Incidental Mutation 'IGL01404:Slc2a1'
ID79757
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 #IGL01404
Quality Score
Status
Chromosome4
Chromosomal Location119108711-119137983 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 119132238 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 45 (M45K)
Ref Sequence ENSEMBL: ENSMUSP00000146958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030398] [ENSMUST00000134105] [ENSMUST00000144329] [ENSMUST00000174372] [ENSMUST00000208090]
Predicted Effect possibly damaging
Transcript: ENSMUST00000030398
AA Change: M77K

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000030398
Gene: ENSMUSG00000028645
AA Change: M77K

DomainStartEndE-ValueType
Pfam:Sugar_tr 16 467 1e-164 PFAM
Pfam:MFS_1 24 418 1.6e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000134105
AA Change: M73K

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000118641
Gene: ENSMUSG00000028645
AA Change: M73K

DomainStartEndE-ValueType
Pfam:Sugar_tr 12 128 7.7e-34 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143801
Predicted Effect possibly damaging
Transcript: ENSMUST00000144329
AA Change: M65K

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000134126
Gene: ENSMUSG00000028645
AA Change: M65K

DomainStartEndE-ValueType
Pfam:Sugar_tr 4 123 1.5e-35 PFAM
Pfam:MFS_1 5 123 3.4e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151216
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157927
Predicted Effect possibly damaging
Transcript: ENSMUST00000174372
AA Change: M77K

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000134714
Gene: ENSMUSG00000028645
AA Change: M77K

DomainStartEndE-ValueType
Pfam:Sugar_tr 16 173 9.3e-53 PFAM
Pfam:MFS_1 18 172 1.5e-10 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000208090
AA Change: M45K

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,164,378 probably null Het
4921524L21Rik T C 18: 6,638,653 S351P possibly damaging Het
Ablim3 A G 18: 61,871,683 Y12H probably damaging Het
Adam2 C T 14: 66,077,210 probably null Het
Adgre4 A T 17: 55,797,639 N235I possibly damaging Het
Aldh3b1 A C 19: 3,921,205 V153G probably benign Het
B430306N03Rik A G 17: 48,321,073 Y177C probably damaging Het
Cast A T 13: 74,738,287 Y249* probably null Het
Cfap43 T C 19: 47,795,666 D476G probably benign Het
Cpa4 T C 6: 30,581,702 I216T possibly damaging Het
Cpeb3 T C 19: 37,088,548 D407G probably benign Het
Ctnnal1 T C 4: 56,829,590 D413G probably damaging Het
Cyb5a A G 18: 84,877,860 S84G probably benign Het
Dpy19l4 C A 4: 11,273,006 probably null Het
Erbin A T 13: 103,839,464 S641T probably damaging Het
Espn T A 4: 152,138,444 T326S probably benign Het
Extl1 T C 4: 134,359,203 M514V probably benign Het
Fancc G A 13: 63,361,638 L134F probably damaging Het
Fis1 C T 5: 136,965,974 A90V probably benign Het
Gdi2 A G 13: 3,564,611 T319A probably benign Het
Gjc3 A G 5: 137,957,858 F55S probably damaging Het
Gm10762 C T 2: 128,967,085 probably benign Het
Got1 A G 19: 43,504,609 I291T possibly damaging Het
Gpr179 C A 11: 97,338,186 G1048* probably null Het
Ino80 T A 2: 119,456,718 D56V possibly damaging Het
Kcp C A 6: 29,496,639 C624F probably damaging Het
Kctd1 T A 18: 14,969,553 Q857L probably damaging Het
Lins1 G A 7: 66,713,928 V524I probably damaging Het
Lrp1 A T 10: 127,595,032 Y383N probably damaging Het
Mgam A C 6: 40,644,945 K84Q probably benign Het
Mib2 T A 4: 155,654,936 E862V probably damaging Het
Myh1 G T 11: 67,222,151 R1827L possibly damaging Het
Myh10 T C 11: 68,752,040 probably null Het
Myo1e A G 9: 70,337,766 Y382C probably benign Het
Nktr G A 9: 121,741,152 probably null Het
Nlrc4 A G 17: 74,445,711 I559T probably damaging Het
Nod2 A T 8: 88,663,736 M224L probably benign Het
Olfr175-ps1 G A 16: 58,824,595 T38I probably damaging Het
Olfr658 A T 7: 104,644,480 Y295* probably null Het
Olfr984 A G 9: 40,101,262 I76T probably benign Het
Pex7 G T 10: 19,894,811 probably benign Het
Ptprb A T 10: 116,339,436 D1112V probably benign Het
Rubcn G A 16: 32,827,296 T636M probably damaging Het
Scn5a A C 9: 119,486,470 L1724R probably damaging Het
Sec14l2 T C 11: 4,116,710 D34G possibly damaging Het
Serpina3k A G 12: 104,340,623 D38G probably benign Het
Sh3bgr A C 16: 96,206,490 K18N probably damaging Het
Sh3bp5l A T 11: 58,346,060 H281L probably benign Het
Slc28a2 T G 2: 122,452,057 I287M probably damaging Het
Syt11 A G 3: 88,762,216 I123T probably benign Het
Tfg C A 16: 56,694,493 probably benign Het
Tmem177 T C 1: 119,910,061 D296G probably damaging Het
Trabd2b A G 4: 114,599,956 I357V probably benign Het
Trp63 C A 16: 25,820,385 probably benign Het
Ugt1a8 T C 1: 88,087,895 L10P probably benign Het
Vmn2r103 A G 17: 19,812,434 I823M probably damaging Het
Vmn2r45 T C 7: 8,481,468 N446S probably damaging Het
Vps13c A T 9: 67,913,204 probably null Het
Vwa3b C T 1: 37,154,036 T11I probably benign Het
Vwf A C 6: 125,677,970 Q2543P probably damaging Het
Yap1 G A 9: 7,934,741 probably benign Het
Zfp282 A C 6: 47,897,836 D325A probably damaging Het
Zfyve9 T G 4: 108,682,151 Y975S probably damaging Het
Other mutations in Slc2a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01876:Slc2a1 APN 4 119133378 missense probably benign 0.11
IGL02355:Slc2a1 APN 4 119136415 missense possibly damaging 0.61
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
Posted On2013-11-05