Incidental Mutation 'R1917:Gart'
ID 212646
Institutional Source Beutler Lab
Gene Symbol Gart
Ensembl Gene ENSMUSG00000022962
Gene Name phosphoribosylglycinamide formyltransferase
Synonyms Gaps, Prgs
MMRRC Submission 039935-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1917 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 91621186-91646952 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 91628149 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 662 (Y662C)
Ref Sequence ENSEMBL: ENSMUSP00000156002 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023684] [ENSMUST00000156713] [ENSMUST00000232289]
AlphaFold Q64737
Predicted Effect probably damaging
Transcript: ENSMUST00000023684
AA Change: Y662C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023684
Gene: ENSMUSG00000022962
AA Change: Y662C

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 damaging
Transcript: ENSMUST00000232289
AA Change: Y662C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.9681 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.8%
  • 20x: 93.6%
Validation Efficiency 100% (83/83)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931440F15Rik A G 11: 29,824,039 (GRCm38) S473P probably benign Het
Abca8a A G 11: 110,091,515 (GRCm38) probably benign Het
Adgre5 A G 8: 83,729,109 (GRCm38) V190A probably damaging Het
Akap6 A G 12: 53,104,612 (GRCm38) N1153S probably benign Het
Aldh1a7 G A 19: 20,727,455 (GRCm38) H20Y probably benign Het
B430306N03Rik A G 17: 48,324,148 (GRCm38) E278G probably benign Het
Cacna1b C A 2: 24,616,879 (GRCm38) R72L probably null Het
Cc2d2a C G 5: 43,706,222 (GRCm38) S675R probably damaging Het
Ccdc88b T A 19: 6,849,226 (GRCm38) E1040D probably damaging Het
Cmtm7 A G 9: 114,763,364 (GRCm38) V55A probably damaging Het
Coq4 A C 2: 29,789,926 (GRCm38) T77P probably damaging Het
Cyp2j11 C A 4: 96,339,974 (GRCm38) W136L probably damaging Het
Dctn2 T A 10: 127,275,049 (GRCm38) Y86* probably null Het
Ddx56 A G 11: 6,263,937 (GRCm38) probably null Het
Dopey2 T C 16: 93,716,262 (GRCm38) S30P probably damaging Het
Ep400 T C 5: 110,703,575 (GRCm38) K1347R unknown Het
Fat3 T A 9: 15,997,057 (GRCm38) T2550S possibly damaging Het
Fcrla G T 1: 170,927,526 (GRCm38) C5* probably null Het
Fermt1 T A 2: 132,922,842 (GRCm38) D365V probably damaging Het
Fhod3 A G 18: 25,085,601 (GRCm38) D807G probably benign Het
Fhod3 A G 18: 24,989,965 (GRCm38) probably benign Het
Fnip1 C T 11: 54,480,684 (GRCm38) T177I probably damaging Het
Gda A T 19: 21,397,640 (GRCm38) probably benign Het
Gk A G X: 85,760,580 (GRCm38) I85T probably damaging Het
Gm12169 A G 11: 46,528,531 (GRCm38) D58G possibly damaging Het
Gm14548 C T 7: 3,897,638 (GRCm38) V38M probably damaging Het
Gm3476 A G 14: 6,118,358 (GRCm38) L255P possibly damaging Het
Gm9966 T C 7: 95,958,477 (GRCm38) C2R unknown Het
Gnpda1 T C 18: 38,333,190 (GRCm38) probably null Het
Gtf2h4 G A 17: 35,670,198 (GRCm38) L246F possibly damaging Het
Hao1 A T 2: 134,523,060 (GRCm38) S216T probably benign Het
Hnrnpr C A 4: 136,332,488 (GRCm38) S301* probably null Het
Hsd3b2 A G 3: 98,712,026 (GRCm38) I201T probably benign Het
Jade2 T C 11: 51,818,538 (GRCm38) E548G possibly damaging Het
Katnbl1 T C 2: 112,409,179 (GRCm38) I241T probably benign Het
