Incidental Mutation 'IGL02724:Gfpt1'
ID 305094
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gfpt1
Ensembl Gene ENSMUSG00000029992
Gene Name glutamine fructose-6-phosphate transaminase 1
Synonyms 2810423A18Rik, GFAT1, GFA, GFAT
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02724
Quality Score
Status
Chromosome 6
Chromosomal Location 87019828-87069179 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 87033164 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 130 (K130*)
Ref Sequence ENSEMBL: ENSMUSP00000109288 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032057] [ENSMUST00000113655] [ENSMUST00000113657] [ENSMUST00000113658]
AlphaFold P47856
Predicted Effect probably null
Transcript: ENSMUST00000032057
AA Change: K130*
SMART Domains Protein: ENSMUSP00000032057
Gene: ENSMUSG00000029992
AA Change: K130*

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: ENSMUST00000113655
SMART Domains Protein: ENSMUSP00000109285
Gene: ENSMUSG00000029992

DomainStartEndE-ValueType
Pfam:GATase_2 2 65 7.8e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113657
SMART Domains Protein: ENSMUSP00000109287
Gene: ENSMUSG00000029992

DomainStartEndE-ValueType
Pfam:GATase_2 2 80 1.7e-10 PFAM
Pfam:GATase_2 76 120 9.5e-10 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000113658
AA Change: K130*
SMART Domains Protein: ENSMUSP00000109288
Gene: ENSMUSG00000029992
AA Change: K130*

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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accs T G 2: 93,676,121 (GRCm39) K85Q probably damaging Het
Acmsd A T 1: 127,676,822 (GRCm39) T116S possibly damaging Het
Agrn T A 4: 156,257,264 (GRCm39) K1189* probably null Het
Alk T C 17: 72,292,455 (GRCm39) R508G probably benign Het
Arhgap23 T A 11: 97,382,005 (GRCm39) Y1123N probably damaging Het
Arl6ip5 G T 6: 97,209,365 (GRCm39) M133I probably benign Het
Axin2 G A 11: 108,833,772 (GRCm39) G573D possibly damaging Het
B4galt2 A G 4: 117,734,075 (GRCm39) probably null Het
Baz2b G T 2: 59,807,718 (GRCm39) D180E possibly damaging Het
Btnl6 G T 17: 34,727,149 (GRCm39) Y460* probably null Het
Cct7 A T 6: 85,436,131 (GRCm39) D14V probably damaging Het
Cd55 T A 1: 130,377,149 (GRCm39) probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cdh2 C T 18: 16,762,537 (GRCm39) R526Q probably benign Het
Chi3l1 A C 1: 134,116,981 (GRCm39) E315A probably damaging Het
Cmya5 A G 13: 93,233,163 (GRCm39) S642P probably benign Het
Cpm C A 10: 117,465,756 (GRCm39) T43K probably damaging Het
Cracd T C 5: 77,006,306 (GRCm39) V889A unknown Het
Cyp8b1 A T 9: 121,744,453 (GRCm39) V293D probably benign Het
Dock1 T G 7: 134,765,082 (GRCm39) D1691E probably benign Het
Fasn T C 11: 120,700,659 (GRCm39) D2120G probably benign Het
Gal3st4 T C 5: 138,263,679 (GRCm39) K440R probably benign Het
Gpr26 T C 7: 131,576,121 (GRCm39) probably null Het
Htr2a A T 14: 74,882,502 (GRCm39) I163F probably damaging Het
Ift70a2 T C 2: 75,806,682 (GRCm39) E610G probably benign Het
Insrr A G 3: 87,716,879 (GRCm39) D673G probably benign Het
Ipo8 G T 6: 148,692,979 (GRCm39) C636* probably null Het
Kirrel1 C A 3: 86,997,780 (GRCm39) E248* probably null Het
Lrp6 A G 6: 134,461,228 (GRCm39) V743A probably damaging Het
Lrrc45 C A 11: 120,609,144 (GRCm39) S374R probably benign Het
Map3k9 G A 12: 81,771,516 (GRCm39) P714S probably benign Het
Mrgprb8 T A 7: 48,039,121 (GRCm39) L264Q possibly damaging Het
Mroh4 C A 15: 74,478,000 (GRCm39) W902L probably benign Het
Nfat5 T A 8: 108,085,367 (GRCm39) D535E probably damaging Het
Nfatc3 T C 8: 106,834,817 (GRCm39) V713A probably benign Het
Npc1l1 C T 11: 6,164,684 (GRCm39) V1122M possibly damaging Het
Nsg2 A G 11: 32,005,011 (GRCm39) probably null Het
Or4c15 C A 2: 88,759,792 (GRCm39) R289L probably damaging Het
Or8s10 T A 15: 98,335,660 (GRCm39) F103L probably benign Het
Pax9 A T 12: 56,756,604 (GRCm39) H314L possibly damaging Het
Phf21a A T 2: 92,190,592 (GRCm39) I584F probably damaging Het
Pip5k1c A G 10: 81,149,296 (GRCm39) E536G probably benign Het
Plekhm3 A G 1: 64,834,276 (GRCm39) S736P probably damaging Het
Ppp3cb T A 14: 20,573,645 (GRCm39) probably null Het
Prdm9 A T 17: 15,783,522 (GRCm39) S14R probably benign Het
Proc A G 18: 32,267,925 (GRCm39) I71T probably damaging Het
Prom2 T A 2: 127,380,577 (GRCm39) probably benign Het
Psd T C 19: 46,307,984 (GRCm39) T675A probably benign Het
Rnf215 G T 11: 4,090,305 (GRCm39) R341L probably damaging Het
Ryr3 A G 2: 112,732,921 (GRCm39) probably null Het
Sh2d7 C A 9: 54,448,105 (GRCm39) T42N probably benign Het
Sh3glb2 C T 2: 30,236,368 (GRCm39) G279D probably benign Het
Slc25a46 A G 18: 31,738,868 (GRCm39) probably benign Het
Snx17 T C 5: 31,354,390 (GRCm39) S167P probably damaging Het
Snx19 A G 9: 30,343,556 (GRCm39) N572S possibly damaging Het
Sptbn4 G A 7: 27,067,104 (GRCm39) R1937C probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Srsf11 T C 3: 157,722,068 (GRCm39) probably benign Het
Taar7b A T 10: 23,876,581 (GRCm39) M249L probably benign Het
Tle6 G A 10: 81,435,898 (GRCm39) Q6* probably null Het
Twnk G T 19: 44,996,557 (GRCm39) R330L probably damaging Het
Unc13a C A 8: 72,108,949 (GRCm39) probably benign Het
Vmn2r107 A G 17: 20,577,006 (GRCm39) T335A possibly damaging Het
Wdtc1 A T 4: 133,024,789 (GRCm39) S469R possibly damaging Het
Ypel1 A G 16: 16,921,466 (GRCm39) Y73H probably benign Het
Zfp382 A T 7: 29,833,162 (GRCm39) Y271F probably benign 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
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
R6003:Gfpt1 UTSW 6 87,065,230 (GRCm39) splice site probably null
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
Posted On 2015-04-16