Incidental Mutation 'R8066:Gart'
ID 620031
Institutional Source Beutler Lab
Gene Symbol Gart
Ensembl Gene ENSMUSG00000022962
Gene Name phosphoribosylglycinamide formyltransferase
Synonyms Prgs, Gaps
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8066 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 91418074-91443840 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 91436335 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 141 (N141D)
Ref Sequence ENSEMBL: ENSMUSP00000023684 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023684] [ENSMUST00000120450] [ENSMUST00000156713] [ENSMUST00000231380] [ENSMUST00000231444] [ENSMUST00000232289] [ENSMUST00000232367]
AlphaFold Q64737
Predicted Effect probably benign
Transcript: ENSMUST00000023684
AA Change: N141D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000023684
Gene: ENSMUSG00000022962
AA Change: N141D

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 probably benign
Transcript: ENSMUST00000120450
AA Change: N141D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000114034
Gene: ENSMUSG00000022962
AA Change: N141D

DomainStartEndE-ValueType
Pfam:GARS_N 3 104 1.8e-40 PFAM
GARS_A 105 298 4.42e-132 SMART
GARS_C 333 426 1.33e-44 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000156713
AA Change: N141D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000119272
Gene: ENSMUSG00000022962
AA Change: N141D

DomainStartEndE-ValueType
Pfam:GARS_N 3 104 1.4e-40 PFAM
GARS_A 105 298 4.42e-132 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000231380
AA Change: N141D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000231444
Predicted Effect probably benign
Transcript: ENSMUST00000232289
AA Change: N141D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000232367
AA Change: N141D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
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.] 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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 A G 11: 69,780,689 (GRCm39) V177A probably benign Het
Acsm2 C A 7: 119,190,548 (GRCm39) T517K probably damaging Het
Adam29 T G 8: 56,325,703 (GRCm39) L250F probably benign Het
Ankrd37 T C 8: 46,450,726 (GRCm39) D135G probably benign Het
Armh4 T C 14: 50,005,980 (GRCm39) T572A possibly damaging Het
Aspa T C 11: 73,204,372 (GRCm39) K199E possibly damaging Het
Aurka A T 2: 172,212,338 (GRCm39) I13K probably benign Het
Bag6 A G 17: 35,361,283 (GRCm39) D446G unknown Het
Bcar3 A T 3: 122,318,573 (GRCm39) I654F probably damaging Het
Ccdc188 A T 16: 18,037,058 (GRCm39) N210Y probably damaging Het
Ccdc25 A T 14: 66,083,751 (GRCm39) D28V possibly damaging Het
Ccn5 G T 2: 163,670,862 (GRCm39) C123F probably damaging Het
Cdc37 C T 9: 21,054,437 (GRCm39) E63K probably benign Het
Chrm4 T A 2: 91,758,042 (GRCm39) L150H probably damaging Het
Col5a2 A T 1: 45,452,628 (GRCm39) probably null Het
Ctr9 T A 7: 110,633,104 (GRCm39) Y117* probably null Het
Cyp4f37 C A 17: 32,854,047 (GRCm39) R499S probably benign Het
Egr4 T C 6: 85,489,277 (GRCm39) Y261C probably damaging Het
Fanca A T 8: 124,030,679 (GRCm39) C468S unknown Het
Get4 G A 5: 139,249,293 (GRCm39) V126M probably damaging Het
Gja3 T C 14: 57,273,263 (GRCm39) S370G probably benign Het
Gopc T C 10: 52,230,812 (GRCm39) K162R probably benign Het
Grpel1 A G 5: 36,626,889 (GRCm39) D57G probably benign Het
Hmmr G A 11: 40,612,499 (GRCm39) S206F probably damaging Het
Kcnma1 A G 14: 23,361,744 (GRCm39) L1149P probably benign Het
Lmbrd2 G A 15: 9,172,172 (GRCm39) R322Q probably benign Het
Lrrc59 T C 11: 94,525,426 (GRCm39) L74P possibly damaging Het
Mcam G T 9: 44,052,257 (GRCm39) K589N probably damaging Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Nadk G T 4: 155,661,524 (GRCm39) D17Y probably benign Het
Nrap A T 19: 56,342,562 (GRCm39) L813Q possibly damaging Het
Oga T C 19: 45,760,291 (GRCm39) K289R probably damaging Het
Or10h1 T C 17: 33,418,126 (GRCm39) F35L probably benign Het
Or14a260 A T 7: 85,985,014 (GRCm39) C197S probably benign Het
Or52b1 C T 7: 104,978,761 (GRCm39) V213I possibly damaging Het
Pcdhga8 A T 18: 37,859,435 (GRCm39) I164L probably benign Het
Pck2 C A 14: 55,781,858 (GRCm39) P251H probably benign Het
Phip A T 9: 82,757,351 (GRCm39) I1607K probably benign Het
Piwil2 T C 14: 70,658,168 (GRCm39) T220A probably benign Het
Plch1 G A 3: 63,618,478 (GRCm39) Q686* probably null Het
Pnpla2 A G 7: 141,039,581 (GRCm39) *487W probably null Het
Prdm14 C A 1: 13,184,540 (GRCm39) G544C probably benign Het
Psg22 A G 7: 18,452,218 (GRCm39) E45G possibly damaging Het
Psmb5 T C 14: 54,851,698 (GRCm39) D249G probably benign Het
Pstpip1 A G 9: 56,033,913 (GRCm39) I296V probably benign Het
S1pr3 T A 13: 51,573,955 (GRCm39) *379R probably null Het
Smc3 G A 19: 53,603,576 (GRCm39) R57H probably damaging Het
Spata31g1 C A 4: 42,971,929 (GRCm39) Q421K possibly damaging Het
Srcap T A 7: 127,139,484 (GRCm39) H1268Q possibly damaging Het
Srcap C T 7: 127,120,804 (GRCm39) R155C probably damaging Het
Srgap3 A G 6: 112,748,339 (GRCm39) F438L probably damaging Het
Svep1 A G 4: 58,113,650 (GRCm39) V999A probably benign Het
Tchp T A 5: 114,847,472 (GRCm39) L97Q probably benign Het
Tex46 G A 4: 136,340,265 (GRCm39) V117M probably benign Het
Tnnc2 T A 2: 164,619,661 (GRCm39) I102F possibly damaging Het
Trbv5 T A 6: 41,039,326 (GRCm39) C12S probably damaging Het
Trub2 T A 2: 29,667,867 (GRCm39) T258S possibly damaging Het
Uba3 T A 6: 97,178,882 (GRCm39) N87I probably damaging Het
Vmn1r160 A T 7: 22,571,315 (GRCm39) I223F probably damaging Het
Vmn1r192 G T 13: 22,371,565 (GRCm39) Y218* probably null Het
Vmn1r8 A G 6: 57,013,419 (GRCm39) M157V probably benign Het
Vps53 T C 11: 76,027,133 (GRCm39) E127G probably damaging Het
Vsig10 G T 5: 117,489,849 (GRCm39) E538D probably benign Het
Zfp647 A T 15: 76,796,095 (GRCm39) H188Q 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
IGL01451:Gart APN 16 91,422,400 (GRCm39) missense probably benign
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
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
Predicted Primers PCR Primer
(F):5'- ACTGACACATTGAGGCCCAC -3'
(R):5'- AAGATTATCTGTTCTACAGGTCTGC -3'

Sequencing Primer
(F):5'- TTGAGGCCCACTCCAGAAG -3'
(R):5'- GTGACCTAACTATATGTGGAAAAAGC -3'
Posted On 2020-01-23