Mutagenetix > Incidental Mutation

Incidental Mutation 'R2110:Slc5a5'

266076

Institutional Source

Beutler Lab

Gene Symbol

Slc5a5

Ensembl Gene

ENSMUSG00000000792

Gene Name

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

Synonyms

NIS

MMRRC Submission

040114-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2110 (G1)

Quality Score

149

Status

Not validated

Chromosome

Chromosomal Location

71335533-71345401 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 71342395 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000000809 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000809] [ENSMUST00000054220]

AlphaFold

no structure available at present

Predicted Effect

probably null
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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330161L09Rik	T	C	12: 103,373,848 (GRCm39)		probably benign	Het
Ablim1	T	C	19: 57,032,245 (GRCm39)	D638G	possibly damaging	Het
Adam1b	A	G	5: 121,638,777 (GRCm39)		probably benign	Het
Aim2	T	C	1: 173,287,279 (GRCm39)	M93T	probably benign	Het
Alpk2	T	C	18: 65,440,151 (GRCm39)	E414G	possibly damaging	Het
Ap1b1	T	C	11: 4,965,613 (GRCm39)	F51L	probably damaging	Het
Bard1	T	A	1: 71,114,550 (GRCm39)	K144*	probably null	Het
Begain	G	T	12: 108,999,843 (GRCm39)	Y514*	probably null	Het
Ccdc186	A	T	19: 56,788,574 (GRCm39)	I545N	possibly damaging	Het
Cfap251	G	A	5: 123,392,438 (GRCm39)		probably benign	Het
Cfap43	T	C	19: 47,824,197 (GRCm39)	Y58C	probably damaging	Het
Cfap54	A	T	10: 92,722,229 (GRCm39)	D2437E	unknown	Het
Chd2	A	G	7: 73,079,735 (GRCm39)	S1722P	probably benign	Het
Clec5a	C	T	6: 40,562,137 (GRCm39)	G9E	probably damaging	Het
Cog4	A	G	8: 111,585,214 (GRCm39)	Y292C	possibly damaging	Het
Col3a1	C	T	1: 45,369,305 (GRCm39)	P331S	unknown	Het
Ctsk	T	C	3: 95,413,988 (GRCm39)	I245T	probably benign	Het
Dthd1	T	C	5: 62,979,251 (GRCm39)	Y304H	probably damaging	Het
Dthd1	T	C	5: 63,000,222 (GRCm39)	S515P	probably damaging	Het
Dtx2	C	T	5: 136,059,431 (GRCm39)	S493F	probably damaging	Het
Eci2	A	G	13: 35,174,699 (GRCm39)		probably null	Het
Ecm1	C	T	3: 95,643,254 (GRCm39)	A349T	probably benign	Het
Efemp2	A	G	19: 5,525,190 (GRCm39)	E32G	probably damaging	Het
Flt4	C	A	11: 49,516,131 (GRCm39)	T78K	probably benign	Het
Foxg1	A	G	12: 49,431,708 (GRCm39)		probably benign	Het
Fv1	T	C	4: 147,954,619 (GRCm39)	V395A	possibly damaging	Het
Gcfc2	C	A	6: 81,900,759 (GRCm39)	D24E	probably benign	Het
