Incidental Mutation 'IGL02472:Slc2a12'
ID 294774
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc2a12
Ensembl Gene ENSMUSG00000037490
Gene Name solute carrier family 2 (facilitated glucose transporter), member 12
Synonyms Glut12, GLUT-12
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02472
Quality Score
Status
Chromosome 10
Chromosomal Location 22520910-22580184 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 22541054 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 303 (F303S)
Ref Sequence ENSEMBL: ENSMUSP00000043962 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042261]
AlphaFold Q8BFW9
Predicted Effect probably damaging
Transcript: ENSMUST00000042261
AA Change: F303S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043962
Gene: ENSMUSG00000037490
AA Change: F303S

DomainStartEndE-ValueType
Pfam:MFS_1 42 390 5.3e-27 PFAM
Pfam:Sugar_tr 47 381 9.1e-76 PFAM
Pfam:Sugar_tr 451 569 4e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159174
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC2A12 belongs to a family of transporters that catalyze the uptake of sugars through facilitated diffusion (Rogers et al., 2002). This family of transporters show 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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik A G 15: 76,834,578 (GRCm39) N158S probably damaging Het
Ankrd17 A C 5: 90,412,010 (GRCm39) L1285V probably damaging Het
Atp8b2 G A 3: 89,861,546 (GRCm39) T267I probably damaging Het
Becn1 C T 11: 101,182,224 (GRCm39) G115D probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Chd6 A C 2: 160,826,372 (GRCm39) probably benign Het
Col22a1 A G 15: 71,699,602 (GRCm39) probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dnm2 A G 9: 21,397,004 (GRCm39) I494V possibly damaging Het
Dock2 T A 11: 34,199,801 (GRCm39) E1416D probably benign Het
Eif2ak1 A G 5: 143,821,701 (GRCm39) H339R probably benign Het
Espnl C T 1: 91,268,256 (GRCm39) P294L probably benign Het
Ftmt T A 18: 52,464,912 (GRCm39) I76N possibly damaging Het
Gorasp2 T G 2: 70,506,803 (GRCm39) probably benign Het
Hadhb T A 5: 30,389,061 (GRCm39) M468K possibly damaging Het
Hfm1 A G 5: 107,021,794 (GRCm39) probably benign Het
Inpp5j T C 11: 3,445,338 (GRCm39) probably benign Het
Ipo7 T A 7: 109,640,060 (GRCm39) F288I probably damaging Het
Kcnv1 T A 15: 44,972,519 (GRCm39) K455* probably null Het
Kdm5a A G 6: 120,383,691 (GRCm39) probably benign Het
Kmt2d G A 15: 98,747,958 (GRCm39) S3122F probably benign Het
Kndc1 A G 7: 139,490,817 (GRCm39) I440V probably benign Het
Mib2 T A 4: 155,741,203 (GRCm39) I545F probably damaging Het
Nav2 C T 7: 49,195,789 (GRCm39) P1055L probably damaging Het
Or4c10b T A 2: 89,711,755 (GRCm39) I195N probably benign Het
Or5v1b C A 17: 37,841,640 (GRCm39) F257L probably damaging Het
Plch1 A T 3: 63,609,270 (GRCm39) L65Q probably damaging Het
Polr1g T C 7: 19,093,030 (GRCm39) D50G probably damaging Het
Ppp3ca A G 3: 136,627,623 (GRCm39) I396V possibly damaging Het
Ryr1 A T 7: 28,740,269 (GRCm39) N3917K probably damaging Het
Scn7a T C 2: 66,582,658 (GRCm39) T80A probably damaging Het
Sema3f C T 9: 107,564,935 (GRCm39) E307K probably damaging Het
Serpinb9b A T 13: 33,223,953 (GRCm39) probably benign Het
Siglec15 T A 18: 78,086,832 (GRCm39) K342N possibly damaging Het
Slc9c1 T C 16: 45,400,505 (GRCm39) V705A probably benign Het
Tenm4 T C 7: 96,423,383 (GRCm39) probably benign Het
Tm6sf1 A T 7: 81,525,572 (GRCm39) probably benign Het
Tmem245 T C 4: 56,899,119 (GRCm39) Y269C probably damaging Het
