Incidental Mutation 'IGL02892:Slc2a6'
ID 363228
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc2a6
Ensembl Gene ENSMUSG00000036067
Gene Name solute carrier family 2 (facilitated glucose transporter), member 6
Synonyms Glut6, F630103L12Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # IGL02892
Quality Score
Status
Chromosome 2
Chromosomal Location 26911375-26918010 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 26914305 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 271 (Y271H)
Ref Sequence ENSEMBL: ENSMUSP00000049103 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045702] [ENSMUST00000102890] [ENSMUST00000114003] [ENSMUST00000114006] [ENSMUST00000114007] [ENSMUST00000153388]
AlphaFold Q3UDF0
Predicted Effect probably benign
Transcript: ENSMUST00000045702
AA Change: Y271H

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000049103
Gene: ENSMUSG00000036067
AA Change: Y271H

DomainStartEndE-ValueType
Pfam:MFS_1 37 439 4.1e-25 PFAM
Pfam:Sugar_tr 39 488 8.4e-87 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102890
AA Change: Y271H

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000099954
Gene: ENSMUSG00000036067
AA Change: Y271H

DomainStartEndE-ValueType
Pfam:MFS_1 37 382 5.3e-22 PFAM
Pfam:Sugar_tr 39 341 3.4e-61 PFAM
Pfam:Sugar_tr 337 434 1.8e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114003
SMART Domains Protein: ENSMUSP00000109636
Gene: ENSMUSG00000015488

DomainStartEndE-ValueType
Cg6151-P 1 80 6.19e-34 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114006
SMART Domains Protein: ENSMUSP00000109639
Gene: ENSMUSG00000015488

DomainStartEndE-ValueType
low complexity region 5 17 N/A INTRINSIC
Cg6151-P 33 142 2.87e-61 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114007
SMART Domains Protein: ENSMUSP00000109640
Gene: ENSMUSG00000015488

DomainStartEndE-ValueType
low complexity region 5 17 N/A INTRINSIC
Cg6151-P 33 142 2.87e-61 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129835
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135725
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145742
Predicted Effect probably benign
Transcript: ENSMUST00000153388
SMART Domains Protein: ENSMUSP00000122054
Gene: ENSMUSG00000036067

