Incidental Mutation 'IGL01392:Slc2a12'
ID79245
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 #IGL01392
Quality Score
Status
Chromosome10
Chromosomal Location22645011-22704285 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 22664684 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 146 (V146A)
Ref Sequence ENSEMBL: ENSMUSP00000043962 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042261]
Predicted Effect probably damaging
Transcript: ENSMUST00000042261
AA Change: V146A

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000043962
Gene: ENSMUSG00000037490
AA Change: V146A

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1 A G 2: 58,500,546 V2A probably benign Het
Adgrf5 A T 17: 43,450,012 Q866L probably benign Het
Ankrd13a A G 5: 114,797,853 E295G probably benign Het
Arid1a T C 4: 133,681,037 D2053G unknown Het
Calr4 A G 4: 109,253,874 E272G probably benign Het
Cmya5 T C 13: 93,089,206 S3125G probably damaging Het
Dnah7b T C 1: 46,126,788 Y538H probably damaging Het
Eri3 T C 4: 117,589,159 probably null Het
Fmo6 T A 1: 162,930,011 R63* probably null Het
Gm7168 G A 17: 13,948,907 D179N probably benign Het
Gm8979 T C 7: 106,083,755 I98V probably benign Het
Got1l1 T C 8: 27,197,991 T337A probably damaging Het
Igf2r A G 17: 12,704,349 M1191T probably benign Het
Ighv1-54 A G 12: 115,193,937 L30P probably damaging Het
Igkv8-30 A G 6: 70,117,347 S27P probably benign Het
Kcnab2 A T 4: 152,393,797 V335E possibly damaging Het
Klf12 A T 14: 100,149,757 I3N probably damaging Het
Megf8 T C 7: 25,363,749 V2510A probably benign Het
Mme A G 3: 63,362,046 D592G probably damaging Het
Myh1 A G 11: 67,221,301 N1727S probably benign Het
Ncor1 A G 11: 62,340,594 S796P probably damaging Het
Nlrp14 A G 7: 107,197,913 probably benign Het
Olfr1443 T A 19: 12,680,803 Y232N probably benign Het
Olfr508 C T 7: 108,630,678 R229C probably benign Het
Olfr564 T A 7: 102,803,854 Y125* probably null Het
Plekhm2 A G 4: 141,642,426 V86A probably damaging Het
Popdc2 G T 16: 38,374,131 V305L probably benign Het
Prpmp5 T C 6: 132,312,420 N147S unknown Het
Rttn C T 18: 88,995,613 H469Y probably benign Het
Sptlc3 A G 2: 139,546,421 E111G possibly damaging Het
Zfp108 T C 7: 24,258,447 probably benign Het
Zfp719 T A 7: 43,591,130 F714Y probably damaging Het
Other mutations in Slc2a12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02472:Slc2a12 APN 10 22665155 missense probably damaging 1.00
IGL03387:Slc2a12 APN 10 22665235 missense probably damaging 1.00
IGL03412:Slc2a12 APN 10 22664969 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
R7592:Slc2a12 UTSW 10 22664903 missense probably damaging 1.00
R7641:Slc2a12 UTSW 10 22693994 missense probably damaging 0.98
R7674:Slc2a12 UTSW 10 22693994 missense probably damaging 0.98
R7736:Slc2a12 UTSW 10 22664818 missense probably damaging 1.00
R7822:Slc2a12 UTSW 10 22664669 missense probably damaging 1.00
Posted On2013-11-05