Mutagenetix > Incidental Mutation

Incidental Mutation 'R7734:Slc5a1'

596040

Institutional Source

Beutler Lab

Gene Symbol

Slc5a1

Ensembl Gene

ENSMUSG00000011034

Gene Name

solute carrier family 5 (sodium/glucose cotransporter), member 1

Synonyms

sodium glucose cotransporter 1, Sglt1

MMRRC Submission

045790-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.175) question?

Stock #

R7734 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33261563-33320043 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 33318279 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 644 (T644I)

Ref Sequence

ENSEMBL: ENSMUSP00000011178 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000011178]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000011178
AA Change: T644I

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

SMART Domains

Protein: ENSMUSP00000011178
Gene: ENSMUSG00000011034
AA Change: T644I

Domain	Start	End	E-Value	Type
transmembrane domain	26	48	N/A	INTRINSIC
Pfam:SSF	58	492	2.6e-174	PFAM
transmembrane domain	526	548	N/A	INTRINSIC
low complexity region	620	634	N/A	INTRINSIC
transmembrane domain	641	663	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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-dependent glucose transporter (SGLT) family. The encoded integral membrane protein is the primary mediator of dietary glucose and galactose uptake from the intestinal lumen. Mutations in this gene have been associated with glucose-galactose malabsorption. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality unless maintained on a glucose-galatose-free diet, distended intestine, impaired glucose transport across the brush border membrane and impaired renal glucose reabsorption. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa2	T	C	9: 69,398,764 (GRCm39)	Y333H	probably benign	Het
Arid1a	A	T	4: 133,408,679 (GRCm39)	F1558I	unknown	Het
Aste1	A	G	9: 105,274,678 (GRCm39)	D306G	probably damaging	Het
Atp2a2	A	G	5: 122,596,590 (GRCm39)	V843A	possibly damaging	Het
Atrip	T	A	9: 108,894,574 (GRCm39)	H451L	probably benign	Het
Cdc42bpb	T	C	12: 111,295,664 (GRCm39)	D200G	probably damaging	Het
Ceacam19	A	C	7: 19,620,520 (GRCm39)	M37R	probably benign	Het
Cemip	G	A	7: 83,606,872 (GRCm39)	R782*	probably null	Het
Cpe	A	T	8: 65,070,654 (GRCm39)	I197N	probably benign	Het
Csmd2	C	A	4: 128,445,850 (GRCm39)	P3307T		Het
Cyp4a12b	C	A	4: 115,268,937 (GRCm39)	Q20K	possibly damaging	Het
Dcaf1	T	C	9: 106,715,878 (GRCm39)	Y332H	probably damaging	Het
Dclk3	A	G	9: 111,298,163 (GRCm39)	H569R	probably damaging	Het
Dcp1b	A	G	6: 119,192,244 (GRCm39)	S387G	probably benign	Het
Ddx24	A	G	12: 103,383,819 (GRCm39)	M590T	possibly damaging	Het
Dixdc1	T	G	9: 50,613,268 (GRCm39)	Q229P	probably damaging	Het
Dnase1l3	T	C	14: 7,977,144 (GRCm38)	R181G	probably benign	Het
Dzip1l	A	T	9: 99,549,735 (GRCm39)	D735V	probably damaging	Het
Edem3	T	C	1: 151,694,336 (GRCm39)	S890P	probably benign	Het
Fuom	A	G	7: 139,679,455 (GRCm39)	L155P	unknown	Het
Gm6408	C	A	5: 146,421,160 (GRCm39)	S263*	probably null	Het
Helz	C	G	11: 107,576,248 (GRCm39)	S1814R	unknown	Het
Hrc	T	C	7: 44,986,100 (GRCm39)	L417P	probably benign	Het
Igdcc4	A	C	9: 65,039,035 (GRCm39)	H894P	probably damaging	Het
Lgr6	C	A	1: 134,930,981 (GRCm39)	V296L	probably damaging	Het
Map3k4	T	A	17: 12,482,998 (GRCm39)	Y573F	probably damaging	Het
Mest	T	C	6: 30,746,299 (GRCm39)	Y296H	unknown	Het
Mettl21a	C	T	1: 64,647,288 (GRCm39)	V90M	probably damaging	Het
Mfsd4b1	A	T	10: 39,883,374 (GRCm39)	N25K	probably damaging	Het
Mmd	T	A	11: 90,167,579 (GRCm39)	F203I	probably damaging	Het
Myo15a	G	A	11: 60,401,108 (GRCm39)	V3028M	probably benign	Het
Nlrp1a	T	A	11: 70,998,826 (GRCm39)	N859I	unknown	Het
Nrcam	T	C	12: 44,584,034 (GRCm39)	L36P	possibly damaging	Het
Nup107	C	A	10: 117,593,917 (GRCm39)	E759*	probably null	Het
Or14a259	A	G	7: 86,013,476 (GRCm39)	I23T	not run	Het
Pcdh7	T	G	5: 57,876,976 (GRCm39)	I177S	probably damaging	Het
Pde6a	T	C	18: 61,365,938 (GRCm39)	I221T	probably benign	Het
Ptpn13	A	T	5: 103,709,828 (GRCm39)	N1497I	probably damaging	Het
Rmc1	T	A	18: 12,322,320 (GRCm39)	I591N	possibly damaging	Het
Rpl4	T	A	9: 64,084,661 (GRCm39)	H245Q	probably benign	Het
Rsf1	C	CCACGGCGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Scara5	A	G	14: 65,968,600 (GRCm39)	D291G	possibly damaging	Het
Septin14	T	A	5: 129,760,583 (GRCm39)	I422L	probably benign	Het
Serpina1e	T	C	12: 103,917,151 (GRCm39)	K173E	probably benign	Het
Slc6a13	A	T	6: 121,314,334 (GRCm39)	T590S	probably benign	Het
Smarca4	C	T	9: 21,578,658 (GRCm39)	T938I	possibly damaging	Het
Stxbp1	A	T	2: 32,691,832 (GRCm39)	D453E	probably benign	Het
Tcf12	C	A	9: 71,829,943 (GRCm39)	V173L	probably benign	Het
Tenm3	A	G	8: 49,099,368 (GRCm39)	C146R	probably damaging	Het
Trim11	T	C	11: 58,869,180 (GRCm39)	C39R	probably damaging	Het
Trim37	A	G	11: 87,068,821 (GRCm39)	Y389C	probably damaging	Het
Ttll8	C	T	15: 88,798,368 (GRCm39)	G789D	probably damaging	Het
Tubb2a	C	T	13: 34,258,776 (GRCm39)	S338N	probably benign	Het
Ulk2	G	A	11: 61,744,127 (GRCm39)	Q50*	probably null	Het
Urgcp	T	C	11: 5,666,406 (GRCm39)	D687G	probably benign	Het
Usp13	C	T	3: 32,892,054 (GRCm39)	H78Y	probably benign	Het
Vmn2r100	T	A	17: 19,742,296 (GRCm39)	D223E	probably benign	Het
Vwc2	G	A	11: 11,065,929 (GRCm39)	A6T	possibly damaging	Het

