Incidental Mutation 'PIT4362001:Slc2a10'
ID 554604
Institutional Source Beutler Lab
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 # PIT4362001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 165345817-165361837 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 165358213 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 446 (F446Y)
Ref Sequence ENSEMBL: ENSMUSP00000029196 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029196]
AlphaFold Q8VHD6
Predicted Effect probably damaging
Transcript: ENSMUST00000029196
AA Change: F446Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029196
Gene: ENSMUSG00000027661
AA Change: F446Y

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
Coding Region Coverage
  • 1x: 93.4%
  • 3x: 91.2%
  • 10x: 87.0%
  • 20x: 78.3%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg1 T C 17: 31,283,398 (GRCm39) S28P possibly damaging Het
Akr1c14 T C 13: 4,129,100 (GRCm39) V165A probably damaging Het
Aox1 A T 1: 58,321,839 (GRCm39) T44S probably damaging Het
Arhgap29 T A 3: 121,796,861 (GRCm39) N482K probably benign Het
Arhgef38 T A 3: 132,866,591 (GRCm39) D182V Het
Atad5 C T 11: 80,002,393 (GRCm39) H1062Y probably benign Het
Atp6v0b A G 4: 117,742,453 (GRCm39) S147P possibly damaging Het
Cblb T A 16: 51,959,905 (GRCm39) Y299* probably null Het
Ccdc28b T C 4: 129,514,818 (GRCm39) N97S probably benign Het
Cdh23 A G 10: 60,301,237 (GRCm39) V479A probably benign Het
Chuk A G 19: 44,087,022 (GRCm39) probably null Het
Cmtr2 G A 8: 110,948,968 (GRCm39) G426D probably damaging Het
Cog4 G A 8: 111,593,304 (GRCm39) D472N probably damaging Het
Creb3 T A 4: 43,565,472 (GRCm39) L193* probably null Het
Cxcr6 A T 9: 123,639,526 (GRCm39) I183F probably benign Het
Dbf4 A G 5: 8,453,664 (GRCm39) F253L probably benign Het
Dcaf8 T C 1: 172,000,364 (GRCm39) V174A probably damaging Het
Ddhd2 T C 8: 26,225,779 (GRCm39) Y526C probably damaging Het
Dnal4 A G 15: 79,647,766 (GRCm39) V33A probably benign Het
Egfl7 C T 2: 26,481,052 (GRCm39) P188L probably benign Het
Ephb3 A G 16: 21,039,607 (GRCm39) E707G probably damaging Het
Epn3 C T 11: 94,387,349 (GRCm39) R7H probably damaging Het
Fbp1 T A 13: 63,015,194 (GRCm39) I262F probably damaging Het
Fgfbp3 G A 19: 36,896,088 (GRCm39) R177* probably null Het
Gask1b C A 3: 79,794,246 (GRCm39) S238Y possibly damaging Het
Gbp5 T C 3: 142,206,471 (GRCm39) S52P probably damaging Het
Glb1l2 A T 9: 26,685,277 (GRCm39) S282T probably benign Het
Glg1 A T 8: 111,985,431 (GRCm39) V133E possibly damaging Het
Gm4787 T G 12: 81,423,949 (GRCm39) L736F probably benign Het
Gm5565 A T 5: 146,095,109 (GRCm39) S212R probably benign Het
Grin2c T C 11: 115,140,459 (GRCm39) T1220A probably benign Het
Grp T G 18: 66,019,297 (GRCm39) S133A probably benign Het
Gstp2 C A 19: 4,090,713 (GRCm39) D147Y possibly damaging Het
Igkv14-130 T C 6: 67,768,392 (GRCm39) F84L probably damaging Het
Inppl1 T C 7: 101,475,220 (GRCm39) R944G probably benign Het
Lama2 A T 10: 27,245,132 (GRCm39) N216K probably damaging Het
Lrp2 T A 2: 69,367,882 (GRCm39) D210V probably damaging Het
Lrrc2 A T 9: 110,791,608 (GRCm39) Q120L possibly damaging Het
Lrriq1 A G 10: 102,907,055 (GRCm39) I1555T probably benign Het
Map2 G A 1: 66,451,677 (GRCm39) G189D probably benign Het
Mdc1 A G 17: 36,155,361 (GRCm39) E12G possibly damaging Het
Mdga2 T C 12: 66,844,542 (GRCm39) D152G possibly damaging Het
Med23 A G 10: 24,750,469 (GRCm39) M99V probably benign Het
Mutyh G A 4: 116,674,267 (GRCm39) V273M probably damaging Het
Neurod2 T A 11: 98,218,708 (GRCm39) Y152F probably damaging Het
Or5d3 C T 2: 88,174,357 (GRCm39) A247T probably benign Het
Or5g25 A C 2: 85,478,068 (GRCm39) L199R probably damaging Het
Or8c20 G T 9: 38,260,494 (GRCm39) L32F probably benign Het
Pcdh20 G C 14: 88,704,462 (GRCm39) P946R probably damaging Het
Pde6b T C 5: 108,571,451 (GRCm39) probably null Het
Pdzrn4 A T 15: 92,667,762 (GRCm39) D638V possibly damaging Het
Polr1b A G 2: 128,951,212 (GRCm39) D275G possibly damaging Het
Rnf157 T A 11: 116,251,143 (GRCm39) D127V probably damaging Het
Rspo4 T A 2: 151,709,803 (GRCm39) C69* probably null Het
Scara3 T C 14: 66,173,851 (GRCm39) T63A probably benign Het
Scn2a G A 2: 65,514,182 (GRCm39) E289K probably benign Het
Sh3gl2 A G 4: 85,295,786 (GRCm39) T163A probably benign Het
Snapc1 C T 12: 74,029,269 (GRCm39) R351C probably damaging Het
Snx6 A G 12: 54,814,815 (GRCm39) Y169H possibly damaging Het
Stab2 A T 10: 86,697,299 (GRCm39) C1996* probably null Het
Steap4 A G 5: 8,030,337 (GRCm39) T398A probably benign Het
Tep1 A T 14: 51,103,510 (GRCm39) L260Q probably benign Het
Tspan12 A T 6: 21,835,463 (GRCm39) V70D possibly damaging Het
Ttn G A 2: 76,569,362 (GRCm39) A27177V probably damaging Het
Ube3a T C 7: 58,925,870 (GRCm39) V237A possibly damaging Het
Vil1 G A 1: 74,460,542 (GRCm39) R233H probably damaging Het
Xrcc5 A G 1: 72,433,088 (GRCm39) T716A probably benign Het
Zbp1 A G 2: 173,058,783 (GRCm39) I18T probably damaging Het
Zfp292 A G 4: 34,807,524 (GRCm39) V1845A probably benign Het
Zfp407 A T 18: 84,579,393 (GRCm39) N573K possibly damaging Het
Zfp64 T C 2: 168,767,735 (GRCm39) T626A probably benign 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
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
Predicted Primers PCR Primer
(F):5'- CATCTGAGAGAATCTGGGGC -3'
(R):5'- CCGCTCATTTAGGTGACCTAAG -3'

Sequencing Primer
(F):5'- TCTGGGGCCAAGAGCATGAC -3'
(R):5'- GATAAAGCAGTCCTTTCCGATTCAC -3'
Posted On 2019-06-07