Incidental Mutation 'IGL01689:Paics'
ID 104062
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Paics
Ensembl Gene ENSMUSG00000029247
Gene Name phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoribosylaminoimidazole, succinocarboxamide synthetase
Synonyms PAIS, ADE2H1, AIRC, 2610511I09Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01689
Quality Score
Status
Chromosome 5
Chromosomal Location 77099154-77115356 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 77109138 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113483 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031160] [ENSMUST00000117536] [ENSMUST00000120912] [ENSMUST00000141687] [ENSMUST00000153648]
AlphaFold Q9DCL9
Predicted Effect probably null
Transcript: ENSMUST00000031160
SMART Domains Protein: ENSMUSP00000031160
Gene: ENSMUSG00000029247

DomainStartEndE-ValueType
Pfam:SAICAR_synt 9 253 4.8e-81 PFAM
AIRC 266 413 8.36e-31 SMART
Predicted Effect probably null
Transcript: ENSMUST00000117536
SMART Domains Protein: ENSMUSP00000112879
Gene: ENSMUSG00000029247

DomainStartEndE-ValueType
Pfam:SAICAR_synt 9 253 4.8e-81 PFAM
AIRC 266 413 8.36e-31 SMART
Predicted Effect probably null
Transcript: ENSMUST00000120912
SMART Domains Protein: ENSMUSP00000113483
Gene: ENSMUSG00000029247

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: ENSMUST00000141687
SMART Domains Protein: ENSMUSP00000117027
Gene: ENSMUSG00000029247

DomainStartEndE-ValueType
Pfam:SAICAR_synt 9 83 9.6e-22 PFAM
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: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox4 A G 1: 58,284,320 (GRCm39) probably benign Het
Arhgap10 A G 8: 78,137,763 (GRCm39) probably benign Het
Armc9 T C 1: 86,202,140 (GRCm39) V766A probably benign Het
Asxl2 A T 12: 3,546,425 (GRCm39) Q403L probably benign Het
Cd244a G A 1: 171,410,462 (GRCm39) probably benign Het
Cdc34b A G 11: 94,633,345 (GRCm39) K182E probably benign Het
Csnk1d A T 11: 120,862,393 (GRCm39) F295L probably benign Het
Gm11541 A G 11: 94,595,020 (GRCm39) V16A unknown Het
Kdr T C 5: 76,097,500 (GRCm39) D1252G probably benign Het
Kif14 A G 1: 136,447,380 (GRCm39) D1395G probably damaging Het
Lars1 T A 18: 42,350,014 (GRCm39) Q930L probably benign Het
Lypd5 A G 7: 24,052,054 (GRCm39) probably benign Het
Or2w1b G A 13: 21,300,243 (GRCm39) C127Y probably damaging Het
Pcnt A G 10: 76,247,487 (GRCm39) V1015A probably damaging Het
Thada C T 17: 84,754,116 (GRCm39) S285N possibly damaging Het
Tlr1 T C 5: 65,083,122 (GRCm39) D485G probably damaging Het
Vmn2r66 T C 7: 84,657,033 (GRCm39) N124S probably damaging Het
Zfyve26 T C 12: 79,330,827 (GRCm39) D464G possibly damaging Het
Other mutations in Paics
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01516:Paics APN 5 77,104,578 (GRCm39) missense probably damaging 1.00
IGL01642:Paics APN 5 77,109,357 (GRCm39) splice site probably benign
IGL02559:Paics APN 5 77,112,451 (GRCm39) missense possibly damaging 0.55
IGL02814:Paics APN 5 77,110,320 (GRCm39) missense probably damaging 0.99
IGL03093:Paics APN 5 77,109,355 (GRCm39) critical splice donor site probably null
IGL02980:Paics UTSW 5 77,114,102 (GRCm39) missense probably benign 0.00
LCD18:Paics UTSW 5 76,956,744 (GRCm38) frame shift probably null
R2179:Paics UTSW 5 77,109,291 (GRCm39) missense probably damaging 1.00
R4573:Paics UTSW 5 77,104,450 (GRCm39) missense probably benign 0.09
R4926:Paics UTSW 5 77,109,051 (GRCm39) missense probably damaging 1.00
R5134:Paics UTSW 5 77,104,669 (GRCm39) intron probably benign
R5308:Paics UTSW 5 77,104,479 (GRCm39) missense probably damaging 1.00
R7996:Paics UTSW 5 77,107,276 (GRCm39) missense probably benign 0.11
R8300:Paics UTSW 5 77,109,253 (GRCm39) missense probably damaging 1.00
R8506:Paics UTSW 5 77,112,437 (GRCm39) missense possibly damaging 0.47
Posted On 2014-01-21