Mutagenetix > Incidental Mutation

Incidental Mutation 'R4826:Slc5a1'

374138

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

042442-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.181) question?

Stock #

R4826 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33261563-33320043 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33316494 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 580 (D580G)

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: D580G

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

SMART Domains

Protein: ENSMUSP00000011178
Gene: ENSMUSG00000011034
AA Change: D580G

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

100% (72/72)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 119,815,470 (GRCm39)	R239S	probably damaging	Het
Acin1	A	G	14: 54,902,074 (GRCm39)	S573P	probably damaging	Het
Acta2	A	T	19: 34,229,223 (GRCm39)	Y55*	probably null	Het
Aifm2	T	C	10: 61,561,768 (GRCm39)	M38T	probably benign	Het
Ank2	C	A	3: 126,749,650 (GRCm39)	V460L	probably benign	Het
Ap1b1	T	C	11: 4,968,043 (GRCm39)	S185P	probably benign	Het
Arsj	A	G	3: 126,232,451 (GRCm39)	Y399C	probably damaging	Het
Ciao3	A	G	17: 25,999,306 (GRCm39)	H240R	probably damaging	Het
Clec2d	T	C	6: 129,161,122 (GRCm39)	V73A	probably benign	Het
Cntln	T	G	4: 84,923,281 (GRCm39)	M582R	probably benign	Het
Cyp4a10	C	T	4: 115,375,541 (GRCm39)	P8L	probably benign	Het
Dip2b	A	G	15: 100,067,162 (GRCm39)	N555D	probably damaging	Het
Dusp4	T	A	8: 35,285,671 (GRCm39)	F311I	probably damaging	Het
Eif4g3	T	C	4: 137,905,256 (GRCm39)	V1245A	possibly damaging	Het
Ephb3	G	A	16: 21,033,745 (GRCm39)	R23H	possibly damaging	Het
Ext2	T	C	2: 93,592,975 (GRCm39)	T410A	probably benign	Het
Fam193a	A	G	5: 34,593,875 (GRCm39)	E124G	probably damaging	Het
Fat4	T	A	3: 39,037,106 (GRCm39)	V3586E	probably damaging	Het
Frmd4a	T	C	2: 4,606,108 (GRCm39)	S611P	probably damaging	Het
Gcn1	A	G	5: 115,731,752 (GRCm39)	T956A	probably benign	Het
Gm10549	C	A	18: 33,603,838 (GRCm39)	T107K	unknown	Het
Herc6	T	A	6: 57,624,072 (GRCm39)	M614K	probably benign	Het
Hspg2	T	C	4: 137,292,706 (GRCm39)	C4095R	probably damaging	Het
Hyal5	T	C	6: 24,891,575 (GRCm39)	I463T	possibly damaging	Het
Icam5	C	T	9: 20,949,099 (GRCm39)	A817V	possibly damaging	Het
Igf2r	A	T	17: 12,920,240 (GRCm39)	D1366E	probably damaging	Het
Ints7	G	A	1: 191,344,018 (GRCm39)	V553I	probably damaging	Het
Iqgap2	T	A	13: 95,899,783 (GRCm39)	I92F	probably damaging	Het
Itgb1	T	A	8: 129,446,789 (GRCm39)	C435S	probably damaging	Het
Lrrc71	T	C	3: 87,650,615 (GRCm39)	M216V	probably benign	Het
Mgam	T	C	6: 40,657,582 (GRCm39)	V979A	possibly damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Myh9	A	T	15: 77,673,146 (GRCm39)	Y400*	probably null	Het
Nbeal1	A	G	1: 60,290,501 (GRCm39)	R1033G	possibly damaging	Het
Nit1	T	C	1: 171,173,166 (GRCm39)		probably benign	Het
Nlrp1c-ps	A	G	11: 71,133,343 (GRCm39)		noncoding transcript	Het
Nt5c1a	T	C	4: 123,102,365 (GRCm39)	V97A	probably damaging	Het
Or12k5	A	G	2: 36,895,345 (GRCm39)	Y94H	probably damaging	Het
Or13a18	T	A	7: 140,190,232 (GRCm39)	M51K	probably benign	Het
Or1a1b	A	G	11: 74,097,157 (GRCm39)	M295T	possibly damaging	Het
Or56a5	G	T	7: 104,793,175 (GRCm39)	N108K	probably damaging	Het
Or9m1	T	A	2: 87,733,693 (GRCm39)	D109V	probably damaging	Het
Pde4a	T	A	9: 21,103,676 (GRCm39)		probably null	Het
Pkn2	T	C	3: 142,515,270 (GRCm39)	K640R	probably damaging	Het
Pla2g6	A	G	15: 79,192,879 (GRCm39)	S263P	possibly damaging	Het
Prkg1	A	G	19: 31,742,006 (GRCm39)	S73P	possibly damaging	Het
Prr27	A	C	5: 87,998,825 (GRCm39)		probably benign	Het
Rad54b	G	T	4: 11,599,753 (GRCm39)	W319L	probably damaging	Het
Rassf8	T	A	6: 145,762,276 (GRCm39)	L349H	probably damaging	Het
Rmc1	G	T	18: 12,318,836 (GRCm39)		probably benign	Het
Rnf113a2	T	A	12: 84,464,388 (GRCm39)	N93K	probably benign	Het
Sapcd2	C	T	2: 25,262,768 (GRCm39)	A109V	probably benign	Het
Slamf9	C	A	1: 172,304,008 (GRCm39)	H118N	probably benign	Het
Slc37a1	A	G	17: 31,541,147 (GRCm39)	Y213C	probably damaging	Het
Slc7a2	T	A	8: 41,364,083 (GRCm39)	I432N	probably damaging	Het
Tas2r114	A	T	6: 131,666,800 (GRCm39)	L76Q	probably damaging	Het
Tcerg1	C	T	18: 42,668,180 (GRCm39)	P391L	unknown	Het
Tdrd12	A	C	7: 35,203,582 (GRCm39)	V314G	probably benign	Het
Zbtb7b	A	G	3: 89,288,080 (GRCm39)	L246S	probably benign	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
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
R7734:Slc5a1	UTSW	5	33,318,279 (GRCm39)	missense	probably benign
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'- GGAGAGGCCATATTCTTTTCCTTTC -3'
(R):5'- ACTGACTCACTGAGTTCTGCC -3'

Sequencing Primer
(F):5'- GGCCATATTCTTTTCCTTTCTTGATG -3'
(R):5'- GCTGAGAGGTCAAAGTTTCCCATC -3'

Posted On

2016-03-01