Incidental Mutation 'R6435:Gfpt2'
ID 518753
Institutional Source Beutler Lab
Gene Symbol Gfpt2
Ensembl Gene ENSMUSG00000020363
Gene Name glutamine fructose-6-phosphate transaminase 2
Synonyms GFAT2
MMRRC Submission 044573-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6435 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 49685005-49729440 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 49726478 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 628 (S628G)
Ref Sequence ENSEMBL: ENSMUSP00000020629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020629]
AlphaFold Q9Z2Z9
Predicted Effect probably benign
Transcript: ENSMUST00000020629
AA Change: S628G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000020629
Gene: ENSMUSG00000020363
AA Change: S628G

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
Meta Mutation Damage Score 0.0718 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.2%
Validation Efficiency 100% (32/32)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl1 A T 2: 31,691,561 (GRCm39) T1027S possibly damaging Het
Ablim1 T C 19: 57,049,787 (GRCm39) I159V possibly damaging Het
Adcy1 A G 11: 7,111,367 (GRCm39) N886S possibly damaging Het
Baz1b G A 5: 135,266,799 (GRCm39) D1203N probably damaging Het
Chmp2a A T 7: 12,766,701 (GRCm39) Y72* probably null Het
Col6a1 A T 10: 76,546,957 (GRCm39) I755N unknown Het
Defa24 T A 8: 22,224,690 (GRCm39) F46L possibly damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Gcn1 A T 5: 115,749,081 (GRCm39) probably null Het
Hsdl2 C A 4: 59,610,668 (GRCm39) Q222K unknown Het
Ighv1-9 T A 12: 114,547,206 (GRCm39) I111F probably benign Het
Itch G A 2: 155,051,049 (GRCm39) D579N probably benign Het
Jdp2 A T 12: 85,655,132 (GRCm39) K65M probably damaging Het
Kif15 A T 9: 122,815,556 (GRCm39) E222V probably damaging Het
Map1b A G 13: 99,652,871 (GRCm39) V42A probably damaging Het
Mecom T A 3: 30,034,398 (GRCm39) E426V probably damaging Het
Meiosin T C 7: 18,834,844 (GRCm39) probably benign Het
Mfsd6 G T 1: 52,748,603 (GRCm39) Y87* probably null Het
Mybpc2 A G 7: 44,155,481 (GRCm39) V924A possibly damaging Het
Naip6 A T 13: 100,431,249 (GRCm39) M1196K probably benign Het
Nscme3l T C 19: 5,553,446 (GRCm39) I112V probably benign Het
Or52n5 A G 7: 104,588,041 (GRCm39) M103V probably damaging Het
Pcdh9 G A 14: 94,125,280 (GRCm39) P297S probably benign Het
Pold1 G A 7: 44,188,202 (GRCm39) R559C probably damaging Het
Rgs21 A G 1: 144,395,565 (GRCm39) F108L probably damaging Het
Runx1 A T 16: 92,441,183 (GRCm39) S209T possibly damaging Het
Sdccag8 G T 1: 176,642,428 (GRCm39) probably benign Het
Smc1b C T 15: 84,976,232 (GRCm39) R825Q probably benign Het
Srgap1 T C 10: 121,636,732 (GRCm39) D741G possibly damaging Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Homo
Tsc1 G A 2: 28,566,464 (GRCm39) V627M probably benign Het
Vmn2r106 C T 17: 20,488,725 (GRCm39) C558Y probably damaging Het
Zfp612 A G 8: 110,815,952 (GRCm39) I347M probably damaging Het
Other mutations in Gfpt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00934:Gfpt2 APN 11 49,699,950 (GRCm39) missense probably benign 0.00
IGL01451:Gfpt2 APN 11 49,698,517 (GRCm39) splice site probably benign
IGL01490:Gfpt2 APN 11 49,717,954 (GRCm39) splice site probably benign
IGL01550:Gfpt2 APN 11 49,715,150 (GRCm39) splice site probably null
IGL01552:Gfpt2 APN 11 49,695,832 (GRCm39) nonsense probably null
IGL02349:Gfpt2 APN 11 49,698,530 (GRCm39) missense probably benign 0.02
IGL02815:Gfpt2 APN 11 49,714,084 (GRCm39) missense possibly damaging 0.89
plethora UTSW 11 49,715,268 (GRCm39) missense probably damaging 1.00
R0525:Gfpt2 UTSW 11 49,720,602 (GRCm39) missense probably benign 0.06
R0539:Gfpt2 UTSW 11 49,723,725 (GRCm39) missense probably damaging 1.00
R1055:Gfpt2 UTSW 11 49,718,038 (GRCm39) missense probably damaging 1.00
R1178:Gfpt2 UTSW 11 49,714,136 (GRCm39) missense probably benign 0.42
R1340:Gfpt2 UTSW 11 49,723,688 (GRCm39) missense probably damaging 1.00
R2372:Gfpt2 UTSW 11 49,698,542 (GRCm39) missense probably benign 0.00
R4154:Gfpt2 UTSW 11 49,726,605 (GRCm39) splice site probably null
R4476:Gfpt2 UTSW 11 49,715,169 (GRCm39) missense probably benign 0.17
R4679:Gfpt2 UTSW 11 49,714,564 (GRCm39) missense probably benign 0.00
R4863:Gfpt2 UTSW 11 49,701,797 (GRCm39) missense probably benign 0.06
R5113:Gfpt2 UTSW 11 49,714,626 (GRCm39) missense probably damaging 1.00
R5509:Gfpt2 UTSW 11 49,717,973 (GRCm39) missense possibly damaging 0.75
R5830:Gfpt2 UTSW 11 49,699,888 (GRCm39) missense probably benign 0.03
R7079:Gfpt2 UTSW 11 49,728,578 (GRCm39) missense possibly damaging 0.77
R7135:Gfpt2 UTSW 11 49,695,782 (GRCm39) missense probably damaging 1.00
R7261:Gfpt2 UTSW 11 49,714,078 (GRCm39) missense possibly damaging 0.77
R7294:Gfpt2 UTSW 11 49,709,435 (GRCm39) nonsense probably null
R7384:Gfpt2 UTSW 11 49,701,817 (GRCm39) missense possibly damaging 0.56
R7778:Gfpt2 UTSW 11 49,715,268 (GRCm39) missense probably damaging 1.00
R7806:Gfpt2 UTSW 11 49,714,142 (GRCm39) missense probably benign
R7824:Gfpt2 UTSW 11 49,715,268 (GRCm39) missense probably damaging 1.00
R8245:Gfpt2 UTSW 11 49,714,785 (GRCm39) missense probably benign 0.01
R8262:Gfpt2 UTSW 11 49,714,607 (GRCm39) missense probably benign 0.02
R8437:Gfpt2 UTSW 11 49,695,694 (GRCm39) intron probably benign
R8791:Gfpt2 UTSW 11 49,714,043 (GRCm39) missense probably benign 0.01
R9072:Gfpt2 UTSW 11 49,714,185 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CATGACCTCACTGATAATGTCACC -3'
(R):5'- TGGTACCCTGAGCCCATAAC -3'

Sequencing Primer
(F):5'- TGTCACCACGATAGCAGTG -3'
(R):5'- TGCATCGGTAAGAAAGAACCTTTAGC -3'
Posted On 2018-05-24