Incidental Mutation 'R6119:Slc2a12'
ID 485665
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 044429-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6119 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 22520910-22580184 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 22541246 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 367 (I367N)
Ref Sequence ENSEMBL: ENSMUSP00000043962 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042261]
AlphaFold Q8BFW9
Predicted Effect probably damaging
Transcript: ENSMUST00000042261
AA Change: I367N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000043962
Gene: ENSMUSG00000037490
AA Change: I367N

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
Meta Mutation Damage Score 0.3200 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.2%
Validation Efficiency 100% (53/53)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik C T 7: 27,265,138 (GRCm39) R97* probably null Het
4930544D05Rik G A 11: 70,507,317 (GRCm39) A121T probably damaging Het
Abtb2 A T 2: 103,532,655 (GRCm39) E484D probably benign Het
Ankk1 A T 9: 49,338,183 (GRCm39) W37R possibly damaging Het
Arhgap11a C A 2: 113,664,695 (GRCm39) M529I probably benign Het
Btd G A 14: 31,363,065 (GRCm39) probably benign Het
Ddx47 T C 6: 135,000,318 (GRCm39) I438T probably benign Het
Dnhd1 A G 7: 105,358,647 (GRCm39) T3379A probably benign Het
Dusp3 A G 11: 101,871,495 (GRCm39) probably benign Het
Dync1h1 A G 12: 110,594,440 (GRCm39) K1289E possibly damaging Het
Egf A T 3: 129,530,421 (GRCm39) I247N probably benign Het
Erich1 A G 8: 14,083,692 (GRCm39) L126P probably benign Het
Fat3 T A 9: 16,287,864 (GRCm39) H553L possibly damaging Het
Gdpgp1 T C 7: 79,888,740 (GRCm39) L257P probably damaging Het
Gimap8 T C 6: 48,635,888 (GRCm39) I551T possibly damaging Het
Gnptab C A 10: 88,267,257 (GRCm39) D449E probably damaging Het
Grb10 T C 11: 11,883,551 (GRCm39) D513G probably damaging Het
Grin1 T G 2: 25,195,170 (GRCm39) D283A probably damaging Het
Gtf2i A T 5: 134,315,911 (GRCm39) probably null Het
Ip6k3 A G 17: 27,367,599 (GRCm39) V199A possibly damaging Het
Kif17 T A 4: 138,015,643 (GRCm39) Y405* probably null Het
Lair1 T C 7: 4,031,895 (GRCm39) M71V probably benign Het
Mamdc2 G A 19: 23,330,679 (GRCm39) T376M probably damaging Het
Msra G A 14: 64,678,183 (GRCm39) R38C probably damaging Het
Mthfd1 A T 12: 76,350,447 (GRCm39) I462F probably damaging Het
Nbr1 A G 11: 101,457,938 (GRCm39) probably null Het
Neb A G 2: 52,110,943 (GRCm39) M181T probably benign Het
Noxo1 A G 17: 24,915,545 (GRCm39) probably benign Het
Optn C A 2: 5,026,134 (GRCm39) probably null Het
Or10ag58 A T 2: 87,265,733 (GRCm39) K301* probably null Het
Or4c103 A G 2: 88,513,935 (GRCm39) I47T probably damaging Het
Or5k17 A T 16: 58,746,895 (GRCm39) I13N possibly damaging Het
Or6c215 G A 10: 129,637,689 (GRCm39) A235V probably damaging Het
Or6c215 C A 10: 129,637,690 (GRCm39) A235S probably damaging Het
Pclo A G 5: 14,727,033 (GRCm39) probably benign Het
Ppp1r16b A G 2: 158,593,047 (GRCm39) I209V probably benign Het
Prss12 A G 3: 123,283,258 (GRCm39) I517V possibly damaging Het
Pwwp3a A G 10: 80,064,865 (GRCm39) K32E probably benign Het
Ripor2 C T 13: 24,798,627 (GRCm39) probably benign Het
Rmnd5b A G 11: 51,516,536 (GRCm39) S274P probably benign Het
Sftpa1 T A 14: 40,854,509 (GRCm39) I32N probably damaging Het
Sorcs1 T C 19: 50,276,532 (GRCm39) D340G probably damaging Het
Synj1 T C 16: 90,735,877 (GRCm39) K1359E probably benign Het
Tasor2 C T 13: 3,631,891 (GRCm39) R870H possibly damaging Het
Tcf12 T A 9: 71,775,547 (GRCm39) E421V probably damaging Het
Tecta A T 9: 42,284,371 (GRCm39) F905I probably benign Het
Tmem106a T A 11: 101,474,576 (GRCm39) C58* probably null Het
Tmem131l A T 3: 83,805,689 (GRCm39) F1585I probably damaging Het
Tnks2 T C 19: 36,856,752 (GRCm39) S208P possibly damaging Het
Trim50 A G 5: 135,382,274 (GRCm39) N42S probably benign Het
Tsc22d2 T A 3: 58,367,674 (GRCm39) probably benign Het
Ttll3 T A 6: 113,371,702 (GRCm39) L23H probably damaging Het
Vmn1r10 A G 6: 57,091,218 (GRCm39) Y270C probably benign Het
Ypel3 T C 7: 126,377,537 (GRCm39) V74A possibly damaging Het
Zfp677 A G 17: 21,618,070 (GRCm39) T376A 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
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
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'- CGCATCAACTGTCTTGAAGTC -3'
(R):5'- GAAGGTCATCTCCCCTTTCG -3'

Sequencing Primer
(F):5'- CATCAACTGTCTTGAAGTCTGTTGGC -3'
(R):5'- TTCCCCATGGGCATAAACGAG -3'
Posted On 2017-08-16