Mutagenetix > Incidental Mutation

Incidental Mutation 'R9474:Slc5a5'

715646

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9474 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

71335533-71345401 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71337596 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 574 (D574G)

Ref Sequence

ENSEMBL: ENSMUSP00000000809 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000000809
AA Change: D574G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000000809
Gene: ENSMUSG00000000792
AA Change: D574G

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	C	A	10: 78,903,565 (GRCm39)	K250N	probably damaging	Het
Adam5	A	T	8: 25,237,540 (GRCm39)	D623E	possibly damaging	Het
Akt3	T	C	1: 176,852,952 (GRCm39)	Y473C	probably damaging	Het
Ankib1	A	G	5: 3,805,617 (GRCm39)	Y217H	probably damaging	Het
Clca4b	T	A	3: 144,616,927 (GRCm39)	T908S	probably benign	Het
Clec7a	G	A	6: 129,440,126 (GRCm39)	Q160*	probably null	Het
Cntnap4	T	A	8: 113,460,103 (GRCm39)	I152N	probably damaging	Het
Ctdspl	C	T	9: 118,866,445 (GRCm39)	A179V	probably damaging	Het
Ddx43	T	C	9: 78,313,668 (GRCm39)	S200P	probably damaging	Het
Dip2c	A	G	13: 9,544,963 (GRCm39)	D84G	unknown	Het
Dmbt1	G	A	7: 130,675,987 (GRCm39)	R625H	unknown	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
E2f7	C	T	10: 110,603,050 (GRCm39)	T355I	probably damaging	Het
E2f7	C	A	10: 110,614,918 (GRCm39)	L541M	probably damaging	Het
Elovl5	T	A	9: 77,890,007 (GRCm39)	S273T	possibly damaging	Het
Emc1	T	A	4: 139,093,705 (GRCm39)	L605Q	probably damaging	Het
Fras1	T	A	5: 96,887,124 (GRCm39)	D2635E	probably benign	Het
Gabrb1	G	A	5: 72,265,690 (GRCm39)	G195E	probably damaging	Het
Galm	A	G	17: 80,457,561 (GRCm39)	D199G	possibly damaging	Het
Galntl6	T	G	8: 58,230,359 (GRCm39)	S20R	probably damaging	Het
Grb14	T	G	2: 64,768,744 (GRCm39)	Y189S	probably damaging	Het
Hk2	T	A	6: 82,705,895 (GRCm39)	I803F	probably damaging	Het
Hmcn1	G	A	1: 150,506,471 (GRCm39)	R3779W	probably damaging	Het
Hmgcr	A	C	13: 96,796,403 (GRCm39)	M260R	probably damaging	Het
Hsbp1l1	T	A	18: 80,276,639 (GRCm39)	K68N	possibly damaging	Het
Inhba	A	C	13: 16,192,263 (GRCm39)	E128A	probably benign	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Klhl3	G	A	13: 58,167,273 (GRCm39)	P364S	probably damaging	Het
Lhpp	T	C	7: 132,243,312 (GRCm39)	L176P	probably damaging	Het
Lrp1b	C	A	2: 40,491,599 (GRCm39)	A223S	probably damaging	Het
Lrp3	A	G	7: 34,903,489 (GRCm39)	F286L	probably damaging	Het
Lrrc7	T	C	3: 157,841,028 (GRCm39)	T1337A	probably benign	Het
Magi2	A	G	5: 20,400,019 (GRCm39)	D17G	probably benign	Het
Map3k21	T	C	8: 126,650,903 (GRCm39)	S302P	probably damaging	Het
Matcap2	T	C	9: 22,343,015 (GRCm39)	M303T	probably damaging	Het
