Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01571:Slc5a5'

93317

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc5a5

Ensembl Gene

ENSMUSG00000000792

Gene Name

solute carrier family 5 (sodium iodide symporter), member 5

Synonyms

NIS

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01571

Quality Score

Status

Chromosome

Chromosomal Location

70882889-70892757 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 70891332 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148281 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000809] [ENSMUST00000054220] [ENSMUST00000212129] [ENSMUST00000212378] [ENSMUST00000212494] [ENSMUST00000212709] [ENSMUST00000212796] [ENSMUST00000213053]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000000809

SMART Domains

Protein: ENSMUSP00000000809
Gene: ENSMUSG00000000792

Domain	Start	End	E-Value	Type
Pfam:SSF	47	452	2.5e-43	PFAM
transmembrane domain	522	544	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000054220

SMART Domains

Protein: ENSMUSP00000058368
Gene: ENSMUSG00000045128

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L18ae	7	130	1.4e-59	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104375

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184412

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212019

Predicted Effect

probably benign
Transcript: ENSMUST00000212129

Predicted Effect

probably benign
Transcript: ENSMUST00000212378

Predicted Effect

probably benign
Transcript: ENSMUST00000212494

Predicted Effect

probably benign
Transcript: ENSMUST00000212709

Predicted Effect

probably benign
Transcript: ENSMUST00000212796

Predicted Effect

probably benign
Transcript: ENSMUST00000213053

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sodium glucose cotransporter family. The encoded protein is responsible for the uptake of iodine in tissues such as the thyroid and lactating breast tissue. The iodine taken up by the thyroid is incorporated into the metabolic regulators triiodothyronine (T3) and tetraiodothyronine (T4). Mutations in this gene are associated with thyroid dyshormonogenesis 1.[provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced T3 and T4 levels when fed a minimal iodine diet. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AB124611	T	A	9: 21,539,081		probably benign	Het
Cep164	T	C	9: 45,794,338	Q127R	possibly damaging	Het
Ces1f	T	A	8: 93,258,368	M444L	probably benign	Het
Chd5	T	A	4: 152,384,115		probably benign	Het
Cpd	T	A	11: 76,782,296	Y1341F	probably damaging	Het
Cryz	T	C	3: 154,621,743	I268T	probably damaging	Het
Csnk2a1	G	A	2: 152,275,406	R278H	probably damaging	Het
Cyp4a12b	A	G	4: 115,438,157	I487V	probably benign	Het
Dnajb5	T	C	4: 42,956,516		probably benign	Het
Dxo	A	T	17: 34,839,040	H214L	probably damaging	Het
Etfb	T	C	7: 43,452,959		probably null	Het
G6pc2	G	A	2: 69,222,967	V122I	probably damaging	Het
Gm5431	A	T	11: 48,894,713	D278E	probably benign	Het
Gstt2	C	T	10: 75,834,171		probably benign	Het
Hnf4g	A	C	3: 3,651,266		probably benign	Het
Ifi44	T	C	3: 151,745,537	D259G	probably damaging	Het
Klk1	T	C	7: 44,228,596	V92A	probably damaging	Het
Lypla1	T	C	1: 4,844,988	I222T	probably benign	Het
Nbeal2	T	C	9: 110,632,758	N1510D	possibly damaging	Het
Ndufaf7	A	G	17: 78,943,852	R229G	probably damaging	Het
Nphp4	G	A	4: 152,556,382	V1069M	probably benign	Het
Nsd2	A	G	5: 33,864,687	H528R	probably benign	Het
Olfr1298	C	A	2: 111,645,380	V206L	probably benign	Het
Olfr1355	A	G	10: 78,879,837	I222V	possibly damaging	Het
Olfr763	A	T	10: 129,011,827	I181F	probably damaging	Het
Pigh	A	C	12: 79,085,860		probably benign	Het
Prr14l	A	T	5: 32,828,806	M1115K	probably benign	Het
Psg21	T	C	7: 18,654,825	D114G	probably damaging	Het
Psmg2	G	A	18: 67,653,223	V218I	probably benign	Het
Pygb	T	C	2: 150,830,473	S831P	probably benign	Het
Ryr2	T	A	13: 11,721,761	D2260V	probably damaging	Het
Sgo2a	T	C	1: 58,017,974	S1106P	probably damaging	Het
Tekt4	A	G	17: 25,476,384	D397G	probably benign	Het
Trrap	T	A	5: 144,833,287		probably benign	Het
Upf2	T	C	2: 6,018,939		probably benign	Het
Usp17lb	A	T	7: 104,840,381	N445K	possibly damaging	Het
Vmn2r111	A	G	17: 22,571,392	V211A	probably damaging	Het
Vmn2r23	A	G	6: 123,704,407	I91M	probably damaging	Het
Vps13b	C	T	15: 35,877,489		probably benign	Het
Zc3hc1	G	A	6: 30,390,863	T47I	probably benign	Het

