Mutagenetix > Incidental Mutation

Incidental Mutation 'R0421:Slc5a1'

37050

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

038623-MU

Accession Numbers

Essential gene?

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

Stock #

R0421 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33261563-33320043 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 33291996 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 141 (I141N)

Ref Sequence

ENSEMBL: ENSMUSP00000011178 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000011178
AA Change: I141N

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

SMART Domains

Protein: ENSMUSP00000011178
Gene: ENSMUSG00000011034
AA Change: I141N

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

0.8643

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.4%
20x: 92.7%

Validation Efficiency

97% (67/69)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi1	G	A	2: 22,850,839 (GRCm39)	T195I	probably damaging	Het
Afap1l1	T	C	18: 61,884,945 (GRCm39)	N180S	probably damaging	Het
Arsg	A	G	11: 109,418,592 (GRCm39)	Y196C	probably damaging	Het
Ascc3	G	T	10: 50,625,022 (GRCm39)	V1637L	probably benign	Het
Atp2b2	C	A	6: 113,790,849 (GRCm39)	R185L	probably damaging	Het
Ccr9	A	T	9: 123,608,671 (GRCm39)	M118L	probably benign	Het
Cdh12	A	T	15: 21,480,310 (GRCm39)		probably null	Het
Cdk13	T	C	13: 17,937,755 (GRCm39)	S763G	probably damaging	Het
Cenpk	C	A	13: 104,378,911 (GRCm39)	N177K	probably benign	Het
Cfap43	T	G	19: 47,824,014 (GRCm39)	N119T	probably benign	Het
Chrna6	T	C	8: 27,898,415 (GRCm39)	E101G	probably null	Het
Clasp2	G	A	9: 113,683,370 (GRCm39)	R400H	probably benign	Het
Col6a6	T	C	9: 105,661,405 (GRCm39)	M235V	probably benign	Het
Ddx49	A	T	8: 70,748,282 (GRCm39)	L291Q	probably damaging	Het
Dhrs7	A	T	12: 72,699,860 (GRCm39)		probably benign	Het
Dnah5	A	T	15: 28,229,687 (GRCm39)	K107M	possibly damaging	Het
Dsg2	C	T	18: 20,712,448 (GRCm39)	R151C	probably damaging	Het
Dsn1	T	C	2: 156,847,789 (GRCm39)	T2A	possibly damaging	Het
Edem3	A	G	1: 151,668,189 (GRCm39)		probably benign	Het
Eif3c	T	C	7: 126,162,884 (GRCm39)	N133S	possibly damaging	Het
F10	A	G	8: 13,095,097 (GRCm39)	K85E	probably benign	Het
Fbn2	T	A	18: 58,160,876 (GRCm39)		probably benign	Het
Gtpbp10	A	T	5: 5,607,290 (GRCm39)	H50Q	probably benign	Het
Hephl1	A	G	9: 14,970,456 (GRCm39)	F1013L	probably benign	Het
Hps3	C	A	3: 20,083,480 (GRCm39)	V238F	probably benign	Het
Kcna10	A	C	3: 107,101,820 (GRCm39)	K150N	probably damaging	Het
Kirrel1	C	T	3: 86,990,914 (GRCm39)	G636D	probably damaging	Het
Kndc1	G	A	7: 139,488,912 (GRCm39)	R189H	probably damaging	Het
Knop1	C	T	7: 118,454,852 (GRCm39)	E50K	possibly damaging	Het
Kplce	T	C	3: 92,776,291 (GRCm39)	T131A	probably damaging	Het
