Incidental Mutation 'IGL00934:Gfpt2'
ID28540
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gfpt2
Ensembl Gene ENSMUSG00000020363
Gene Nameglutamine fructose-6-phosphate transaminase 2
SynonymsGFAT2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00934
Quality Score
Status
Chromosome11
Chromosomal Location49794178-49838613 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 49809123 bp
ZygosityHeterozygous
Amino Acid Change Valine to Phenylalanine at position 102 (V102F)
Ref Sequence ENSEMBL: ENSMUSP00000020629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020629]
Predicted Effect probably benign
Transcript: ENSMUST00000020629
AA Change: V102F

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000020629
Gene: ENSMUSG00000020363
AA Change: V102F

DomainStartEndE-ValueType
Pfam:GATase_6 72 212 1e-19 PFAM
Pfam:GATase_4 75 206 1.6e-7 PFAM
Pfam:GATase_7 90 209 8.2e-16 PFAM
Pfam:SIS 363 492 1.7e-38 PFAM
Pfam:SIS 534 665 1.2e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130129
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acrv1 T A 9: 36,694,392 H78Q possibly damaging Het
Camk2g C T 14: 20,737,330 G500S probably damaging Het
Ccr1 A G 9: 123,963,740 L251P probably damaging Het
Dgkb G A 12: 38,427,456 A622T probably damaging Het
Fat4 C A 3: 38,890,673 D1238E probably damaging Het
Gm5538 A T 3: 59,752,053 Y309F probably benign Het
Kif2a A C 13: 106,968,793 probably benign Het
Klk1b9 T C 7: 43,978,454 W59R probably damaging Het
Lonp1 T C 17: 56,614,683 T875A probably benign Het
Mical2 A G 7: 112,349,403 Y802C probably damaging Het
Neurl1b C A 17: 26,432,178 D141E probably damaging Het
Olfr453 A T 6: 42,744,691 Y218F probably damaging Het
Olfr64 G T 7: 103,892,864 Y290* probably null Het
Pcdhga3 A G 18: 37,675,433 E313G possibly damaging Het
Usp32 A T 11: 85,007,076 D1146E probably damaging Het
Other mutations in Gfpt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01451:Gfpt2 APN 11 49807690 splice site probably benign
IGL01490:Gfpt2 APN 11 49827127 splice site probably benign
IGL01550:Gfpt2 APN 11 49824323 splice site probably null
IGL01552:Gfpt2 APN 11 49805005 nonsense probably null
IGL02349:Gfpt2 APN 11 49807703 missense probably benign 0.02
IGL02815:Gfpt2 APN 11 49823257 missense possibly damaging 0.89
plethora UTSW 11 49824441 missense probably damaging 1.00
R0525:Gfpt2 UTSW 11 49829775 missense probably benign 0.06
R0539:Gfpt2 UTSW 11 49832898 missense probably damaging 1.00
R1055:Gfpt2 UTSW 11 49827211 missense probably damaging 1.00
R1178:Gfpt2 UTSW 11 49823309 missense probably benign 0.42
R1340:Gfpt2 UTSW 11 49832861 missense probably damaging 1.00
R2372:Gfpt2 UTSW 11 49807715 missense probably benign 0.00
R4154:Gfpt2 UTSW 11 49835778 splice site probably null
R4476:Gfpt2 UTSW 11 49824342 missense probably benign 0.17
R4679:Gfpt2 UTSW 11 49823737 missense probably benign 0.00
R4863:Gfpt2 UTSW 11 49810970 missense probably benign 0.06
R5113:Gfpt2 UTSW 11 49823799 missense probably damaging 1.00
R5509:Gfpt2 UTSW 11 49827146 missense possibly damaging 0.75
R5830:Gfpt2 UTSW 11 49809061 missense probably benign 0.03
R6435:Gfpt2 UTSW 11 49835651 missense probably benign 0.00
R7079:Gfpt2 UTSW 11 49837751 missense possibly damaging 0.77
R7135:Gfpt2 UTSW 11 49804955 missense probably damaging 1.00
R7261:Gfpt2 UTSW 11 49823251 missense possibly damaging 0.77
R7294:Gfpt2 UTSW 11 49818608 nonsense probably null
R7384:Gfpt2 UTSW 11 49810990 missense possibly damaging 0.56
R7778:Gfpt2 UTSW 11 49824441 missense probably damaging 1.00
R7806:Gfpt2 UTSW 11 49823315 missense probably benign
R7824:Gfpt2 UTSW 11 49824441 missense probably damaging 1.00
R8245:Gfpt2 UTSW 11 49823958 missense probably benign 0.01
R8262:Gfpt2 UTSW 11 49823780 missense probably benign 0.02
Posted On2013-04-17