Mutagenetix > Incidental Mutation

Incidental Mutation 'R1524:Slc5a5'

167719

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

039565-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1524 (G1)

Quality Score

194

Status

Validated

Chromosome

Chromosomal Location

71335533-71345401 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 71344978 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 110 (Y110D)

Ref Sequence

ENSEMBL: ENSMUSP00000000809 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000000809
AA Change: Y110D

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

SMART Domains

Protein: ENSMUSP00000000809
Gene: ENSMUSG00000000792
AA Change: Y110D

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: ENSMUST00000212709

Predicted Effect

probably benign
Transcript: ENSMUST00000212494

Predicted Effect

probably benign
Transcript: ENSMUST00000213053

Predicted Effect

probably benign
Transcript: ENSMUST00000212796

Meta Mutation Damage Score

0.7422

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

97% (68/70)

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
2310003L06Rik	G	T	5: 88,119,548 (GRCm39)	V102L	probably benign	Het
Adck1	T	C	12: 88,368,854 (GRCm39)	Y111H	probably damaging	Het
Adcy10	G	T	1: 165,345,972 (GRCm39)	K340N	probably damaging	Het
Aebp1	T	C	11: 5,820,089 (GRCm39)	V355A	probably damaging	Het
Atp2b2	T	C	6: 113,751,162 (GRCm39)		probably benign	Het
Atrn	T	C	2: 130,799,000 (GRCm39)	V390A	probably benign	Het
Bpifc	T	A	10: 85,813,599 (GRCm39)	Q315L	probably benign	Het
C1qtnf6	T	G	15: 78,409,092 (GRCm39)		probably null	Het
Cab39l	A	G	14: 59,757,186 (GRCm39)		probably benign	Het
Capn12	T	A	7: 28,582,189 (GRCm39)		probably benign	Het
Ceacam18	A	C	7: 43,288,779 (GRCm39)	T177P	possibly damaging	Het
Ces5a	A	T	8: 94,252,293 (GRCm39)	F200I	probably damaging	Het
Cldn19	G	T	4: 119,114,248 (GRCm39)		probably null	Het
Cntnap2	A	G	6: 46,507,613 (GRCm39)	S46P	probably damaging	Het
Dchs1	A	G	7: 105,413,732 (GRCm39)	Y1028H	probably damaging	Het
Exd1	A	T	2: 119,355,155 (GRCm39)	F253L	probably damaging	Het
Fam161a	A	G	11: 22,965,826 (GRCm39)	N40D	possibly damaging	Het
Fam81a	A	T	9: 70,032,390 (GRCm39)	I34N	probably damaging	Het
Fchsd1	A	C	18: 38,098,950 (GRCm39)		probably null	Het
Fut11	T	A	14: 20,746,234 (GRCm39)	F359I	possibly damaging	Het
Fut7	T	C	2: 25,315,159 (GRCm39)	V92A	probably damaging	Het
Grid2	C	G	6: 64,406,738 (GRCm39)	F699L	possibly damaging	Het
Grin2a	A	G	16: 9,481,467 (GRCm39)	S445P	possibly damaging	Het
H2al2b	A	C	Y: 2,720,391 (GRCm39)	F95C	probably damaging	Het
Hecw2	T	C	1: 53,890,777 (GRCm39)	D1246G	probably damaging	Het
Ifit1	A	G	19: 34,625,032 (GRCm39)	N56S	probably damaging	Het