Other mutations in Slc5a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00766:Slc5a5	APN	8	70888537	missense	probably damaging	0.99
IGL01372:Slc5a5	APN	8	70890376	unclassified	probably benign
IGL01394:Slc5a5	APN	8	70889388	nonsense	probably null
IGL02043:Slc5a5	APN	8	70892429	missense	possibly damaging	0.84
IGL02186:Slc5a5	APN	8	70886120	missense	possibly damaging	0.79
IGL02479:Slc5a5	APN	8	70888911	missense	possibly damaging	0.67
IGL02559:Slc5a5	APN	8	70890271	missense	probably damaging	1.00
IGL02892:Slc5a5	APN	8	70892517	missense	probably damaging	1.00
IGL03388:Slc5a5	APN	8	70890328	missense	probably benign	0.45
R0234:Slc5a5	UTSW	8	70889633	missense	probably damaging	1.00
R0234:Slc5a5	UTSW	8	70889633	missense	probably damaging	1.00
R0413:Slc5a5	UTSW	8	70891675	missense	possibly damaging	0.63
R0662:Slc5a5	UTSW	8	70883875	missense	probably benign	0.01
R0781:Slc5a5	UTSW	8	70890220	missense	probably benign	0.19
R1061:Slc5a5	UTSW	8	70890221	missense	probably benign	0.00
R1400:Slc5a5	UTSW	8	70889435	missense	possibly damaging	0.87
R1524:Slc5a5	UTSW	8	70892334	missense	probably damaging	1.00
R2033:Slc5a5	UTSW	8	70888587	missense	probably damaging	0.99
R2072:Slc5a5	UTSW	8	70892439	missense	possibly damaging	0.95
R2075:Slc5a5	UTSW	8	70892439	missense	possibly damaging	0.95
R2110:Slc5a5	UTSW	8	70889751	splice site	probably null
R2111:Slc5a5	UTSW	8	70889751	splice site	probably null
R2112:Slc5a5	UTSW	8	70889751	splice site	probably null
R2201:Slc5a5	UTSW	8	70892458	missense	probably damaging	0.98
R3978:Slc5a5	UTSW	8	70889395	missense	probably benign	0.00
R4244:Slc5a5	UTSW	8	70890286	missense	probably benign
R5161:Slc5a5	UTSW	8	70888848	missense	probably damaging	1.00
R5397:Slc5a5	UTSW	8	70891179	missense	probably damaging	1.00
R5718:Slc5a5	UTSW	8	70887755	missense	probably benign	0.00
R5740:Slc5a5	UTSW	8	70888917	splice site	probably null
R5869:Slc5a5	UTSW	8	70892330	missense	probably damaging	1.00
R6268:Slc5a5	UTSW	8	70888620	missense	probably damaging	1.00
R6290:Slc5a5	UTSW	8	70891178	missense	probably damaging	1.00
R6292:Slc5a5	UTSW	8	70891178	missense	probably damaging	1.00
R7098:Slc5a5	UTSW	8	70888538	missense	probably damaging	0.99
R7354:Slc5a5	UTSW	8	70889603	missense	probably damaging	1.00
R8777:Slc5a5	UTSW	8	70891290	missense	possibly damaging	0.87
R8777-TAIL:Slc5a5	UTSW	8	70891290	missense	possibly damaging	0.87
R8903:Slc5a5	UTSW	8	70892583	missense	probably damaging	1.00

Posted On

2013-12-09