Mutagenetix > Incidental Mutation

Incidental Mutation 'R1061:Slc5a5'

94483

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

039147-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1061 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70882889-70892757 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70890221 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 232 (M232L)

Ref Sequence

ENSEMBL: ENSMUSP00000000809 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000000809
AA Change: M232L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000000809
Gene: ENSMUSG00000000792
AA Change: M232L

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: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.1%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,277,809 (GRCm38)	A715T	probably benign	Het
Ampd2	A	G	3: 108,075,689 (GRCm38)	Y641H	probably damaging	Het
Aqp4	A	T	18: 15,398,191 (GRCm38)	V171E	probably damaging	Het
Arid4a	T	A	12: 71,074,955 (GRCm38)	S381R	probably damaging	Het
Armc8	T	G	9: 99,537,731 (GRCm38)	N51H	probably damaging	Het
Asic5	T	A	3: 82,021,001 (GRCm38)	Y424N	probably damaging	Het
Bcl11a	A	T	11: 24,164,069 (GRCm38)	K471*	probably null	Het
Birc6	A	G	17: 74,689,312 (GRCm38)	T4494A	probably damaging	Het
Btbd9	A	G	17: 30,527,435 (GRCm38)	I139T	probably benign	Het
Ccdc114	T	C	7: 45,941,755 (GRCm38)	I218T	probably damaging	Het
Ccdc60	C	A	5: 116,172,468 (GRCm38)	R178S	possibly damaging	Het
Cd163	C	T	6: 124,309,169 (GRCm38)	A226V	probably benign	Het
Cog1	T	G	11: 113,652,037 (GRCm38)	S170A	probably benign	Het
Cwc15	T	C	9: 14,507,915 (GRCm38)	L169P	probably damaging	Het
Cyp3a25	A	T	5: 145,986,833 (GRCm38)	D333E	probably benign	Het
Ddc	C	T	11: 11,829,132 (GRCm38)	V331I	probably benign	Het
Dlc1	T	A	8: 36,858,051 (GRCm38)	T367S	probably benign	Het
Dnah17	T	C	11: 118,052,688 (GRCm38)	D3183G	possibly damaging	Het
Eif2a	T	A	3: 58,545,065 (GRCm38)	Y165*	probably null	Het
Eml6	T	C	11: 29,777,267 (GRCm38)	D1285G	probably damaging	Het
Fam92b	C	A	8: 120,169,704 (GRCm38)		probably null	Het
Fasn	T	C	11: 120,822,182 (GRCm38)		probably null	Het
Fbn1	T	C	2: 125,345,963 (GRCm38)	T1549A	probably benign	Het
Fezf2	T	C	14: 12,342,713 (GRCm38)	Y384C	probably damaging	Het
Flvcr1	A	T	1: 191,008,173 (GRCm38)	V550E	probably benign	Het
Gcm2	A	G	13: 41,105,871 (GRCm38)	W41R	probably damaging	Het
Gli2	A	T	1: 118,854,517 (GRCm38)	M160K	possibly damaging	Het
Gpr61	C	T	3: 108,150,307 (GRCm38)	R346H	probably damaging	Het
Hoxa5	A	T	6: 52,204,155 (GRCm38)	S66T	probably benign	Het
Hsph1	A	T	5: 149,618,418 (GRCm38)	V781D	possibly damaging	Het
Kdm3b	G	A	18: 34,796,862 (GRCm38)	V220M	probably damaging	Het
Klhl25	T	A	7: 75,866,520 (GRCm38)	Y391*	probably null	Het
Mc2r	A	T	18: 68,407,809 (GRCm38)	Y138N	probably damaging	Het
Mtap	C	A	4: 89,156,584 (GRCm38)	D106E	probably benign	Het
Nup43	G	T	10: 7,667,671 (GRCm38)	W37L	probably damaging	Het
Nxpe2	T	A	9: 48,326,363 (GRCm38)	E197D	probably damaging	Het
Olfr1098	A	T	2: 86,922,782 (GRCm38)	V250D	possibly damaging	Het
Olfr484	T	C	7: 108,124,456 (GRCm38)	Y269C	probably damaging	Het
Olfr544	T	A	7: 102,484,114 (GRCm38)	*335C	probably null	Het
Olfr934	C	A	9: 38,982,483 (GRCm38)	C187F	probably damaging	Het
Pitrm1	A	G	13: 6,555,575 (GRCm38)	H186R	probably damaging	Het
Pklr	C	T	3: 89,144,881 (GRCm38)	R467C	probably damaging	Het
Plxna2	A	G	1: 194,644,093 (GRCm38)	N112D	probably damaging	Het
Ppp1r16a	C	T	15: 76,693,669 (GRCm38)	Q328*	probably null	Het
Ppp3cb	A	C	14: 20,508,614 (GRCm38)		probably null	Het
R3hcc1l	C	T	19: 42,583,426 (GRCm38)	R135*	probably null	Het
Ralyl	A	C	3: 14,115,701 (GRCm38)	D68A	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324 (GRCm38)		probably benign	Het
S100a1	T	C	3: 90,511,312 (GRCm38)	N65S	probably damaging	Het
Scn11a	A	T	9: 119,795,663 (GRCm38)	M531K	probably damaging	Het
Tet3	A	T	6: 83,373,323 (GRCm38)	N1054K	probably damaging	Het
Tg	A	G	15: 66,698,559 (GRCm38)	N1427D	probably benign	Het
Tns1	A	C	1: 73,917,672 (GRCm38)	V530G	probably damaging	Het
Trcg1	C	A	9: 57,245,873 (GRCm38)	Q600K	possibly damaging	Het
Tshz3	A	G	7: 36,768,706 (GRCm38)	E40G	probably damaging	Het
Usp34	T	C	11: 23,384,420 (GRCm38)	F1138S	possibly damaging	Het
Vmn2r26	C	T	6: 124,061,644 (GRCm38)	T726I	probably benign	Het
Vmn2r97	A	T	17: 18,928,178 (GRCm38)	R112*	probably null	Het
Vwa2	G	T	19: 56,908,994 (GRCm38)	R577L	probably benign	Het
Vwa3b	A	C	1: 37,157,430 (GRCm38)	Q46P	probably damaging	Het
Wdr25	T	A	12: 108,992,799 (GRCm38)		probably null	Het
Wrap53	A	G	11: 69,562,400 (GRCm38)	L405P	probably damaging	Het
Zfp629	C	A	7: 127,611,989 (GRCm38)	W216L	probably damaging	Het

