Incidental Mutation 'IGL01064:Gart'
ID 52880
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 # IGL01064
Quality Score
Status
Chromosome 16
Chromosomal Location 91418074-91443840 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 91419895 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 871 (R871C)
Ref Sequence ENSEMBL: ENSMUSP00000156002 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023684] [ENSMUST00000049244] [ENSMUST00000133731] [ENSMUST00000143058] [ENSMUST00000156713] [ENSMUST00000232289] [ENSMUST00000232640] [ENSMUST00000169982]
AlphaFold Q64737
Predicted Effect probably damaging
Transcript: ENSMUST00000023684
AA Change: R871C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023684
Gene: ENSMUSG00000022962
AA Change: R871C

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 unknown
Transcript: ENSMUST00000232643
AA Change: R4C
Predicted Effect probably damaging
Transcript: ENSMUST00000232289
AA Change: R871C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000232640
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232620
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
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,433,855 (GRCm39) T4137S probably benign Het
Abcb1a T C 5: 8,782,388 (GRCm39) Y924H possibly damaging Het
Ash1l T G 3: 88,979,791 (GRCm39) C2772G probably damaging Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cpne6 T C 14: 55,750,187 (GRCm39) F106S probably damaging Het
Cysltr1 A T X: 105,622,342 (GRCm39) I48N probably damaging Het
Dsg1a A T 18: 20,473,263 (GRCm39) I779F probably damaging Het
Fpr-rs4 T A 17: 18,242,779 (GRCm39) L262H probably damaging Het
Get4 C T 5: 139,238,277 (GRCm39) R20C probably damaging Het
Gm13030 G A 4: 138,600,869 (GRCm39) probably benign Het
Gm17654 A T 14: 43,816,455 (GRCm39) H49Q unknown Het
Gpnmb A G 6: 49,032,593 (GRCm39) I506V probably benign Het
Ist1 T C 8: 110,409,243 (GRCm39) I86V probably damaging Het
Kcnip1 C T 11: 33,583,192 (GRCm39) D198N probably damaging Het
Kif5c A G 2: 49,584,828 (GRCm39) I184V possibly damaging Het
Mink1 A T 11: 70,494,307 (GRCm39) M236L probably benign Het
Muc5ac A T 7: 141,361,210 (GRCm39) N1507I probably benign Het
Nrxn2 G T 19: 6,567,083 (GRCm39) E1326D probably damaging Het
Or10ak8 A T 4: 118,774,091 (GRCm39) M191K possibly damaging Het
Or51q1 A T 7: 103,628,999 (GRCm39) Y200F probably benign Het
Or5b3 T C 19: 13,388,590 (GRCm39) I219T probably benign Het
Patj T C 4: 98,385,210 (GRCm39) S326P possibly damaging Het
Pdha2 T C 3: 140,916,776 (GRCm39) H244R possibly damaging Het
Pgap4 C T 4: 49,586,860 (GRCm39) V103M possibly damaging Het
Pkhd1 C T 1: 20,604,754 (GRCm39) probably benign Het
Ptk7 A T 17: 46,884,492 (GRCm39) L746* probably null Het
Rad54b G A 4: 11,604,866 (GRCm39) G438D probably damaging Het
Rbm27 T C 18: 42,452,879 (GRCm39) V536A possibly damaging Het
Rundc3b T A 5: 8,619,553 (GRCm39) M135L probably damaging Het
Sorcs2 T C 5: 36,222,696 (GRCm39) Y353C probably damaging Het
Srcap T C 7: 127,159,064 (GRCm39) probably benign Het
Sytl5 A G X: 9,771,834 (GRCm39) H66R probably benign Het
Tlr7 T A X: 166,091,207 (GRCm39) E93V probably damaging Het
Tmem156 A G 5: 65,237,327 (GRCm39) L76S probably damaging Het
Tomm70a T C 16: 56,972,975 (GRCm39) F571S probably damaging Het
Trmt10b A G 4: 45,314,347 (GRCm39) Y261C possibly 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
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
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 2013-06-21