Txndc2 A G 17: 65,944,971 (GRCm39) I402T possibly damaging Het
Ube4b A G 4: 149,471,536 (GRCm39) probably null Het
Usp28 T A 9: 48,949,069 (GRCm39) Y863N possibly damaging Het
Vmn2r69 T C 7: 85,058,960 (GRCm39) I534V probably benign Het
Wdr89 A T 12: 75,679,743 (GRCm39) D170E probably damaging Het
Zfp280d C A 9: 72,208,993 (GRCm39) N74K probably damaging Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Other mutations in Slc2a12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01392:Slc2a12 APN 10 22,540,583 (GRCm39) missense probably damaging 0.97
IGL03387:Slc2a12 APN 10 22,541,134 (GRCm39) missense probably damaging 1.00
IGL03412:Slc2a12 APN 10 22,540,868 (GRCm39) missense probably damaging 1.00
R0537:Slc2a12 UTSW 10 22,540,967 (GRCm39) missense probably damaging 1.00
R0539:Slc2a12 UTSW 10 22,568,129 (GRCm39) missense probably benign 0.04
R0744:Slc2a12 UTSW 10 22,577,915 (GRCm39) unclassified probably benign
R0833:Slc2a12 UTSW 10 22,577,915 (GRCm39) unclassified probably benign
R1056:Slc2a12 UTSW 10 22,541,350 (GRCm39) missense probably benign 0.05
R1926:Slc2a12 UTSW 10 22,541,141 (GRCm39) missense probably damaging 1.00
R2188:Slc2a12 UTSW 10 22,540,736 (GRCm39) missense probably benign 0.01
R2471:Slc2a12 UTSW 10 22,540,706 (GRCm39) missense probably damaging 1.00
R4212:Slc2a12 UTSW 10 22,577,993 (GRCm39) missense probably benign 0.02
R4213:Slc2a12 UTSW 10 22,577,993 (GRCm39) missense probably benign 0.02
R4543:Slc2a12 UTSW 10 22,540,685 (GRCm39) missense probably damaging 1.00
R5203:Slc2a12 UTSW 10 22,568,117 (GRCm39) missense probably benign
R5203:Slc2a12 UTSW 10 22,521,213 (GRCm39) critical splice donor site probably null
R5223:Slc2a12 UTSW 10 22,577,931 (GRCm39) missense probably damaging 0.99
R5500:Slc2a12 UTSW 10 22,541,036 (GRCm39) missense probably damaging 1.00
R6119:Slc2a12 UTSW 10 22,541,246 (GRCm39) missense probably damaging 1.00
R6149:Slc2a12 UTSW 10 22,540,401 (GRCm39) missense probably benign 0.05
R6281:Slc2a12 UTSW 10 22,541,219 (GRCm39) missense probably damaging 1.00
R6330:Slc2a12 UTSW 10 22,540,894 (GRCm39) missense probably benign 0.00
R6385:Slc2a12 UTSW 10 22,569,929 (GRCm39) missense possibly damaging 0.69
R6623:Slc2a12 UTSW 10 22,540,799 (GRCm39) missense probably damaging 1.00
R6895:Slc2a12 UTSW 10 22,568,084 (GRCm39) missense probably damaging 1.00
R7080:Slc2a12 UTSW 10 22,541,216 (GRCm39) missense probably benign 0.34
R7152:Slc2a12 UTSW 10 22,541,453 (GRCm39) missense probably benign 0.00
R7592:Slc2a12 UTSW 10 22,540,802 (GRCm39) missense probably damaging 1.00
R7641:Slc2a12 UTSW 10 22,569,893 (GRCm39) missense probably damaging 0.98
R7674:Slc2a12 UTSW 10 22,569,893 (GRCm39) missense probably damaging 0.98
R7736:Slc2a12 UTSW 10 22,540,717 (GRCm39) missense probably damaging 1.00
R7822:Slc2a12 UTSW 10 22,540,568 (GRCm39) missense probably damaging 1.00
R8519:Slc2a12 UTSW 10 22,540,678 (GRCm39) missense probably damaging 0.99
R8754:Slc2a12 UTSW 10 22,521,116 (GRCm39) missense probably benign 0.06
R8799:Slc2a12 UTSW 10 22,568,105 (GRCm39) missense possibly damaging 0.94
R9099:Slc2a12 UTSW 10 22,569,923 (GRCm39) missense possibly damaging 0.94
R9224:Slc2a12 UTSW 10 22,541,261 (GRCm39) missense possibly damaging 0.73
R9283:Slc2a12 UTSW 10 22,540,511 (GRCm39) missense probably damaging 0.99
R9294:Slc2a12 UTSW 10 22,540,994 (GRCm39) missense possibly damaging 0.79
R9576:Slc2a12 UTSW 10 22,578,004 (GRCm39) missense possibly damaging 0.62
Z1177:Slc2a12 UTSW 10 22,521,140 (GRCm39) missense probably benign 0.06
Posted On 2015-04-16