Incidental Mutation 'R6003:Gfpt1'
ID 482043
Institutional Source Beutler Lab
Gene Symbol Gfpt1
Ensembl Gene ENSMUSG00000029992
Gene Name glutamine fructose-6-phosphate transaminase 1
Synonyms 2810423A18Rik, GFAT1, GFA, GFAT
MMRRC Submission 043252-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6003 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 87019828-87069179 bp(+) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) T to A at 87065230 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000032057 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032057] [ENSMUST00000113658]
AlphaFold P47856
Predicted Effect probably null
Transcript: ENSMUST00000032057
SMART Domains Protein: ENSMUSP00000032057
Gene: ENSMUSG00000029992

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 probably benign
Transcript: ENSMUST00000113658
SMART Domains Protein: ENSMUSP00000109288
Gene: ENSMUSG00000029992

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: ENSMUST00000146410
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.2%
  • 20x: 90.9%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4galt T C 15: 83,112,312 (GRCm39) E157G probably benign Het
Abcb11 T C 2: 69,073,811 (GRCm39) K1238R probably benign Het
Ankar T A 1: 72,738,046 (GRCm39) E45D probably damaging Het
Antxrl G T 14: 33,797,592 (GRCm39) K522N possibly damaging Het
Ap1m1 A G 8: 73,003,011 (GRCm39) Y93C probably damaging Het
As3mt C T 19: 46,696,567 (GRCm39) T35M possibly damaging Het
Aspg T C 12: 112,079,476 (GRCm39) S85P probably damaging Het
Cachd1 T C 4: 100,809,216 (GRCm39) S234P possibly damaging Het
Ccdc3 T C 2: 5,146,218 (GRCm39) probably null Het
Cnpy1 T C 5: 28,450,759 (GRCm39) T16A probably benign Het
Cope T C 8: 70,757,285 (GRCm39) L43P probably benign Het
E2f8 T C 7: 48,520,525 (GRCm39) M599V probably benign Het
Eif3a A T 19: 60,755,319 (GRCm39) D954E unknown Het
Ggps1 T G 13: 14,228,587 (GRCm39) S145R probably benign Het
Gon4l A G 3: 88,803,400 (GRCm39) D1337G probably damaging Het
Gtf2a1l G T 17: 89,001,531 (GRCm39) G82V probably damaging Het
Gucy1b1 C A 3: 81,965,584 (GRCm39) L87F probably damaging Het
Hoxc9 T C 15: 102,890,311 (GRCm39) V76A probably benign Het
Ints2 T C 11: 86,129,294 (GRCm39) E460G probably damaging Het
Kdm4b C T 17: 56,703,916 (GRCm39) R756W probably damaging Het
Lax1 T A 1: 133,611,834 (GRCm39) I34F probably benign Het
Marveld3 A T 8: 110,680,960 (GRCm39) C312S probably damaging Het
Ncoa2 T C 1: 13,237,254 (GRCm39) D824G possibly damaging Het
Nrxn2 C A 19: 6,548,358 (GRCm39) A17D possibly damaging Het
Nup133 A T 8: 124,665,031 (GRCm39) I220N probably damaging Het
Nup205 T C 6: 35,189,751 (GRCm39) V984A probably benign Het
Nup54 A T 5: 92,570,853 (GRCm39) D318E probably damaging Het
Obp2a A T 2: 25,591,151 (GRCm39) K94N probably damaging Het
Or2ak5 A T 11: 58,611,196 (GRCm39) I226N probably benign Het
Or5b3 T C 19: 13,388,403 (GRCm39) S157P probably benign Het
Pappa2 T C 1: 158,763,820 (GRCm39) I564V probably benign Het
Parpbp A G 10: 87,969,020 (GRCm39) V142A possibly damaging Het
Rdh16f2 A T 10: 127,712,201 (GRCm39) R219S probably benign Het
Rfx6 C T 10: 51,584,683 (GRCm39) R228C probably damaging Het
Rpap2 A G 5: 107,749,767 (GRCm39) probably null Het
Rskr T G 11: 78,183,846 (GRCm39) probably null Het
Slc15a2 T C 16: 36,574,910 (GRCm39) I531V probably benign Het
Srebf1 T C 11: 60,097,930 (GRCm39) E58G possibly damaging Het
Tmem214 C A 5: 31,028,068 (GRCm39) T96K possibly damaging Het
Usp19 T C 9: 108,373,579 (GRCm39) Y691H probably damaging Het
