Incidental Mutation 'R0243:Slc2a8'
ID 215986
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 038481-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.120) question?
Stock # R0243 (G1)
Quality Score 60
Status Validated
Chromosome 2
Chromosomal Location 32863002-32872095 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to T at 32870116 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141879 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028129] [ENSMUST00000153484] [ENSMUST00000193695] [ENSMUST00000194066] [ENSMUST00000195863]
AlphaFold Q9JIF3
Predicted Effect probably benign
Transcript: ENSMUST00000028129
SMART Domains Protein: ENSMUSP00000028129
Gene: ENSMUSG00000026791

DomainStartEndE-ValueType
Pfam:MFS_1 26 425 2e-22 PFAM
Pfam:Sugar_tr 29 474 2.7e-98 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123643
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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.0%
Validation Efficiency 98% (148/151)
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: 139 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik T G 5: 64,055,806 (GRCm39) Y181D probably benign Het
1700029H14Rik A G 8: 13,604,715 (GRCm39) V196A possibly damaging Het
2410004B18Rik A G 3: 145,643,833 (GRCm39) D7G probably damaging Het
Acap1 A G 11: 69,776,252 (GRCm39) V249A probably damaging Het
Acat2 A T 17: 13,162,908 (GRCm39) D313E probably benign Het
Actn4 T C 7: 28,604,823 (GRCm39) T325A probably benign Het
Adamdec1 C T 14: 68,819,407 (GRCm39) probably null Het
Adat2 A G 10: 13,429,037 (GRCm39) T10A probably benign Het
Aff4 T A 11: 53,288,685 (GRCm39) S400R possibly damaging Het
Agbl2 C T 2: 90,621,825 (GRCm39) P104L possibly damaging Het
Alox12 G T 11: 70,133,542 (GRCm39) T594K possibly damaging Het
Als2 C A 1: 59,254,546 (GRCm39) K270N probably benign Het
Ankhd1 T A 18: 36,767,787 (GRCm39) C1235S probably damaging Het
Ankrd24 T A 10: 81,470,778 (GRCm39) I69N probably damaging Het
Aox4 G A 1: 58,252,235 (GRCm39) V37I probably benign Het
Arfgap3 A G 15: 83,214,714 (GRCm39) probably benign Het
Arhgef4 T A 1: 34,846,080 (GRCm39) probably null Het
Asic1 C T 15: 99,596,498 (GRCm39) probably benign Het
Atp8b5 A G 4: 43,366,057 (GRCm39) N776S probably benign Het
Bbs7 A G 3: 36,659,883 (GRCm39) I184T probably benign Het
Bbs9 A T 9: 22,425,297 (GRCm39) H117L probably damaging Het
Bnip2 T C 9: 69,902,787 (GRCm39) W10R probably damaging Het
Brd4 G T 17: 32,443,097 (GRCm39) Q175K probably benign Het
Bysl A T 17: 47,917,821 (GRCm39) V124E possibly damaging Het
Cadm3 A G 1: 173,174,140 (GRCm39) probably benign Het
Cc2d2a T C 5: 43,853,980 (GRCm39) probably benign Het
Ccdc134 G T 15: 82,025,147 (GRCm39) E215D probably damaging Het
Celsr3 G T 9: 108,720,923 (GRCm39) probably benign Het
Cntn5 T A 9: 9,781,780 (GRCm39) D428V probably damaging Het
Cog1 A G 11: 113,547,821 (GRCm39) probably benign Het
Col11a2 G T 17: 34,281,520 (GRCm39) probably benign Het
Cyp4f13 G A 17: 33,143,943 (GRCm39) probably benign Het
Dffb T A 4: 154,049,835 (GRCm39) K343* probably null Het
Dnah9 T A 11: 65,802,678 (GRCm39) I224F possibly damaging Het
Dolk A T 2: 30,176,031 (GRCm39) C5S probably benign Het
Dynlt2b A G 16: 32,245,705 (GRCm39) D118G probably damaging Het