DomainStartEndE-ValueType
transmembrane domain 32 54 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Hexose transport into mammalian cells is catalyzed by a family of membrane proteins, including SLC2A6, that contain 12 transmembrane domains and a number of critical conserved residues.[supplied by OMIM, Jul 2002]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 A T 12: 84,651,771 (GRCm39) L493* probably null Het
Adam32 T A 8: 25,368,727 (GRCm39) probably benign Het
Alpk1 T C 3: 127,473,771 (GRCm39) D744G possibly damaging Het
Arhgef12 A G 9: 42,912,268 (GRCm39) V530A possibly damaging Het
Baz2b A T 2: 59,731,080 (GRCm39) N2095K probably damaging Het
Btnl2 A T 17: 34,581,642 (GRCm39) Q240L possibly damaging Het
Cd96 T C 16: 45,870,160 (GRCm39) probably null Het
Cep350 G A 1: 155,744,552 (GRCm39) T2089I possibly damaging Het
Chd9 T C 8: 91,703,543 (GRCm39) probably benign Het
Cib4 C T 5: 30,702,051 (GRCm39) probably benign Het
Cilp2 T C 8: 70,336,970 (GRCm39) T280A probably benign Het
Coq5 T A 5: 115,432,876 (GRCm39) probably benign Het
Cyth3 A G 5: 143,693,192 (GRCm39) I339V possibly damaging Het
Dcaf7 T C 11: 105,937,518 (GRCm39) V47A possibly damaging Het
Dcdc2c A G 12: 28,585,544 (GRCm39) I151T probably benign Het
Defb7 T A 8: 19,547,678 (GRCm39) F61Y probably benign Het
Diaph3 T A 14: 87,104,066 (GRCm39) K773* probably null Het
Dmxl1 A G 18: 49,992,187 (GRCm39) N311S probably damaging Het
Dnah7b G A 1: 46,158,458 (GRCm39) R347H possibly damaging Het
Egflam C T 15: 7,319,277 (GRCm39) V234I probably benign Het
Emilin3 C T 2: 160,751,069 (GRCm39) V180M possibly damaging Het
Fam76b A T 9: 13,740,117 (GRCm39) E50V probably null Het
Fat3 A T 9: 16,288,858 (GRCm39) Y222N probably damaging Het
Grm7 A G 6: 111,230,981 (GRCm39) N468S probably damaging Het
Gucy1a2 G T 9: 3,634,471 (GRCm39) G172C probably damaging Het
Hmcn1 A C 1: 150,551,725 (GRCm39) probably null Het
Hydin G A 8: 111,325,591 (GRCm39) V4667M possibly damaging Het
Idh2 T C 7: 79,745,418 (GRCm39) S408G probably benign Het
Kcng4 T C 8: 120,359,821 (GRCm39) Q185R probably benign Het
Lamp3 A G 16: 19,494,802 (GRCm39) V301A probably damaging Het
Lrrc23 T C 6: 124,751,399 (GRCm39) N220S probably benign Het
Lrrc41 T A 4: 115,946,032 (GRCm39) M249K possibly damaging Het
Ltbp4 T A 7: 27,010,074 (GRCm39) D1162V probably damaging Het
Mlh1 T C 9: 111,082,037 (GRCm39) I229V probably benign Het
Or1o11 T C 17: 37,756,925 (GRCm39) L160P probably damaging Het
Pgap6 A G 17: 26,338,094 (GRCm39) Y466C probably damaging Het
Plekhg2 T A 7: 28,062,342 (GRCm39) D525V probably damaging Het
Plin4 T C 17: 56,412,108 (GRCm39) K641R probably damaging Het
Plxnb2 A G 15: 89,045,425 (GRCm39) probably null Het
Polr1a T C 6: 71,908,680 (GRCm39) S502P possibly damaging Het
Prss16 A G 13: 22,187,220 (GRCm39) V450A probably benign Het
Prss42 G A 9: 110,628,458 (GRCm39) V201M probably damaging Het
Pus7 A T 5: 23,959,554 (GRCm39) N322K probably damaging Het
Riok1 G T 13: 38,224,041 (GRCm39) probably benign Het
Rmdn3 T A 2: 118,984,561 (GRCm39) T64S probably benign Het
Rmnd5a T A 6: 71,391,798 (GRCm39) M131L probably benign Het
Rtbdn C T 8: 85,681,718 (GRCm39) R170C probably damaging Het
Sesn3 T C 9: 14,226,030 (GRCm39) probably null Het
Slc5a5 T G 8: 71,345,161 (GRCm39) T49P probably damaging Het
Slc7a10 T C 7: 34,894,593 (GRCm39) V84A possibly damaging Het
Slc9a4 A G 1: 40,623,204 (GRCm39) T148A possibly damaging Het
Smg1 T A 7: 117,767,178 (GRCm39) probably benign Het
Snx19 T A 9: 30,339,660 (GRCm39) V266E probably damaging Het
Synm T A 7: 67,384,804 (GRCm39) I511F probably damaging Het
Tango6 T A 8: 107,468,642 (GRCm39) probably benign Het
Tie1 T A 4: 118,343,479 (GRCm39) D128V probably damaging Het
Timeless T C 10: 128,080,120 (GRCm39) L423P probably damaging Het
Tln1 A G 4: 43,555,679 (GRCm39) L145P probably damaging Het
Trp53i13 A T 11: 77,399,121 (GRCm39) D376E probably damaging Het
Ubr4 A T 4: 139,144,642 (GRCm39) I1484F probably damaging Het
Unc13a C T 8: 72,102,554 (GRCm39) V943M probably damaging Het
Usp50 T C 2: 126,611,822 (GRCm39) K301R probably damaging Het
Vmn1r62 G T 7: 5,679,202 (GRCm39) M294I probably benign Het
Vps39 A G 2: 120,153,652 (GRCm39) probably benign Het
Vwa8 T A 14: 79,341,140 (GRCm39) probably benign Het
Wdr27 A T 17: 15,096,438 (GRCm39) W748R possibly damaging Het
Other mutations in Slc2a6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01788:Slc2a6 APN 2 26,914,227 (GRCm39) nonsense probably null
English UTSW 2 26,913,143 (GRCm39) nonsense probably null
R6368:Slc2a6 UTSW 2 26,914,599 (GRCm39) missense possibly damaging 0.69
R6501:Slc2a6 UTSW 2 26,913,143 (GRCm39) nonsense probably null
R6902:Slc2a6 UTSW 2 26,913,172 (GRCm39) missense probably benign 0.01
R6944:Slc2a6 UTSW 2 26,916,076 (GRCm39) missense probably damaging 1.00
R6993:Slc2a6 UTSW 2 26,917,255 (GRCm39) missense probably damaging 1.00
R6999:Slc2a6 UTSW 2 26,916,047 (GRCm39) frame shift probably null
R7597:Slc2a6 UTSW 2 26,917,195 (GRCm39) missense possibly damaging 0.91
R7629:Slc2a6 UTSW 2 26,914,214 (GRCm39) missense probably benign 0.00
R8195:Slc2a6 UTSW 2 26,917,838 (GRCm39) missense probably benign
R8469:Slc2a6 UTSW 2 26,914,347 (GRCm39) missense probably benign 0.05
R9139:Slc2a6 UTSW 2 26,914,334 (GRCm39) missense possibly damaging 0.93
Z1088:Slc2a6 UTSW 2 26,911,999 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18