Incidental Mutation 'IGL01404:Slc2a1'
ID 79757
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc2a1
Ensembl Gene ENSMUSG00000028645
Gene Name solute carrier family 2 (facilitated glucose transporter), member 1
Synonyms Glut-1, Glut1, M100200, Rgsc200
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01404
Quality Score
Status
Chromosome 4
Chromosomal Location 118965942-118994527 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 118989435 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P17809
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: 71,211,152 (GRCm39) probably null Het
4921524L21Rik T C 18: 6,638,653 (GRCm39) S351P possibly damaging Het
Ablim3 A G 18: 62,004,754 (GRCm39) Y12H probably damaging Het
Adam2 C T 14: 66,314,659 (GRCm39) probably null Het
Adgre4 A T 17: 56,104,639 (GRCm39) N235I possibly damaging Het
Aldh3b1 A C 19: 3,971,205 (GRCm39) V153G probably benign Het
B430306N03Rik A G 17: 48,628,101 (GRCm39) Y177C probably damaging Het
Cast A T 13: 74,886,406 (GRCm39) Y249* probably null Het
Cfap43 T C 19: 47,784,105 (GRCm39) D476G probably benign Het
Cpa4 T C 6: 30,581,701 (GRCm39) I216T possibly damaging Het
Cpeb3 T C 19: 37,065,948 (GRCm39) D407G probably benign Het
Ctnnal1 T C 4: 56,829,590 (GRCm39) D413G probably damaging Het
Cyb5a A G 18: 84,895,985 (GRCm39) S84G probably benign Het
Dpy19l4 C A 4: 11,273,006 (GRCm39) probably null Het
Erbin A T 13: 103,975,972 (GRCm39) S641T probably damaging Het
Espn T A 4: 152,222,901 (GRCm39) T326S probably benign Het
Extl1 T C 4: 134,086,514 (GRCm39) M514V probably benign Het
Fancc G A 13: 63,509,452 (GRCm39) L134F probably damaging Het
Fis1 C T 5: 136,994,828 (GRCm39) A90V probably benign Het
Gdi2 A G 13: 3,614,611 (GRCm39) T319A probably benign Het
Gjc3 A G 5: 137,956,120 (GRCm39) F55S probably damaging Het
Gm10762 C T 2: 128,809,005 (GRCm39) probably benign Het
Got1 A G 19: 43,493,048 (GRCm39) I291T possibly damaging Het
Gpr179 C A 11: 97,229,012 (GRCm39) G1048* probably null Het
Ino80 T A 2: 119,287,199 (GRCm39) D56V possibly damaging Het
Kcp C A 6: 29,496,638 (GRCm39) C624F probably damaging Het
Kctd1 T A 18: 15,102,610 (GRCm39) Q857L probably damaging Het
Lins1 G A 7: 66,363,676 (GRCm39) V524I probably damaging Het
Lrp1 A T 10: 127,430,901 (GRCm39) Y383N probably damaging Het
Mgam A C 6: 40,621,879 (GRCm39) K84Q probably benign Het
Mib2 T A 4: 155,739,393 (GRCm39) E862V probably damaging Het
Myh1 G T 11: 67,112,977 (GRCm39) R1827L possibly damaging Het
Myh10 T C 11: 68,642,866 (GRCm39) probably null Het
Myo1e A G 9: 70,245,048 (GRCm39) Y382C probably benign Het
Nktr G A 9: 121,570,218 (GRCm39) probably null Het
Nlrc4 A G 17: 74,752,706 (GRCm39) I559T probably damaging Het
Nod2 A T 8: 89,390,364 (GRCm39) M224L probably benign Het
Or4d5 A G 9: 40,012,558 (GRCm39) I76T probably benign Het
Or52n4 A T 7: 104,293,687 (GRCm39) Y295* probably null Het
Or5k8 G A 16: 58,644,958 (GRCm39) T38I probably damaging Het
Pex7 G T 10: 19,770,557 (GRCm39) probably benign Het
Ptprb A T 10: 116,175,341 (GRCm39) D1112V probably benign Het
Rubcn G A 16: 32,647,666 (GRCm39) T636M probably damaging Het
Scn5a A C 9: 119,315,536 (GRCm39) L1724R probably damaging Het
Sec14l2 T C 11: 4,066,710 (GRCm39) D34G possibly damaging Het
Serpina3k A G 12: 104,306,882 (GRCm39) D38G probably benign Het
Sh3bgr A C 16: 96,007,690 (GRCm39) K18N probably damaging Het
Sh3bp5l A T 11: 58,236,886 (GRCm39) H281L probably benign Het
Slc28a2 T G 2: 122,282,538 (GRCm39) I287M probably damaging Het
Syt11 A G 3: 88,669,523 (GRCm39) I123T probably benign Het
Tfg C A 16: 56,514,856 (GRCm39) probably benign Het
Tmem177 T C 1: 119,837,791 (GRCm39) D296G probably damaging Het
Trabd2b A G 4: 114,457,153 (GRCm39) I357V probably benign Het
Trp63 C A 16: 25,639,135 (GRCm39) probably benign Het
Ugt1a8 T C 1: 88,015,617 (GRCm39) L10P probably benign Het
Vmn2r103 A G 17: 20,032,696 (GRCm39) I823M probably damaging Het
Vmn2r45 T C 7: 8,484,467 (GRCm39) N446S probably damaging Het
Vps13c A T 9: 67,820,486 (GRCm39) probably null Het
Vwa3b C T 1: 37,193,117 (GRCm39) T11I probably benign Het
Vwf A C 6: 125,654,933 (GRCm39) Q2543P probably damaging Het
Yap1 G A 9: 7,934,742 (GRCm39) probably benign Het
Zfp282 A C 6: 47,874,770 (GRCm39) D325A probably damaging Het
Zfyve9 T G 4: 108,539,348 (GRCm39) Y975S probably damaging Het
Other mutations in Slc2a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R8236:Slc2a1 UTSW 4 118,990,454 (GRCm39) missense probably benign 0.00
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
Posted On 2013-11-05