Ldb3	C	A	14: 34,277,313 (GRCm39)	V354L	probably benign	Het
Lrig2	T	C	3: 104,371,192 (GRCm39)	Y479C	probably benign	Het
Ltn1	A	G	16: 87,178,444 (GRCm39)	V1595A	probably damaging	Het
Macf1	A	G	4: 123,326,323 (GRCm39)	V2939A	possibly damaging	Het
Mapre3	T	G	5: 31,019,261 (GRCm39)	I35S	probably damaging	Het
Med16	A	T	10: 79,734,150 (GRCm39)	L588Q	probably damaging	Het
Ncapg2	T	C	12: 116,398,198 (GRCm39)		probably benign	Het
Ncstn	C	A	1: 171,899,716 (GRCm39)	R322L	possibly damaging	Het
Ndst1	A	T	18: 60,831,576 (GRCm39)	I594N	probably damaging	Het
Ndst3	A	G	3: 123,342,555 (GRCm39)	I752T	possibly damaging	Het
Obscn	G	T	11: 59,006,681 (GRCm39)	S1185R	probably damaging	Het
Or5b112	T	A	19: 13,319,486 (GRCm39)	C121*	probably null	Het
Or6aa1	A	G	7: 86,044,020 (GRCm39)	S229P	probably benign	Het
Or9q1	A	T	19: 13,805,679 (GRCm39)	L27H	probably damaging	Het
Otof	T	A	5: 30,536,900 (GRCm39)	D1285V	probably benign	Het
Pcnx2	A	G	8: 126,617,880 (GRCm39)	I125T	probably benign	Het
Pde4a	T	C	9: 21,112,543 (GRCm39)	S240P	probably damaging	Het
Pi15	T	C	1: 17,690,076 (GRCm39)	S126P	probably benign	Het
Pkhd1	T	C	1: 20,188,004 (GRCm39)	S3435G	probably damaging	Het
Plin1	C	A	7: 79,376,338 (GRCm39)	V133L	probably benign	Het
Pnpt1	T	A	11: 29,080,776 (GRCm39)	C7S	unknown	Het
Ppp3ca	A	T	3: 136,503,579 (GRCm39)	M51L	probably benign	Het
Primpol	G	T	8: 47,039,502 (GRCm39)		probably benign	Het
Prlr	T	C	15: 10,319,419 (GRCm39)	V116A	probably damaging	Het
Ptgr3	A	G	18: 84,112,831 (GRCm39)	E169G	probably benign	Het
Rnf139	A	G	15: 58,761,266 (GRCm39)	D35G	probably damaging	Het
Rsbn1l	T	A	5: 21,156,671 (GRCm39)	K38M	probably damaging	Het
Ryr3	T	A	2: 112,699,427 (GRCm39)	I888F	probably damaging	Het
Sec16a	C	A	2: 26,318,394 (GRCm39)	V1566F	probably damaging	Het
Sin3b	A	G	8: 73,479,915 (GRCm39)	T874A	probably benign	Het
Skic3	T	A	13: 76,286,491 (GRCm39)	D891E	probably benign	Het
Smarcd2	C	T	11: 106,157,978 (GRCm39)	V97I	probably benign	Het
St6galnac2	G	A	11: 116,575,313 (GRCm39)		probably benign	Het
Tbc1d22b	T	C	17: 29,789,585 (GRCm39)	L149P	probably damaging	Het
Tekt2	T	C	4: 126,217,442 (GRCm39)	I208V	probably benign	Het
Tenm3	A	G	8: 48,682,016 (GRCm39)	I2522T	possibly damaging	Het
Ttll5	T	A	12: 85,911,342 (GRCm39)	Y233*	probably null	Het
Vcpip1	C	T	1: 9,794,727 (GRCm39)	E1215K	probably damaging	Het
Wdr4	T	C	17: 31,728,737 (GRCm39)		probably benign	Het
Zfp703	G	A	8: 27,469,401 (GRCm39)	G355D	probably damaging	Het
Zfp830	T	A	11: 82,655,794 (GRCm39)	D199E	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
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'- CGTTTGGGAAATCCTACACCTCACTG -3'
(R):5'- AGCGCCGACGACTTCTTCAC -3'

Sequencing Primer
(F):5'- TTGAACTCTGTCGGGCG -3'
(R):5'- ACGACTTCTTCACCGGGG -3'

Posted On

2014-04-13