Incidental Mutation 'R7828:Slc2a8'
ID 602417
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 045882-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.120) question?
Stock # R7828 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 32863002-32872095 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 32870080 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 154 (R154*)
Ref Sequence ENSEMBL: ENSMUSP00000142100 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028129] [ENSMUST00000153484] [ENSMUST00000193695] [ENSMUST00000194066] [ENSMUST00000195863]
AlphaFold Q9JIF3
Predicted Effect probably null
Transcript: ENSMUST00000028129
AA Change: R154*
SMART Domains Protein: ENSMUSP00000028129
Gene: ENSMUSG00000026791
AA Change: R154*

DomainStartEndE-ValueType
Pfam:MFS_1 26 425 2e-22 PFAM
Pfam:Sugar_tr 29 474 2.7e-98 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000153484
AA Change: R154*
SMART Domains Protein: ENSMUSP00000141959
Gene: ENSMUSG00000026791
AA Change: R154*

DomainStartEndE-ValueType
Pfam:MFS_1 26 296 1.4e-18 PFAM
Pfam:Sugar_tr 29 295 1.5e-58 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000193695
AA Change: R154*
SMART Domains Protein: ENSMUSP00000142100
Gene: ENSMUSG00000026791
AA Change: R154*

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (64/64)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 T C 8: 87,254,904 (GRCm39) T869A probably benign Het
Aqr T A 2: 113,979,497 (GRCm39) I313F probably damaging Het
Arid1b C A 17: 5,147,943 (GRCm39) P615Q probably damaging Het
Asb16 C A 11: 102,168,753 (GRCm39) Q410K probably benign Het
Ash2l T C 8: 26,313,214 (GRCm39) E335G possibly damaging Het
AU041133 C T 10: 81,987,054 (GRCm39) H236Y probably damaging Het
Bhmt T A 13: 93,754,156 (GRCm39) Y351F possibly damaging Het
Birc6 T C 17: 74,886,501 (GRCm39) S610P probably damaging Het
Cab39l T C 14: 59,737,159 (GRCm39) probably null Het
Cdc7 A T 5: 107,120,816 (GRCm39) Q146L possibly damaging Het
Cdk18 T C 1: 132,044,642 (GRCm39) H328R possibly damaging Het
Cdsn T C 17: 35,865,878 (GRCm39) S136P unknown Het
Ces3b T A 8: 105,813,228 (GRCm39) L203Q probably damaging Het
Cgn A G 3: 94,676,489 (GRCm39) V840A probably damaging Het
Ctse T C 1: 131,590,491 (GRCm39) L71P probably damaging Het
Ears2 G T 7: 121,647,563 (GRCm39) S240R probably benign Het
Edem3 A G 1: 151,687,386 (GRCm39) I756V possibly damaging Het
Epas1 T C 17: 87,135,127 (GRCm39) Y587H probably benign Het
Fcamr G T 1: 130,739,443 (GRCm39) A248S probably damaging Het
Gm14496 G A 2: 181,633,171 (GRCm39) W51* probably null Het
Hfm1 A T 5: 107,029,657 (GRCm39) probably null Het
Hhip T C 8: 80,724,837 (GRCm39) I312V probably benign Het
Hmcn2 C A 2: 31,295,887 (GRCm39) N2658K possibly damaging Het
Iars1 T A 13: 49,878,748 (GRCm39) M948K probably benign Het
Il27ra A G 8: 84,758,187 (GRCm39) L521S probably damaging Het
Itpr1 A G 6: 108,459,892 (GRCm39) D2062G probably damaging Het
Jag2 G T 12: 112,876,800 (GRCm39) R784S probably benign Het
Maea T A 5: 33,517,722 (GRCm39) D87E probably benign Het
Man2a2 A G 7: 80,016,674 (GRCm39) I380T probably damaging Het
Mprip G T 11: 59,627,915 (GRCm39) G253W probably damaging Het
Naglu G A 11: 100,967,436 (GRCm39) R462H probably damaging Het
Nrxn1 T A 17: 90,366,979 (GRCm39) I342F probably damaging Het
Oosp1 C A 19: 11,668,369 (GRCm39) V5L probably benign Het
Or10q3 A T 19: 11,848,169 (GRCm39) M137K probably damaging Het
Or5b113 G A 19: 13,342,510 (GRCm39) V173I probably benign Het
Or6c74 A G 10: 129,869,756 (GRCm39) D87G probably damaging Het
Or7g12 T C 9: 18,900,216 (GRCm39) S311P probably benign Het
Pbrm1 T C 14: 30,752,848 (GRCm39) M95T probably damaging Het
Pcdh17 C G 14: 84,770,425 (GRCm39) R968G probably damaging Het
Pcdhb7 T G 18: 37,476,915 (GRCm39) S684A probably damaging Het
Polr1b T G 2: 128,947,200 (GRCm39) I175R probably damaging Het
Ppp3ca A G 3: 136,503,535 (GRCm39) D36G probably damaging Het
Prr14l G A 5: 33,001,735 (GRCm39) probably benign Het
Rcn2 A T 9: 55,960,266 (GRCm39) I178F probably benign Het
Sbspon T G 1: 15,930,543 (GRCm39) K148Q probably damaging Het
Scn3a A T 2: 65,338,918 (GRCm39) V587E probably damaging Het
Setd7 T A 3: 51,444,078 (GRCm39) probably null Het
Sh2d5 C A 4: 137,984,108 (GRCm39) P85T probably benign Het
Slc12a1 T A 2: 125,008,602 (GRCm39) V204D possibly damaging Het
Slc36a3 C T 11: 55,042,024 (GRCm39) G42S probably benign Het
Spink5 A G 18: 44,143,296 (GRCm39) K751R probably benign Het
Sult2a5 T A 7: 13,362,768 (GRCm39) probably null Het
Thoc5 T C 11: 4,852,306 (GRCm39) probably benign Het
Ttn A G 2: 76,805,381 (GRCm39) S153P probably damaging Het
Ubap2 A T 4: 41,221,615 (GRCm39) L228Q probably benign Het
Upk3b G A 5: 136,068,993 (GRCm39) G121S possibly damaging Het
Usp1 T A 4: 98,820,544 (GRCm39) S456R probably damaging Het
Usp28 A T 9: 48,915,202 (GRCm39) N126Y possibly damaging Het
Wdfy4 C T 14: 32,710,878 (GRCm39) V2411M possibly damaging Het
Zfp595 C T 13: 67,465,769 (GRCm39) E165K 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
R0243:Slc2a8 UTSW 2 32,870,116 (GRCm39) intron probably benign
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
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'- AAGCTGTGTGACCGAGAACC -3'
(R):5'- AATCCTCTTTAAAACTCTGCGGG -3'

Sequencing Primer
(F):5'- TGTGACCGAGAACCTGGCAC -3'
(R):5'- TCTACAGAGTGAGTTCCAGGAC -3'
Posted On 2019-12-03