Incidental Mutation 'IGL03412:Slc2a12'
ID421844
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc2a12
Ensembl Gene ENSMUSG00000037490
Gene Namesolute carrier family 2 (facilitated glucose transporter), member 12
SynonymsGlut12, GLUT-12
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03412
Quality Score
Status
Chromosome10
Chromosomal Location22645011-22704285 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 22664969 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 241 (L241P)
Ref Sequence ENSEMBL: ENSMUSP00000043962 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042261]
Predicted Effect probably damaging
Transcript: ENSMUST00000042261
AA Change: L241P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043962
Gene: ENSMUSG00000037490
AA Change: L241P

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b A T 12: 113,491,770 R736* probably null Het
Agpat2 T C 2: 26,593,661 T255A probably benign Het
Akap3 G A 6: 126,864,725 M102I probably benign Het
Cd300lb C A 11: 114,928,380 R5M probably damaging Het
Chrna5 A T 9: 55,004,435 D69V probably damaging Het
Col9a1 G A 1: 24,210,427 probably null Het
Dnajb12 A T 10: 59,890,073 H60L probably benign Het
Dnal1 T A 12: 84,135,667 M1K probably null Het
Exoc7 C T 11: 116,289,275 V655M possibly damaging Het
Fastkd3 A G 13: 68,583,721 R54G probably benign Het
Fbln2 G A 6: 91,271,781 D1143N probably damaging Het
Flii C T 11: 60,722,640 V174M probably damaging Het
Gtf2h4 T C 17: 35,668,483 I388M probably damaging Het
Il20rb A G 9: 100,474,996 V27A probably benign Het
Kidins220 T C 12: 24,999,345 S320P probably damaging Het
Kif1b T C 4: 149,274,939 S114G probably benign Het
Lama3 T C 18: 12,419,182 V397A probably damaging Het
Man2a2 A T 7: 80,366,998 V356D probably damaging Het
Mcpt9 T G 14: 56,028,027 T72P probably damaging Het
Mmd T C 11: 90,257,603 probably null Het
Mroh2b G A 15: 4,944,372 R1124Q probably benign Het
Mvp T C 7: 126,993,563 D392G probably damaging Het
Mycbpap T A 11: 94,508,101 probably null Het
Myh2 A G 11: 67,189,569 H1203R probably benign Het
Nbeal1 T A 1: 60,242,567 C816* probably null Het
Olfr1242 T A 2: 89,494,211 I34F probably benign Het
Olfr1440 A T 19: 12,394,379 T39S probably damaging Het
Pcdh12 C T 18: 38,283,515 V186M probably benign Het
Pik3c2a C T 7: 116,417,839 E228K probably benign Het
Plcz1 A C 6: 140,016,097 Y243D probably damaging Het
Rspo3 T A 10: 29,535,274 I19F possibly damaging Het
Slc4a10 G A 2: 62,250,543 probably benign Het
Snai2 A T 16: 14,707,256 T209S possibly damaging Het
Sorcs2 T C 5: 36,046,504 D549G probably damaging Het
Srsf12 G A 4: 33,230,929 R141Q probably damaging Het
Stab1 T G 14: 31,154,407 E908D probably benign Het
Stat6 A T 10: 127,658,205 M634L probably benign Het
Tex21 A G 12: 76,245,006 probably null Het
Tsc2 C A 17: 24,597,068 R1715L probably damaging Het
Ttll4 A G 1: 74,687,321 I693V probably benign Het
Vmn1r5 A T 6: 56,985,933 M198L possibly damaging Het
Vmn1r50 T C 6: 90,108,025 Y251H probably damaging Het
Vmn2r59 A G 7: 42,012,438 I651T probably benign Het
Wdr3 G T 3: 100,151,977 T342K probably benign Het
Zbtb44 A G 9: 31,053,467 T58A probably benign Het
Zeb2 A G 2: 45,002,708 probably benign Het
Zmym2 C T 14: 56,959,719 Q1315* probably null Het
Zmym6 T C 4: 127,092,938 I137T probably damaging Het
Other mutations in Slc2a12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01392:Slc2a12 APN 10 22664684 missense probably damaging 0.97
IGL02472:Slc2a12 APN 10 22665155 missense probably damaging 1.00
IGL03387:Slc2a12 APN 10 22665235 missense probably damaging 1.00
R0537:Slc2a12 UTSW 10 22665068 missense probably damaging 1.00
R0539:Slc2a12 UTSW 10 22692230 missense probably benign 0.04
R0744:Slc2a12 UTSW 10 22702016 unclassified probably benign
R0833:Slc2a12 UTSW 10 22702016 unclassified probably benign
R1056:Slc2a12 UTSW 10 22665451 missense probably benign 0.05
R1926:Slc2a12 UTSW 10 22665242 missense probably damaging 1.00
R2188:Slc2a12 UTSW 10 22664837 missense probably benign 0.01
R2471:Slc2a12 UTSW 10 22664807 missense probably damaging 1.00
R4212:Slc2a12 UTSW 10 22702094 missense probably benign 0.02
R4213:Slc2a12 UTSW 10 22702094 missense probably benign 0.02
R4543:Slc2a12 UTSW 10 22664786 missense probably damaging 1.00
R5203:Slc2a12 UTSW 10 22645314 critical splice donor site probably null
R5203:Slc2a12 UTSW 10 22692218 missense probably benign
R5223:Slc2a12 UTSW 10 22702032 missense probably damaging 0.99
R5500:Slc2a12 UTSW 10 22665137 missense probably damaging 1.00
R6119:Slc2a12 UTSW 10 22665347 missense probably damaging 1.00
R6149:Slc2a12 UTSW 10 22664502 missense probably benign 0.05
R6281:Slc2a12 UTSW 10 22665320 missense probably damaging 1.00
R6330:Slc2a12 UTSW 10 22664995 missense probably benign 0.00
R6385:Slc2a12 UTSW 10 22694030 missense possibly damaging 0.69
R6623:Slc2a12 UTSW 10 22664900 missense probably damaging 1.00
R6895:Slc2a12 UTSW 10 22692185 missense probably damaging 1.00
R7080:Slc2a12 UTSW 10 22665317 missense probably benign 0.34
R7152:Slc2a12 UTSW 10 22665554 missense probably benign 0.00
Posted On2016-08-02