Ebf1 A T 11: 44,759,915 (GRCm39) probably benign Het
Elac1 A G 18: 73,875,434 (GRCm39) L199P probably damaging Het
Elmod1 A C 9: 53,842,831 (GRCm39) probably benign Het
Ep400 A C 5: 110,872,273 (GRCm39) probably benign Het
F10 A T 8: 13,098,196 (GRCm39) N133I probably damaging Het
Fasn A G 11: 120,706,141 (GRCm39) Y1068H probably benign Het
Fbxo24 T C 5: 137,622,819 (GRCm39) E12G probably damaging Het
Fer G T 17: 64,385,941 (GRCm39) L304F probably benign Het
Filip1 A C 9: 79,726,285 (GRCm39) L778R probably damaging Het
Fli1 A T 9: 32,335,277 (GRCm39) I385N probably benign Het
Fpgs A T 2: 32,582,506 (GRCm39) L89* probably null Het
Gab2 T G 7: 96,948,448 (GRCm39) I346R probably damaging Het
Gm10764 G A 10: 87,126,841 (GRCm39) G83R unknown Het
Gpr83 G T 9: 14,776,138 (GRCm39) C153F possibly damaging Het
Gtf3c3 A G 1: 54,442,695 (GRCm39) L783P possibly damaging Het
Gys2 A G 6: 142,418,394 (GRCm39) probably benign Het
Heatr9 C T 11: 83,404,164 (GRCm39) V378I possibly damaging Het
Helz A T 11: 107,528,740 (GRCm39) Y920F possibly damaging Het
Inpp5f A T 7: 128,296,907 (GRCm39) Q459L probably damaging Het
Ints12 T C 3: 132,814,806 (GRCm39) S338P probably benign Het
Kif13a T C 13: 46,944,827 (GRCm39) T925A probably benign Het
Kif1a C T 1: 92,969,815 (GRCm39) V1051I probably damaging Het
Kif7 T A 7: 79,349,308 (GRCm39) H1119L possibly damaging Het
Kmt2d C T 15: 98,748,018 (GRCm39) probably benign Het
Krt90 C T 15: 101,471,110 (GRCm39) G51S possibly damaging Het
Krtap31-2 A T 11: 99,827,572 (GRCm39) I135F possibly damaging Het
Lrp2 T C 2: 69,258,974 (GRCm39) E4572G probably benign Het
Mapk8ip1 T C 2: 92,216,289 (GRCm39) E493G probably damaging Het
Matk T G 10: 81,094,326 (GRCm39) L28V probably benign Het
Mcc T A 18: 44,892,366 (GRCm39) T83S probably benign Het
Mtch1 A T 17: 29,559,080 (GRCm39) M204K possibly damaging Het
Muc4 T G 16: 32,586,120 (GRCm39) C2622G possibly damaging Het
Myo5a G A 9: 75,093,405 (GRCm39) probably null Het
Myoz3 T C 18: 60,712,023 (GRCm39) Y185C probably damaging Het
Nnmt A G 9: 48,503,438 (GRCm39) V196A probably benign Het
Nr2f2 G C 7: 70,009,923 (GRCm39) P52R probably damaging Het
Nup214 T A 2: 31,888,069 (GRCm39) probably benign Het
Or2aj4 T G 16: 19,385,044 (GRCm39) E196D probably damaging Het
Or2y13 T C 11: 49,414,739 (GRCm39) L63P probably damaging Het
Or4c126 T A 2: 89,824,150 (GRCm39) F138I probably benign Het
Pank3 T C 11: 35,672,543 (GRCm39) probably benign Het
Parm1 A T 5: 91,742,153 (GRCm39) N174Y possibly damaging Het
Pcgf2 A T 11: 97,583,244 (GRCm39) probably null Het
Pclo A T 5: 14,825,434 (GRCm39) K4661M unknown Het
Pcsk7 A C 9: 45,827,357 (GRCm39) S375R probably damaging Het
Pdzrn4 G T 15: 92,668,200 (GRCm39) S784I possibly damaging Het
Pex6 T A 17: 47,034,663 (GRCm39) probably null Het
Pi4ka C T 16: 17,115,499 (GRCm39) V1384M probably benign Het
Polr3f T A 2: 144,378,195 (GRCm39) probably benign Het
Ppp2r3d A T 9: 101,089,483 (GRCm39) V280E probably damaging Het
Prdm14 C T 1: 13,192,672 (GRCm39) G356R probably damaging Het
Prepl A G 17: 85,372,466 (GRCm39) probably null Het
Primpol T C 8: 47,052,849 (GRCm39) D154G probably damaging Het
Ptchd4 A C 17: 42,814,307 (GRCm39) H736P probably damaging Het
