Incidental Mutation 'IGL01465:Slc2a10'
ID 88079
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc2a10
Ensembl Gene ENSMUSG00000027661
Gene Name solute carrier family 2 (facilitated glucose transporter), member 10
Synonyms Glut10
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # IGL01465
Quality Score
Status
Chromosome 2
Chromosomal Location 165345817-165361837 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 165359597 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Aspartic acid at position 487 (A487D)
Ref Sequence ENSEMBL: ENSMUSP00000029196 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029196]
AlphaFold Q8VHD6
Predicted Effect possibly damaging
Transcript: ENSMUST00000029196
AA Change: A487D

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000029196
Gene: ENSMUSG00000027661
AA Change: A487D

DomainStartEndE-ValueType
Pfam:Sugar_tr 10 333 1.7e-51 PFAM
Pfam:MFS_1 14 337 1.1e-28 PFAM
Pfam:Sugar_tr 387 508 3.9e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148463
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a class III facilitative glucose transporter. Mutations in the related gene in human are associated with arterial tortuosity syndrome. [provided by RefSeq, Dec 2013]
PHENOTYPE: Mice carrying ENU-induced mutations in this gene display thickening and aberrant vessel wall shape of large and medium size arteries, with significantly increased elastic fiber number and size. Cerebral arteries appear normal with no evidence of tortuosity, stenosis/dilatation or aneurysm. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A G 6: 23,114,838 (GRCm39) probably null Het
Abracl A T 10: 17,887,399 (GRCm39) I76N probably damaging Het
Akap12 C T 10: 4,306,886 (GRCm39) T1232I probably damaging Het
Clcn6 A T 4: 148,105,908 (GRCm39) probably benign Het
Cpsf2 C A 12: 101,963,592 (GRCm39) D440E probably damaging Het
Csf2ra A G 19: 61,214,436 (GRCm39) V243A possibly damaging Het
Cyp4f18 T A 8: 72,756,288 (GRCm39) H96L probably benign Het
Dvl2 T A 11: 69,897,180 (GRCm39) I294N probably damaging Het
Fbn2 T A 18: 58,336,905 (GRCm39) N117Y probably null Het
Gdpd3 A G 7: 126,367,829 (GRCm39) I221V possibly damaging Het
Grk2 A T 19: 4,340,886 (GRCm39) C221S probably damaging Het
Idi1 T C 13: 8,940,415 (GRCm39) I199T probably benign Het
Klhl6 T C 16: 19,801,572 (GRCm39) E61G probably damaging Het
Lig1 T A 7: 13,030,317 (GRCm39) S431R probably benign Het
Lrg1 T C 17: 56,427,705 (GRCm39) E89G probably benign Het
Lrrk2 A G 15: 91,613,128 (GRCm39) K751E probably benign Het
Macf1 T A 4: 123,384,514 (GRCm39) T1128S probably benign Het
Nphs1 T C 7: 30,186,139 (GRCm39) *1243R probably null Het
Rere G A 4: 150,594,451 (GRCm39) V354I unknown Het
Safb A G 17: 56,909,974 (GRCm39) probably benign Het
Slc7a12 T A 3: 14,564,383 (GRCm39) S85R possibly damaging Het
Sorbs3 G A 14: 70,432,958 (GRCm39) probably benign Het
Ttn A G 2: 76,600,135 (GRCm39) M19013T probably damaging Het
Utp4 A G 8: 107,621,330 (GRCm39) T36A probably benign Het
Vmn2r111 A T 17: 22,767,718 (GRCm39) F593Y probably benign Het
Other mutations in Slc2a10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00226:Slc2a10 APN 2 165,356,700 (GRCm39) missense probably damaging 1.00
IGL02565:Slc2a10 APN 2 165,357,000 (GRCm39) missense probably damaging 0.99
IGL02902:Slc2a10 APN 2 165,360,142 (GRCm39) missense probably benign 0.08
PIT4362001:Slc2a10 UTSW 2 165,358,213 (GRCm39) missense probably damaging 1.00
R1453:Slc2a10 UTSW 2 165,359,570 (GRCm39) missense probably damaging 1.00
R1677:Slc2a10 UTSW 2 165,357,361 (GRCm39) missense probably benign 0.04
R1850:Slc2a10 UTSW 2 165,357,133 (GRCm39) missense probably benign 0.00
R1920:Slc2a10 UTSW 2 165,356,550 (GRCm39) missense probably damaging 1.00
R2269:Slc2a10 UTSW 2 165,356,701 (GRCm39) nonsense probably null
R3921:Slc2a10 UTSW 2 165,357,521 (GRCm39) missense probably benign 0.00
R4407:Slc2a10 UTSW 2 165,356,684 (GRCm39) missense probably damaging 1.00
R4575:Slc2a10 UTSW 2 165,358,241 (GRCm39) missense probably damaging 1.00
R4864:Slc2a10 UTSW 2 165,356,541 (GRCm39) missense probably benign 0.13
R4923:Slc2a10 UTSW 2 165,356,676 (GRCm39) missense possibly damaging 0.62
R4935:Slc2a10 UTSW 2 165,359,578 (GRCm39) missense probably benign 0.05
R4954:Slc2a10 UTSW 2 165,356,675 (GRCm39) missense probably damaging 0.99
R5681:Slc2a10 UTSW 2 165,356,660 (GRCm39) missense probably benign 0.00
R5782:Slc2a10 UTSW 2 165,356,758 (GRCm39) nonsense probably null
R6116:Slc2a10 UTSW 2 165,359,623 (GRCm39) missense probably damaging 1.00
R6713:Slc2a10 UTSW 2 165,357,128 (GRCm39) missense probably damaging 1.00
R7179:Slc2a10 UTSW 2 165,357,269 (GRCm39) missense probably damaging 1.00
R7237:Slc2a10 UTSW 2 165,357,197 (GRCm39) missense probably benign
R7568:Slc2a10 UTSW 2 165,356,802 (GRCm39) missense probably damaging 0.98
R8323:Slc2a10 UTSW 2 165,356,671 (GRCm39) missense probably benign 0.05
R8407:Slc2a10 UTSW 2 165,356,787 (GRCm39) missense possibly damaging 0.82
R9147:Slc2a10 UTSW 2 165,357,543 (GRCm39) missense possibly damaging 0.48
R9148:Slc2a10 UTSW 2 165,357,543 (GRCm39) missense possibly damaging 0.48
R9632:Slc2a10 UTSW 2 165,358,176 (GRCm39) missense probably damaging 1.00
Posted On 2013-11-18