Incidental Mutation 'IGL02056:Slc2a3'
ID185242
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc2a3
Ensembl Gene ENSMUSG00000003153
Gene Namesolute carrier family 2 (facilitated glucose transporter), member 3
SynonymsGlut-3, Glut3
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02056
Quality Score
Status
Chromosome6
Chromosomal Location122727809-122801640 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 122735478 bp
ZygosityHeterozygous
Amino Acid Change Proline to Leucine at position 269 (P269L)
Ref Sequence ENSEMBL: ENSMUSP00000032476 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032476] [ENSMUST00000165884] [ENSMUST00000166135] [ENSMUST00000168801] [ENSMUST00000170724] [ENSMUST00000171541]
Predicted Effect probably damaging
Transcript: ENSMUST00000032476
AA Change: P269L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000032476
Gene: ENSMUSG00000003153
AA Change: P269L

DomainStartEndE-ValueType
Pfam:Sugar_tr 13 465 5.9e-165 PFAM
Pfam:MFS_1 16 385 7.1e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165884
SMART Domains Protein: ENSMUSP00000129925
Gene: ENSMUSG00000003153

DomainStartEndE-ValueType
Pfam:MFS_1 13 163 3.6e-12 PFAM
Pfam:Sugar_tr 15 163 6.9e-49 PFAM
Pfam:MFS_2 43 148 1.8e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166135
SMART Domains Protein: ENSMUSP00000132586
Gene: ENSMUSG00000003153

DomainStartEndE-ValueType
Pfam:Sugar_tr 13 63 9.8e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168704
Predicted Effect probably benign
Transcript: ENSMUST00000168801
SMART Domains Protein: ENSMUSP00000129604
Gene: ENSMUSG00000003153

DomainStartEndE-ValueType
Pfam:Sugar_tr 13 70 1.8e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169979
Predicted Effect probably benign
Transcript: ENSMUST00000170724
SMART Domains Protein: ENSMUSP00000128076
Gene: ENSMUSG00000003153

DomainStartEndE-ValueType
Pfam:Sugar_tr 13 89 5.5e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171541
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mutations cause embryonic lethality. Heterozygotes for a null allele show partial perinatal lethality and impaired placental transport. Heterozygotes for a gene trap allele show abnormal brain wave patterns, increased startle reflex, reduced prepulse inhibition and increased anxiety. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310050C09Rik T A 3: 92,868,893 Q161L probably benign Het
Atg101 T C 15: 101,290,337 S108P probably damaging Het
BB014433 A T 8: 15,042,435 C139* probably null Het
Cacna1s A G 1: 136,119,000 N1808S probably benign Het
Ccdc148 A G 2: 59,004,069 probably benign Het
Dnah7a T G 1: 53,504,342 N2223T probably benign Het
Fgl2 T A 5: 21,375,545 I295K probably damaging Het
Foxj3 T C 4: 119,585,757 I126T probably damaging Het
Gm4540 T A 3: 106,034,740 probably benign Het
Hps5 T G 7: 46,788,182 K156N probably damaging Het
Hsp90aa1 T C 12: 110,694,015 probably benign Het
Il12rb1 C T 8: 70,811,187 R131* probably null Het
Itgb2l T C 16: 96,427,689 E438G probably damaging Het
Nbeal2 A T 9: 110,627,324 L2379Q probably benign Het
Neurl4 T C 11: 69,905,790 V481A probably damaging Het
Nos1ap A G 1: 170,318,623 F454S possibly damaging Het
Pik3r5 G T 11: 68,490,855 G242C possibly damaging Het
Pkd1l3 A G 8: 109,631,378 N834S probably benign Het
Prkar2b A G 12: 31,975,910 probably benign Het
Pusl1 T C 4: 155,890,572 T191A probably benign Het
Rasal2 A G 1: 157,299,261 V51A probably damaging Het
Rsc1a1 T A 4: 141,685,485 I39F probably benign Het
Sntb1 C T 15: 55,648,039 G383D possibly damaging Het
Washc5 T C 15: 59,350,336 T547A possibly damaging Het
Zfr T C 15: 12,154,447 V572A probably damaging Het
Zmym6 T A 4: 127,103,414 N275K probably damaging Het
Other mutations in Slc2a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01661:Slc2a3 APN 6 122729956 missense probably benign
IGL02267:Slc2a3 APN 6 122739972 missense probably benign 0.00
IGL02873:Slc2a3 APN 6 122740414 missense probably damaging 0.98
IGL03275:Slc2a3 APN 6 122736742 critical splice acceptor site probably null
R1014:Slc2a3 UTSW 6 122731566 missense possibly damaging 0.77
R1464:Slc2a3 UTSW 6 122737310 splice site probably benign
R1920:Slc2a3 UTSW 6 122736741 missense probably damaging 0.99
R1990:Slc2a3 UTSW 6 122736735 missense probably damaging 1.00
R3809:Slc2a3 UTSW 6 122732429 missense probably benign 0.03
R4094:Slc2a3 UTSW 6 122735568 missense probably benign 0.23
R4537:Slc2a3 UTSW 6 122737104 missense probably damaging 1.00
R5093:Slc2a3 UTSW 6 122737237 missense probably damaging 0.99
R5186:Slc2a3 UTSW 6 122735583 missense probably damaging 1.00
R5784:Slc2a3 UTSW 6 122735417 splice site probably null
Posted On2014-05-07