Mutagenetix > Incidental Mutation

Incidental Mutation 'R0234:Slc5a5'

59042

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

038475-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0234 (G1)

Quality Score

114

Status

Not validated

Chromosome

Chromosomal Location

71335533-71345401 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 71342277 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 258 (M258K)

Ref Sequence

ENSEMBL: ENSMUSP00000000809 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000000809
AA Change: M258K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000000809
Gene: ENSMUSG00000000792
AA Change: M258K

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

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.1%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A3galt2	A	G	4: 128,660,941 (GRCm39)	R197G	possibly damaging	Het
Acacb	A	T	5: 114,347,878 (GRCm39)	H983L	probably damaging	Het
Adal	T	A	2: 120,978,798 (GRCm39)	D139E	probably benign	Het
Adam6b	G	A	12: 113,454,230 (GRCm39)	R349H	probably damaging	Het
Agap1	A	G	1: 89,598,934 (GRCm39)	K331E	probably damaging	Het
Alyref	T	C	11: 120,489,133 (GRCm39)	D11G	probably damaging	Het
B3gat1	A	G	9: 26,667,377 (GRCm39)	E203G	probably damaging	Het
Bsn	T	C	9: 107,993,595 (GRCm39)	E719G	possibly damaging	Het
Cap2	G	C	13: 46,791,498 (GRCm39)		probably null	Het
Ccni	A	G	5: 93,350,186 (GRCm39)	V31A	probably benign	Het
Cdcp3	T	A	7: 130,796,032 (GRCm39)		probably null	Het
Cfap54	A	T	10: 92,735,022 (GRCm39)	L2343*	probably null	Het
Clns1a	T	A	7: 97,363,239 (GRCm39)	Y204N	possibly damaging	Het
Cox11	C	T	11: 90,535,326 (GRCm39)	T259I	probably damaging	Het
Dsp	A	G	13: 38,371,869 (GRCm39)	N940S	probably benign	Het
Erbb2	T	C	11: 98,327,265 (GRCm39)	V1181A	probably benign	Het
Exoc4	T	C	6: 33,839,022 (GRCm39)	V686A	possibly damaging	Het
F830045P16Rik	A	G	2: 129,305,384 (GRCm39)	V330A	possibly damaging	Het
Fbf1	A	C	11: 116,045,860 (GRCm39)	F245V	probably damaging	Het
Fut10	T	A	8: 31,726,225 (GRCm39)	F327I	probably damaging	Het
Galnt1	C	T	18: 24,387,690 (GRCm39)	P144S	probably damaging	Het
Garin4	T	C	1: 190,895,105 (GRCm39)	S513G	probably benign	Het
Ghrhr	A	T	6: 55,356,171 (GRCm39)	D88V	possibly damaging	Het
Greb1l	T	A	18: 10,560,331 (GRCm39)	C1864S	probably damaging	Het
H1f2	T	C	13: 23,923,106 (GRCm39)	I92T	probably benign	Het
Hps1	T	C	19: 42,750,992 (GRCm39)	E336G	probably damaging	Het
Ibsp	GGAAGAAGAAGAAGAAGA	GGAAGAAGAAGAAGA	5: 104,457,935 (GRCm39)		probably benign	Het
Irgc	C	A	7: 24,132,753 (GRCm39)	E21D	possibly damaging	Het
Itsn1	A	T	16: 91,625,168 (GRCm39)	R590*	probably null	Het
Katnip	T	C	7: 125,394,557 (GRCm39)	V211A	probably benign	Het
Lmln	T	C	16: 32,886,694 (GRCm39)	V67A	probably damaging	Het
Lsm14a	T	C	7: 34,065,042 (GRCm39)	Q179R	probably damaging	Het
Ltbr	A	C	6: 125,289,836 (GRCm39)	D119E	probably benign	Het
Mrc1	A	G	2: 14,284,705 (GRCm39)	T565A	possibly damaging	Het
Muc6	A	C	7: 141,235,939 (GRCm39)	N473K	possibly damaging	Het
Myocd	A	T	11: 65,078,066 (GRCm39)	D448E	probably benign	Het