Keap1 G T 9: 21,233,806 (GRCm38) Q299K probably benign Het
Kif1a T C 1: 93,019,031 (GRCm38) I1650V possibly damaging Het
Lrba G A 3: 86,664,501 (GRCm38) G275R probably damaging Het
Map3k9 C A 12: 81,780,790 (GRCm38) E29* probably null Het
Mat1a G A 14: 41,121,437 (GRCm38) V307I probably damaging Het
Mcm2 A T 6: 88,891,803 (GRCm38) M324K possibly damaging Het
Metap1d T C 2: 71,511,527 (GRCm38) V155A probably damaging Het
Mtbp A G 15: 55,564,677 (GRCm38) probably benign Het
Myh14 T C 7: 44,657,925 (GRCm38) T231A probably benign Het
Mylk4 A T 13: 32,724,853 (GRCm38) D90E probably benign Het
Myo15b T A 11: 115,882,254 (GRCm38) I1837K possibly damaging Het
Myo3a T A 2: 22,291,922 (GRCm38) H242Q probably damaging Het
Nxn A G 11: 76,261,672 (GRCm38) probably benign Het
Olfr791 T A 10: 129,527,049 (GRCm38) V274D probably damaging Het
Pak3 C A X: 143,791,302 (GRCm38) A553E possibly damaging Het
Pdia2 T A 17: 26,198,105 (GRCm38) T122S possibly damaging Het
Plod2 A G 9: 92,581,257 (GRCm38) T132A probably benign Het
Ptprz1 T A 6: 23,035,040 (GRCm38) probably benign Het
Rad54b A C 4: 11,601,693 (GRCm38) N416T probably damaging Het
Recql4 A T 15: 76,703,837 (GRCm38) Y1142* probably null Het
Rnf216 A G 5: 142,992,806 (GRCm38) V859A probably benign Het
Scnm1 G T 3: 95,130,273 (GRCm38) P161T possibly damaging Het
Serpinb6b A G 13: 32,978,240 (GRCm38) I222V probably benign Het
Serpinf1 A G 11: 75,411,007 (GRCm38) I274T possibly damaging Het
Slc28a1 T C 7: 81,169,586 (GRCm38) F641L probably benign Het
Slc8a2 A G 7: 16,152,920 (GRCm38) I657V probably benign Het
Smchd1 A G 17: 71,407,237 (GRCm38) I877T possibly damaging Het
Spata31 T C 13: 64,920,865 (GRCm38) Y276H possibly damaging Het
Spire2 A G 8: 123,363,071 (GRCm38) D447G probably benign Het
Stk3 G A 15: 35,073,217 (GRCm38) T119I probably damaging Het
Stxbp5 C A 10: 9,812,298 (GRCm38) V420F possibly damaging Het
Sult2a5 T C 7: 13,670,684 (GRCm38) F282S probably damaging Het
Syk A T 13: 52,622,708 (GRCm38) D248V probably damaging Het
Thoc6 C T 17: 23,669,390 (GRCm38) probably benign Het
Tll2 T A 19: 41,128,497 (GRCm38) D293V possibly damaging Het
Umodl1 G A 17: 30,984,043 (GRCm38) V457M probably damaging Het
Usp19 T A 9: 108,499,325 (GRCm38) C689* probably null Het
Usp24 T G 4: 106,410,286 (GRCm38) V1955G probably damaging Het
Vmn1r226 T C 17: 20,687,580 (GRCm38) S25P probably damaging Het
Vmn2r69 C T 7: 85,411,683 (GRCm38) C231Y probably damaging Het
Wdr73 C T 7: 80,893,333 (GRCm38) D176N probably benign Het
Wnt7b T A 15: 85,559,080 (GRCm38) I41F probably damaging Het
Zfhx3 T C 8: 108,956,248 (GRCm38) S3440P unknown Het
Zfp52 T G 17: 21,560,164 (GRCm38) N91K probably benign Het
Zfp930 C A 8: 69,228,705 (GRCm38) Q350K probably benign Het
Zfp949 T C 9: 88,570,062 (GRCm38) S562P probably damaging Het
Other mutations in Gart
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00597:Gart APN 16 91,638,789 (GRCm38) missense possibly damaging 0.58
IGL00837:Gart APN 16 91,638,720 (GRCm38) unclassified probably benign
IGL01010:Gart APN 16 91,643,092 (GRCm38) nonsense probably null
IGL01064:Gart APN 16 91,623,007 (GRCm38) missense probably damaging 1.00
IGL01451:Gart APN 16 91,625,512 (GRCm38) missense probably benign
