Incidental Mutation 'R7120:Gfpt1'
ID 551928
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 045209-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7120 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 87019828-87069179 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87064375 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 655 (H655R)
Ref Sequence ENSEMBL: ENSMUSP00000032057 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032057] [ENSMUST00000113658]
AlphaFold P47856
Predicted Effect probably benign
Transcript: ENSMUST00000032057
AA Change: H655R

PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000032057
Gene: ENSMUSG00000029992
AA Change: H655R

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
AA Change: H639R

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000109288
Gene: ENSMUSG00000029992
AA Change: H639R

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810062G17Rik A T 3: 36,536,016 (GRCm39) Q94L unknown Het
4933411K16Rik C T 19: 42,041,112 (GRCm39) A81V probably benign Het
Actr3 A C 1: 125,331,169 (GRCm39) Y273* probably null Het
Aoc1 T A 6: 48,883,531 (GRCm39) I469N probably damaging Het
Arhgef28 A T 13: 98,081,047 (GRCm39) L1270Q probably damaging Het
Atp2c1 G A 9: 105,297,385 (GRCm39) Q780* probably null Het
Bbs10 T C 10: 111,135,310 (GRCm39) V141A possibly damaging Het
Bivm A T 1: 44,165,606 (GRCm39) T19S probably benign Het
Cacna1h T G 17: 25,610,481 (GRCm39) H675P probably benign Het
Cadps T A 14: 12,439,919 (GRCm38) L1204F probably damaging Het
Cald1 T C 6: 34,663,011 (GRCm39) probably null Het
Calr A G 8: 85,569,457 (GRCm39) M357T probably damaging Het
Ccni A T 5: 93,331,190 (GRCm39) Y260* probably null Het
Csrnp3 C A 2: 65,853,354 (GRCm39) T594K probably damaging Het
Dek A T 13: 47,253,659 (GRCm39) M152K unknown Het
Depdc1b T C 13: 108,498,781 (GRCm39) W155R probably benign Het
Ehd1 A G 19: 6,347,591 (GRCm39) K315R probably benign Het
Epn3 C A 11: 94,383,254 (GRCm39) R323S probably benign Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fbxo10 T A 4: 45,040,533 (GRCm39) K891* probably null Het
Fras1 G T 5: 96,900,819 (GRCm39) G3013* probably null Het
Gbp2b A G 3: 142,312,507 (GRCm39) T297A probably benign Het
Gbp7 T C 3: 142,249,734 (GRCm39) S402P probably damaging Het
Gclc T C 9: 77,694,032 (GRCm39) Y329H probably damaging Het
Gm4787 C A 12: 81,425,260 (GRCm39) M299I probably benign Het
Grb7 C A 11: 98,345,817 (GRCm39) R532S probably benign Het
Hmcn1 A T 1: 150,576,292 (GRCm39) I2066N probably damaging Het
Hnrnpll T C 17: 80,341,486 (GRCm39) T518A probably benign Het
Hps3 G A 3: 20,065,705 (GRCm39) R712W probably damaging Het
Hspd1 A G 1: 55,118,388 (GRCm39) V406A probably benign Het
Igkv2-112 T C 6: 68,197,510 (GRCm39) F61L probably benign Het
Iqcf5 G A 9: 106,392,995 (GRCm39) R84H probably damaging Het
Itgad T A 7: 127,773,146 (GRCm39) M1K probably null Het
Kmt2d A G 15: 98,758,946 (GRCm39) S1292P unknown Het
Macc1 C A 12: 119,409,480 (GRCm39) Q83K possibly damaging Het
Map3k4 G T 17: 12,490,354 (GRCm39) A359E probably damaging Het
Mfap3 T A 11: 57,419,043 (GRCm39) C68S probably damaging Het
Mipep C T 14: 61,112,696 (GRCm39) R660C possibly damaging Het
Morc2b A T 17: 33,354,787 (GRCm39) L995Q probably damaging Het
Mrc1 A G 2: 14,313,508 (GRCm39) N913S probably damaging Het
N4bp1 C A 8: 87,587,495 (GRCm39) C481F probably benign Het
Nae1 A G 8: 105,252,910 (GRCm39) probably null Het
Nup214 T A 2: 31,941,054 (GRCm39) V29E probably benign Het
Or1e30 A T 11: 73,677,940 (GRCm39) M59L probably damaging Het
Or8c11 T C 9: 38,289,945 (GRCm39) L250P probably damaging Het
Orai1 A G 5: 123,167,535 (GRCm39) E236G possibly damaging Het
P2rx7 A G 5: 122,819,357 (GRCm39) Y593C probably benign Het
Pcbp2 A G 15: 102,383,113 (GRCm39) D77G possibly damaging Het
Pcdha8 G A 18: 37,126,840 (GRCm39) V441M possibly damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Plaa A G 4: 94,470,919 (GRCm39) S406P possibly damaging Het
Plekhh1 C A 12: 79,117,713 (GRCm39) P903Q probably benign Het
Plekhh3 T C 11: 101,059,064 (GRCm39) E92G probably damaging Het
Ptpn9 T C 9: 56,967,166 (GRCm39) F463S probably damaging Het
Ptprn2 A C 12: 116,835,676 (GRCm39) E337A probably benign Het
Rubcn C T 16: 32,656,839 (GRCm39) R527Q probably damaging Het
Samd3 C T 10: 26,106,864 (GRCm39) T73M possibly damaging Het
Sfxn4 T A 19: 60,840,477 (GRCm39) K173* probably null Het
Son CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC 16: 91,453,579 (GRCm39) probably benign Het
Son T G 16: 91,467,414 (GRCm39) N2258K unknown Het
Sspo A T 6: 48,442,505 (GRCm39) H2000L probably benign Het
Syne1 C T 10: 5,243,971 (GRCm39) S2731N probably benign Het
Syt6 T C 3: 103,494,673 (GRCm39) Y213H probably damaging Het
Tkt A G 14: 30,281,779 (GRCm39) N99S probably benign Het
Tlcd3b T C 7: 126,428,505 (GRCm39) L221P probably damaging Het
Tmem258 G A 19: 10,181,602 (GRCm39) probably benign Het
Tnks1bp1 T C 2: 84,902,441 (GRCm39) S1702P probably damaging Het
Tpte A G 8: 22,817,689 (GRCm39) D225G probably damaging Het
Trak1 T A 9: 121,289,564 (GRCm39) F625L probably benign Het
Ttc33 G T 15: 5,241,488 (GRCm39) C77F probably benign Het
Ugt1a2 A G 1: 88,128,522 (GRCm39) H55R probably damaging Het
Vmn1r169 G T 7: 23,277,444 (GRCm39) V279L probably benign Het
Vmn2r25 T C 6: 123,805,394 (GRCm39) K488E possibly damaging Het
Vmn2r8 A T 5: 108,956,504 (GRCm39) D39E possibly damaging 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
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
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'- GAGCAGTCAGACCACATGTG -3'
(R):5'- TAAGCTACGAACTGGCGGTG -3'

Sequencing Primer
(F):5'- ACATGTGTGTGTCAGGCAG -3'
(R):5'- ACCTGAGTTCAACGCTTAGG -3'
Posted On 2019-05-15