Incidental Mutation 'R8195:Slc2a6'
ID 635380
Institutional Source Beutler Lab
Gene Symbol Slc2a6
Ensembl Gene ENSMUSG00000036067
Gene Name solute carrier family 2 (facilitated glucose transporter), member 6
Synonyms Glut6, F630103L12Rik
MMRRC Submission 067618-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R8195 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 26911375-26918010 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 26917838 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Alanine at position 27 (E27A)
Ref Sequence ENSEMBL: ENSMUSP00000049103 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045702] [ENSMUST00000102890] [ENSMUST00000153388]
AlphaFold Q3UDF0
Predicted Effect probably benign
Transcript: ENSMUST00000045702
AA Change: E27A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000049103
Gene: ENSMUSG00000036067
AA Change: E27A

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: E27A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000099954
Gene: ENSMUSG00000036067
AA Change: E27A

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: ENSMUST00000153388
AA Change: E27A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000122054
Gene: ENSMUSG00000036067
AA Change: E27A

DomainStartEndE-ValueType
transmembrane domain 32 54 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 100% (53/53)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 G A 11: 9,224,735 (GRCm39) G483R probably benign Het
Abca9 T C 11: 110,029,155 (GRCm39) D801G probably benign Het
Aldob T C 4: 49,538,822 (GRCm39) N232S probably damaging Het
Ankhd1 T C 18: 36,787,230 (GRCm39) V322A Het
Arfgef1 T C 1: 10,243,478 (GRCm39) K1024E probably damaging Het
Arhgef40 T A 14: 52,226,226 (GRCm39) V90E probably damaging Het
Cblc A T 7: 19,519,262 (GRCm39) S399R possibly damaging Het
Ccdc17 T A 4: 116,456,211 (GRCm39) I368K possibly damaging Het
Ccdc17 T A 4: 116,456,213 (GRCm39) W369R probably damaging Het
Cd276 G A 9: 58,444,755 (GRCm39) T72I probably damaging Het
Cdk14 C T 5: 5,277,159 (GRCm39) probably null Het
Cfap61 C T 2: 145,789,095 (GRCm39) S33L probably benign Het
Cmtm2a A G 8: 105,019,670 (GRCm39) F7L probably benign Het
Eif2ak4 T C 2: 118,280,819 (GRCm39) I1062T possibly damaging Het
Fcnb C T 2: 27,968,330 (GRCm39) S209N possibly damaging Het
Fxr1 A T 3: 34,101,878 (GRCm39) E204V probably damaging Het
Fzd6 T A 15: 38,894,959 (GRCm39) L375Q probably damaging Het
Ggta1 T A 2: 35,312,279 (GRCm39) E33V probably damaging Het
Gnb1l T A 16: 18,362,965 (GRCm39) I119N probably benign Het
Gpsm1 A G 2: 26,214,929 (GRCm39) probably null Het
Hecw1 A G 13: 14,480,692 (GRCm39) I885T probably damaging Het
Itgb8 T C 12: 119,131,905 (GRCm39) D580G probably damaging Het
Kbtbd12 T A 6: 88,594,913 (GRCm39) T306S possibly damaging Het
Kctd1 C T 18: 15,196,300 (GRCm39) E108K unknown Het
Lrrc36 A G 8: 106,178,717 (GRCm39) D304G possibly damaging Het
Lrrn2 A G 1: 132,865,082 (GRCm39) E49G probably damaging Het
Lysmd2 C A 9: 75,533,310 (GRCm39) Y88* probably null Het
Lzts3 A G 2: 130,477,105 (GRCm39) S448P probably benign Het
Meioc T A 11: 102,565,893 (GRCm39) L447* probably null Het
Mybpc1 A G 10: 88,394,553 (GRCm39) I244T possibly damaging Het
Necab3 G A 2: 154,389,363 (GRCm39) A160V probably benign Het
Nek8 G T 11: 78,061,587 (GRCm39) P314Q possibly damaging Het
Nlrp5 A G 7: 23,112,762 (GRCm39) T140A probably benign Het
Or10p21 T C 10: 128,847,444 (GRCm39) C97R probably damaging Het
Or52ac1 A T 7: 104,246,133 (GRCm39) F85Y probably damaging Het
Or7e169 A T 9: 19,757,780 (GRCm39) I45N probably damaging Het
Or8b54 G A 9: 38,686,577 (GRCm39) V9M noncoding transcript Het
Pgm3 G A 9: 86,452,374 (GRCm39) R29W probably damaging Het
Ppp2r3d A G 9: 101,090,231 (GRCm39) C31R probably damaging Het
Prom1 C T 5: 44,194,770 (GRCm39) S334N possibly damaging Het
Rai14 C T 15: 10,575,302 (GRCm39) S581N probably benign Het
Rbm46 C T 3: 82,772,775 (GRCm39) R119Q probably benign Het
Rgs16 T C 1: 153,616,689 (GRCm39) F42S probably benign Het
Slc38a1 G A 15: 96,490,447 (GRCm39) S110L probably benign Het
Sox30 C T 11: 45,882,592 (GRCm39) R541C probably benign Het
Sptbn4 C A 7: 27,108,314 (GRCm39) E703* probably null Het
Tjp1 A T 7: 64,993,470 (GRCm39) F34L probably damaging Het
Trim65 T C 11: 116,017,037 (GRCm39) Q475R probably benign Het
Ttc38 A T 15: 85,728,716 (GRCm39) R223* probably null Het
Tulp1 T C 17: 28,583,300 (GRCm39) Q80R probably benign Het
Utp23 T C 15: 51,745,598 (GRCm39) F139L possibly damaging Het
Vmn1r121 A T 7: 20,832,228 (GRCm39) F71I probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Zdbf2 T C 1: 63,343,225 (GRCm39) S535P possibly damaging Het
Zfp788 T G 7: 41,298,801 (GRCm39) M479R probably benign Het
Other mutations in Slc2a6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01788:Slc2a6 APN 2 26,914,227 (GRCm39) nonsense probably null
IGL02892:Slc2a6 APN 2 26,914,305 (GRCm39) missense probably benign 0.08
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
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
Predicted Primers PCR Primer
(F):5'- CACCCAGTATTCCTTTGGAGGC -3'
(R):5'- TGTCTCATTGGACAGCACG -3'

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