Incidental Mutation 'R6501:Slc2a6'
ID 519712
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 044633-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R6501 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 26911375-26918010 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 26913143 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 383 (Y383*)
Ref Sequence ENSEMBL: ENSMUSP00000049103 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045702] [ENSMUST00000102890] [ENSMUST00000114003] [ENSMUST00000114006] [ENSMUST00000114007] [ENSMUST00000153388]
AlphaFold Q3UDF0
Predicted Effect probably null
Transcript: ENSMUST00000045702
AA Change: Y383*
SMART Domains Protein: ENSMUSP00000049103
Gene: ENSMUSG00000036067
AA Change: Y383*

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
SMART Domains Protein: ENSMUSP00000099954
Gene: ENSMUSG00000036067

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: ENSMUST00000133126
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135725
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.1%
Validation Efficiency 100% (48/48)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd8 A T 8: 71,914,165 (GRCm39) C154* probably null Het
Ada A G 2: 163,570,108 (GRCm39) probably null Het
Birc6 G A 17: 74,886,276 (GRCm39) V535I probably damaging Het
Bptf T C 11: 106,968,509 (GRCm39) N1058S probably null Het
Cdadc1 C T 14: 59,823,898 (GRCm39) C198Y probably benign Het
Chrna7 G A 7: 62,755,863 (GRCm39) R228C probably damaging Het
Cts6 T C 13: 61,344,149 (GRCm39) N301S probably damaging Het
Cts8 T A 13: 61,398,756 (GRCm39) D250V probably damaging Het
Cyp26a1 G T 19: 37,687,518 (GRCm39) R235L possibly damaging Het
Disc1 A T 8: 125,944,844 (GRCm39) M598L probably benign Het
Ear6 T A 14: 52,091,681 (GRCm39) V76D possibly damaging Het
Grifin A G 5: 140,549,036 (GRCm39) *145R probably null Het
Htr2b T G 1: 86,038,363 (GRCm39) E11A probably damaging Het
Krtap4-9 T A 11: 99,676,255 (GRCm39) probably benign Het
Larp4b A C 13: 9,218,829 (GRCm39) H522P probably damaging Het
Macf1 A T 4: 123,363,425 (GRCm39) probably null Het
Mdfic T C 6: 15,770,516 (GRCm39) L174P possibly damaging Het
Mmp17 A G 5: 129,683,469 (GRCm39) E535G probably benign Het
Nfxl1 A T 5: 72,685,852 (GRCm39) probably null Het
Nynrin A T 14: 56,100,989 (GRCm39) T260S probably benign Het
Or4k44 C T 2: 111,368,124 (GRCm39) G170D probably damaging Het
Or7e168 A T 9: 19,720,271 (GRCm39) Y219F possibly damaging Het
Or8b1c A T 9: 38,384,585 (GRCm39) I181F possibly damaging Het
Pbx1 G T 1: 168,037,103 (GRCm39) D109E probably damaging Het
Pde4d A T 13: 109,253,476 (GRCm39) H101L probably benign Het
Pdlim3 T C 8: 46,361,639 (GRCm39) I155T possibly damaging Het
Plekha5 T A 6: 140,471,655 (GRCm39) Y26* probably null Het
Prpf6 T A 2: 181,263,713 (GRCm39) L191* probably null Het
Rabl6 A G 2: 25,492,459 (GRCm39) V80A possibly damaging Het
Rp1 T C 1: 4,381,503 (GRCm39) probably benign Het
Sec14l1 A G 11: 117,047,676 (GRCm39) S698G probably damaging Het
Skic2 A G 17: 35,063,412 (GRCm39) S622P possibly damaging Het
Slc19a1 G A 10: 76,885,440 (GRCm39) G447S probably benign Het
Slc9a9 C A 9: 94,818,424 (GRCm39) Q273K probably benign Het
Spint2 A G 7: 28,963,131 (GRCm39) Y56H probably damaging Het
Sspo T A 6: 48,472,146 (GRCm39) M123K possibly damaging Het
Syne2 A G 12: 76,074,621 (GRCm39) probably null Het
Trdn A C 10: 33,342,450 (GRCm39) K619N probably benign Het
Ttll13 A G 7: 79,899,924 (GRCm39) T119A possibly damaging Het
Ttn T C 2: 76,615,990 (GRCm39) Y8324C probably damaging Het
Ttn T C 2: 76,728,602 (GRCm39) probably benign Het
Vav2 A G 2: 27,186,231 (GRCm39) L208P probably damaging Het
Vmn1r179 A G 7: 23,628,342 (GRCm39) I178V probably benign Het
Vmn1r210 T C 13: 23,011,705 (GRCm39) M194V possibly damaging Het
Vmn2r103 A T 17: 20,032,166 (GRCm39) T647S probably benign Het
Wdr49 T A 3: 75,246,765 (GRCm39) H289L probably benign Het
Wnk2 T G 13: 49,300,159 (GRCm39) K184Q probably damaging Het
Zfp758 A G 17: 22,590,978 (GRCm39) 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
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
Predicted Primers PCR Primer
(F):5'- TGGCTAGAGGGTCCTATTGTCC -3'
(R):5'- AACTCAATGGTGTGGCAGG -3'

Sequencing Primer
(F):5'- AGAGGGTCCTATTGTCCAACTC -3'
(R):5'- TAGTGGGGCTCGCAATAGACC -3'
Posted On 2018-06-06