Incidental Mutation 'IGL03307:Slc2a13'
ID416415
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc2a13
Ensembl Gene ENSMUSG00000036298
Gene Namesolute carrier family 2 (facilitated glucose transporter), member 13
SynonymsA630029G22Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03307
Quality Score
Status
Chromosome15
Chromosomal Location91267696-91573261 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 91276114 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 546 (V546M)
Ref Sequence ENSEMBL: ENSMUSP00000104906 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109283]
Predicted Effect probably damaging
Transcript: ENSMUST00000109283
AA Change: V546M

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104906
Gene: ENSMUSG00000036298
AA Change: V546M

DomainStartEndE-ValueType
low complexity region 36 54 N/A INTRINSIC
Pfam:Sugar_tr 73 412 2e-87 PFAM
Pfam:MFS_1 77 411 6.6e-23 PFAM
Pfam:Sugar_tr 487 598 8.1e-28 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck1 T C 12: 88,459,053 I417T possibly damaging Het
Arrdc1 A T 2: 24,926,342 I205N probably damaging Het
Atp6v1a A G 16: 44,111,559 V122A possibly damaging Het
Atp8a2 A G 14: 60,015,872 probably null Het
Cdh18 A G 15: 23,226,786 H111R probably damaging Het
Cpsf3 T A 12: 21,296,714 I196N possibly damaging Het
Cyp2b9 C T 7: 26,199,051 S277L probably benign Het
Grik3 T C 4: 125,641,554 M248T possibly damaging Het
Gusb T C 5: 130,000,031 *145W probably null Het
Il18rap T C 1: 40,543,067 Y383H probably benign Het
Lama4 T C 10: 39,017,383 V162A probably benign Het
Macc1 A T 12: 119,446,420 M308L probably benign Het
Olfr591 C T 7: 103,173,416 V74I probably benign Het
Olfr944 A T 9: 39,218,013 I219F probably benign Het
Postn A G 3: 54,375,127 D503G probably benign Het
Robo3 A T 9: 37,422,564 V658D probably damaging Het
Scrn1 G A 6: 54,548,337 R16* probably null Het
Setd1b C A 5: 123,148,671 D593E unknown Het
Spock1 T C 13: 57,429,347 D423G probably null Het
Stox2 T C 8: 47,194,030 T132A probably damaging Het
Tcrg-C1 A G 13: 19,214,358 probably benign Het
Tle2 T C 10: 81,590,240 S703P probably damaging Het
Ttc41 T C 10: 86,744,440 I750T possibly damaging Het
Vmn2r107 A T 17: 20,356,776 K345N probably benign Het
Vmn2r60 T C 7: 42,116,547 V26A probably benign Het
Vmn2r98 G A 17: 19,065,980 V247I possibly damaging Het
Zan A G 5: 137,474,025 V153A probably damaging Het
Other mutations in Slc2a13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00899:Slc2a13 APN 15 91497399 missense probably benign
IGL01295:Slc2a13 APN 15 91350132 critical splice acceptor site probably null
IGL01863:Slc2a13 APN 15 91516492 missense probably benign 0.00
IGL02149:Slc2a13 APN 15 91343721 missense probably benign
IGL02670:Slc2a13 APN 15 91497509 missense probably damaging 0.99
IGL02692:Slc2a13 APN 15 91321658 missense probably benign 0.23
R0394:Slc2a13 UTSW 15 91516392 missense probably damaging 1.00
R0624:Slc2a13 UTSW 15 91350012 missense possibly damaging 0.89
R0698:Slc2a13 UTSW 15 91321667 missense probably benign
R0702:Slc2a13 UTSW 15 91321667 missense probably benign
R1052:Slc2a13 UTSW 15 91412160 missense probably damaging 0.96
R2090:Slc2a13 UTSW 15 91516492 missense probably benign 0.00
R2118:Slc2a13 UTSW 15 91516476 missense probably damaging 0.99
R4445:Slc2a13 UTSW 15 91350020 missense possibly damaging 0.46
R4896:Slc2a13 UTSW 15 91412212 missense probably benign 0.20
R6028:Slc2a13 UTSW 15 91276116 missense probably damaging 1.00
R6414:Slc2a13 UTSW 15 91343805 missense probably benign 0.00
R6836:Slc2a13 UTSW 15 91321632 missense probably benign 0.00
R6928:Slc2a13 UTSW 15 91276179 missense probably damaging 1.00
R7353:Slc2a13 UTSW 15 91321604 missense probably benign
R7423:Slc2a13 UTSW 15 91572680 missense probably damaging 1.00
R7458:Slc2a13 UTSW 15 91412187 missense probably benign 0.04
R7641:Slc2a13 UTSW 15 91272156 makesense probably null
R7993:Slc2a13 UTSW 15 91412153 nonsense probably null
R8057:Slc2a13 UTSW 15 91516416 missense probably damaging 0.99
R8164:Slc2a13 UTSW 15 91276078 missense probably damaging 0.96
Posted On2016-08-02