Incidental Mutation 'IGL01451:Gart'
ID 84639
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gart
Ensembl Gene ENSMUSG00000022962
Gene Name phosphoribosylglycinamide formyltransferase
Synonyms Prgs, Gaps
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01451
Quality Score
Status
Chromosome 16
Chromosomal Location 91418074-91443840 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 91422400 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 706 (T706A)
Ref Sequence ENSEMBL: ENSMUSP00000156002 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023684] [ENSMUST00000156713] [ENSMUST00000232289] [ENSMUST00000232640]
AlphaFold Q64737
Predicted Effect probably benign
Transcript: ENSMUST00000023684
AA Change: T706A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000023684
Gene: ENSMUSG00000022962
AA Change: T706A

DomainStartEndE-ValueType
Pfam:GARS_N 3 104 6.4e-37 PFAM
GARS_A 105 298 4.42e-132 SMART
GARS_C 333 426 1.33e-44 SMART
Pfam:AIRS 473 593 1.2e-17 PFAM
Pfam:AIRS_C 606 777 9e-40 PFAM
Pfam:Formyl_trans_N 808 988 3.4e-68 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138207
Predicted Effect probably benign
Transcript: ENSMUST00000156713
SMART Domains Protein: ENSMUSP00000119272
Gene: ENSMUSG00000022962

DomainStartEndE-ValueType
Pfam:GARS_N 3 104 1.4e-40 PFAM
GARS_A 105 298 4.42e-132 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000232289
AA Change: T706A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232620
Predicted Effect probably benign
Transcript: ENSMUST00000232640
Predicted Effect probably benign
Transcript: ENSMUST00000232643
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a trifunctional polypeptide. It has phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase activity which is required for de novo purine biosynthesis. This enzyme is highly conserved in vertebrates. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
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
Gfpt2 A T 11: 49,698,517 (GRCm39) 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 Gart
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00597:Gart APN 16 91,435,677 (GRCm39) missense possibly damaging 0.58
IGL00837:Gart APN 16 91,435,608 (GRCm39) unclassified probably benign
IGL01010:Gart APN 16 91,439,980 (GRCm39) nonsense probably null
IGL01064:Gart APN 16 91,419,895 (GRCm39) missense probably damaging 1.00
IGL02084:Gart APN 16 91,418,488 (GRCm39) missense probably benign
IGL02301:Gart APN 16 91,418,725 (GRCm39) splice site probably benign
IGL02814:Gart APN 16 91,420,345 (GRCm39) missense possibly damaging 0.58
sylvester UTSW 16 91,427,490 (GRCm39) splice site probably benign
PIT4453001:Gart UTSW 16 91,433,426 (GRCm39) missense probably damaging 1.00
R0137:Gart UTSW 16 91,422,282 (GRCm39) missense probably benign
R0197:Gart UTSW 16 91,420,291 (GRCm39) missense possibly damaging 0.95
R0321:Gart UTSW 16 91,419,925 (GRCm39) unclassified probably benign
R0322:Gart UTSW 16 91,419,925 (GRCm39) unclassified probably benign
R0398:Gart UTSW 16 91,436,337 (GRCm39) missense probably damaging 1.00
R0410:Gart UTSW 16 91,438,215 (GRCm39) missense probably damaging 1.00
R0496:Gart UTSW 16 91,419,925 (GRCm39) unclassified probably benign
R0620:Gart UTSW 16 91,427,490 (GRCm39) splice site probably benign
R0628:Gart UTSW 16 91,430,790 (GRCm39) missense probably benign 0.01
R0883:Gart UTSW 16 91,420,291 (GRCm39) missense possibly damaging 0.95
R1346:Gart UTSW 16 91,425,070 (GRCm39) splice site probably null
R1490:Gart UTSW 16 91,421,232 (GRCm39) missense probably damaging 1.00
R1686:Gart UTSW 16 91,422,237 (GRCm39) missense probably damaging 1.00
R1751:Gart UTSW 16 91,439,837 (GRCm39) splice site probably benign
R1917:Gart UTSW 16 91,425,037 (GRCm39) missense probably damaging 1.00
R2144:Gart UTSW 16 91,426,969 (GRCm39) missense probably damaging 1.00
R2421:Gart UTSW 16 91,439,928 (GRCm39) splice site probably null
R4305:Gart UTSW 16 91,430,880 (GRCm39) missense possibly damaging 0.48
R4377:Gart UTSW 16 91,430,982 (GRCm39) missense probably benign 0.31
R4599:Gart UTSW 16 91,419,833 (GRCm39) nonsense probably null
R4619:Gart UTSW 16 91,422,321 (GRCm39) missense probably damaging 1.00
R4620:Gart UTSW 16 91,422,321 (GRCm39) missense probably damaging 1.00
R5112:Gart UTSW 16 91,430,933 (GRCm39) missense probably benign 0.02
R5902:Gart UTSW 16 91,425,415 (GRCm39) missense probably damaging 1.00
R5975:Gart UTSW 16 91,421,224 (GRCm39) missense probably damaging 1.00
R6736:Gart UTSW 16 91,432,995 (GRCm39) missense probably benign 0.21
R7041:Gart UTSW 16 91,440,031 (GRCm39) start gained probably benign
R7150:Gart UTSW 16 91,425,351 (GRCm39) missense possibly damaging 0.69
R7320:Gart UTSW 16 91,418,569 (GRCm39) missense probably benign 0.00
R7709:Gart UTSW 16 91,419,853 (GRCm39) missense possibly damaging 0.92
R7748:Gart UTSW 16 91,427,540 (GRCm39) missense possibly damaging 0.66
R7911:Gart UTSW 16 91,435,672 (GRCm39) missense probably benign 0.23
R8066:Gart UTSW 16 91,436,335 (GRCm39) missense probably benign
R8209:Gart UTSW 16 91,425,041 (GRCm39) missense possibly damaging 0.78
R8824:Gart UTSW 16 91,427,591 (GRCm39) missense possibly damaging 0.64
R8840:Gart UTSW 16 91,433,010 (GRCm39) missense probably benign 0.02
R9046:Gart UTSW 16 91,418,561 (GRCm39) missense probably damaging 1.00
R9178:Gart UTSW 16 91,430,904 (GRCm39) missense possibly damaging 0.87
R9514:Gart UTSW 16 91,427,596 (GRCm39) missense probably benign 0.03
R9753:Gart UTSW 16 91,430,949 (GRCm39) missense probably damaging 1.00
Posted On 2013-11-11