Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01365:Slc5a8'

75921

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc5a8

Ensembl Gene

ENSMUSG00000020062

Gene Name

solute carrier family 5 (iodide transporter), member 8

Synonyms

SMCT

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01365

Quality Score

Status

Chromosome

Chromosomal Location

88721854-88765377 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 88727959 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000020255 (fasta)

Gene Model

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

AlphaFold

Q8BYF6

Predicted Effect

probably benign
Transcript: ENSMUST00000020255

SMART Domains

Protein: ENSMUSP00000020255
Gene: ENSMUSG00000020062

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

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb3	T	C	10: 85,469,680 (GRCm39)	V867A	possibly damaging	Het
Adgre5	G	T	8: 84,450,518 (GRCm39)		probably null	Het
Agtr1a	A	G	13: 30,565,811 (GRCm39)	Y292C	probably damaging	Het
CK137956	A	G	4: 127,845,135 (GRCm39)	S203P	probably benign	Het
Cnbd1	C	T	4: 18,860,576 (GRCm39)	G390D	probably damaging	Het
Cttnbp2nl	T	C	3: 104,912,346 (GRCm39)	T513A	probably damaging	Het
Dppa2	A	G	16: 48,134,276 (GRCm39)	K67R	possibly damaging	Het
Kif3a	A	G	11: 53,484,350 (GRCm39)	K486E	possibly damaging	Het
Lmnb2	G	T	10: 80,740,818 (GRCm39)	Q151K	probably benign	Het
Lmtk3	T	A	7: 45,440,331 (GRCm39)	L223Q	probably damaging	Het
Lrrk1	A	G	7: 65,937,449 (GRCm39)	I901T	probably damaging	Het
Macf1	T	C	4: 123,284,962 (GRCm39)	Y3624C	probably damaging	Het
Mios	T	A	6: 8,216,089 (GRCm39)	Y428*	probably null	Het
Myb	A	G	10: 21,028,401 (GRCm39)	I154T	probably benign	Het
Or14a256	T	C	7: 86,265,205 (GRCm39)	Y216C	probably damaging	Het
Parp9	C	T	16: 35,768,324 (GRCm39)	T168I	possibly damaging	Het
Pramel7	T	C	2: 87,321,757 (GRCm39)		probably benign	Het
Ptar1	T	A	19: 23,683,165 (GRCm39)	W140R	probably damaging	Het
Sec14l2	G	T	11: 4,048,317 (GRCm39)	D400E	probably benign	Het
Setd3	A	T	12: 108,124,165 (GRCm39)	Y175N	probably damaging	Het
Slc8a3	A	G	12: 81,362,150 (GRCm39)	V223A	probably damaging	Het
Srsf1	G	T	11: 87,940,007 (GRCm39)	R173L	possibly damaging	Het
Svep1	T	A	4: 58,100,878 (GRCm39)		probably null	Het
Tead2	T	A	7: 44,866,675 (GRCm39)	D11E	probably damaging	Het
Trappc12	T	A	12: 28,797,401 (GRCm39)	I44F	probably damaging	Het
Ttll9	T	C	2: 152,842,054 (GRCm39)	Y303H	possibly damaging	Het
Vmn1r28	T	A	6: 58,242,176 (GRCm39)	N6K	possibly damaging	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
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
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

Posted On

2013-10-07