Incidental Mutation 'R8236:Slc2a1'
ID 637345
Institutional Source Beutler Lab
Gene Symbol Slc2a1
Ensembl Gene ENSMUSG00000028645
Gene Name solute carrier family 2 (facilitated glucose transporter), member 1
Synonyms Glut-1, Glut1, M100200, Rgsc200
MMRRC Submission 067668-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8236 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 118965942-118994527 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 118990454 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 226 (S226T)
Ref Sequence ENSEMBL: ENSMUSP00000030398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030398] [ENSMUST00000134105] [ENSMUST00000144329] [ENSMUST00000174372] [ENSMUST00000208090]
AlphaFold P17809
Predicted Effect probably benign
Transcript: ENSMUST00000030398
AA Change: S226T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000030398
Gene: ENSMUSG00000028645
AA Change: S226T

DomainStartEndE-ValueType
Pfam:Sugar_tr 16 467 1e-164 PFAM
Pfam:MFS_1 24 418 1.6e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134105
SMART Domains Protein: ENSMUSP00000118641
Gene: ENSMUSG00000028645

DomainStartEndE-ValueType
Pfam:Sugar_tr 12 128 7.7e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144329
SMART Domains Protein: ENSMUSP00000134126
Gene: ENSMUSG00000028645

DomainStartEndE-ValueType
Pfam:Sugar_tr 4 123 1.5e-35 PFAM
Pfam:MFS_1 5 123 3.4e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174372
SMART Domains Protein: ENSMUSP00000134714
Gene: ENSMUSG00000028645