IGL02084:Gart APN 16 91,621,600 (GRCm38) missense probably benign
IGL02301:Gart APN 16 91,621,837 (GRCm38) splice site probably benign
IGL02814:Gart APN 16 91,623,457 (GRCm38) missense possibly damaging 0.58
sylvester UTSW 16 91,630,602 (GRCm38) splice site probably benign
PIT4453001:Gart UTSW 16 91,636,538 (GRCm38) missense probably damaging 1.00
R0137:Gart UTSW 16 91,625,394 (GRCm38) missense probably benign
R0197:Gart UTSW 16 91,623,403 (GRCm38) missense possibly damaging 0.95
R0321:Gart UTSW 16 91,623,037 (GRCm38) unclassified probably benign
R0322:Gart UTSW 16 91,623,037 (GRCm38) unclassified probably benign
R0398:Gart UTSW 16 91,639,449 (GRCm38) missense probably damaging 1.00
R0410:Gart UTSW 16 91,641,327 (GRCm38) missense probably damaging 1.00
R0496:Gart UTSW 16 91,623,037 (GRCm38) unclassified probably benign
R0620:Gart UTSW 16 91,630,602 (GRCm38) splice site probably benign
R0628:Gart UTSW 16 91,633,902 (GRCm38) missense probably benign 0.01
R0883:Gart UTSW 16 91,623,403 (GRCm38) missense possibly damaging 0.95
R1346:Gart UTSW 16 91,628,182 (GRCm38) splice site probably null
R1490:Gart UTSW 16 91,624,344 (GRCm38) missense probably damaging 1.00
R1686:Gart UTSW 16 91,625,349 (GRCm38) missense probably damaging 1.00
R1751:Gart UTSW 16 91,642,949 (GRCm38) splice site probably benign
R2144:Gart UTSW 16 91,630,081 (GRCm38) missense probably damaging 1.00
R2421:Gart UTSW 16 91,643,040 (GRCm38) splice site probably null
R4305:Gart UTSW 16 91,633,992 (GRCm38) missense possibly damaging 0.48
R4377:Gart UTSW 16 91,634,094 (GRCm38) missense probably benign 0.31
R4599:Gart UTSW 16 91,622,945 (GRCm38) nonsense probably null
R4619:Gart UTSW 16 91,625,433 (GRCm38) missense probably damaging 1.00
R4620:Gart UTSW 16 91,625,433 (GRCm38) missense probably damaging 1.00
R5112:Gart UTSW 16 91,634,045 (GRCm38) missense probably benign 0.02
R5902:Gart UTSW 16 91,628,527 (GRCm38) missense probably damaging 1.00
R5975:Gart UTSW 16 91,624,336 (GRCm38) missense probably damaging 1.00
R6736:Gart UTSW 16 91,636,107 (GRCm38) missense probably benign 0.21
R7041:Gart UTSW 16 91,643,143 (GRCm38) start gained probably benign
R7150:Gart UTSW 16 91,628,463 (GRCm38) missense possibly damaging 0.69
R7320:Gart UTSW 16 91,621,681 (GRCm38) missense probably benign 0.00
R7709:Gart UTSW 16 91,622,965 (GRCm38) missense possibly damaging 0.92
R7748:Gart UTSW 16 91,630,652 (GRCm38) missense possibly damaging 0.66
R7911:Gart UTSW 16 91,638,784 (GRCm38) missense probably benign 0.23
R8066:Gart UTSW 16 91,639,447 (GRCm38) missense probably benign
R8209:Gart UTSW 16 91,628,153 (GRCm38) missense possibly damaging 0.78
R8824:Gart UTSW 16 91,630,703 (GRCm38) missense possibly damaging 0.64
R8840:Gart UTSW 16 91,636,122 (GRCm38) missense probably benign 0.02
R9046:Gart UTSW 16 91,621,673 (GRCm38) missense probably damaging 1.00
R9178:Gart UTSW 16 91,634,016 (GRCm38) missense possibly damaging 0.87
R9514:Gart UTSW 16 91,630,708 (GRCm38) missense probably benign 0.03
R9753:Gart UTSW 16 91,634,061 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCAAATCCACTGCAGACTG -3'
(R):5'- GAAACCCAGGTCACTAGGACTAG -3'

Sequencing Primer
(F):5'- ATCCACTGCAGACTGCTGAG -3'
(R):5'- CCAGGTCACTAGGACTAGGATGG -3'
Posted On 2014-07-14