Neil2	T	A	14: 63,420,975 (GRCm39)	I239F	probably damaging	Het
Npnt	A	G	3: 132,620,175 (GRCm39)	F123S	possibly damaging	Het
Or2g25	T	A	17: 37,970,997 (GRCm39)	I76F	probably damaging	Het
Or4f15	T	C	2: 111,813,645 (GRCm39)	Y258C	probably damaging	Het
Or52x1	C	A	7: 104,852,821 (GRCm39)	C243F	probably damaging	Het
Or56a5	T	C	7: 104,793,281 (GRCm39)	D73G	probably damaging	Het
Or5d37	T	A	2: 87,923,366 (GRCm39)	R305*	probably null	Het
Or8d1b	A	C	9: 38,887,547 (GRCm39)		probably null	Het
Or9i2	C	T	19: 13,815,902 (GRCm39)	V212M	possibly damaging	Het
Pcnx3	T	C	19: 5,722,646 (GRCm39)	T941A	probably benign	Het
Phldb3	G	A	7: 24,312,004 (GRCm39)	R106Q	probably benign	Het
Pitrm1	C	A	13: 6,625,115 (GRCm39)	Y864*	probably null	Het
Plcb4	T	C	2: 135,823,995 (GRCm39)	I844T	probably benign	Het
Plekhg5	T	C	4: 152,196,676 (GRCm39)	C695R	probably damaging	Het
Ppp1r3b	T	A	8: 35,851,655 (GRCm39)	F165I	probably damaging	Het
Prr5	T	A	15: 84,587,322 (GRCm39)	F357L	probably damaging	Het
Rasgrf1	A	T	9: 89,891,419 (GRCm39)	I1046F	probably damaging	Het
Rbm15b	T	C	9: 106,762,563 (GRCm39)	Y535C	probably damaging	Het
Rbp3	A	T	14: 33,677,858 (GRCm39)	E602V	probably damaging	Het
Rimklb	T	C	6: 122,433,292 (GRCm39)	N343S	probably benign	Het
Rrp12	A	G	19: 41,860,199 (GRCm39)	L1008P	probably damaging	Het
Sec63	C	T	10: 42,674,794 (GRCm39)	R226C	probably damaging	Het
Sirpa	T	C	2: 129,457,388 (GRCm39)	V154A	probably damaging	Het
Slc13a5	C	G	11: 72,141,626 (GRCm39)	V405L	probably damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc22a23	G	A	13: 34,367,244 (GRCm39)	T588I	probably damaging	Het
Slc22a27	C	A	19: 7,904,156 (GRCm39)		probably benign	Het
Slc4a4	A	C	5: 89,304,195 (GRCm39)	H502P	possibly damaging	Het
Spry4	A	G	18: 38,723,142 (GRCm39)	I207T	possibly damaging	Het
Stk11ip	A	G	1: 75,505,711 (GRCm39)	D460G	possibly damaging	Het
Syn3	T	A	10: 86,284,750 (GRCm39)	I117F	possibly damaging	Het
Tead4	C	T	6: 128,220,365 (GRCm39)	A224T	probably damaging	Het
Tmtc3	A	T	10: 100,286,184 (GRCm39)	N546K	probably benign	Het
Tnn	T	A	1: 159,916,036 (GRCm39)	H1227L	probably damaging	Het
Tor2a	G	A	2: 32,648,716 (GRCm39)	G62D	probably damaging	Het
Trf	T	C	9: 103,104,078 (GRCm39)		probably null	Het
Ubr5	T	C	15: 37,968,737 (GRCm39)	T2727A	probably damaging	Het
Vmn2r27	T	A	6: 124,208,578 (GRCm39)	T56S	probably benign	Het
Wipf3	T	G	6: 54,473,486 (GRCm39)	L458R	probably damaging	Het
Zfp236	T	C	18: 82,648,119 (GRCm39)	K966R	probably damaging	Het
Zfp27	T	A	7: 29,593,532 (GRCm39)	H811L	possibly damaging	Het
Zfp366	A	G	13: 99,370,768 (GRCm39)	H496R	probably damaging	Het
Zfp467	A	T	6: 48,415,689 (GRCm39)	V321E	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
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
R2110:Slc5a5	UTSW	8	71,342,395 (GRCm39)	splice site	probably null
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

PCR Primer
(F):5'- GCTGCACTAGCCACAATCAGGAAG -3'
(R):5'- GTGTCTCAGAGGGGAACAAAACTCAAC -3'

Sequencing Primer
(F):5'- CCAAGCTGGTTGACAAGC -3'
(R):5'- tgtttgtttgttttgttgttgtttg -3'

Posted On

2013-07-11