Mutagenetix > Incidental Mutation

Incidental Mutation 'R4963:Slc5a1'

383707

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

042560-MU

Accession Numbers

Essential gene?

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

Stock #

R4963 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33261563-33320043 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 33318126 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 593 (T593I)

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: T593I

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

SMART Domains

Protein: ENSMUSP00000011178
Gene: ENSMUSG00000011034
AA Change: T593I

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

0.0631

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

97% (74/76)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	A	T	17: 48,470,582 (GRCm39)	I133N	probably benign	Het
Abca15	T	C	7: 119,960,142 (GRCm39)	S642P	probably damaging	Het
Abcg5	G	T	17: 84,967,569 (GRCm39)	Y410*	probably null	Het
Anapc7	T	A	5: 122,560,669 (GRCm39)	M10K	probably damaging	Het
Ank2	G	A	3: 126,825,745 (GRCm39)	T418M	probably benign	Het
Arhgap17	T	C	7: 122,907,583 (GRCm39)	R260G	possibly damaging	Het
Atp1a3	T	C	7: 24,694,051 (GRCm39)	T381A	probably damaging	Het
Cep89	T	G	7: 35,102,577 (GRCm39)	S97A	probably benign	Het
Cyp2j11	T	C	4: 96,204,619 (GRCm39)	D309G	probably damaging	Het
Dcbld2	T	C	16: 58,286,145 (GRCm39)	I768T	probably benign	Het
Defa41	C	T	8: 21,691,774 (GRCm39)	S52F	probably damaging	Het
Dgke	A	G	11: 88,941,628 (GRCm39)	V249A	possibly damaging	Het
Dnah9	T	C	11: 65,975,437 (GRCm39)		probably null	Het
Dnajc3	C	A	14: 119,215,585 (GRCm39)	H502N	probably benign	Het
Dsp	A	G	13: 38,381,846 (GRCm39)	T2265A	probably damaging	Het
Enpp6	A	G	8: 47,518,496 (GRCm39)	D208G	probably benign	Het
Evc	C	T	5: 37,479,393 (GRCm39)		probably null	Het
Fam98a	A	G	17: 75,845,977 (GRCm39)	S285P	probably damaging	Het
Glp2r	G	T	11: 67,648,419 (GRCm39)	Y94*	probably null	Het
Gsdmc	A	G	15: 63,676,229 (GRCm39)		probably null	Het
Gtpbp4	C	A	13: 9,035,253 (GRCm39)	D369Y	probably damaging	Het
H2-M1	A	G	17: 36,982,630 (GRCm39)	Y77H	probably benign	Het
Irx2	T	C	13: 72,780,729 (GRCm39)	V466A	possibly damaging	Het
Kcnh4	C	A	11: 100,643,079 (GRCm39)	W396L	probably damaging	Het
Kif27	T	C	13: 58,476,808 (GRCm39)	D614G	possibly damaging	Het
Kirrel2	C	A	7: 30,150,226 (GRCm39)		probably null	Het
Lcn5	A	G	2: 25,551,426 (GRCm39)	I182V	probably benign	Het
Ldb3	T	G	14: 34,288,815 (GRCm39)	S252R	probably damaging	Het
Marchf8	G	A	6: 116,363,232 (GRCm39)		probably benign	Het
Mdn1	C	A	4: 32,756,512 (GRCm39)	Q4735K	probably benign	Het
Mfrp	A	T	9: 44,014,561 (GRCm39)	H236L	probably benign	Het
Mlph	A	G	1: 90,867,112 (GRCm39)	D378G	probably damaging	Het
Msi1	T	A	5: 115,588,944 (GRCm39)	Y320N	probably damaging	Het
Mtmr11	T	C	3: 96,070,567 (GRCm39)		probably benign	Het
Mtpap	T	C	18: 4,375,638 (GRCm39)	V6A	probably benign	Het
Nedd1	C	A	10: 92,530,893 (GRCm39)	D399Y	probably damaging	Het
Ninl	A	G	2: 150,781,829 (GRCm39)	Y234H	probably benign	Het
Nkx3-1	G	A	14: 69,428,367 (GRCm39)	G72S	probably benign	Het
Nle1	A	G	11: 82,795,763 (GRCm39)	V228A	probably benign	Het
Npy4r	T	A	14: 33,868,973 (GRCm39)	D105V	probably damaging	Het
Or1f12	A	G	13: 21,722,152 (GRCm39)	Y8H	probably damaging	Het
Palld	C	T	8: 62,156,244 (GRCm39)	V464M	probably damaging	Het
Pclo	T	C	5: 14,719,235 (GRCm39)	V1124A	unknown	Het
Pex1	T	A	5: 3,659,924 (GRCm39)	M476K	probably benign	Het
Pkhd1l1	G	A	15: 44,367,421 (GRCm39)	S773N	probably benign	Het
Polrmt	A	G	10: 79,582,385 (GRCm39)	M1T	probably null	Het
Prmt9	A	G	8: 78,282,358 (GRCm39)	D85G	probably damaging	Het
Ptpn12	T	A	5: 21,220,706 (GRCm39)		probably null	Het
Rbm19	T	A	5: 120,279,631 (GRCm39)	M766K	probably damaging	Het
Rdh11	A	G	12: 79,235,380 (GRCm39)	V72A	probably benign	Het
Rxfp3	A	G	15: 11,036,367 (GRCm39)	V335A	probably damaging	Het
Sema6a	T	C	18: 47,431,318 (GRCm39)	K127E	possibly damaging	Het
Slco1a1	A	G	6: 141,868,825 (GRCm39)	F380L	probably benign	Het
Smc2	T	C	4: 52,450,826 (GRCm39)	S215P	probably damaging	Het
Smyd2	A	T	1: 189,614,385 (GRCm39)	V381E	probably damaging	Het
Smyd4	C	T	11: 75,273,120 (GRCm39)	S60L	probably benign	Het
Spata18	T	A	5: 73,836,336 (GRCm39)	V419E	probably damaging	Het
Terb1	A	G	8: 105,208,950 (GRCm39)	L376S	probably damaging	Het
Timd2	T	C	11: 46,573,617 (GRCm39)	E129G	possibly damaging	Het
Topbp1	C	A	9: 103,197,804 (GRCm39)	T461K	probably benign	Het
Tpp2	G	A	1: 44,031,428 (GRCm39)	R1069Q	probably damaging	Het
Ttn	A	G	2: 76,584,289 (GRCm39)	V22273A	probably damaging	Het
Tulp4	G	A	17: 6,249,088 (GRCm39)	E36K	probably damaging	Het
Uqcrfs1	A	T	13: 30,724,746 (GRCm39)	F265I	probably damaging	Het
Vmn2r107	A	T	17: 20,595,403 (GRCm39)	Q652L	probably damaging	Het
Vwf	C	T	6: 125,644,446 (GRCm39)	R2434*	probably null	Het
Wdhd1	A	G	14: 47,506,146 (GRCm39)	V256A	possibly damaging	Het
Zfp442	A	T	2: 150,250,415 (GRCm39)	C439S	probably damaging	Het
Zfp709	A	G	8: 72,643,632 (GRCm39)	T354A	probably benign	Het
Zswim2	A	T	2: 83,755,454 (GRCm39)	I149N	probably 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
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'- CCGAGGATGCAGAATTCAGTTC -3'
(R):5'- CATGGCAGAAGACAGCTACC -3'

Sequencing Primer
(F):5'- CTGCACTGCCTGGCACATAAATC -3'
(R):5'- CCAGCAGGATAATACCGTTGATGTTC -3'

Posted On

2016-04-27