Rab11fip1 A G 8: 27,642,253 (GRCm39) S849P probably damaging Het
Rap1gap T A 4: 137,446,662 (GRCm39) D405E probably damaging Het
Rbm26 T C 14: 105,369,374 (GRCm39) T686A probably benign Het
Resf1 T C 6: 149,227,739 (GRCm39) Y262H probably damaging Het
Rint1 A G 5: 24,021,930 (GRCm39) probably benign Het
Rnasek G T 11: 70,129,266 (GRCm39) Y62* probably null Het
Rnf17 T G 14: 56,719,541 (GRCm39) N930K possibly damaging Het
Sap130 A G 18: 31,813,734 (GRCm39) probably benign Het
Sectm1b T A 11: 120,946,611 (GRCm39) I95F probably damaging Het
Sema4f A T 6: 82,916,447 (GRCm39) I53N possibly damaging Het
Shld1 T C 2: 132,592,559 (GRCm39) V202A probably benign Het
Siglec1 T C 2: 130,927,396 (GRCm39) T137A probably damaging Het
Six5 A C 7: 18,830,947 (GRCm39) probably null Het
Slc22a30 A T 19: 8,322,721 (GRCm39) I345N probably benign Het
Slc25a27 A T 17: 43,954,518 (GRCm39) M316K probably benign Het
Snx1 G A 9: 66,008,608 (GRCm39) probably benign Het
Spag17 A G 3: 99,992,684 (GRCm39) T1727A probably benign Het
Spata20 T C 11: 94,372,472 (GRCm39) D633G probably benign Het
Spock1 C T 13: 57,583,922 (GRCm39) probably null Het
Sra1 A T 18: 36,808,759 (GRCm39) Y291* probably null Het
Sspo C A 6: 48,470,120 (GRCm39) P4520T probably damaging Het
Stat4 A G 1: 52,051,016 (GRCm39) N25S probably benign Het
Tbx18 A T 9: 87,597,569 (GRCm39) probably benign Het
Tep1 T A 14: 51,084,444 (GRCm39) I187F probably damaging Het
Tfap2b A T 1: 19,304,347 (GRCm39) I368F probably damaging Het
Tmtc1 A T 6: 148,148,335 (GRCm39) L711Q probably damaging Het
Tmx3 T A 18: 90,556,613 (GRCm39) probably benign Het
Tnc G T 4: 63,888,657 (GRCm39) T1803K probably damaging Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Tpgs1 C T 10: 79,511,700 (GRCm39) P281S probably benign Het
Trim45 A G 3: 100,837,160 (GRCm39) R499G probably benign Het
Tulp3 A T 6: 128,302,921 (GRCm39) Y299* probably null Het
Ube4a A T 9: 44,857,476 (GRCm39) probably benign Het
Ubr3 T G 2: 69,781,749 (GRCm39) S642R probably damaging Het
Vcpip1 A T 1: 9,817,431 (GRCm39) Y317* probably null Het
Vmn1r115 G A 7: 20,578,327 (GRCm39) T195I probably benign Het
Vmn1r226 G A 17: 20,907,839 (GRCm39) V24I probably benign Het
Wdr41 C T 13: 95,153,914 (GRCm39) A321V probably damaging Het
Wfdc5 T C 2: 164,020,755 (GRCm39) N44D probably benign Het
Wnt7b C A 15: 85,443,103 (GRCm39) probably null Het
Zfp108 T C 7: 23,961,208 (GRCm39) S600P possibly damaging Het
Zfp267 A G 3: 36,219,303 (GRCm39) H442R possibly damaging Het
Zfp385b A G 2: 77,246,072 (GRCm39) probably null Het
Zfp395 T C 14: 65,623,929 (GRCm39) S133P probably benign Het
Zfp407 T A 18: 84,576,836 (GRCm39) M1426L probably damaging Het
Zfp641 T G 15: 98,187,008 (GRCm39) N191T possibly damaging Het
Zfp687 T C 3: 94,918,864 (GRCm39) S303G probably damaging Het
Zfp759 T A 13: 67,286,877 (GRCm39) F143I possibly damaging Het
Zgrf1 G C 3: 127,409,095 (GRCm39) E1690Q probably damaging 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
R0530:Slc2a8 UTSW 2 32,863,696 (GRCm39) missense probably benign 0.32
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'- AGTTTCCAGAGTGACCGCATAGCC -3'
(R):5'- AGGAAAGCTCTGCACTCCTCTCTC -3'

Sequencing Primer
(F):5'- GAGTGACCGCATAGCCTCTAAC -3'
(R):5'- tgggaggcagaggcagg -3'
Posted On 2014-07-16