Incidental Mutation 'R4212:Slc2a12'
ID 319253
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 041641-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4212 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 22520910-22580184 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 22577993 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 596 (K596N)
Ref Sequence ENSEMBL: ENSMUSP00000043962 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042261] [ENSMUST00000095794] [ENSMUST00000127698]
AlphaFold Q8BFW9
Predicted Effect probably benign
Transcript: ENSMUST00000042261
AA Change: K596N

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000043962
Gene: ENSMUSG00000037490
AA Change: K596N

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 probably benign
Transcript: ENSMUST00000095794
SMART Domains Protein: ENSMUSP00000093470
Gene: ENSMUSG00000071359

DomainStartEndE-ValueType
Pfam:TBP 8 92 8.3e-24 PFAM
Pfam:TBP 97 182 4.5e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127698
SMART Domains Protein: ENSMUSP00000114223
Gene: ENSMUSG00000071359

DomainStartEndE-ValueType
Pfam:TBP 10 91 2.4e-25 PFAM
Pfam:TBP 99 181 1.8e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141569
Meta Mutation Damage Score 0.0771 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.8%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg G T 15: 60,791,585 (GRCm39) L284M possibly damaging Het
Adamts15 A G 9: 30,817,470 (GRCm39) V536A probably damaging Het
Arsi A T 18: 61,049,773 (GRCm39) I219F probably damaging Het
Atg7 G A 6: 114,680,386 (GRCm39) G447E probably benign Het
Bdp1 T A 13: 100,196,093 (GRCm39) H1223L probably benign Het
Cep152 A G 2: 125,461,921 (GRCm39) M87T probably benign Het
Chrm3 T C 13: 9,927,791 (GRCm39) D415G probably benign Het
Chrnb2 A T 3: 89,668,851 (GRCm39) C155S probably damaging Het
Col6a4 T A 9: 105,952,569 (GRCm39) Q443L probably benign Het
Ct45a C T X: 55,590,568 (GRCm39) V78I probably benign Het
D5Ertd579e A T 5: 36,771,823 (GRCm39) D857E probably damaging Het
Efcab6 T C 15: 83,777,064 (GRCm39) D1124G probably damaging Het
F830045P16Rik C T 2: 129,302,273 (GRCm39) A440T probably benign Het
Gc T C 5: 89,583,434 (GRCm39) K370E probably benign Het
Gm11559 A G 11: 99,755,726 (GRCm39) Q125R unknown Het
Gm3985 A T 8: 33,432,484 (GRCm39) noncoding transcript Het
Gucy2e A G 11: 69,118,949 (GRCm39) F681S probably damaging Het
Hip1r A G 5: 124,137,953 (GRCm39) I760V probably benign Het
Islr2 C T 9: 58,106,603 (GRCm39) G219D probably damaging Het
Itgae A G 11: 73,010,178 (GRCm39) H556R probably benign Het
Jag1 T C 2: 136,926,990 (GRCm39) D923G probably benign Het
Kmt2c A G 5: 25,552,357 (GRCm39) probably null Het
Kmt2d A G 15: 98,742,884 (GRCm39) probably benign Het
Krtap17-1 A G 11: 99,884,740 (GRCm39) L9P unknown Het
Lats2 C T 14: 57,933,712 (GRCm39) D802N possibly damaging Het
Lrfn5 A T 12: 61,890,606 (GRCm39) T632S probably benign Het
Myo9a C T 9: 59,813,349 (GRCm39) R2183* probably null Het
Myorg T C 4: 41,498,307 (GRCm39) E441G probably benign Het
Naip1 T C 13: 100,563,383 (GRCm39) probably null Het
Nf1 T A 11: 79,360,624 (GRCm39) V1434E probably damaging Het
Nlrc4 T C 17: 74,754,110 (GRCm39) Y91C possibly damaging Het
Or4l1 A T 14: 50,166,346 (GRCm39) Y218* probably null Het
Or5b102 T G 19: 13,041,123 (GRCm39) M116R probably damaging Het
Or5k1 T A 16: 58,617,732 (GRCm39) H159L possibly damaging Het
Pard3 T A 8: 128,336,939 (GRCm39) I1143K probably benign Het
Pcdha7 A G 18: 37,108,027 (GRCm39) T351A probably benign Het
Phf2 C A 13: 48,974,089 (GRCm39) G318V unknown Het
Plch1 T A 3: 63,778,180 (GRCm39) probably benign Het
Polr1c A G 17: 46,557,046 (GRCm39) I79T probably damaging Het
Ppp2r5e A G 12: 75,516,325 (GRCm39) I244T probably damaging Het
Psmd12 T C 11: 107,376,585 (GRCm39) C74R probably damaging Het
Qng1 C T 13: 58,529,805 (GRCm39) G269E probably damaging Het
Ralgapa1 A G 12: 55,786,115 (GRCm39) probably null Het
Robo3 C T 9: 37,333,194 (GRCm39) G781D probably damaging Het
Scn8a T C 15: 100,854,954 (GRCm39) V147A possibly damaging Het
Sema3b C T 9: 107,480,597 (GRCm39) V117M probably damaging Het
Sfxn5 A T 6: 85,309,288 (GRCm39) L139* probably null Het
Sorcs1 G A 19: 50,213,613 (GRCm39) R705C probably damaging Het
Spata31e4 C T 13: 50,854,388 (GRCm39) T82I possibly damaging Het
Tlr4 T A 4: 66,758,563 (GRCm39) I452N probably damaging Het
Tshz3 A G 7: 36,469,544 (GRCm39) D511G probably damaging Het
Usp44 A G 10: 93,682,632 (GRCm39) K314E possibly damaging 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
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
Predicted Primers PCR Primer
(F):5'- TCAAGCACATTAAGGCTTCACAG -3'
(R):5'- TCAGGACATTGGTGCCTCTTG -3'

Sequencing Primer
(F):5'- GGCTTCACAGTAAAAACGTTTTTCC -3'
(R):5'- GCCTCTTGTACCTTTTGGCAAAAG -3'
Posted On 2015-06-10