Kpna7	T	A	5: 144,926,551 (GRCm39)	H467L	possibly damaging	Het
Lcn4	T	C	2: 26,558,661 (GRCm39)	N142D	possibly damaging	Het
Map3k3	T	C	11: 106,039,741 (GRCm39)		probably benign	Het
Mdn1	A	G	4: 32,684,707 (GRCm39)	T806A	probably benign	Het
Nbeal1	T	A	1: 60,307,598 (GRCm39)	N1703K	probably benign	Het
Neurl4	T	C	11: 69,799,360 (GRCm39)	V914A	probably damaging	Het
Niban1	T	A	1: 151,584,833 (GRCm39)		probably benign	Het
Nop56	T	C	2: 130,118,692 (GRCm39)	S275P	possibly damaging	Het
Or1j20	A	G	2: 36,759,653 (GRCm39)	E25G	possibly damaging	Het
Or52ac1	A	G	7: 104,245,929 (GRCm39)	V153A	probably benign	Het
Or7e174	A	G	9: 20,012,771 (GRCm39)	K239E	probably damaging	Het
Otof	A	C	5: 30,528,912 (GRCm39)	I1827S	possibly damaging	Het
Pappa2	A	T	1: 158,675,650 (GRCm39)	I1032N	probably damaging	Het
Pcdh7	A	G	5: 57,877,402 (GRCm39)	E319G	probably damaging	Het
Pcdhb11	T	A	18: 37,555,533 (GRCm39)	S288T	probably benign	Het
Phip	A	T	9: 82,808,510 (GRCm39)	D488E	probably damaging	Het
Pla2g7	A	T	17: 43,922,303 (GRCm39)	H394L	probably damaging	Het
Plk3	A	G	4: 116,990,641 (GRCm39)	V69A	probably damaging	Het
Prob1	C	A	18: 35,786,083 (GRCm39)	A724S	possibly damaging	Het
Prune2	T	C	19: 17,100,675 (GRCm39)	F2060L	probably benign	Het
Rgl3	G	A	9: 21,887,328 (GRCm39)	R498C	probably benign	Het
Rnf213	A	C	11: 119,338,083 (GRCm39)	N3362H	probably damaging	Het
Sbds	A	G	5: 130,282,774 (GRCm39)		probably benign	Het
Scn9a	T	C	2: 66,373,621 (GRCm39)	S453G	probably benign	Het
Sh3rf3	T	C	10: 58,819,897 (GRCm39)	L236P	probably damaging	Het
Skint1	A	G	4: 111,876,211 (GRCm39)	N44S	possibly damaging	Het
Tlcd3b	G	A	7: 126,424,187 (GRCm39)	V44M	probably damaging	Het
Trank1	T	A	9: 111,220,907 (GRCm39)	I2548N	probably damaging	Het
Tsc22d2	G	A	3: 58,324,749 (GRCm39)		probably benign	Het
Unc13c	T	A	9: 73,840,492 (GRCm39)	I120F	possibly damaging	Het
Vmn2r11	T	G	5: 109,207,294 (GRCm39)	I9L	probably benign	Het
Vmn2r58	T	G	7: 41,514,628 (GRCm39)	N114H	probably benign	Het
Vps53	A	G	11: 75,973,496 (GRCm39)	L166P	probably damaging	Het
Zfp119a	T	A	17: 56,172,248 (GRCm39)	K532*	probably null	Het
Zfp472	A	G	17: 33,194,897 (GRCm39)	T11A	possibly damaging	Het
Zfp512b	T	A	2: 181,230,051 (GRCm39)	K87*	probably null	Het
Zfp518b	G	A	5: 38,831,918 (GRCm39)	P29L	probably damaging	Het
Zfp599	A	G	9: 22,161,843 (GRCm39)		probably benign	Het
Zic2	CCCACCACCACCATCACCACCACCACC	CCCACCATCACCACCACCACC	14: 122,713,776 (GRCm39)		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
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
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'- ATGCCATCTGGCTACTGTGTGGAC -3'
(R):5'- AGAGCAACCTTCTGCTGACTCTCC -3'

Sequencing Primer
(F):5'- GGTTGGCGgtgtgtgtg -3'
(R):5'- GACCCCTTGGTGCATAATACAG -3'

Posted On

2013-05-09