Incidental Mutation 'R0314:Slc5a1'
ID 25366
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 038524-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.181) question?
Stock # R0314 (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 33303995 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 270 (I270T)
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: I270T

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000011178
Gene: ENSMUSG00000011034
AA Change: I270T

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000117311
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202802
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.9%
  • 20x: 88.7%
Validation Efficiency 100% (41/41)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arih2 T C 9: 108,485,878 (GRCm39) N345D probably damaging Het
Ascc3 C T 10: 50,514,095 (GRCm39) S298L possibly damaging Het
Cacna1e A G 1: 154,317,997 (GRCm39) Y1462H probably damaging Het
Car9 T C 4: 43,509,212 (GRCm39) probably null Het
Cenpc1 A T 5: 86,185,230 (GRCm39) M427K probably benign Het
Chl1 T A 6: 103,624,262 (GRCm39) C57S probably damaging Het
Cntn3 T C 6: 102,397,342 (GRCm39) Y77C probably damaging Het
Cobll1 T C 2: 64,919,865 (GRCm39) K1187E possibly damaging Het
Fkbpl C T 17: 34,865,026 (GRCm39) H265Y possibly damaging Het
Fmo1 T G 1: 162,687,031 (GRCm39) E32A probably damaging Het
Fnip2 G A 3: 79,388,496 (GRCm39) T715I probably damaging Het
Fzd6 T A 15: 38,889,128 (GRCm39) I82K possibly damaging Het
Grm5 T C 7: 87,252,163 (GRCm39) S138P probably damaging Het
Klra5 T C 6: 129,880,553 (GRCm39) Y115C probably damaging Het
Lgr4 T C 2: 109,821,438 (GRCm39) probably benign Het
Limd1 T G 9: 123,345,892 (GRCm39) I557S probably benign Het
Mpv17l A T 16: 13,758,863 (GRCm39) I96L probably benign Het
Neb A T 2: 52,133,343 (GRCm39) D3398E probably benign Het
Nup155 T C 15: 8,176,736 (GRCm39) S1005P probably benign Het
Or2v2 A T 11: 49,004,519 (GRCm39) D11E possibly damaging Het
Or52a5b T C 7: 103,417,388 (GRCm39) D72G probably damaging Het
Pebp4 G T 14: 70,297,103 (GRCm39) S214I possibly damaging Het
Pex26 T C 6: 121,161,443 (GRCm39) probably null Het
Rbbp8 A T 18: 11,848,875 (GRCm39) Q230L probably benign Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Robo2 G A 16: 73,753,525 (GRCm39) T784M probably damaging Het
Spag4 C T 2: 155,909,229 (GRCm39) probably benign Het
Stt3a T C 9: 36,660,841 (GRCm39) probably benign Het
Svep1 C T 4: 58,096,331 (GRCm39) E1430K possibly damaging Het
Timd5 G A 11: 46,419,364 (GRCm39) C60Y probably damaging Het
Uba6 A T 5: 86,265,946 (GRCm39) V956E probably damaging Het
Ube2j1 T A 4: 33,043,991 (GRCm39) probably benign Het
Ubr5 A G 15: 37,997,431 (GRCm39) S1741P probably damaging Het
Vmn2r1 A G 3: 63,993,980 (GRCm39) T109A probably damaging Het
Vmn2r60 T C 7: 41,784,985 (GRCm39) probably benign Het
Vstm2a A G 11: 16,318,388 (GRCm39) probably benign Het
Zdhhc20 T A 14: 58,094,076 (GRCm39) K195N probably damaging Het
Zfp683 A G 4: 133,786,052 (GRCm39) Y393C probably benign Het
Zzz3 T C 3: 152,133,085 (GRCm39) S48P 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
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
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'- AAGAGCCTTCTTGCCAGCCTTG -3'
(R):5'- AGAGGCATCGCTGCACAATGAC -3'

Sequencing Primer
(F):5'- GGGAAGATAATTTGTCCCAAACC -3'
(R):5'- GCTGCACAATGACCTGCC -3'
Posted On 2013-04-16