Gpha2	T	G	19: 6,277,532 (GRCm39)	V96G	probably damaging	Het
Gse1	A	G	8: 121,293,719 (GRCm39)	Y228C	probably damaging	Het
Hmgxb3	T	C	18: 61,288,458 (GRCm39)	R470G	possibly damaging	Het
Ildr1	A	G	16: 36,542,341 (GRCm39)	E247G	probably damaging	Het
Ktn1	T	A	14: 47,931,345 (GRCm39)	M646K	possibly damaging	Het
Lrrc37a	T	A	11: 103,388,648 (GRCm39)	H2259L	unknown	Het
Map1b	A	T	13: 99,567,629 (GRCm39)	H1697Q	unknown	Het
Mdn1	A	G	4: 32,700,409 (GRCm39)	E1456G	probably damaging	Het
Mta1	C	T	12: 113,095,248 (GRCm39)	T467I	probably damaging	Het
Nav1	C	T	1: 135,376,742 (GRCm39)	R1694Q	probably damaging	Het
Ncoa5	C	A	2: 164,854,838 (GRCm39)	D95Y	possibly damaging	Het
Nfatc1	A	T	18: 80,678,879 (GRCm39)	C836*	probably null	Het
Nr3c2	T	C	8: 77,635,156 (GRCm39)	S86P	possibly damaging	Het
Nup153	A	G	13: 46,837,404 (GRCm39)	S1273P	probably benign	Het
Or8g52	G	A	9: 39,631,018 (GRCm39)	R165Q	probably benign	Het
Pcsk5	C	A	19: 17,450,423 (GRCm39)	G1142C	probably damaging	Het
Pgghg	A	G	7: 140,523,453 (GRCm39)	D244G	possibly damaging	Het
Polr1has	T	C	17: 37,276,336 (GRCm39)	V306A	possibly damaging	Het
Ppargc1b	G	A	18: 61,444,321 (GRCm39)	P297S	probably benign	Het
Rad52	A	T	6: 119,897,855 (GRCm39)	Q356L	possibly damaging	Het
Rhpn1	T	A	15: 75,585,083 (GRCm39)	F507I	probably damaging	Het
Rhpn2	T	C	7: 35,076,433 (GRCm39)	M328T	probably benign	Het
Rnf19a	T	C	15: 36,254,665 (GRCm39)	I298V	possibly damaging	Het
Rwdd2a	T	C	9: 86,456,184 (GRCm39)	V120A	probably benign	Het
Scml2	G	T	X: 160,014,442 (GRCm39)	E566D	possibly damaging	Het
Serpina3a	G	A	12: 104,082,481 (GRCm39)	A85T	probably damaging	Het
Slc16a11	G	A	11: 70,106,146 (GRCm39)	G80D	probably damaging	Het
Sparcl1	T	A	5: 104,236,289 (GRCm39)	Q488L	probably damaging	Het
Spg21	T	A	9: 65,391,711 (GRCm39)		probably null	Het
Spopfm2	A	G	3: 94,082,834 (GRCm39)	S326P	probably damaging	Het
Sry	T	C	Y: 2,662,901 (GRCm39)	H253R	unknown	Het
Swt1	A	G	1: 151,279,636 (GRCm39)	S391P	probably damaging	Het
Uhrf2	A	G	19: 30,033,888 (GRCm39)	Y200C	probably damaging	Het
Utp15	T	C	13: 98,391,493 (GRCm39)	H248R	probably damaging	Het
Utp20	A	G	10: 88,603,313 (GRCm39)		probably null	Het
Vcan	T	A	13: 89,841,422 (GRCm39)	D414V	probably damaging	Het
Vmn1r56	A	T	7: 5,199,179 (GRCm39)	M146K	probably damaging	Het
Zfp143	A	T	7: 109,685,453 (GRCm39)	K399N	probably damaging	Het
Zfp516	A	G	18: 82,975,536 (GRCm39)	D578G	probably damaging	Het
Zfp90	G	A	8: 107,152,120 (GRCm39)	C611Y	probably damaging	Het

