Incidental Mutation 'R7834:Slc2a8'
ID 605829
Institutional Source Beutler Lab
Gene Symbol Slc2a8
Ensembl Gene ENSMUSG00000026791
Gene Name solute carrier family 2, (facilitated glucose transporter), member 8
Synonyms D2Ertd44e, GlutX1, GLUT8
MMRRC Submission 045888-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.152) question?
Stock # R7834 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 32972990-32982083 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 32976907 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 227 (G227D)
Ref Sequence ENSEMBL: ENSMUSP00000028129 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028129] [ENSMUST00000153484] [ENSMUST00000193695] [ENSMUST00000194066] [ENSMUST00000195863]
AlphaFold Q9JIF3
Predicted Effect probably damaging
Transcript: ENSMUST00000028129
AA Change: G227D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028129
Gene: ENSMUSG00000026791
AA Change: G227D

Pfam:MFS_1 26 425 2e-22 PFAM
Pfam:Sugar_tr 29 474 2.7e-98 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000153484
AA Change: G227D

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000141959
Gene: ENSMUSG00000026791
AA Change: G227D

Pfam:MFS_1 26 296 1.4e-18 PFAM
Pfam:Sugar_tr 29 295 1.5e-58 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000193695
AA Change: G227D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142100
Gene: ENSMUSG00000026791
AA Change: G227D