Mbtd1	A	G	11: 93,816,511 (GRCm39)	D386G	probably benign	Het
Mfsd2b	A	T	12: 4,916,820 (GRCm39)	D306E	possibly damaging	Het
Muc20	T	C	16: 32,614,453 (GRCm39)	E308G	probably damaging	Het
Myh13	G	A	11: 67,255,712 (GRCm39)	S34N		Het
Nebl	C	A	2: 17,374,421 (GRCm39)	G894*	probably null	Het
Nelfa	A	G	5: 34,056,095 (GRCm39)	Y523H	probably damaging	Het
Ninj1	A	G	13: 49,341,076 (GRCm39)	D13G	probably benign	Het
Ninl	A	T	2: 150,782,726 (GRCm39)	S170T	probably benign	Het
Nlrp4c	G	A	7: 6,068,626 (GRCm39)	V176M	possibly damaging	Het
Nobox	G	A	6: 43,284,115 (GRCm39)	R144C	probably damaging	Het
Oas1a	G	A	5: 121,037,317 (GRCm39)	L237F	probably damaging	Het
Or4a81	A	C	2: 89,619,506 (GRCm39)	Y63*	probably null	Het
Or52z15	A	T	7: 103,332,477 (GRCm39)	Y184F	probably damaging	Het
Or5w20	T	C	2: 87,726,693 (GRCm39)	M50T	probably benign	Het
Or6z1	A	G	7: 6,505,150 (GRCm39)	L25P	probably benign	Het
Or7c70	T	C	10: 78,682,891 (GRCm39)	N286S	probably damaging	Het
Or8h9	A	G	2: 86,789,757 (GRCm39)	M15T	probably benign	Het
Orai1	A	G	5: 123,167,301 (GRCm39)	N158S	probably damaging	Het
Pa2g4	C	A	10: 128,398,967 (GRCm39)	V121L	probably benign	Het
Pclo	T	C	5: 14,571,250 (GRCm39)	S212P	possibly damaging	Het
Plce1	G	A	19: 38,766,337 (GRCm39)	E2121K	possibly damaging	Het
Plg	A	G	17: 12,622,024 (GRCm39)	Y448C	probably damaging	Het
Plppr4	A	T	3: 117,116,866 (GRCm39)	N330K	probably damaging	Het
Pou2f2	A	G	7: 24,794,247 (GRCm39)	L373S	probably benign	Het
Rnpep	A	G	1: 135,211,341 (GRCm39)	F136L	probably benign	Het
Rp1	A	G	1: 4,162,838 (GRCm39)		probably null	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Slc5a4a	GCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGC	GCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGC	10: 75,986,238 (GRCm39)		probably benign	Het
Slc7a15	T	A	12: 8,588,794 (GRCm39)	N251I	probably damaging	Het
Speer4a3	A	T	5: 26,158,136 (GRCm39)	I72N	probably damaging	Het
Susd4	T	C	1: 182,719,665 (GRCm39)	S427P	probably benign	Het
Tarbp1	T	A	8: 127,155,779 (GRCm39)	T1320S	probably benign	Het
Tbpl2	C	T	2: 23,984,650 (GRCm39)	V166I	probably benign	Het
Thbs1	T	C	2: 117,950,518 (GRCm39)		probably null	Het
Tnfsf13b	A	G	8: 10,081,648 (GRCm39)	Y270C	probably damaging	Het
Vps11	G	T	9: 44,260,290 (GRCm39)	C857*	probably null	Het
Vsig10	G	A	5: 117,463,104 (GRCm39)	R110H	probably benign	Het
Wee2	T	A	6: 40,432,044 (GRCm39)	Y204*	probably null	Het
Zfpm2	T	A	15: 40,966,867 (GRCm39)	S1117R	probably damaging	Het
Zscan5b	A	G	7: 6,234,472 (GRCm39)	N166S	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TGAGGTGACAGTGTCTCCAAC -3'
(R):5'- CTCCTCACGATTCAGATGAAGC -3'

Sequencing Primer
(F):5'- AGGTGACAGTGTCTCCAACTTTCAG -3'
(R):5'- TCACGATTCAGATGAAGCAACTG -3'

Posted On

2022-06-15