Incidental Mutation 'R8519:Slc2a12'
ID 658543
Institutional Source Beutler Lab
Gene Symbol Slc2a12
Ensembl Gene ENSMUSG00000037490
Gene Name solute carrier family 2 (facilitated glucose transporter), member 12
Synonyms Glut12, GLUT-12
MMRRC Submission 067946-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8519 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 22520910-22580184 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 22540678 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 178 (M178L)
Ref Sequence ENSEMBL: ENSMUSP00000043962 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042261]
AlphaFold Q8BFW9
Predicted Effect probably damaging
Transcript: ENSMUST00000042261
AA Change: M178L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000043962
Gene: ENSMUSG00000037490
AA Change: M178L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (67/67)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts14 T C 10: 61,038,619 (GRCm39) T964A possibly damaging Het
Adamts7 G A 9: 90,075,610 (GRCm39) W1156* probably null Het
Adcy9 T C 16: 4,105,992 (GRCm39) I1041V possibly damaging Het
Armh4 T C 14: 50,010,693 (GRCm39) D338G probably damaging Het
Art4 C A 6: 136,831,349 (GRCm39) probably null Het
Bcl9 A G 3: 97,116,334 (GRCm39) S787P probably benign Het
Bptf T C 11: 106,952,590 (GRCm39) T2088A probably damaging Het
Cdc45 T C 16: 18,627,597 (GRCm39) N76S probably damaging Het
Cdon A G 9: 35,389,950 (GRCm39) D868G probably damaging Het
Cldn10 T G 14: 119,092,439 (GRCm39) V13G probably benign Het
Cnot6 G T 11: 49,575,941 (GRCm39) Q178K probably benign Het
Crot T C 5: 9,023,629 (GRCm39) I420V probably benign Het
Csgalnact1 T A 8: 68,854,105 (GRCm39) H232L possibly damaging Het
Cuzd1 T C 7: 130,910,626 (GRCm39) I556M possibly damaging Het
Cyp2c54 G A 19: 40,026,857 (GRCm39) R433W probably damaging Het
Cyp2j11 A G 4: 96,207,539 (GRCm39) F259L probably benign Het
Dhx9 C T 1: 153,348,922 (GRCm39) G264R probably damaging Het
Dnah5 G A 15: 28,299,245 (GRCm39) V1536M probably benign Het
Erlin1 T A 19: 44,058,041 (GRCm39) probably benign Het
Foxb2 C A 19: 16,850,347 (GRCm39) V220L possibly damaging Het
Gigyf2 A T 1: 87,338,431 (GRCm39) T388S probably benign Het
Gimap5 T C 6: 48,730,068 (GRCm39) C213R probably benign Het
Gkap1 T G 13: 58,386,506 (GRCm39) K57N probably damaging Het
H60b T G 10: 22,159,421 (GRCm39) probably benign Het
Hectd4 C T 5: 121,442,489 (GRCm39) R670* probably null Het
Hoxc9 A G 15: 102,892,341 (GRCm39) N185D probably damaging Het
Igkv1-117 A G 6: 68,098,766 (GRCm39) E105G possibly damaging Het
Klk10 T A 7: 43,432,239 (GRCm39) Y57* probably null Het
Lrrc63 A T 14: 75,363,312 (GRCm39) I273K possibly damaging Het
M6pr T C 6: 122,292,025 (GRCm39) I119T probably damaging Het
Mael T C 1: 166,063,127 (GRCm39) probably null Het
Magi1 A G 6: 93,681,330 (GRCm39) S574P possibly damaging Het
Man2c1 A G 9: 57,044,061 (GRCm39) D291G probably benign Het
Mapk1ip1l A T 14: 47,547,920 (GRCm39) probably benign Het
Mrc2 A G 11: 105,238,132 (GRCm39) T1135A possibly damaging Het
Mrpl39 A G 16: 84,527,736 (GRCm39) V164A probably benign Het
Mynn C A 3: 30,661,290 (GRCm39) P124H probably damaging Het
Or11l3 T G 11: 58,516,800 (GRCm39) Q23P probably damaging Het
Or14n1-ps1 A T 7: 86,093,062 (GRCm39) N291I probably damaging Het
Or2k2 A G 4: 58,785,203 (GRCm39) I173T probably damaging Het
Or2t48 A G 11: 58,420,329 (GRCm39) F161S possibly damaging Het
Or6k2 A G 1: 173,986,614 (GRCm39) I92V probably damaging Het
Pcif1 A G 2: 164,726,303 (GRCm39) N68S probably damaging Het
Pcm1 T A 8: 41,728,976 (GRCm39) N649K probably damaging Het
Pira1 T C 7: 3,740,432 (GRCm39) Q263R probably benign Het
Plxna2 T A 1: 194,476,266 (GRCm39) I1162N probably damaging Het
Pnp2 T A 14: 51,201,842 (GRCm39) L276Q probably damaging Het
Sirpb1c T A 3: 15,902,526 (GRCm39) I18F possibly damaging Het
Slc35c1 G T 2: 92,285,052 (GRCm39) F187L probably benign Het
Smg1 T C 7: 117,770,982 (GRCm39) probably benign Het
Spmip6 A G 4: 41,505,071 (GRCm39) S214P possibly damaging Het
Spopfm2 T C 3: 94,083,497 (GRCm39) M105V probably benign Het
Stn1 T C 19: 47,490,111 (GRCm39) H342R probably benign Het
Sult1c2 A T 17: 54,276,709 (GRCm39) H117Q probably damaging Het
Thap1 G A 8: 26,650,925 (GRCm39) R42K probably damaging Het
Tpp2 A T 1: 44,016,365 (GRCm39) probably null Het
Trib2 G T 12: 15,865,347 (GRCm39) P76Q probably damaging Het
Ttc24 G T 3: 87,980,369 (GRCm39) Q111K probably damaging Het
Ubr4 T C 4: 139,143,958 (GRCm39) S1401P probably damaging Het
Uggt1 A C 1: 36,215,724 (GRCm39) probably null Het
Ugt2b1 A G 5: 87,074,326 (GRCm39) L11S probably damaging Het
Uso1 T G 5: 92,343,222 (GRCm39) S769A probably benign Het
Vmn2r117 T C 17: 23,698,442 (GRCm39) T44A probably benign Het
Vmn2r28 T A 7: 5,489,347 (GRCm39) L497F probably benign Het
Vsig10l G A 7: 43,114,326 (GRCm39) S318N probably benign Het
Wbp4 A G 14: 79,714,263 (GRCm39) L83P probably damaging Het
Wnk1 G A 6: 119,927,044 (GRCm39) R1510W probably damaging Het
Zc3hav1l C T 6: 38,272,176 (GRCm39) V198M probably damaging Het
Zfp1004 A G 2: 150,034,700 (GRCm39) I340M probably benign Het
Other mutations in Slc2a12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01392:Slc2a12 APN 10 22,540,583 (GRCm39) missense probably damaging 0.97
IGL02472:Slc2a12 APN 10 22,541,054 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- CCTCCTAGGACTTGGAAGCTTG -3'
(R):5'- TTCAGTGGTGTCTGAGATCAC -3'

Sequencing Primer
(F):5'- ACTTGGAAGCTTGGTCTTGATAATG -3'
(R):5'- GAGATCACTCTTAACTTCCTGAGGAC -3'
Posted On 2021-01-18