Vmn1r86 C T 7: 12,836,125 (GRCm39) W200* probably null Het
Vmn2r8 A T 5: 108,945,248 (GRCm39) S786R probably damaging Het
Vps52 T A 17: 34,175,068 (GRCm39) M1K probably null Het
Zzef1 T A 11: 72,714,891 (GRCm39) probably null Het
Other mutations in Gfpt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00857:Gfpt1 APN 6 87,033,145 (GRCm39) missense probably damaging 1.00
IGL00946:Gfpt1 APN 6 87,027,924 (GRCm39) missense probably damaging 1.00
IGL01083:Gfpt1 APN 6 87,031,678 (GRCm39) missense probably damaging 1.00
IGL01930:Gfpt1 APN 6 87,036,397 (GRCm39) missense possibly damaging 0.88
IGL02113:Gfpt1 APN 6 87,064,349 (GRCm39) missense probably benign 0.04
IGL02724:Gfpt1 APN 6 87,033,164 (GRCm39) nonsense probably null
IGL03024:Gfpt1 APN 6 87,030,813 (GRCm39) missense probably damaging 1.00
Fatal_flaw UTSW 6 87,030,847 (GRCm39) splice site probably benign
vanity UTSW 6 87,030,787 (GRCm39) missense probably benign 0.10
R0829:Gfpt1 UTSW 6 87,030,847 (GRCm39) splice site probably benign
R1779:Gfpt1 UTSW 6 87,054,179 (GRCm39) missense possibly damaging 0.74
R1982:Gfpt1 UTSW 6 87,031,612 (GRCm39) missense possibly damaging 0.90
R2067:Gfpt1 UTSW 6 87,034,736 (GRCm39) missense probably benign 0.02
R2400:Gfpt1 UTSW 6 87,064,330 (GRCm39) missense probably damaging 1.00
R2438:Gfpt1 UTSW 6 87,034,727 (GRCm39) missense probably null 1.00
R3104:Gfpt1 UTSW 6 87,034,628 (GRCm39) missense probably benign 0.16
R3105:Gfpt1 UTSW 6 87,034,628 (GRCm39) missense probably benign 0.16
R4738:Gfpt1 UTSW 6 87,031,729 (GRCm39) intron probably benign
R5070:Gfpt1 UTSW 6 87,030,727 (GRCm39) splice site probably null
R5292:Gfpt1 UTSW 6 87,053,237 (GRCm39) critical splice acceptor site probably null
R5392:Gfpt1 UTSW 6 87,054,139 (GRCm39) missense probably damaging 0.99
R5481:Gfpt1 UTSW 6 87,027,951 (GRCm39) missense probably damaging 1.00
R5646:Gfpt1 UTSW 6 87,019,981 (GRCm39) start codon destroyed probably null 0.92
R5666:Gfpt1 UTSW 6 87,030,795 (GRCm39) missense possibly damaging 0.94
R6031:Gfpt1 UTSW 6 87,063,302 (GRCm39) missense probably damaging 1.00
R6031:Gfpt1 UTSW 6 87,063,302 (GRCm39) missense probably damaging 1.00
R6045:Gfpt1 UTSW 6 87,062,239 (GRCm39) missense probably damaging 1.00
R6341:Gfpt1 UTSW 6 87,065,127 (GRCm39) missense probably damaging 1.00
R6980:Gfpt1 UTSW 6 87,054,071 (GRCm39) missense probably damaging 1.00
R7120:Gfpt1 UTSW 6 87,064,375 (GRCm39) missense probably benign 0.25
R7123:Gfpt1 UTSW 6 87,033,168 (GRCm39) missense probably damaging 1.00
R7249:Gfpt1 UTSW 6 87,033,126 (GRCm39) missense probably damaging 0.98
R7374:Gfpt1 UTSW 6 87,027,959 (GRCm39) missense probably benign 0.00
R7501:Gfpt1 UTSW 6 87,059,508 (GRCm39) missense probably benign
R7502:Gfpt1 UTSW 6 87,043,671 (GRCm39) missense probably benign 0.00
R8244:Gfpt1 UTSW 6 87,040,613 (GRCm39) intron probably benign
R8528:Gfpt1 UTSW 6 87,043,770 (GRCm39) critical splice donor site probably null
R8864:Gfpt1 UTSW 6 87,031,605 (GRCm39) missense probably benign 0.01
R8910:Gfpt1 UTSW 6 87,030,787 (GRCm39) missense probably benign 0.10
R9123:Gfpt1 UTSW 6 87,053,248 (GRCm39) missense probably benign
R9125:Gfpt1 UTSW 6 87,053,248 (GRCm39) missense probably benign
R9227:Gfpt1 UTSW 6 87,027,906 (GRCm39) missense probably damaging 1.00
R9414:Gfpt1 UTSW 6 87,062,265 (GRCm39) missense probably benign
R9554:Gfpt1 UTSW 6 87,062,323 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGTATGTCAGCGCCTTTCC -3'
(R):5'- GGAGGGCCCAGAAATCCATTATC -3'

Sequencing Primer
(F):5'- GTATGTCAGCGCCTTTCCTTTATTG -3'
(R):5'- GGCCCAGAAATCCATTATCCAGTTC -3'
Posted On 2017-06-27