Mutagenetix > Incidental Mutation

Incidental Mutation 'R7526:Slc5a8'

583010

Institutional Source

Beutler Lab

Gene Symbol

Slc5a8

Ensembl Gene

ENSMUSG00000020062

Gene Name

solute carrier family 5 (iodide transporter), member 8

Synonyms

SMCT

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7526 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88885992-88929515 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88902491 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 205 (I205M)

Ref Sequence

ENSEMBL: ENSMUSP00000020255 (fasta)

Gene Model

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

AlphaFold

Q8BYF6

Predicted Effect

probably damaging
Transcript: ENSMUST00000020255
AA Change: I205M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020255
Gene: ENSMUSG00000020062
AA Change: I205M

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (74/74)

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700086D15Rik	A	T	11: 65,152,981	F85I	unknown	Het
Ankrd22	A	T	19: 34,149,365	W22R	possibly damaging	Het
Aqr	A	T	2: 114,108,109	H1287Q	probably damaging	Het
Armh1	C	A	4: 117,213,741	A396S	probably benign	Het
Atp8b5	A	G	4: 43,366,609	E791G	probably damaging	Het
Bicd1	T	G	6: 149,513,726	S646A	possibly damaging	Het
Bmpr1b	A	T	3: 141,856,599	Y276N	probably damaging	Het
Cadps2	T	C	6: 23,496,851	H465R	probably damaging	Het
Card11	A	T	5: 140,913,429		probably null	Het
Ccdc9	A	G	7: 16,282,400	L139P	probably damaging	Het
Cdk5rap3	A	T	11: 96,909,945	M355K	probably benign	Het
Cnot2	A	T	10: 116,507,080	V116E	probably benign	Het
Defb48	A	G	14: 62,977,831	V32A	possibly damaging	Het
Dmkn	A	G	7: 30,777,651	D460G	possibly damaging	Het
Dmxl2	A	G	9: 54,400,957	V2170A	possibly damaging	Het
Dnah1	A	T	14: 31,287,876	F1912I	possibly damaging	Het
Dok3	C	T	13: 55,527,493	V71I	probably benign	Het
Dzip3	A	T	16: 48,975,474	F178Y	probably damaging	Het
Enpp1	T	C	10: 24,674,410		probably null	Het
Eogt	A	G	6: 97,113,952	F409L	probably damaging	Het
Erich6	A	T	3: 58,630,689	L218H	probably damaging	Het
Fam186a	G	C	15: 99,941,915	I2149M	possibly damaging	Het
Fat1	G	A	8: 45,023,427	V1837I	probably damaging	Het
Flrt3	T	A	2: 140,660,206	T501S	probably damaging	Het
Fmn1	A	C	2: 113,688,134	E1365D	probably damaging	Het
Fzd5	G	T	1: 64,736,092	P170Q	probably benign	Het
Gm13101	A	T	4: 143,965,817	C205S	probably benign	Het
Gm14326	G	A	2: 177,946,505	H233Y	probably damaging	Het
Gm19410	G	A	8: 35,790,612	V735M	probably damaging	Het
Gm21886	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	18: 80,089,825		probably benign	Het
Gm2832	A	T	14: 41,280,962	I143L		Het
Gm7534	T	C	4: 134,200,073		probably null	Het
Greb1	G	A	12: 16,716,765	T344I	probably benign	Het
Grik2	A	T	10: 49,523,822	Y271N	possibly damaging	Het
Grin3b	A	G	10: 79,973,051	N212D	probably benign	Het
Hgsnat	A	G	8: 25,971,049	L187P	probably damaging	Het
Hmcn1	A	G	1: 150,656,573	I3152T	probably damaging	Het
Hsp90aa1	A	T	12: 110,695,294	I96N	unknown	Het
Il18r1	T	A	1: 40,471,772	L6I	probably damaging	Het
Ing3	G	A	6: 21,953,799	V80I	probably damaging	Het
Kif18b	T	C	11: 102,914,667	I255V	probably damaging	Het
Kif2c	A	T	4: 117,182,432	N20K	possibly damaging	Het
Mfsd6l	T	C	11: 68,558,038	W572R	probably damaging	Het
Mybphl	A	G	3: 108,374,180	T71A	probably benign	Het
Myo7a	G	T	7: 98,085,448	T613K	possibly damaging	Het
Nfatc3	T	C	8: 106,079,083	S195P	probably damaging	Het
Nrg1	T	C	8: 31,818,323	N603S	probably benign	Het
Olfr1054	A	T	2: 86,333,353	M1K	probably null	Het
Olfr1084	A	G	2: 86,639,669	I13T	possibly damaging	Het
Olfr629	T	C	7: 103,740,400	Y280C	probably damaging	Het
Parp8	T	C	13: 116,894,805	E457G	probably damaging	Het
Pclo	T	C	5: 14,521,062	F154L	probably benign	Het
Pear1	A	G	3: 87,752,568	S704P	probably damaging	Het
Pkib	A	G	10: 57,736,298	T92A	probably benign	Het
Pnpla7	A	G	2: 24,998,666	R376G	possibly damaging	Het
Ptprd	T	A	4: 76,066,327	E527D	probably benign	Het
Pum1	T	C	4: 130,747,026	V469A	probably damaging	Het
Rnf148	G	A	6: 23,654,284	Q238*	probably null	Het
Scn9a	A	C	2: 66,483,646	N1909K	probably benign	Het
Sema3c	A	T	5: 17,727,596	H699L	possibly damaging	Het
Sema3f	A	T	9: 107,689,728	C201S	probably damaging	Het
Serinc2	T	A	4: 130,258,790	D206V	probably benign	Het
Serping1	A	T	2: 84,767,293	S415T	probably benign	Het
Sirpb1b	A	T	3: 15,548,872	L50Q	probably damaging	Het
Slc25a22	T	C	7: 141,431,383	E262G	probably benign	Het
Sod2	G	T	17: 13,008,031		probably benign	Het
Tec	T	C	5: 72,786,019	I118V	probably benign	Het
Tenm3	A	T	8: 48,287,812	V1212E	probably damaging	Het
Tex44	G	A	1: 86,426,515	V49I	probably benign	Het
Tmem132d	A	T	5: 127,784,141	L972*	probably null	Het
Tpte	G	A	8: 22,325,547		probably null	Het
Trim6	T	A	7: 104,232,832	I456N	probably damaging	Het
Ubr4	G	C	4: 139,422,417	V520L	probably benign	Het
Ubxn8	A	T	8: 33,633,607	N101K	probably benign	Het
Vmn2r60	AG	A	7: 42,195,734		probably null	Het
Vmn2r83	A	G	10: 79,491,558	T667A	probably damaging	Het

