Incidental Mutation 'IGL02607:Slc2a7'
ID300317
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc2a7
Ensembl Gene ENSMUSG00000062064
Gene Namesolute carrier family 2 (facilitated glucose transporter), member 7
SynonymsOTTMUSG00000010396
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.088) question?
Stock #IGL02607
Quality Score
Status
Chromosome4
Chromosomal Location150148972-150168482 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 150154705 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 129 (T129I)
Ref Sequence ENSEMBL: ENSMUSP00000059106 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059893]
Predicted Effect probably benign
Transcript: ENSMUST00000059893
AA Change: T129I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000059106
Gene: ENSMUSG00000062064
AA Change: T129I

DomainStartEndE-ValueType
Pfam:MFS_1 22 319 2e-15 PFAM
Pfam:Sugar_tr 26 494 7.6e-120 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133379
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC2A7 belongs to a family of transporters that catalyze the uptake of sugars through facilitated diffusion (Li et al., 2004). This family of transporters shows conservation of 12 transmembrane helices as well as functionally significant amino acid residues (Joost and Thorens, 2001 [PubMed 11780753]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110004E09Rik G A 16: 90,929,947 T98M probably damaging Het
Abca17 C T 17: 24,327,705 W307* probably null Het
Cit A G 5: 115,859,209 I84V probably benign Het
Cltc T C 11: 86,706,714 D1132G probably benign Het
Cobll1 A T 2: 65,151,085 S54T probably damaging Het
Dcstamp A G 15: 39,754,584 R130G possibly damaging Het
Dennd4a A G 9: 64,862,327 M439V probably damaging Het
Dnajc15 T A 14: 77,840,216 I110F probably damaging Het
Dock1 T C 7: 134,851,513 F824L probably benign Het
Eml2 A G 7: 19,206,111 H617R probably damaging Het
Fgd6 A T 10: 94,044,448 Q388L possibly damaging Het
Fkbp4 A T 6: 128,434,470 probably benign Het
Fmnl3 A T 15: 99,324,772 L431Q probably damaging Het
Gng8 T C 7: 16,894,934 probably benign Het
Hmcn1 T A 1: 150,744,995 I1155F possibly damaging Het
Muc4 G T 16: 32,775,819 C3135F possibly damaging Het
Mycbp2 C T 14: 103,285,273 G685D probably damaging Het
Olfr1389 T C 11: 49,430,512 F12S probably damaging Het
Pcdhb8 A T 18: 37,357,581 I771F probably benign Het
Pkn2 A G 3: 142,794,101 probably null Het
Rrn3 G T 16: 13,806,563 V420L possibly damaging Het
Samm50 A T 15: 84,207,838 Y338F probably benign Het
Tbc1d8 T C 1: 39,379,511 I806V probably benign Het
Tex2 T C 11: 106,546,747 E699G unknown Het
Vmn2r85 T C 10: 130,426,421 K150E possibly damaging Het
Other mutations in Slc2a7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01302:Slc2a7 APN 4 150157564 missense probably damaging 1.00
IGL01990:Slc2a7 APN 4 150154684 missense possibly damaging 0.89
IGL02480:Slc2a7 APN 4 150160112 missense possibly damaging 0.93
IGL02716:Slc2a7 APN 4 150160010 splice site probably benign
IGL02861:Slc2a7 APN 4 150168379 missense probably benign 0.16
IGL03343:Slc2a7 APN 4 150168340 missense probably damaging 1.00
anhedonic UTSW 4 150158558 nonsense probably null
anorectic UTSW 4 150158210 splice site probably null
paunch UTSW 4 150158148 missense probably damaging 1.00
tablemuscle UTSW 4 150168340 missense probably damaging 1.00
R0116:Slc2a7 UTSW 4 150168264 missense probably benign 0.31
R0302:Slc2a7 UTSW 4 150149521 missense probably damaging 0.99
R0309:Slc2a7 UTSW 4 150158071 splice site probably benign
R0367:Slc2a7 UTSW 4 150166366 missense probably benign 0.03
R1485:Slc2a7 UTSW 4 150166396 missense probably damaging 1.00
R1542:Slc2a7 UTSW 4 150168471 missense probably damaging 1.00
R1544:Slc2a7 UTSW 4 150154686 missense probably damaging 1.00
R3973:Slc2a7 UTSW 4 150158210 splice site probably null
R4399:Slc2a7 UTSW 4 150158550 missense probably damaging 1.00
R4467:Slc2a7 UTSW 4 150163274 missense possibly damaging 0.95
R4712:Slc2a7 UTSW 4 150168469 missense probably benign 0.00
R5066:Slc2a7 UTSW 4 150160116 missense probably damaging 1.00
R5510:Slc2a7 UTSW 4 150160094 missense probably benign 0.00
R5995:Slc2a7 UTSW 4 150168340 missense probably damaging 1.00
R6017:Slc2a7 UTSW 4 150165172 missense probably damaging 0.99
R6062:Slc2a7 UTSW 4 150168427 missense probably benign
R6185:Slc2a7 UTSW 4 150148993 missense probably benign 0.00
R6730:Slc2a7 UTSW 4 150158148 missense probably damaging 1.00
R7753:Slc2a7 UTSW 4 150154684 missense possibly damaging 0.89
R8145:Slc2a7 UTSW 4 150168361 missense probably damaging 1.00
R8203:Slc2a7 UTSW 4 150158558 nonsense probably null
R8512:Slc2a7 UTSW 4 150163295 missense probably benign 0.23
Posted On2015-04-16