Incidental Mutation 'IGL02559:Paics'
ID298628
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Paics
Ensembl Gene ENSMUSG00000029247
Gene Namephosphoribosylaminoimidazole carboxylase, phosphoribosylaminoribosylaminoimidazole, succinocarboxamide synthetase
SynonymsADE2H1, 2610511I09Rik, PAIS, AIRC
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02559
Quality Score
Status
Chromosome5
Chromosomal Location76951307-76967509 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 76964604 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 312 (I312V)
Ref Sequence ENSEMBL: ENSMUSP00000113483 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031160] [ENSMUST00000117536] [ENSMUST00000120912] [ENSMUST00000153648]
Predicted Effect possibly damaging
Transcript: ENSMUST00000031160
AA Change: I312V

PolyPhen 2 Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000031160
Gene: ENSMUSG00000029247
AA Change: I312V

DomainStartEndE-ValueType
Pfam:SAICAR_synt 9 253 4.8e-81 PFAM
AIRC 266 413 8.36e-31 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000117536
AA Change: I312V

PolyPhen 2 Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000112879
Gene: ENSMUSG00000029247
AA Change: I312V

DomainStartEndE-ValueType
Pfam:SAICAR_synt 9 253 4.8e-81 PFAM
AIRC 266 413 8.36e-31 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000120912
AA Change: I312V

PolyPhen 2 Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000113483
Gene: ENSMUSG00000029247
AA Change: I312V

DomainStartEndE-ValueType
Pfam:SAICAR_synt 11 248 4e-56 PFAM
AIRC 266 413 8.36e-31 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140051
Predicted Effect probably benign
Transcript: ENSMUST00000153648
SMART Domains Protein: ENSMUSP00000123558
Gene: ENSMUSG00000029247

DomainStartEndE-ValueType
Pfam:SAICAR_synt 9 94 9.6e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154688
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a bifunctional enzyme containing phosphoribosylaminoimidazole carboxylase activity in its N-terminal region and phosphoribosylaminoimidazole succinocarboxamide synthetase in its C-terminal region. It catalyzes steps 6 and 7 of purine biosynthesis. The gene is closely linked and divergently transcribed with a locus that encodes an enzyme in the same pathway, and transcription of the two genes is coordinately regulated. The human genome contains several pseudogenes of this gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp C T 16: 56,687,070 Q1004* probably null Het
Bahcc1 A G 11: 120,285,172 D1914G probably damaging Het
Bcl11b A T 12: 107,915,394 probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Col24a1 A T 3: 145,314,173 I102F probably benign Het
Col7a1 C T 9: 108,973,216 R2063C unknown Het
Ddo T A 10: 40,647,521 L169Q probably damaging Het
Defb4 G T 8: 19,201,297 C60F probably damaging Het
Dock9 A T 14: 121,625,147 probably benign Het
Dysf A T 6: 84,067,446 probably benign Het
Fasn G A 11: 120,809,066 A2253V possibly damaging Het
Fbxw26 T C 9: 109,722,164 D355G probably benign Het
Gak C T 5: 108,584,232 E797K probably null Het
Gm10654 T C 8: 70,932,130 noncoding transcript Het
Gnas T C 2: 174,341,936 probably benign Het
Hdac3 A G 18: 37,954,891 F8S probably damaging Het
Hist1h2bj T A 13: 22,043,363 V45E possibly damaging Het
Hrh4 T C 18: 13,007,244 probably null Het
Klhl1 A G 14: 96,151,960 V586A possibly damaging Het
Lct T C 1: 128,294,266 N1512S probably damaging Het
Mmp28 G T 11: 83,447,740 N128K probably benign Het
Mndal T C 1: 173,872,920 T162A probably benign Het
Myh3 A G 11: 67,101,095 E1822G possibly damaging Het
Mylpf A G 7: 127,214,143 Y133C probably damaging Het
Nup210l G A 3: 90,159,953 A767T probably benign Het
Olfr1404 T C 1: 173,216,521 V290A probably damaging Het
Olfr221 A G 14: 52,036,007 Y35H probably damaging Het
Olfr666 T A 7: 104,892,954 R225W probably benign Het
Pkdrej G T 15: 85,817,848 Q1296K probably benign Het
Ppil2 T C 16: 17,109,651 K26E possibly damaging Het
Rufy1 A G 11: 50,420,483 F170L probably damaging Het
Shcbp1 T A 8: 4,749,305 E93V probably damaging Het
Slamf1 T A 1: 171,767,258 I11K possibly damaging Het
Slc5a5 C T 8: 70,890,271 G215D probably damaging Het
Slco1a1 A T 6: 141,921,788 V473D probably benign Het
Slit1 A G 19: 41,721,085 V123A probably benign Het
Srgap2 A C 1: 131,524,936 probably null Het
Stk32c T C 7: 139,120,690 M208V probably benign Het
Syt15 T C 14: 34,221,803 V103A probably benign Het
Tacc2 T A 7: 130,759,267 L456Q probably damaging Het
Tanc1 A G 2: 59,724,654 probably benign Het
Tepsin G T 11: 120,096,905 D62E probably benign Het
Thap3 T C 4: 151,983,687 D106G probably benign Het
Ttn T C 2: 76,786,217 D14818G probably damaging Het
Txndc2 T C 17: 65,639,590 N39S possibly damaging Het
Ubxn11 A G 4: 134,124,943 E200G probably damaging Het
Vmn2r11 T G 5: 109,052,180 Q469P probably damaging Het
Yipf2 T C 9: 21,592,186 T22A probably damaging Het
Other mutations in Paics
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01516:Paics APN 5 76956731 missense probably damaging 1.00
IGL01642:Paics APN 5 76961510 splice site probably benign
IGL01689:Paics APN 5 76961291 critical splice donor site probably null
IGL02814:Paics APN 5 76962473 missense probably damaging 0.99
IGL03093:Paics APN 5 76961508 critical splice donor site probably null
IGL02980:Paics UTSW 5 76966255 missense probably benign 0.00
LCD18:Paics UTSW 5 76956744 frame shift probably null
R2179:Paics UTSW 5 76961444 missense probably damaging 1.00
R4573:Paics UTSW 5 76956603 missense probably benign 0.09
R4926:Paics UTSW 5 76961204 missense probably damaging 1.00
R5134:Paics UTSW 5 76956822 intron probably benign
R5308:Paics UTSW 5 76956632 missense probably damaging 1.00
Posted On2015-04-16