DomainStartEndE-ValueType
Pfam:Sugar_tr 16 173 9.3e-53 PFAM
Pfam:MFS_1 18 172 1.5e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000208090
Meta Mutation Damage Score 0.0745 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.5%
  • 20x: 98.8%
Validation Efficiency 100% (59/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a major glucose transporter in the mammalian blood-brain barrier. The encoded protein is found primarily in the cell membrane and on the cell surface, where it can also function as a receptor for human T-cell leukemia virus (HTLV) I and II. Mutations in this gene have been found in a family with paroxysmal exertion-induced dyskinesia. [provided by RefSeq, Apr 2013]
PHENOTYPE: Homozygous null embryos are small, lack visibly detectable eyes, show a diminutive rostral embryonic pole and an overall developmental delay, and die at E10-E14. Heterozygotes show spontaneous seizures, impaired motor performance, hypoglycorrhachia, microencephaly, and reduced brain glucose uptake. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810459M11Rik C T 1: 85,974,115 (GRCm39) A144V possibly damaging Het
Actr8 A G 14: 29,704,585 (GRCm39) I51M probably damaging Het
Afm A T 5: 90,671,747 (GRCm39) D143V probably damaging Het
Ankfy1 T A 11: 72,645,181 (GRCm39) S753R possibly damaging Het
Aven C T 2: 112,390,120 (GRCm39) R8W probably benign Het
Bicdl1 T C 5: 115,787,618 (GRCm39) H527R probably benign Het
Birc6 G C 17: 74,918,126 (GRCm39) L1845F probably damaging Het
Brip1 C A 11: 86,029,938 (GRCm39) D569Y probably damaging Het
Cab39 T C 1: 85,776,092 (GRCm39) L263P probably damaging Het
Cblb C A 16: 51,986,392 (GRCm39) P545Q possibly damaging Het
Cdk5rap2 G T 4: 70,160,722 (GRCm39) P1579Q probably benign Het
Cdt1 A G 8: 123,298,767 (GRCm39) E468G probably damaging Het
Col28a1 A G 6: 8,097,024 (GRCm39) probably null Het
Coro2a A G 4: 46,548,796 (GRCm39) I166T possibly damaging Het
Ctnnd2 G A 15: 30,647,164 (GRCm39) A287T probably benign Het
Dcc C T 18: 72,088,089 (GRCm39) V50I probably benign Het
Defb30 A T 14: 63,287,216 (GRCm39) M19K unknown Het
Dync2h1 C A 9: 7,080,363 (GRCm39) probably benign Het
Edc4 A G 8: 106,618,905 (GRCm39) T1291A possibly damaging Het
Epyc A T 10: 97,517,067 (GRCm39) N302Y probably damaging Het
Espn G A 4: 152,233,487 (GRCm39) T106I probably damaging Het
Fam135a T C 1: 24,059,729 (GRCm39) probably null Het
Fam171b G A 2: 83,710,550 (GRCm39) E741K probably damaging Het
Fgfr1 G T 8: 26,052,288 (GRCm39) E205* probably null Het
Flt3 A G 5: 147,293,670 (GRCm39) S469P probably benign Het
Gdpd3 A G 7: 126,367,838 (GRCm39) K224E probably benign Het
Gm10110 C T 14: 90,135,677 (GRCm39) V76M noncoding transcript Het
Gm43518 C T 5: 124,072,285 (GRCm39) Q17* probably null Het
Gm4353 T C 7: 115,682,618 (GRCm39) Y321C probably damaging Het
Gphn A G 12: 78,711,311 (GRCm39) H631R probably damaging Het
Hook1 T A 4: 95,903,042 (GRCm39) probably null Het
Il9 T A 13: 56,630,058 (GRCm39) probably benign Het
Itpr2 A G 6: 146,292,281 (GRCm39) probably null Het
Lhcgr A T 17: 89,050,014 (GRCm39) L504* probably null Het
Mical3 A G 6: 120,989,504 (GRCm39) V272A Het
Mup10 A G 4: 60,537,562 (GRCm39) I63T probably damaging Het
Mxi1 C G 19: 53,358,029 (GRCm39) P165R probably damaging Het
Nanog A T 6: 122,690,131 (GRCm39) I179F probably benign Het
Or5w14 T A 2: 87,542,104 (GRCm39) I49F possibly damaging Het
Or8b54 G A 9: 38,686,577 (GRCm39) V9M noncoding transcript Het
Pip A G 6: 41,824,596 (GRCm39) D28G probably damaging Het
Ppp2r3d T C 9: 124,440,067 (GRCm38) H53R Het
Psmd6 GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC 14: 14,119,882 (GRCm38) probably null Het
Ptpn4 A G 1: 119,606,552 (GRCm39) V781A possibly damaging Het
Ptprt C T 2: 161,528,988 (GRCm39) probably null Het
Rtf1 T C 2: 119,531,695 (GRCm39) S141P probably damaging Het
Smyd3 A C 1: 179,233,205 (GRCm39) probably null Het
Sos1 T C 17: 80,715,712 (GRCm39) E1015G probably benign Het
Sult1b1 G T 5: 87,669,383 (GRCm39) T155N probably damaging Het
Tcam1 A G 11: 106,177,243 (GRCm39) I412V probably benign Het
Tet2 G A 3: 133,193,547 (GRCm39) P296S probably benign Het
Tmem30c T C 16: 57,096,542 (GRCm39) D193G probably null Het
Trem2 G T 17: 48,658,934 (GRCm39) W233L probably benign Het
Trpm3 C A 19: 22,964,772 (GRCm39) D1422E probably benign Het
Ttbk1 T G 17: 46,781,655 (GRCm39) D366A probably damaging Het
Ttyh1 G A 7: 4,128,547 (GRCm39) G148D probably benign Het
Ubr2 T C 17: 47,262,835 (GRCm39) M1259V probably benign Het
Zfp608 T A 18: 55,032,281 (GRCm39) D553V probably damaging Het
Zkscan2 A G 7: 123,079,135 (GRCm39) S941P probably benign Het
Zranb1 T C 7: 132,551,393 (GRCm39) Y15H probably damaging Het
Other mutations in Slc2a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01404:Slc2a1 APN 4 118,989,435 (GRCm39) missense possibly damaging 0.94
IGL01876:Slc2a1 APN 4 118,990,575 (GRCm39) missense probably benign 0.11
IGL02355:Slc2a1 APN 4 118,993,612 (GRCm39) missense possibly damaging 0.61
IGL02362:Slc2a1 APN 4 118,993,612 (GRCm39) missense possibly damaging 0.61
R1076:Slc2a1 UTSW 4 118,991,645 (GRCm39) missense probably damaging 0.98
R1561:Slc2a1 UTSW 4 118,993,606 (GRCm39) missense possibly damaging 0.86
R1616:Slc2a1 UTSW 4 118,993,503 (GRCm39) missense probably damaging 1.00
R3015:Slc2a1 UTSW 4 118,989,340 (GRCm39) missense probably damaging 1.00
R4166:Slc2a1 UTSW 4 118,990,313 (GRCm39) missense probably damaging 0.97
R4795:Slc2a1 UTSW 4 118,989,642 (GRCm39) missense probably damaging 0.99
R4796:Slc2a1 UTSW 4 118,989,642 (GRCm39) missense probably damaging 0.99
R6025:Slc2a1 UTSW 4 118,993,539 (GRCm39) missense possibly damaging 0.68
R7403:Slc2a1 UTSW 4 118,989,752 (GRCm39) missense probably damaging 1.00
R7429:Slc2a1 UTSW 4 118,993,510 (GRCm39) missense probably damaging 1.00
R7430:Slc2a1 UTSW 4 118,993,510 (GRCm39) missense probably damaging 1.00
R7524:Slc2a1 UTSW 4 118,989,809 (GRCm39) missense probably damaging 1.00
R7692:Slc2a1 UTSW 4 118,993,462 (GRCm39) missense probably damaging 1.00
R7768:Slc2a1 UTSW 4 118,989,644 (GRCm39) missense probably damaging 1.00
R7845:Slc2a1 UTSW 4 118,993,125 (GRCm39) missense possibly damaging 0.91
R9037:Slc2a1 UTSW 4 118,993,494 (GRCm39) missense probably damaging 1.00
R9275:Slc2a1 UTSW 4 118,990,607 (GRCm39) missense probably benign 0.05
R9278:Slc2a1 UTSW 4 118,990,607 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- ATGGATACTGGAGTAGGGCC -3'
(R):5'- GCTCCAAGATGGTGACCTTCTTC -3'

Sequencing Primer
(F):5'- AGGGCACTCACAGTCCCTG -3'
(R):5'- AAGATGGTGACCTTCTTCTCCCG -3'
Posted On 2020-07-13