Other mutations in Slc5a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01573:Slc5a1	APN	5	33,318,209 (GRCm39)	missense	probably benign
IGL01872:Slc5a1	APN	5	33,311,981 (GRCm39)	missense	probably damaging	0.97
IGL01906:Slc5a1	APN	5	33,311,997 (GRCm39)	missense	probably damaging	1.00
IGL02614:Slc5a1	APN	5	33,311,945 (GRCm39)	missense	probably benign	0.02
IGL03241:Slc5a1	APN	5	33,290,749 (GRCm39)	missense	probably benign	0.00
IGL03336:Slc5a1	APN	5	33,304,287 (GRCm39)	missense	probably benign	0.24
R0314:Slc5a1	UTSW	5	33,303,995 (GRCm39)	missense	probably benign	0.02
R0421:Slc5a1	UTSW	5	33,291,996 (GRCm39)	missense	probably damaging	1.00
R0755:Slc5a1	UTSW	5	33,290,733 (GRCm39)	missense	probably benign	0.14
R0791:Slc5a1	UTSW	5	33,315,421 (GRCm39)	splice site	probably benign
R1506:Slc5a1	UTSW	5	33,312,052 (GRCm39)	missense	possibly damaging	0.72
R1801:Slc5a1	UTSW	5	33,304,297 (GRCm39)	missense	probably damaging	1.00
R2143:Slc5a1	UTSW	5	33,318,140 (GRCm39)	missense	probably benign
R2190:Slc5a1	UTSW	5	33,261,937 (GRCm39)	critical splice donor site	probably null
R3796:Slc5a1	UTSW	5	33,309,996 (GRCm39)	missense	probably damaging	1.00
R4423:Slc5a1	UTSW	5	33,312,018 (GRCm39)	missense	possibly damaging	0.49
R4465:Slc5a1	UTSW	5	33,303,860 (GRCm39)	missense	possibly damaging	0.89
R4588:Slc5a1	UTSW	5	33,302,632 (GRCm39)	missense	probably benign	0.01
R4722:Slc5a1	UTSW	5	33,304,055 (GRCm39)	missense	possibly damaging	0.86
R4826:Slc5a1	UTSW	5	33,316,494 (GRCm39)	missense	probably benign
R4934:Slc5a1	UTSW	5	33,261,858 (GRCm39)	missense	probably benign
R4955:Slc5a1	UTSW	5	33,318,246 (GRCm39)	missense	probably benign	0.02
R4963:Slc5a1	UTSW	5	33,318,126 (GRCm39)	missense	probably benign	0.00
R5008:Slc5a1	UTSW	5	33,309,917 (GRCm39)	missense	possibly damaging	0.75
R5094:Slc5a1	UTSW	5	33,315,624 (GRCm39)	missense	probably damaging	1.00
R5292:Slc5a1	UTSW	5	33,315,585 (GRCm39)	missense	probably benign
R5654:Slc5a1	UTSW	5	33,303,955 (GRCm39)	missense	probably benign	0.00
R6784:Slc5a1	UTSW	5	33,315,460 (GRCm39)	missense	probably benign	0.00
R7585:Slc5a1	UTSW	5	33,318,288 (GRCm39)	missense	probably damaging	1.00
R7751:Slc5a1	UTSW	5	33,290,761 (GRCm39)	missense	possibly damaging	0.63
R7827:Slc5a1	UTSW	5	33,304,057 (GRCm39)	missense	probably damaging	1.00
R8755:Slc5a1	UTSW	5	33,316,526 (GRCm39)	missense	probably benign	0.01
R9433:Slc5a1	UTSW	5	33,310,025 (GRCm39)	missense	probably benign	0.00
RF020:Slc5a1	UTSW	5	33,290,773 (GRCm39)	missense	probably damaging	1.00
X0064:Slc5a1	UTSW	5	33,291,980 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AACTCCACCTTCCCTGGAAATG -3'
(R):5'- TGCGTGAAATTTACAAGTGGAC -3'

Sequencing Primer
(F):5'- TGCATCTAACGAGCCTGTATG -3'
(R):5'- GAAATTTACAAGTGGACATCTTCCCC -3'

Posted On

2019-11-12