Other mutations in Slc5a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00766:Slc5a5	APN	8	71,341,181 (GRCm39)	missense	probably damaging	0.99
IGL01372:Slc5a5	APN	8	71,343,020 (GRCm39)	unclassified	probably benign
IGL01394:Slc5a5	APN	8	71,342,032 (GRCm39)	nonsense	probably null
IGL01571:Slc5a5	APN	8	71,343,976 (GRCm39)	unclassified	probably benign
IGL02043:Slc5a5	APN	8	71,345,073 (GRCm39)	missense	possibly damaging	0.84
IGL02186:Slc5a5	APN	8	71,338,764 (GRCm39)	missense	possibly damaging	0.79
IGL02479:Slc5a5	APN	8	71,341,555 (GRCm39)	missense	possibly damaging	0.67
IGL02559:Slc5a5	APN	8	71,342,915 (GRCm39)	missense	probably damaging	1.00
IGL02892:Slc5a5	APN	8	71,345,161 (GRCm39)	missense	probably damaging	1.00
IGL03388:Slc5a5	APN	8	71,342,972 (GRCm39)	missense	probably benign	0.45
R0234:Slc5a5	UTSW	8	71,342,277 (GRCm39)	missense	probably damaging	1.00
R0234:Slc5a5	UTSW	8	71,342,277 (GRCm39)	missense	probably damaging	1.00
R0413:Slc5a5	UTSW	8	71,344,319 (GRCm39)	missense	possibly damaging	0.63
R0662:Slc5a5	UTSW	8	71,336,519 (GRCm39)	missense	probably benign	0.01
R0781:Slc5a5	UTSW	8	71,342,864 (GRCm39)	missense	probably benign	0.19
R1061:Slc5a5	UTSW	8	71,342,865 (GRCm39)	missense	probably benign	0.00
R1400:Slc5a5	UTSW	8	71,342,079 (GRCm39)	missense	possibly damaging	0.87
R1524:Slc5a5	UTSW	8	71,344,978 (GRCm39)	missense	probably damaging	1.00
R2033:Slc5a5	UTSW	8	71,341,231 (GRCm39)	missense	probably damaging	0.99
R2072:Slc5a5	UTSW	8	71,345,083 (GRCm39)	missense	possibly damaging	0.95
R2075:Slc5a5	UTSW	8	71,345,083 (GRCm39)	missense	possibly damaging	0.95
R2111:Slc5a5	UTSW	8	71,342,395 (GRCm39)	splice site	probably null
R2112:Slc5a5	UTSW	8	71,342,395 (GRCm39)	splice site	probably null
R2201:Slc5a5	UTSW	8	71,345,102 (GRCm39)	missense	probably damaging	0.98
R3978:Slc5a5	UTSW	8	71,342,039 (GRCm39)	missense	probably benign	0.00
R4244:Slc5a5	UTSW	8	71,342,930 (GRCm39)	missense	probably benign
R5161:Slc5a5	UTSW	8	71,341,492 (GRCm39)	missense	probably damaging	1.00
R5397:Slc5a5	UTSW	8	71,343,823 (GRCm39)	missense	probably damaging	1.00
R5718:Slc5a5	UTSW	8	71,340,399 (GRCm39)	missense	probably benign	0.00
R5740:Slc5a5	UTSW	8	71,341,561 (GRCm39)	splice site	probably null
R5869:Slc5a5	UTSW	8	71,344,974 (GRCm39)	missense	probably damaging	1.00
R6268:Slc5a5	UTSW	8	71,341,264 (GRCm39)	missense	probably damaging	1.00
R6290:Slc5a5	UTSW	8	71,343,822 (GRCm39)	missense	probably damaging	1.00
R6292:Slc5a5	UTSW	8	71,343,822 (GRCm39)	missense	probably damaging	1.00
R7098:Slc5a5	UTSW	8	71,341,182 (GRCm39)	missense	probably damaging	0.99
R7354:Slc5a5	UTSW	8	71,342,247 (GRCm39)	missense	probably damaging	1.00
R8777:Slc5a5	UTSW	8	71,343,934 (GRCm39)	missense	possibly damaging	0.87
R8777-TAIL:Slc5a5	UTSW	8	71,343,934 (GRCm39)	missense	possibly damaging	0.87
R8903:Slc5a5	UTSW	8	71,345,227 (GRCm39)	missense	probably damaging	1.00
R9474:Slc5a5	UTSW	8	71,337,596 (GRCm39)	missense	probably benign

Predicted Primers

Posted On

2015-02-05