRCm39)	D139G	probably benign	Het
Mmp14	T	A	14: 54,676,570 (GRCm39)	Y372N	probably damaging	Het
Myh14	A	G	7: 44,265,672 (GRCm39)	V1569A	possibly damaging	Het
Myo18b	T	C	5: 112,909,212 (GRCm39)	E1977G	probably damaging	Het
Myo3b	T	C	2: 70,083,456 (GRCm39)	L675P	probably damaging	Het
N4bp1	A	G	8: 87,587,165 (GRCm39)	V591A	probably damaging	Het
Nedd9	C	A	13: 41,470,074 (GRCm39)	V360L	probably benign	Het
Oit3	C	T	10: 59,259,849 (GRCm39)	R518H	probably damaging	Het
Or10ag57	T	G	2: 87,218,507 (GRCm39)	C153G	probably damaging	Het
Or11g2	A	G	14: 50,855,931 (GRCm39)	N84S	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
Or1j14	T	A	2: 36,417,778 (GRCm39)	M118K	probably damaging	Het
Or2aj6	A	G	16: 19,443,742 (GRCm39)	I36T	possibly damaging	Het
Or2j6	A	G	7: 139,980,482 (GRCm39)	V159A	probably benign	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
Pask	A	T	1: 93,258,596 (GRCm39)	C251S	probably damaging	Het
Pdzk1	A	T	3: 96,757,637 (GRCm39)	D31V	probably benign	Het
Pmfbp1	A	T	8: 110,256,787 (GRCm39)	Q497L	probably damaging	Het
Pofut1	T	C	2: 153,103,486 (GRCm39)		probably benign	Het
Polr2h	A	G	16: 20,540,716 (GRCm39)	N95S	probably damaging	Het
Pou2f3	A	G	9: 43,056,578 (GRCm39)	V93A	possibly damaging	Het
Ppfia1	G	A	7: 144,068,210 (GRCm39)	Q446*	probably null	Het
Prkd1	A	T	12: 50,441,405 (GRCm39)	L327*	probably null	Het
Prrt4	T	C	6: 29,177,511 (GRCm39)	E86G	probably benign	Het
Psen2	T	C	1: 180,056,422 (GRCm39)	I393V	probably benign	Het
Psma2	G	A	13: 14,790,613 (GRCm39)	V20I	probably benign	Het
Qser1	C	T	2: 104,617,627 (GRCm39)	V1062I	possibly damaging	Het
Rab11b	G	T	17: 33,967,855 (GRCm39)	A114D	probably damaging	Het
Rag1	A	T	2: 101,472,656 (GRCm39)	W829R	probably damaging	Het
Rgl3	A	G	9: 21,899,340 (GRCm39)		probably null	Het
Rgs8	C	T	1: 153,541,650 (GRCm39)	T3I	probably damaging	Het
Rnf17	T	C	14: 56,743,385 (GRCm39)	V1317A	probably damaging	Het
Rps6kb2	A	T	19: 4,213,227 (GRCm39)	D6E	probably damaging	Het
Shisal1	G	T	15: 84,304,364 (GRCm39)	A14E	possibly damaging	Het
Skint5	T	A	4: 113,652,735 (GRCm39)	I630F	unknown	Het
Skint7	T	C	4: 111,841,331 (GRCm39)	L257P	probably damaging	Het
Slc11a1	G	A	1: 74,424,343 (GRCm39)	A434T	probably damaging	Het
Sorl1	T	C	9: 41,943,114 (GRCm39)	K921E	possibly damaging	Het
Stub1	A	G	17: 26,051,112 (GRCm39)	L90P	probably damaging	Het
Sycp1	A	T	3: 102,827,881 (GRCm39)	S289T	probably damaging	Het
Taar7b	T	G	10: 23,876,359 (GRCm39)	S175A	probably benign	Het
Tead3	T	C	17: 28,560,451 (GRCm39)	K51R	probably benign	Het
Tmed11	T	A	5: 108,943,089 (GRCm39)	I30L	probably benign	Het
Tmem131	A	G	1: 36,893,986 (GRCm39)	I139T	probably damaging	Het
Tmem191	A	G	16: 17,095,559 (GRCm39)	Q206R	probably null	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
Uqcrq	A	G	11: 53,320,954 (GRCm39)		probably null	Het
Vmn1r215	T	A	13: 23,260,666 (GRCm39)	S235R	probably benign	Het
Vmn1r70	T	C	7: 10,368,325 (GRCm39)	V271A	probably benign	Het
Vps13a	G	A	19: 16,631,848 (GRCm39)	R2596C	probably benign	Het
Vwa7	G	A	17: 35,243,166 (GRCm39)	V615I	probably benign	Het
Wdr90	T	C	17: 26,065,307 (GRCm39)	T1650A	probably damaging	Het
Zbtb32	T	A	7: 30,290,891 (GRCm39)	M135L	probably benign	Het
Zc2hc1c	A	G	12: 85,337,288 (GRCm39)	D315G	probably benign	Het
Zfc3h1	T	A	10: 115,254,688 (GRCm39)	C1427*	probably null	Het
Zfp30	A	G	7: 29,485,691 (GRCm39)		probably benign	Het
Zfp428	T	A	7: 24,214,550 (GRCm39)	D55E	probably damaging	Het
Zfyve26	A	T	12: 79,302,135 (GRCm39)	N1820K	probably damaging	Het
Zw10	C	A	9: 48,988,759 (GRCm39)	S675*	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
R5069: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'- GACCTCCAAGGACTTTCTTATGGG -3'
(R):5'- TCCTCTTAGAAGCCGCATGTC -3'

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

Posted On

2016-06-06