Other mutations in Slc5a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00766:Slc5a5	APN	8	70,888,537 (GRCm38)	missense	probably damaging	0.99
IGL01372:Slc5a5	APN	8	70,890,376 (GRCm38)	unclassified	probably benign
IGL01394:Slc5a5	APN	8	70,889,388 (GRCm38)	nonsense	probably null
IGL01571:Slc5a5	APN	8	70,891,332 (GRCm38)	unclassified	probably benign
IGL02043:Slc5a5	APN	8	70,892,429 (GRCm38)	missense	possibly damaging	0.84
IGL02186:Slc5a5	APN	8	70,886,120 (GRCm38)	missense	possibly damaging	0.79
IGL02479:Slc5a5	APN	8	70,888,911 (GRCm38)	missense	possibly damaging	0.67
IGL02559:Slc5a5	APN	8	70,890,271 (GRCm38)	missense	probably damaging	1.00
IGL02892:Slc5a5	APN	8	70,892,517 (GRCm38)	missense	probably damaging	1.00
IGL03388:Slc5a5	APN	8	70,890,328 (GRCm38)	missense	probably benign	0.45
R0234:Slc5a5	UTSW	8	70,889,633 (GRCm38)	missense	probably damaging	1.00
R0234:Slc5a5	UTSW	8	70,889,633 (GRCm38)	missense	probably damaging	1.00
R0413:Slc5a5	UTSW	8	70,891,675 (GRCm38)	missense	possibly damaging	0.63
R0662:Slc5a5	UTSW	8	70,883,875 (GRCm38)	missense	probably benign	0.01
R0781:Slc5a5	UTSW	8	70,890,220 (GRCm38)	missense	probably benign	0.19
R1400:Slc5a5	UTSW	8	70,889,435 (GRCm38)	missense	possibly damaging	0.87
R1524:Slc5a5	UTSW	8	70,892,334 (GRCm38)	missense	probably damaging	1.00
R2033:Slc5a5	UTSW	8	70,888,587 (GRCm38)	missense	probably damaging	0.99
R2072:Slc5a5	UTSW	8	70,892,439 (GRCm38)	missense	possibly damaging	0.95
R2075:Slc5a5	UTSW	8	70,892,439 (GRCm38)	missense	possibly damaging	0.95
R2110:Slc5a5	UTSW	8	70,889,751 (GRCm38)	splice site	probably null
R2111:Slc5a5	UTSW	8	70,889,751 (GRCm38)	splice site	probably null
R2112:Slc5a5	UTSW	8	70,889,751 (GRCm38)	splice site	probably null
R2201:Slc5a5	UTSW	8	70,892,458 (GRCm38)	missense	probably damaging	0.98
R3978:Slc5a5	UTSW	8	70,889,395 (GRCm38)	missense	probably benign	0.00
R4244:Slc5a5	UTSW	8	70,890,286 (GRCm38)	missense	probably benign
R5161:Slc5a5	UTSW	8	70,888,848 (GRCm38)	missense	probably damaging	1.00
R5397:Slc5a5	UTSW	8	70,891,179 (GRCm38)	missense	probably damaging	1.00
R5718:Slc5a5	UTSW	8	70,887,755 (GRCm38)	missense	probably benign	0.00
R5740:Slc5a5	UTSW	8	70,888,917 (GRCm38)	splice site	probably null
R5869:Slc5a5	UTSW	8	70,892,330 (GRCm38)	missense	probably damaging	1.00
R6268:Slc5a5	UTSW	8	70,888,620 (GRCm38)	missense	probably damaging	1.00
R6290:Slc5a5	UTSW	8	70,891,178 (GRCm38)	missense	probably damaging	1.00
R6292:Slc5a5	UTSW	8	70,891,178 (GRCm38)	missense	probably damaging	1.00
R7098:Slc5a5	UTSW	8	70,888,538 (GRCm38)	missense	probably damaging	0.99
R7354:Slc5a5	UTSW	8	70,889,603 (GRCm38)	missense	probably damaging	1.00
R8777:Slc5a5	UTSW	8	70,891,290 (GRCm38)	missense	possibly damaging	0.87
R8777-TAIL:Slc5a5	UTSW	8	70,891,290 (GRCm38)	missense	possibly damaging	0.87
R8903:Slc5a5	UTSW	8	70,892,583 (GRCm38)	missense	probably damaging	1.00
R9474:Slc5a5	UTSW	8	70,884,952 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AACAACCATGTGAGGATGTCACCC -3'
(R):5'- TCACAGATGTGCCACAGGAAGC -3'

Sequencing Primer
(F):5'- AGGATGTCACCCTCCCCAG -3'
(R):5'- GGTTTGTGACCTGTATCCCC -3'

Posted On

2014-01-05