Incidental Mutation 'R6713:Slc2a10'
ID 529196
Institutional Source Beutler Lab
Gene Symbol Slc2a10
Ensembl Gene ENSMUSG00000027661
Gene Name solute carrier family 2 (facilitated glucose transporter), member 10
Synonyms Glut10
MMRRC Submission 044831-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R6713 (G1)
Quality Score 171.009
Status Validated
Chromosome 2
Chromosomal Location 165345817-165361837 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 165357128 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 263 (F263L)
Ref Sequence ENSEMBL: ENSMUSP00000029196 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029196]
AlphaFold Q8VHD6
Predicted Effect probably damaging
Transcript: ENSMUST00000029196
AA Change: F263L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029196
Gene: ENSMUSG00000027661
AA Change: F263L

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.9%
Validation Efficiency 100% (39/39)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apol10a C T 15: 77,373,051 (GRCm39) T229M possibly damaging Het
Cdh16 G A 8: 105,346,617 (GRCm39) Q226* probably null Het
Cemip A T 7: 83,592,845 (GRCm39) N1227K probably benign Het
Dusp13b A G 14: 21,798,541 (GRCm39) V41A probably damaging Het
F3 C T 3: 121,525,323 (GRCm39) T53I possibly damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fyb2 T A 4: 104,847,432 (GRCm39) M484K probably benign Het
Glb1l A T 1: 75,179,061 (GRCm39) H253Q probably benign Het
Grm8 T C 6: 27,363,190 (GRCm39) E775G probably damaging Het
Hipk3 C T 2: 104,276,916 (GRCm39) V388M probably damaging Het
Ighe T C 12: 113,232,908 (GRCm39) probably benign Het
Kif14 A G 1: 136,453,544 (GRCm39) T1491A probably benign Het
Klre1 A G 6: 129,559,229 (GRCm39) probably null Het
Kpna6 A T 4: 129,547,777 (GRCm39) L257M probably damaging Het
Ldhc G A 7: 46,515,955 (GRCm39) probably null Het
Lekr1 C A 3: 65,591,380 (GRCm39) A39D probably benign Het
Lins1 A G 7: 66,358,230 (GRCm39) T122A probably benign Het
Lrrc40 G A 3: 157,769,350 (GRCm39) R516Q probably benign Het
Meis3 G T 7: 15,916,255 (GRCm39) G72* probably null Het
Mpo A G 11: 87,686,194 (GRCm39) T115A probably damaging Het
Mrgprb5 A G 7: 47,818,537 (GRCm39) V66A probably damaging Het
Myo1c C T 11: 75,562,461 (GRCm39) P918S probably benign Het
Nags C A 11: 102,037,347 (GRCm39) A146E probably benign Het
Nkain4 C T 2: 180,585,970 (GRCm39) G31D probably damaging Het
Or2y1 T G 11: 49,385,784 (GRCm39) C141W probably damaging Het
Or4k1 T A 14: 50,377,181 (GRCm39) H305L probably benign Het
Or5ak24 A C 2: 85,260,883 (GRCm39) C97G probably damaging Het
Or8a1 A G 9: 37,641,560 (GRCm39) C240R probably damaging Het
Otud6b C T 4: 14,822,739 (GRCm39) V122I probably benign Het
Ovca2 C T 11: 75,069,569 (GRCm39) S18N possibly damaging Het
Pax2 A G 19: 44,823,916 (GRCm39) S370G unknown Het
Pias2 G A 18: 77,153,416 (GRCm39) probably null Het
Slc6a17 T G 3: 107,378,703 (GRCm39) M660L probably benign Het
Smarcc2 A G 10: 128,323,638 (GRCm39) probably null Het
Srcap A G 7: 127,134,089 (GRCm39) T937A probably benign Het
Ssh2 C A 11: 77,340,259 (GRCm39) D470E possibly damaging Het
St8sia1 A T 6: 142,775,008 (GRCm39) probably null Het
Supt20 T A 3: 54,606,022 (GRCm39) I36K possibly damaging Het
Tor1aip2 T A 1: 155,941,155 (GRCm39) L487Q probably damaging Het
Zfp619 G T 7: 39,187,322 (GRCm39) K1117N probably damaging Het
Other mutations in Slc2a10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00226:Slc2a10 APN 2 165,356,700 (GRCm39) missense probably damaging 1.00
IGL01465:Slc2a10 APN 2 165,359,597 (GRCm39) missense possibly damaging 0.88
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
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
Predicted Primers PCR Primer
(F):5'- AGACCTTATCCCACTCCAGG -3'
(R):5'- CATTGGTGTGTAGCACTGGC -3'

Sequencing Primer
(F):5'- TCCAGGGAAGGGAGACAAGC -3'
(R):5'- TTCCAGGCAGATCCACCTG -3'
Posted On 2018-07-24