Incidental Mutation 'IGL02084:Gart'
ID283476
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gart
Ensembl Gene ENSMUSG00000022962
Gene Namephosphoribosylglycinamide formyltransferase
SynonymsGaps, Prgs
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02084
Quality Score
Status
Chromosome16
Chromosomal Location91621186-91646952 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 91621600 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Arginine at position 86 (Q86R)
Ref Sequence ENSEMBL: ENSMUSP00000155957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023684] [ENSMUST00000049244] [ENSMUST00000133731] [ENSMUST00000143058] [ENSMUST00000156713] [ENSMUST00000169982] [ENSMUST00000232289] [ENSMUST00000232640]
Predicted Effect probably benign
Transcript: ENSMUST00000023684
AA Change: Q997R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000023684
Gene: ENSMUSG00000022962
AA Change: Q997R

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: ENSMUST00000049244
SMART Domains Protein: ENSMUSP00000048113
Gene: ENSMUSG00000039763

DomainStartEndE-ValueType
DnaJ 47 105 1.04e-11 SMART
low complexity region 112 123 N/A INTRINSIC
Pfam:DUF1992 203 342 4.7e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133731
SMART Domains Protein: ENSMUSP00000118526
Gene: ENSMUSG00000039763

DomainStartEndE-ValueType
DnaJ 47 84 6.65e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138207
Predicted Effect probably benign
Transcript: ENSMUST00000143058
SMART Domains Protein: ENSMUSP00000120318
Gene: ENSMUSG00000039763

DomainStartEndE-ValueType
DnaJ 71 129 1.04e-11 SMART
low complexity region 136 147 N/A INTRINSIC
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: ENSMUST00000169982
SMART Domains Protein: ENSMUSP00000132288
Gene: ENSMUSG00000039763

