Incidental Mutation 'R0530:Slc2a8'
ID 49088
Institutional Source Beutler Lab
Gene Symbol Slc2a8
Ensembl Gene ENSMUSG00000026791
Gene Name solute carrier family 2, (facilitated glucose transporter), member 8
Synonyms GLUT8, GlutX1, D2Ertd44e
MMRRC Submission 038722-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.120) question?
Stock # R0530 (G1)
Quality Score 221
Status Validated
Chromosome 2
Chromosomal Location 32863002-32872095 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 32863696 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 449 (A449T)
Ref Sequence ENSEMBL: ENSMUSP00000028129 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028129] [ENSMUST00000153484] [ENSMUST00000193695] [ENSMUST00000194066] [ENSMUST00000195863]
AlphaFold Q9JIF3
Predicted Effect probably benign
Transcript: ENSMUST00000028129
AA Change: A449T

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000028129
Gene: ENSMUSG00000026791
AA Change: A449T

DomainStartEndE-ValueType
Pfam:MFS_1 26 425 2e-22 PFAM
Pfam:Sugar_tr 29 474 2.7e-98 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130769
Predicted Effect probably benign
Transcript: ENSMUST00000153484
SMART Domains Protein: ENSMUSP00000141959
Gene: ENSMUSG00000026791

DomainStartEndE-ValueType
Pfam:MFS_1 26 296 1.4e-18 PFAM
Pfam:Sugar_tr 29 295 1.5e-58 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191777
Predicted Effect probably benign
Transcript: ENSMUST00000193695
SMART Domains Protein: ENSMUSP00000142100
Gene: ENSMUSG00000026791

DomainStartEndE-ValueType
Pfam:MFS_1 26 290 1.2e-18 PFAM
Pfam:Sugar_tr 29 290 1.4e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000194066
SMART Domains Protein: ENSMUSP00000141969
Gene: ENSMUSG00000026791

DomainStartEndE-ValueType
low complexity region 34 46 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000195863
SMART Domains Protein: ENSMUSP00000141879
Gene: ENSMUSG00000026791

