Incidental Mutation 'IGL01451:Gfpt2'
ID 84648
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gfpt2
Ensembl Gene ENSMUSG00000020363
Gene Name glutamine fructose-6-phosphate transaminase 2
Synonyms GFAT2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01451
Quality Score
Status
Chromosome 11
Chromosomal Location 49685005-49729440 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 49698517 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000020629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020629]
AlphaFold Q9Z2Z9
Predicted Effect probably benign
Transcript: ENSMUST00000020629
SMART Domains Protein: ENSMUSP00000020629
Gene: ENSMUSG00000020363

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130129
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik A G 3: 124,373,527 (GRCm39) S23P possibly damaging Het
Adam1a T C 5: 121,657,439 (GRCm39) Y618C probably benign Het
Amigo2 A C 15: 97,143,107 (GRCm39) S438R probably benign Het
Atp5me T C 5: 108,581,922 (GRCm39) I21V probably benign Het
Dnah2 T C 11: 69,365,017 (GRCm39) probably benign Het
Dock2 A G 11: 34,260,390 (GRCm39) Y984H probably damaging Het
Dpysl2 T A 14: 67,045,367 (GRCm39) I469F possibly damaging Het
Edem3 C T 1: 151,694,379 (GRCm39) T886I probably benign Het
Gart T C 16: 91,422,400 (GRCm39) T706A probably benign Het
Gm11541 T G 11: 94,586,495 (GRCm39) D84A unknown Het
Gne T C 4: 44,041,860 (GRCm39) probably null Het
Gria4 A T 9: 4,503,652 (GRCm39) D321E probably benign Het
Ift122 T G 6: 115,889,565 (GRCm39) probably null Het
Lcp2 A T 11: 33,997,345 (GRCm39) probably benign Het
Mcm2 C T 6: 88,868,948 (GRCm39) probably benign Het
Or8b54 A G 9: 38,687,225 (GRCm39) I225V probably benign Het
Ptpru C A 4: 131,496,803 (GRCm39) probably benign Het
Rpap2 T C 5: 107,751,492 (GRCm39) probably null Het
Slc25a39 T C 11: 102,295,726 (GRCm39) T138A probably damaging Het
St6galnac1 A C 11: 116,660,165 (GRCm39) S49R probably benign Het
Stat1 T C 1: 52,178,502 (GRCm39) L312P probably damaging Het
Tmem198 T C 1: 75,461,014 (GRCm39) probably benign Het
Top2a A T 11: 98,901,856 (GRCm39) L458Q probably damaging Het
Treml4 T C 17: 48,572,023 (GRCm39) probably benign Het
Trpm6 A G 19: 18,786,933 (GRCm39) D503G probably damaging Het
Ttn C A 2: 76,775,617 (GRCm39) E1854D unknown Het
Ubqln3 A T 7: 103,791,403 (GRCm39) M229K possibly damaging Het
Zfyve9 T C 4: 108,539,457 (GRCm39) T939A probably damaging Het
Other mutations in Gfpt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00934:Gfpt2 APN 11 49,699,950 (GRCm39) missense probably benign 0.00
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
R6435:Gfpt2 UTSW 11 49,726,478 (GRCm39) missense probably benign 0.00
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
Posted On 2013-11-11