Incidental Mutation 'IGL02355:Slc2a1'
ID289665
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc2a1
Ensembl Gene ENSMUSG00000028645
Gene Namesolute carrier family 2 (facilitated glucose transporter), member 1
SynonymsGlut1, Glut-1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02355
Quality Score
Status
Chromosome4
Chromosomal Location119108711-119137983 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 119136415 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 483 (F483S)
Ref Sequence ENSEMBL: ENSMUSP00000030398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030398] [ENSMUST00000134105] [ENSMUST00000144329] [ENSMUST00000174372] [ENSMUST00000208090]
Predicted Effect possibly damaging
Transcript: ENSMUST00000030398
AA Change: F483S

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000030398
Gene: ENSMUSG00000028645
AA Change: F483S

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 noncoding transcript
Transcript: ENSMUST00000143801
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
Coding Region Coverage
Validation Efficiency
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430A15Rik T C 2: 111,211,651 probably benign Het
Adam3 C A 8: 24,697,191 C428F probably damaging Het
Alas1 T C 9: 106,236,639 Y469C probably damaging Het
Asxl1 C T 2: 153,401,786 L1419F probably benign Het
Bcan C T 3: 87,994,142 D418N possibly damaging Het
Cdc42bpg A G 19: 6,310,809 D199G possibly damaging Het
Chst15 T C 7: 132,266,672 N340D probably benign Het
Col12a1 T G 9: 79,630,711 probably benign Het
Cyp2c67 T A 19: 39,643,405 H116L probably benign Het
Cyp2c67 G A 19: 39,617,382 R357* probably null Het
Ears2 T C 7: 122,044,550 D395G probably benign Het
Fam227a A T 15: 79,643,938 probably benign Het
Fap A G 2: 62,573,498 V11A probably benign Het
Ganc A G 2: 120,433,757 D397G probably damaging Het
Gjb6 C A 14: 57,124,295 G170C possibly damaging Het
Gm13023 A G 4: 143,793,010 S114G probably damaging Het
Gm8989 T C 7: 106,330,273 noncoding transcript Het
Gria2 A T 3: 80,706,937 W599R probably damaging Het
Ighv1-64 A G 12: 115,507,616 S94P probably benign Het
Kifc3 C T 8: 95,109,879 A85T probably damaging Het
Lifr G A 15: 7,164,693 probably null Het
Lonp2 T G 8: 86,624,246 S21R probably benign Het
Nxpe3 A G 16: 55,890,586 V30A probably benign Het
Olfml1 T C 7: 107,567,803 V13A probably benign Het
Olfr1490 T C 19: 13,655,233 V268A probably benign Het
Olfr366 A G 2: 37,219,669 Y60C probably damaging Het
Pcnt G A 10: 76,375,162 Q2376* probably null Het
Pglyrp2 A G 17: 32,417,022 L380P probably damaging Het
Plin3 A G 17: 56,286,636 V26A probably benign Het
Rims1 A G 1: 22,483,207 I470T probably damaging Het
Rora T C 9: 69,374,092 Y329H probably damaging Het
Scnn1b G A 7: 121,917,547 R503H probably damaging Het
Sec14l1 A G 11: 117,144,849 D237G possibly damaging Het
Selplg A G 5: 113,819,406 S280P probably benign Het
Serpina12 A G 12: 104,037,881 L164P probably benign Het
Sik2 C T 9: 50,917,603 W176* probably null Het
Speg A G 1: 75,423,915 D2573G possibly damaging Het
Stil C T 4: 115,010,111 S239L probably damaging Het
Tmem94 C A 11: 115,794,745 S941R probably damaging Het
Tnfrsf11b T A 15: 54,252,382 D273V probably damaging Het
Tns2 A G 15: 102,112,290 T864A probably benign Het
Zfpm2 A G 15: 41,099,494 H184R probably damaging Het
Other mutations in Slc2a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01404:Slc2a1 APN 4 119132238 missense possibly damaging 0.94
IGL01876:Slc2a1 APN 4 119133378 missense probably benign 0.11
IGL02362:Slc2a1 APN 4 119136415 missense possibly damaging 0.61
R1076:Slc2a1 UTSW 4 119134448 missense probably damaging 0.98
R1561:Slc2a1 UTSW 4 119136409 missense possibly damaging 0.86
R1616:Slc2a1 UTSW 4 119136306 missense probably damaging 1.00
R3015:Slc2a1 UTSW 4 119132143 missense probably damaging 1.00
R4166:Slc2a1 UTSW 4 119133116 missense probably damaging 0.97
R4795:Slc2a1 UTSW 4 119132445 missense probably damaging 0.99
R4796:Slc2a1 UTSW 4 119132445 missense probably damaging 0.99
R6025:Slc2a1 UTSW 4 119136342 missense possibly damaging 0.68
R7403:Slc2a1 UTSW 4 119132555 missense probably damaging 1.00
R7429:Slc2a1 UTSW 4 119136313 missense probably damaging 1.00
R7430:Slc2a1 UTSW 4 119136313 missense probably damaging 1.00
R7524:Slc2a1 UTSW 4 119132612 missense probably damaging 1.00
Posted On2015-04-16