DomainStartEndE-ValueType
DnaJ 71 129 1.04e-11 SMART
low complexity region 136 147 N/A INTRINSIC
Pfam:DUF1992 227 295 1.2e-24 PFAM
coiled coil region 312 342 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000232289
AA Change: Q997R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232620
Predicted Effect probably benign
Transcript: ENSMUST00000232640
AA Change: Q86R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,130,597 F1096L probably benign Het
Abcd2 T A 15: 91,178,327 probably null Het
Actr10 T C 12: 70,954,649 I210T probably damaging Het
Apoa5 A T 9: 46,270,652 D342V probably damaging Het
Bicra G A 7: 15,987,738 T618I probably benign Het
Birc6 C A 17: 74,608,282 Q1642K probably benign Het
C130060K24Rik T C 6: 65,381,610 V106A probably benign Het
Cenpn A G 8: 116,940,895 Y331C probably damaging Het
Clcn7 T A 17: 25,157,925 I624N probably benign Het
Eddm3b A T 14: 51,116,630 H25L unknown Het
Fam90a1a A G 8: 21,959,297 E19G probably benign Het
Fbxo18 T C 2: 11,764,127 D285G probably benign Het
Fbxo41 A T 6: 85,480,765 probably null Het
Frem3 A G 8: 80,612,443 D455G possibly damaging Het
Gm45234 T C 6: 124,747,695 probably benign Het
Gm5431 C T 11: 48,889,085 D337N probably benign Het
Gm6882 T A 7: 21,427,587 I119F probably damaging Het
Kcns3 C T 12: 11,092,194 R168Q probably damaging Het
Klra17 T A 6: 129,831,593 N226Y probably damaging Het
Macf1 T C 4: 123,459,374 D1504G probably damaging Het
Macf1 T C 4: 123,432,603 N2915D probably benign Het
Mgat4d C T 8: 83,368,981 S295L possibly damaging Het
Mslnl T C 17: 25,746,151 V497A probably benign Het
Mtor T C 4: 148,470,680 S920P probably damaging Het
Mynn C A 3: 30,611,615 H465Q probably damaging Het
Myo16 A G 8: 10,361,088 E182G probably damaging Het
Ncln T C 10: 81,488,596 I417V probably benign Het
Nlrp4f A T 13: 65,194,171 C553* probably null Het
Olfr1084 T A 2: 86,639,636 Q24L possibly damaging Het
Olfr177 G A 16: 58,873,036 T38I probably damaging Het
Pkhd1 T C 1: 20,377,399 I2257V probably damaging Het
Ppp4r4 T A 12: 103,600,398 S35T possibly damaging Het
Rnf213 T C 11: 119,445,673 V3291A probably benign Het
Runx2 C T 17: 44,724,829 A173T probably damaging Het
Ryr2 A T 13: 11,792,762 Y833* probably null Het
Setbp1 G A 18: 78,857,410 A1014V probably damaging Het
Slc25a38 A G 9: 120,120,446 probably benign Het
Stk4 A G 2: 164,086,607 T120A probably benign Het
Taf3 A T 2: 10,042,519 V106D probably benign Het
Uchl5 A G 1: 143,802,174 I139V possibly damaging Het
Ung A G 5: 114,130,576 E25G probably benign Het
Wrn A G 8: 33,285,179 V619A probably benign Het
Other mutations in Gart
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00597:Gart APN 16 91638789 missense possibly damaging 0.58
IGL00837:Gart APN 16 91638720 unclassified probably benign
IGL01010:Gart APN 16 91643092 nonsense probably null
IGL01064:Gart APN 16 91623007 missense probably damaging 1.00
IGL01451:Gart APN 16 91625512 missense probably benign
IGL02301:Gart APN 16 91621837 splice site probably benign
IGL02814:Gart APN 16 91623457 missense possibly damaging 0.58
sylvester UTSW 16 91630602 splice site probably benign
PIT4453001:Gart UTSW 16 91636538 missense probably damaging 1.00
R0137:Gart UTSW 16 91625394 missense probably benign
R0197:Gart UTSW 16 91623403 missense possibly damaging 0.95
R0321:Gart UTSW 16 91623037 unclassified probably benign
R0322:Gart UTSW 16 91623037 unclassified probably benign
R0398:Gart UTSW 16 91639449 missense probably damaging 1.00
R0410:Gart UTSW 16 91641327 missense probably damaging 1.00
R0496:Gart UTSW 16 91623037 unclassified probably benign
R0620:Gart UTSW 16 91630602 splice site probably benign
R0628:Gart UTSW 16 91633902 missense probably benign 0.01
R0883:Gart UTSW 16 91623403 missense possibly damaging 0.95
R1346:Gart UTSW 16 91628182 splice site probably null
R1490:Gart UTSW 16 91624344 missense probably damaging 1.00
R1686:Gart UTSW 16 91625349 missense probably damaging 1.00
R1751:Gart UTSW 16 91642949 splice site probably benign
R1917:Gart UTSW 16 91628149 missense probably damaging 1.00
R2144:Gart UTSW 16 91630081 missense probably damaging 1.00
R2421:Gart UTSW 16 91643040 splice site probably null
R4305:Gart UTSW 16 91633992 missense possibly damaging 0.48
R4377:Gart UTSW 16 91634094 missense probably benign 0.31
R4599:Gart UTSW 16 91622945 nonsense probably null
R4619:Gart UTSW 16 91625433 missense probably damaging 1.00
R4620:Gart UTSW 16 91625433 missense probably damaging 1.00
R5112:Gart UTSW 16 91634045 missense probably benign 0.02
R5902:Gart UTSW 16 91628527 missense probably damaging 1.00
R5975:Gart UTSW 16 91624336 missense probably damaging 1.00
R6736:Gart UTSW 16 91636107 missense probably benign 0.21
R7041:Gart UTSW 16 91643143 start gained probably benign
R7150:Gart UTSW 16 91628463 missense possibly damaging 0.69
R7320:Gart UTSW 16 91621681 missense probably benign 0.00
R7709:Gart UTSW 16 91622965 missense possibly damaging 0.92
R7748:Gart UTSW 16 91630652 missense possibly damaging 0.66
R7911:Gart UTSW 16 91638784 missense probably benign 0.23
R8066:Gart UTSW 16 91639447 missense probably benign
R8209:Gart UTSW 16 91628153 missense possibly damaging 0.78
R8824:Gart UTSW 16 91630703 missense possibly damaging 0.64
R8840:Gart UTSW 16 91636122 missense probably benign 0.02
Posted On2015-04-16