DomainStartEndE-ValueType
Pfam:Sugar_tr 1 60 8.7e-17 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.7%
  • 10x: 96.6%
  • 20x: 93.1%
Validation Efficiency 96% (51/53)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the solute carrier 2A family, which includes intracellular glucose transporters. Based on sequence comparison, the glucose transporters are grouped into three classes and this gene is a member of class II. The encoded protein, like other members of the family, contains several conserved residues and motifs and 12 transmembrane domains with both amino and carboxyl ends being on the cytosolic side of the membrane. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012]
PHENOTYPE: Homozygotes for one null allele show reduced spermatozoan ATP levels, mitochondrial membrane potential and sperm motility, and a slight deviation from the expected Mendelian frequency. Homozygotes for another null allele show increased hippocampus cell proliferation and cardiac P-wave duration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 A G 5: 105,083,920 (GRCm39) W617R probably damaging Het
Adam34l A T 8: 44,079,568 (GRCm39) C219S probably benign Het
Cep83 A T 10: 94,555,450 (GRCm39) probably benign Het
Ces1e G A 8: 93,946,149 (GRCm39) probably benign Het
Ckap2 A G 8: 22,665,988 (GRCm39) probably benign Het
Clip1 C A 5: 123,778,594 (GRCm39) R443L probably damaging Het
Clmp A G 9: 40,672,302 (GRCm39) D44G probably benign Het
Cntnap2 G A 6: 46,506,839 (GRCm39) Q304* probably null Het
Cst7 A T 2: 150,412,435 (GRCm39) probably benign Het
Dclk3 A T 9: 111,311,789 (GRCm39) Y677F probably damaging Het
Dlat G T 9: 50,548,869 (GRCm39) N562K probably damaging Het
Elmod1 A T 9: 53,833,260 (GRCm39) Y182N probably damaging Het
Fzd10 T C 5: 128,679,077 (GRCm39) F266L probably damaging Het
Gm8258 A G 5: 104,923,952 (GRCm39) noncoding transcript Het
Gm9742 T A 13: 8,080,041 (GRCm39) noncoding transcript Het
Hdlbp T C 1: 93,358,039 (GRCm39) probably benign Het
Itga8 A G 2: 12,196,627 (GRCm39) S597P probably damaging Het
Kndc1 A T 7: 139,481,153 (GRCm39) I80F probably damaging Het
Ktn1 A G 14: 47,970,700 (GRCm39) N1192S probably benign Het
Ldha G A 7: 46,503,417 (GRCm39) V270M probably damaging Het
Lyst T C 13: 13,931,891 (GRCm39) probably benign Het
Map3k9 A T 12: 81,769,256 (GRCm39) F954I probably benign Het
Mroh2b A G 15: 4,963,877 (GRCm39) N823S probably damaging Het
Mycbp2 A T 14: 103,419,895 (GRCm39) N2480K probably damaging Het
Nat1 A G 8: 67,943,977 (GRCm39) K121E probably benign Het
Neurl1b T A 17: 26,660,519 (GRCm39) probably null Het
Nnt C A 13: 119,531,257 (GRCm39) L163F probably damaging Het
Or10v5 A G 19: 11,805,556 (GRCm39) V278A probably benign Het
Otog A G 7: 45,947,668 (GRCm39) T2274A probably damaging Het
Pde4b G A 4: 102,459,848 (GRCm39) R561Q probably damaging Het
Pitpnm2 A G 5: 124,269,264 (GRCm39) F453L probably damaging Het
Pms1 T C 1: 53,235,972 (GRCm39) probably null Het
Pot1a A G 6: 25,771,540 (GRCm39) V227A possibly damaging Het
Prdx6b A G 2: 80,123,659 (GRCm39) N156S probably damaging Het
Ptpn9 A G 9: 56,968,417 (GRCm39) S586G probably benign Het
Serpina6 A T 12: 103,618,053 (GRCm39) N253K probably damaging Het
Slc12a2 T A 18: 58,052,608 (GRCm39) V809D possibly damaging Het
Slc6a6 A G 6: 91,701,939 (GRCm39) I116V probably null Het
Synj2 T A 17: 6,058,380 (GRCm39) S58R possibly damaging Het
Tafa3 T C 3: 104,679,487 (GRCm39) probably benign Het
Tktl2 T C 8: 66,965,831 (GRCm39) V463A probably damaging Het
Uchl5 T C 1: 143,670,082 (GRCm39) V105A possibly damaging Het
Usp9y T C Y: 1,333,600 (GRCm39) probably benign Het
Vmn1r200 T C 13: 22,579,667 (GRCm39) S148P probably damaging Het
Vmn2r50 A T 7: 9,781,644 (GRCm39) M367K possibly damaging Het
Vps13a T C 19: 16,632,570 (GRCm39) probably benign Het
Wdr26 A T 1: 181,013,635 (GRCm39) probably null Het
Wdr87-ps A G 7: 29,229,545 (GRCm39) noncoding transcript Het
Ythdc2 T A 18: 44,983,465 (GRCm39) M544K probably damaging Het
Zpld2 A G 4: 133,930,221 (GRCm39) I28T probably benign Het
Other mutations in Slc2a8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00420:Slc2a8 APN 2 32,863,636 (GRCm39) missense probably damaging 0.99
IGL01341:Slc2a8 APN 2 32,866,003 (GRCm39) missense probably damaging 1.00
R0063:Slc2a8 UTSW 2 32,870,011 (GRCm39) splice site probably null
R0063:Slc2a8 UTSW 2 32,870,011 (GRCm39) splice site probably null
R0243:Slc2a8 UTSW 2 32,870,116 (GRCm39) intron probably benign
R0972:Slc2a8 UTSW 2 32,865,379 (GRCm39) missense probably benign
R1919:Slc2a8 UTSW 2 32,870,091 (GRCm39) missense probably damaging 1.00
R2015:Slc2a8 UTSW 2 32,871,392 (GRCm39) missense probably benign 0.01
R2893:Slc2a8 UTSW 2 32,864,966 (GRCm39) missense probably damaging 1.00
R5144:Slc2a8 UTSW 2 32,871,785 (GRCm39) missense probably damaging 0.96
R5685:Slc2a8 UTSW 2 32,871,801 (GRCm39) missense possibly damaging 0.87
R5744:Slc2a8 UTSW 2 32,866,040 (GRCm39) missense probably benign 0.00
R6717:Slc2a8 UTSW 2 32,866,189 (GRCm39) missense probably damaging 1.00
R7828:Slc2a8 UTSW 2 32,870,080 (GRCm39) nonsense probably null
R7834:Slc2a8 UTSW 2 32,866,919 (GRCm39) missense probably damaging 1.00
R8397:Slc2a8 UTSW 2 32,866,010 (GRCm39) missense probably benign
R9091:Slc2a8 UTSW 2 32,864,864 (GRCm39) missense probably damaging 1.00
R9270:Slc2a8 UTSW 2 32,864,864 (GRCm39) missense probably damaging 1.00
X0061:Slc2a8 UTSW 2 32,865,460 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GCTTAGTTACAGGCCACTCCACTC -3'
(R):5'- ACTCATAGCATGGGACACTGGAAGG -3'

Sequencing Primer
(F):5'- TCCTTCTGAAACCCAAAGGCAG -3'
(R):5'- CTTGACACTGCTGATCTCAGGG -3'
Posted On 2013-06-12