Incidental Mutation 'R4955:Slc5a1'
ID 381525
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 042552-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.181) question?
Stock # R4955 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 33261563-33320043 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 33318246 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 633 (M633T)
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: M633T

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000011178
Gene: ENSMUSG00000011034
AA Change: M633T

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 0.1875 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 100% (50/50)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik G C 1: 120,096,840 (GRCm39) probably benign Het
3110009E18Rik C T 1: 120,096,850 (GRCm39) probably benign Het
3110009E18Rik G T 1: 120,096,849 (GRCm39) probably benign Het
4933407L21Rik T A 1: 85,859,008 (GRCm39) probably benign Het
Abca8a T G 11: 109,927,338 (GRCm39) E1338D probably benign Het
Arl2bp G A 8: 95,397,056 (GRCm39) probably null Het
Arsj T C 3: 126,232,189 (GRCm39) Y312H probably benign Het
Atp8b2 G T 3: 89,860,227 (GRCm39) probably benign Het
Cdh20 T C 1: 104,912,528 (GRCm39) V594A probably damaging Het
Cfap44 T A 16: 44,295,640 (GRCm39) V1646E possibly damaging Het
Csmd3 A T 15: 48,536,914 (GRCm39) I96K probably damaging Het
Fbn2 T C 18: 58,191,455 (GRCm39) Q1556R possibly damaging Het
Fstl5 T A 3: 76,131,183 (GRCm39) probably null Het
H4c9 T A 13: 22,225,355 (GRCm39) I47F probably damaging Het
Hivep2 T A 10: 14,006,702 (GRCm39) M1100K probably benign Het
Ing4 C T 6: 125,025,164 (GRCm39) A225V probably damaging Het
Kcnc3 CTT CT 7: 44,240,720 (GRCm39) probably null Het
Khdrbs2 T A 1: 32,559,158 (GRCm39) probably benign Het
Kif21a A T 15: 90,821,393 (GRCm39) W1566R probably damaging Het
Lrfn5 A C 12: 61,886,764 (GRCm39) D184A probably benign Het
Mettl2 C T 11: 105,028,605 (GRCm39) T319I possibly damaging Het
Mgrn1 T C 16: 4,752,083 (GRCm39) V529A probably benign Het
Naca T A 10: 127,878,084 (GRCm39) probably benign Het
Ninj2 A G 6: 120,174,907 (GRCm39) N26S probably damaging Het
Nqo1 A G 8: 108,115,489 (GRCm39) S263P probably benign Het
Obscn T C 11: 58,959,998 (GRCm39) T3566A probably benign Het
Opn5 A T 17: 42,922,129 (GRCm39) F24L probably damaging Het
Or14j8 T C 17: 38,263,789 (GRCm39) N42S probably damaging Het
Or2t43 A G 11: 58,457,344 (GRCm39) Y276H probably damaging Het
Or4k41 A T 2: 111,279,950 (GRCm39) H155L probably damaging Het
Or52a20 A T 7: 103,365,912 (GRCm39) Y37F probably benign Het
Palmd A G 3: 116,717,873 (GRCm39) V208A probably damaging Het
Plekhd1 T A 12: 80,768,795 (GRCm39) I426N possibly damaging Het
Polq T G 16: 36,881,444 (GRCm39) Y1203D probably benign Het
Prex1 A G 2: 166,415,143 (GRCm39) F251S probably damaging Het
Prkd3 T C 17: 79,260,156 (GRCm39) M816V probably null Het
Rab3gap2 C T 1: 184,999,352 (GRCm39) probably benign Het
Rcan2 C A 17: 44,347,972 (GRCm39) P13Q probably damaging Het
Slc35b3 A G 13: 39,116,866 (GRCm39) V329A probably benign Het
Stac2 A C 11: 97,934,374 (GRCm39) L110R possibly damaging Het
Styxl2 T C 1: 165,935,661 (GRCm39) Y179C probably damaging Het
Tecpr1 T C 5: 144,154,075 (GRCm39) E126G probably damaging Het
Ttll6 A G 11: 96,029,615 (GRCm39) D176G possibly damaging Het
Utrn C T 10: 12,737,311 (GRCm39) probably null Het
Zfp341 T C 2: 154,479,950 (GRCm39) V467A probably damaging 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
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
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'- ACTCCACCTTCCCTGGAAATG -3'
(R):5'- TGCGTGAAATTTACAAGTGGAC -3'

Sequencing Primer
(F):5'- GAAATGCTTTCCCGTGCCTCTAG -3'
(R):5'- GAAATTTACAAGTGGACATCTTCCCC -3'
Posted On 2016-04-27