Other mutations in Slc5a8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00507:Slc5a8	APN	10	88908040	missense	possibly damaging	0.91
IGL00902:Slc5a8	APN	10	88919461	missense	probably benign	0.03
IGL00960:Slc5a8	APN	10	88921765	missense	probably benign	0.21
IGL01109:Slc5a8	APN	10	88906392	missense	possibly damaging	0.95
IGL01365:Slc5a8	APN	10	88892097	splice site	probably benign
IGL01418:Slc5a8	APN	10	88905033	missense	probably damaging	1.00
IGL01823:Slc5a8	APN	10	88919472	nonsense	probably null
IGL02116:Slc5a8	APN	10	88919500	missense	probably benign
IGL03109:Slc5a8	APN	10	88906416	splice site	probably benign
PIT4585001:Slc5a8	UTSW	10	88886503	missense	probably damaging	1.00
R0010:Slc5a8	UTSW	10	88886590	missense	probably benign	0.03
R0418:Slc5a8	UTSW	10	88886558	missense	probably benign	0.01
R1233:Slc5a8	UTSW	10	88918442	missense	probably damaging	1.00
R1656:Slc5a8	UTSW	10	88925786	critical splice donor site	probably null
R1769:Slc5a8	UTSW	10	88919464	missense	probably benign
R1769:Slc5a8	UTSW	10	88919466	nonsense	probably null
R2870:Slc5a8	UTSW	10	88904963	missense	probably benign	0.01
R2870:Slc5a8	UTSW	10	88904963	missense	probably benign	0.01
R2873:Slc5a8	UTSW	10	88904963	missense	probably benign	0.01
R3883:Slc5a8	UTSW	10	88902463	missense	possibly damaging	0.89
R4207:Slc5a8	UTSW	10	88911413	missense	probably damaging	1.00
R4731:Slc5a8	UTSW	10	88925787	critical splice donor site	probably null
R4880:Slc5a8	UTSW	10	88892024	missense	probably damaging	1.00
R4969:Slc5a8	UTSW	10	88904912	splice site	probably null
R4998:Slc5a8	UTSW	10	88908057	critical splice donor site	probably null
R5009:Slc5a8	UTSW	10	88909654	missense	probably benign	0.07
R5068:Slc5a8	UTSW	10	88886598	missense	possibly damaging	0.82
R5069:Slc5a8	UTSW	10	88886598	missense	possibly damaging	0.82
R5070:Slc5a8	UTSW	10	88886598	missense	possibly damaging	0.82
R5130:Slc5a8	UTSW	10	88926215	missense	probably benign
R5141:Slc5a8	UTSW	10	88919560	critical splice donor site	probably null
R5252:Slc5a8	UTSW	10	88906347	missense	probably damaging	1.00
R5659:Slc5a8	UTSW	10	88919428	missense	possibly damaging	0.89
R5660:Slc5a8	UTSW	10	88919428	missense	possibly damaging	0.89
R5661:Slc5a8	UTSW	10	88919428	missense	possibly damaging	0.89
R6039:Slc5a8	UTSW	10	88886574	missense	probably benign	0.00
R6039:Slc5a8	UTSW	10	88886574	missense	probably benign	0.00
R6378:Slc5a8	UTSW	10	88905054	missense	probably damaging	1.00
R7214:Slc5a8	UTSW	10	88919502	missense	probably benign
R7255:Slc5a8	UTSW	10	88909631	missense	probably damaging	1.00
R7604:Slc5a8	UTSW	10	88904960	missense	possibly damaging	0.78
R7688:Slc5a8	UTSW	10	88921699	missense	probably damaging	1.00
R7869:Slc5a8	UTSW	10	88921705	missense	probably benign	0.15
R8219:Slc5a8	UTSW	10	88921699	missense	probably damaging	1.00
R8474:Slc5a8	UTSW	10	88921690	missense	possibly damaging	0.69
R8937:Slc5a8	UTSW	10	88905023	missense	probably damaging	1.00
R8960:Slc5a8	UTSW	10	88886173	start gained	probably benign
R9000:Slc5a8	UTSW	10	88926227	missense	probably benign	0.00
R9000:Slc5a8	UTSW	10	88926228	missense	probably benign	0.13
R9792:Slc5a8	UTSW	10	88921729	missense	possibly damaging	0.55
R9795:Slc5a8	UTSW	10	88921729	missense	possibly damaging	0.55
Z1177:Slc5a8	UTSW	10	88909613	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCATCTCCTTCGAGGGAAC -3'
(R):5'- TGCCCACTTTAATTTTACAGACCAC -3'

Sequencing Primer
(F):5'- TTCGAGGGAACTTCTTGACCAAAC -3'
(R):5'- CAGACCACATCATTAGTGACTTATTG -3'

Posted On

2019-10-17