Incidental Mutation 'IGL00946:Gfpt1'
ID27652
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gfpt1
Ensembl Gene ENSMUSG00000029992
Gene Nameglutamine fructose-6-phosphate transaminase 1
SynonymsGFA, 2810423A18Rik, GFAT, GFAT1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00946
Quality Score
Status
Chromosome6
Chromosomal Location87042846-87092197 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 87050942 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 10 (Y10C)
Ref Sequence ENSEMBL: ENSMUSP00000109288 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032057] [ENSMUST00000113655] [ENSMUST00000113657] [ENSMUST00000113658]
Predicted Effect probably damaging
Transcript: ENSMUST00000032057
AA Change: Y10C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000032057
Gene: ENSMUSG00000029992
AA Change: Y10C

DomainStartEndE-ValueType
low complexity region 56 67 N/A INTRINSIC
Pfam:GATase_6 69 213 1e-18 PFAM
Pfam:GATase_4 78 198 2.7e-7 PFAM
Pfam:GATase_7 93 195 2.1e-14 PFAM
Pfam:SIS 378 507 4.5e-38 PFAM
Pfam:SIS 549 680 1.6e-33 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000113655
AA Change: Y10C
SMART Domains Protein: ENSMUSP00000109285
Gene: ENSMUSG00000029992
AA Change: Y10C

DomainStartEndE-ValueType
Pfam:GATase_2 2 65 7.8e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113657
AA Change: Y10C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109287
Gene: ENSMUSG00000029992
AA Change: Y10C

DomainStartEndE-ValueType
Pfam:GATase_2 2 80 1.7e-10 PFAM
Pfam:GATase_2 76 120 9.5e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113658
AA Change: Y10C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109288
Gene: ENSMUSG00000029992
AA Change: Y10C

DomainStartEndE-ValueType
Pfam:GATase_2 2 78 9e-9 PFAM
Pfam:GATase_4 63 191 3.2e-10 PFAM
Pfam:GATase_6 68 211 3.7e-20 PFAM
Pfam:GATase_2 76 220 6.4e-22 PFAM
Pfam:GATase_7 93 194 1.7e-15 PFAM
Pfam:SIS 362 491 4.5e-36 PFAM
Pfam:SIS 533 664 2.3e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150410
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the first and rate-limiting enzyme of the hexosamine pathway and controls the flux of glucose into the hexosamine pathway. The product of this gene catalyzes the formation of glucosamine 6-phosphate. [provided by RefSeq, Sep 2008]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahdc1 T C 4: 133,063,062 I538T probably benign Het
Bmp10 A T 6: 87,434,362 Q379L probably damaging Het
Cacna2d4 G A 6: 119,271,915 A446T possibly damaging Het
Chrdl1 G A X: 143,294,168 probably benign Het
Crtc2 A G 3: 90,260,805 H370R probably damaging Het
Cubn T C 2: 13,456,623 T698A probably damaging Het
Deup1 T C 9: 15,561,238 T593A possibly damaging Het
Dus1l T C 11: 120,793,875 T157A probably damaging Het
Efcab6 T C 15: 84,018,696 N151S probably benign Het
Eif2b5 T A 16: 20,505,252 H448Q probably benign Het
Epha8 T C 4: 136,945,810 D221G probably damaging Het
Eprs G A 1: 185,407,701 G996S probably benign Het
Fn1 G A 1: 71,645,540 probably benign Het
Ghitm C T 14: 37,125,246 M290I probably benign Het
Gpd2 T C 2: 57,268,084 probably null Het
Htr2a T A 14: 74,706,142 Y387* probably null Het
Lrrc7 T A 3: 158,161,356 Q916L probably benign Het
Mfsd9 A C 1: 40,773,780 D458E probably benign Het
Nmb T C 7: 80,902,460 I123M probably benign Het
Nrap A T 19: 56,340,626 probably null Het
Olfr1299 T A 2: 111,665,144 M306K probably benign Het
Olfr1406 A T 1: 173,183,623 D270E probably benign Het
Olfr984 A G 9: 40,101,154 I112T probably benign Het
Pola1 T C X: 93,480,539 I1165M probably benign Het
Sdk1 G T 5: 142,084,613 probably null Het
Selenon T A 4: 134,539,726 probably benign Het
Stk39 T A 2: 68,314,564 T389S possibly damaging Het
Tmx3 A G 18: 90,540,054 E410G possibly damaging Het
Utp20 A T 10: 88,748,315 V2660E possibly damaging Het
Vps52 T C 17: 33,956,958 L40P possibly damaging Het
Wdr25 C T 12: 109,025,027 S380F possibly damaging Het
Xpo7 T C 14: 70,671,658 T808A probably benign Het
Zc3h14 T C 12: 98,759,883 probably benign Het
Other mutations in Gfpt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00857:Gfpt1 APN 6 87056163 missense probably damaging 1.00
IGL01083:Gfpt1 APN 6 87054696 missense probably damaging 1.00
IGL01930:Gfpt1 APN 6 87059415 missense possibly damaging 0.88
IGL02113:Gfpt1 APN 6 87087367 missense probably benign 0.04
IGL02724:Gfpt1 APN 6 87056182 nonsense probably null
IGL03024:Gfpt1 APN 6 87053831 missense probably damaging 1.00
R0829:Gfpt1 UTSW 6 87053865 splice site probably benign
R1779:Gfpt1 UTSW 6 87077197 missense possibly damaging 0.74
R1982:Gfpt1 UTSW 6 87054630 missense possibly damaging 0.90
R2067:Gfpt1 UTSW 6 87057754 missense probably benign 0.02
R2400:Gfpt1 UTSW 6 87087348 missense probably damaging 1.00
R2438:Gfpt1 UTSW 6 87057745 missense probably null 1.00
R3104:Gfpt1 UTSW 6 87057646 missense probably benign 0.16
R3105:Gfpt1 UTSW 6 87057646 missense probably benign 0.16
R4738:Gfpt1 UTSW 6 87054747 intron probably benign
R5070:Gfpt1 UTSW 6 87053745 splice site probably null
R5292:Gfpt1 UTSW 6 87076255 critical splice acceptor site probably null
R5392:Gfpt1 UTSW 6 87077157 missense probably damaging 0.99
R5481:Gfpt1 UTSW 6 87050969 missense probably damaging 1.00
R5646:Gfpt1 UTSW 6 87042999 start codon destroyed probably null 0.92
R5666:Gfpt1 UTSW 6 87053813 missense possibly damaging 0.94
R6003:Gfpt1 UTSW 6 87088248 unclassified probably null
R6031:Gfpt1 UTSW 6 87086320 missense probably damaging 1.00
R6031:Gfpt1 UTSW 6 87086320 missense probably damaging 1.00
R6045:Gfpt1 UTSW 6 87085257 missense probably damaging 1.00
R6341:Gfpt1 UTSW 6 87088145 missense probably damaging 1.00
R6980:Gfpt1 UTSW 6 87077089 missense probably damaging 1.00
R7120:Gfpt1 UTSW 6 87087393 missense probably benign 0.25
R7123:Gfpt1 UTSW 6 87056186 missense probably damaging 1.00
R7249:Gfpt1 UTSW 6 87056144 missense probably damaging 0.98
R7374:Gfpt1 UTSW 6 87050977 missense probably benign 0.00
R7501:Gfpt1 UTSW 6 87082526 missense probably benign
R7502:Gfpt1 UTSW 6 87066689 missense probably benign 0.00
Posted On2013-04-17