Incidental Mutation 'R0791:Slc5a1'
ID 82388
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 038971-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.181) question?
Stock # R0791 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 33261563-33320043 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 33315421 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000011178
Gene: ENSMUSG00000011034

DomainStartEndE-ValueType
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 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 94.8%
Validation Efficiency 98% (59/60)
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak G A 19: 8,994,098 (GRCm39) M5127I probably benign Het
Akr1c13 T C 13: 4,244,111 (GRCm39) Y55H probably damaging Het
Armh3 A T 19: 45,922,307 (GRCm39) probably null Het
Atp2b2 C T 6: 113,750,349 (GRCm39) R625H probably damaging Het
Bpifb2 T C 2: 153,720,439 (GRCm39) V66A probably benign Het
Ccdc33 T C 9: 57,936,046 (GRCm39) T950A possibly damaging Het
Ceacam19 A T 7: 19,616,557 (GRCm39) probably null Het
Cenpn T A 8: 117,667,559 (GRCm39) probably benign Het
Ces1f A T 8: 93,998,517 (GRCm39) Y160N possibly damaging Het
Clca3a1 A C 3: 144,710,615 (GRCm39) S863A probably benign Het
Cntrl T A 2: 35,045,291 (GRCm39) I781K possibly damaging Het
Dock4 C T 12: 40,754,480 (GRCm39) R490W probably damaging Het
Evpl T A 11: 116,118,549 (GRCm39) Q686L probably damaging Het
Fbxw10 A G 11: 62,738,282 (GRCm39) S59G probably benign Het
Glb1l2 A G 9: 26,681,047 (GRCm39) V218A possibly damaging Het
Gpatch1 A T 7: 34,980,801 (GRCm39) probably benign Het
Grin2c G A 11: 115,141,472 (GRCm39) P882L probably damaging Het
H2-Ob C A 17: 34,461,588 (GRCm39) T109N probably damaging Het
Ipo8 A G 6: 148,723,225 (GRCm39) V64A possibly damaging Het
Jpt2 C A 17: 25,167,647 (GRCm39) A101S probably benign Het
Lamc1 C A 1: 153,110,326 (GRCm39) Q1116H possibly damaging Het
Lamc1 T C 1: 153,110,358 (GRCm39) S1106G probably benign Het
Lamc1 T G 1: 153,110,341 (GRCm39) Q1111H probably damaging Het
Large1 A G 8: 73,775,107 (GRCm39) probably benign Het
Lig4 A T 8: 10,023,012 (GRCm39) V256E possibly damaging Het
Mpz C A 1: 170,986,343 (GRCm39) Q86K possibly damaging Het
Mrps24 A G 11: 5,654,684 (GRCm39) V90A possibly damaging Het
Mtdh A G 15: 34,116,528 (GRCm39) probably benign Het
Mtor T C 4: 148,547,367 (GRCm39) V450A probably benign Het
Mycbpap A G 11: 94,402,449 (GRCm39) probably null Het
Myo6 T A 9: 80,169,656 (GRCm39) probably benign Het
Myom1 A T 17: 71,428,131 (GRCm39) I1450F probably damaging Het
Nbas T A 12: 13,532,634 (GRCm39) S1781T probably benign Het
Nedd1 T C 10: 92,555,476 (GRCm39) E3G probably damaging Het
Nt5c3 T C 6: 56,863,734 (GRCm39) T149A probably benign Het
Or5p56 A G 7: 107,589,740 (GRCm39) H56R probably benign Het
Osbp2 G A 11: 3,661,882 (GRCm39) probably benign Het
Paip1 T C 13: 119,566,854 (GRCm39) S54P possibly damaging Het
Pole2 G A 12: 69,254,703 (GRCm39) L381F probably benign Het
Prdm14 G T 1: 13,195,968 (GRCm39) A31E probably benign Het
Ptpn14 C T 1: 189,568,637 (GRCm39) probably benign Het
Rims2 A G 15: 39,543,021 (GRCm39) probably benign Het
Rnf20 A G 4: 49,638,197 (GRCm39) N103S possibly damaging Het
Sema3g T A 14: 30,942,861 (GRCm39) probably benign Het
Slc30a6 T C 17: 74,722,640 (GRCm39) S236P possibly damaging Het
Snx25 A T 8: 46,577,119 (GRCm39) M1K probably null Het
Synpo2 A G 3: 122,906,835 (GRCm39) V827A probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trak2 A T 1: 58,942,820 (GRCm39) M862K probably benign Het
Trim42 A T 9: 97,247,732 (GRCm39) H321Q probably damaging Het
Twnk T C 19: 44,998,693 (GRCm39) probably benign Het
Tymp T C 15: 89,259,021 (GRCm39) K221R probably damaging Het
Uaca C A 9: 60,779,341 (GRCm39) Q1243K possibly damaging Het
Vwa8 T C 14: 79,232,016 (GRCm39) probably benign Het
Wnt4 C T 4: 137,016,594 (GRCm39) R83W probably damaging Het
Zfp820 T C 17: 22,038,509 (GRCm39) D273G probably benign Het
Zfp974 A T 7: 27,609,510 (GRCm39) Y738* probably null Het
Zkscan4 A C 13: 21,668,081 (GRCm39) E177D probably benign Het
Other mutations in Slc5a1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TCCAGGATACCATGTTGCCGGAAC -3'
(R):5'- GGCAGGAACACTCTCAAGTGGATAC -3'

Sequencing Primer
(F):5'- TTGCCGGAACAACTAAGATAGTCTC -3'
(R):5'- agatggtgatgacgctgatg -3'
Posted On 2013-11-08