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

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

Pfam:Sugar_tr 1 60 8.7e-17 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (75/75)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 A T 2: 69,284,724 (GRCm38) I626N probably damaging Het
Abcc12 C T 8: 86,558,230 (GRCm38) C252Y probably damaging Het
Abcc12 T A 8: 86,531,550 (GRCm38) Y779F possibly damaging Het
Adam22 A T 5: 8,130,535 (GRCm38) C521S probably damaging Het
Adcy5 C A 16: 35,157,200 (GRCm38) H368N probably benign Het
Akap13 T A 7: 75,742,642 (GRCm38) I2411N possibly damaging Het
Ankrd12 A G 17: 65,987,352 (GRCm38) F339S probably damaging Het
Bmp1 T A 14: 70,508,565 (GRCm38) R153W probably damaging Het
Bmp6 T C 13: 38,469,667 (GRCm38) F237L probably damaging Het
Cacna1c A G 6: 118,610,581 (GRCm38) S1628P Het
Ccdc141 T C 2: 77,059,545 (GRCm38) R468G possibly damaging Het
Cdc40 A T 10: 40,882,949 (GRCm38) S43T probably benign Het
Celf4 A G 18: 25,753,485 (GRCm38) M48T probably benign Het
Clec4g A T 8: 3,716,500 (GRCm38) M267K probably damaging Het
Col6a1 G T 10: 76,709,928 (GRCm38) S903R unknown Het
Creg2 A G 1: 39,650,634 (GRCm38) F103L probably damaging Het
Cul9 T C 17: 46,525,704 (GRCm38) probably null Het
Dchs1 G A 7: 105,765,567 (GRCm38) A756V probably benign Het
Diaph1 G A 18: 37,853,709 (GRCm38) probably benign Het
Dmxl1 G A 18: 49,920,977 (GRCm38) G2550D probably damaging Het
Dst G T 1: 34,194,105 (GRCm38) R3396I probably benign Het
Dync2h1 T C 9: 7,118,953 (GRCm38) T2171A probably benign Het
Fgd2 C T 17: 29,364,951 (GRCm38) T113M probably damaging Het
Galnt6 G T 15: 100,714,103 (GRCm38) S219R probably damaging Het
Gbp6 T A 5: 105,273,265 (GRCm38) E558V probably benign Het
Gnas A T 2: 174,298,990 (GRCm38) K377* probably null Het
Hars2 T C 18: 36,789,581 (GRCm38) I389T probably damaging Het
Hsp90ab1 T C 17: 45,571,165 (GRCm38) I123V possibly damaging Het
Igkv6-14 A T 6: 70,435,008 (GRCm38) N97K possibly damaging Het
Isg20 T C 7: 78,920,119 (GRCm38) L168P probably damaging Het
Kcna1 C T 6: 126,642,740 (GRCm38) D206N probably benign Het
Kcnn3 A G 3: 89,521,354 (GRCm38) I296V probably damaging Het
Kif18a G A 2: 109,296,774 (GRCm38) R351H probably damaging Het
Klra5 A T 6: 129,899,290 (GRCm38) probably null Het
Krt9 T C 11: 100,192,666 (GRCm38) T180A probably benign Het
Lhx8 T C 3: 154,311,537 (GRCm38) S323G probably null Het
Lpcat2 T A 8: 92,918,101 (GRCm38) L506H possibly damaging Het
Map2 A G 1: 66,416,488 (GRCm38) E1447G probably damaging Het
Mapk8ip2 A T 15: 89,461,373 (GRCm38) I779F probably damaging Het
Mcmdc2 G A 1: 9,912,174 (GRCm38) probably null Het
Mrps15 G A 4: 126,055,389 (GRCm38) E217K probably damaging Het
Muc5b G A 7: 141,859,070 (GRCm38) G1918R unknown Het
Mug2 T C 6: 122,036,282 (GRCm38) I336T probably benign Het
Myh10 T C 11: 68,785,826 (GRCm38) V878A probably damaging Het
Nomo1 T C 7: 46,056,738 (GRCm38) probably null Het
Ogdhl T A 14: 32,340,709 (GRCm38) I584N probably benign Het
Pdzrn3 G A 6: 101,151,195 (GRCm38) R837C probably damaging Het
Pkhd1 A G 1: 20,312,049 (GRCm38) M2626T probably benign Het
Plat G T 8: 22,772,232 (GRCm38) G91W probably damaging Het
Pml C A 9: 58,234,685 (GRCm38) R288L probably benign Het
Pnliprp2 T C 19: 58,774,159 (GRCm38) S399P probably benign Het
Prelp T C 1: 133,914,772 (GRCm38) T212A probably damaging Het
Ptpn13 T A 5: 103,462,148 (GRCm38) S4T probably damaging Het
Ptprb A C 10: 116,339,424 (GRCm38) E821A probably benign Het
Rabgap1 T C 2: 37,469,407 (GRCm38) probably benign Het
Reln C T 5: 22,039,635 (GRCm38) V782M possibly damaging Het
Rpl3l T C 17: 24,733,463 (GRCm38) V52A possibly damaging Het
Rrp1b T C 17: 32,051,724 (GRCm38) V219A probably benign Het
Rtn1 T A 12: 72,304,032 (GRCm38) I468F probably damaging Het
Safb T A 17: 56,593,881 (GRCm38) M129K unknown Het
Sall1 C A 8: 89,033,374 (GRCm38) S34I probably benign Het
Slco4a1 G T 2: 180,465,677 (GRCm38) V295L probably benign Het
Slfn5 A T 11: 82,960,452 (GRCm38) Q525L possibly damaging Het
Speg C T 1: 75,384,927 (GRCm38) T195M probably damaging Het
Syne2 A T 12: 75,967,247 (GRCm38) T3071S probably benign Het
Syngr1 G T 15: 80,111,617 (GRCm38) W119L probably damaging Het
Tenm2 A G 11: 36,024,854 (GRCm38) L1951P probably damaging Het
Ulk4 C T 9: 121,263,668 (GRCm38) E168K possibly damaging Het
Ush2a G A 1: 188,733,440 (GRCm38) W2735* probably null Het
Usp17lb T A 7: 104,841,511 (GRCm38) T70S probably damaging Het
Vmn2r6 T G 3: 64,538,022 (GRCm38) N761H probably damaging Het
Vps13d A T 4: 145,108,573 (GRCm38) I2741K Het
Wdr38 A T 2: 39,000,184 (GRCm38) Q110L possibly damaging Het
Zfp872 A G 9: 22,200,110 (GRCm38) K295R probably damaging Het
Other mutations in Slc2a8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00420:Slc2a8 APN 2 32,973,624 (GRCm38) missense probably damaging 0.99
IGL01341:Slc2a8 APN 2 32,975,991 (GRCm38) missense probably damaging 1.00
R0063:Slc2a8 UTSW 2 32,979,999 (GRCm38) splice site probably null
R0063:Slc2a8 UTSW 2 32,979,999 (GRCm38) splice site probably null
R0243:Slc2a8 UTSW 2 32,980,104 (GRCm38) intron probably benign
R0530:Slc2a8 UTSW 2 32,973,684 (GRCm38) missense probably benign 0.32
R0972:Slc2a8 UTSW 2 32,975,367 (GRCm38) missense probably benign
R1919:Slc2a8 UTSW 2 32,980,079 (GRCm38) missense probably damaging 1.00
R2015:Slc2a8 UTSW 2 32,981,380 (GRCm38) missense probably benign 0.01
R2893:Slc2a8 UTSW 2 32,974,954 (GRCm38) missense probably damaging 1.00
R5144:Slc2a8 UTSW 2 32,981,773 (GRCm38) missense probably damaging 0.96
R5685:Slc2a8 UTSW 2 32,981,789 (GRCm38) missense possibly damaging 0.87
R5744:Slc2a8 UTSW 2 32,976,028 (GRCm38) missense probably benign 0.00
R6717:Slc2a8 UTSW 2 32,976,177 (GRCm38) missense probably damaging 1.00
R7828:Slc2a8 UTSW 2 32,980,068 (GRCm38) nonsense probably null
R8397:Slc2a8 UTSW 2 32,975,998 (GRCm38) missense probably benign
R9091:Slc2a8 UTSW 2 32,974,852 (GRCm38) missense probably damaging 1.00
R9270:Slc2a8 UTSW 2 32,974,852 (GRCm38) missense probably damaging 1.00
X0061:Slc2a8 UTSW 2 32,975,448 (GRCm38) missense probably benign 0.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-12-20