Incidental Mutation 'IGL01712:Pfas'
ID 104832
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pfas
Ensembl Gene ENSMUSG00000020899
Gene Name phosphoribosylformylglycinamidine synthase (FGAR amidotransferase)
Synonyms 4432409B16Rik, Sofa
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01712
Quality Score
Status
Chromosome 11
Chromosomal Location 68876527-68899286 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 68881886 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 933 (V933A)
Ref Sequence ENSEMBL: ENSMUSP00000021282 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021282]
AlphaFold Q5SUR0
Predicted Effect probably benign
Transcript: ENSMUST00000021282
AA Change: V933A

PolyPhen 2 Score 0.343 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000021282
Gene: ENSMUSG00000020899
AA Change: V933A

DomainStartEndE-ValueType
Pfam:AIRS_C 444 603 1.7e-21 PFAM
low complexity region 615 632 N/A INTRINSIC
low complexity region 786 798 N/A INTRINSIC
Pfam:AIRS_C 853 988 3e-11 PFAM
GATase_5 1061 1332 8.38e-133 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122573
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146490
Predicted Effect probably benign
Transcript: ENSMUST00000149703
SMART Domains Protein: ENSMUSP00000133984
Gene: ENSMUSG00000020899

DomainStartEndE-ValueType
Pfam:AIRS_C 3 110 4e-12 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000152964
AA Change: V37A
SMART Domains Protein: ENSMUSP00000121808
Gene: ENSMUSG00000020899
AA Change: V37A

DomainStartEndE-ValueType
Pfam:AIRS_C 2 94 1.6e-12 PFAM
GATase_5 166 468 6.88e-120 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172915
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173410
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174986
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Purines are necessary for many cellular processes, including DNA replication, transcription, and energy metabolism. Ten enzymatic steps are required to synthesize inosine monophosphate (IMP) in the de novo pathway of purine biosynthesis. The enzyme encoded by this gene catalyzes the fourth step of IMP biosynthesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice heterozygous for spontaneous or ENU-induced mutations exhibit craniofacial abnormalities, most notably a domed cranium and short snout, variable white belly spots and white tail tips, and a range of eye defects including microphthalmia and anophthalmia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm3 T A 3: 59,776,321 (GRCm39) I164N possibly damaging Het
Adgrb3 A G 1: 25,865,360 (GRCm39) V161A probably benign Het
Arhgdib G A 6: 136,901,195 (GRCm39) T178M probably damaging Het
Atp11a T A 8: 12,901,138 (GRCm39) I989K probably benign Het
Bcam T C 7: 19,492,692 (GRCm39) S498G probably damaging Het
Bcas3 A G 11: 85,471,874 (GRCm39) I728V probably damaging Het
Cep57 G T 9: 13,724,713 (GRCm39) P119Q possibly damaging Het
Cimip2a T C 2: 25,108,804 (GRCm39) probably benign Het
Clip4 T A 17: 72,106,036 (GRCm39) I73N probably damaging Het
Cpa4 A G 6: 30,590,815 (GRCm39) D371G possibly damaging Het
Dnah7a A G 1: 53,462,429 (GRCm39) S3721P probably benign Het
Fcrla T C 1: 170,749,192 (GRCm39) probably null Het
Foxg1 T C 12: 49,432,403 (GRCm39) S379P possibly damaging Het
Gatm T A 2: 122,431,306 (GRCm39) Y227F possibly damaging Het
Grid2 A T 6: 64,642,899 (GRCm39) D887V possibly damaging Het
Gtpbp6 A T 5: 110,252,245 (GRCm39) I429N probably benign Het
Ighmbp2 A G 19: 3,323,038 (GRCm39) probably benign Het
Irs4 T C X: 140,505,395 (GRCm39) N934D unknown Het
Kif16b T A 2: 142,490,391 (GRCm39) N1257I probably damaging Het
L1cam T C X: 72,908,044 (GRCm39) Y169C probably damaging Het
L3mbtl3 A T 10: 26,152,133 (GRCm39) M821K probably damaging Het
Lig3 A G 11: 82,680,367 (GRCm39) probably benign Het
Lpin2 T A 17: 71,522,063 (GRCm39) D32E probably damaging Het
Mcoln3 T C 3: 145,834,019 (GRCm39) probably benign Het
Mgst2 T C 3: 51,571,992 (GRCm39) V40A probably damaging Het
Mov10l1 T C 15: 88,908,969 (GRCm39) S997P probably damaging Het
Mycbpap G T 11: 94,403,481 (GRCm39) H187Q possibly damaging Het
Onecut2 T A 18: 64,519,673 (GRCm39) S478T probably damaging Het
Or2n1d A T 17: 38,646,848 (GRCm39) T267S probably benign Het
Or52h7 T C 7: 104,214,226 (GRCm39) V266A probably benign Het
Pcdhb5 A T 18: 37,454,306 (GRCm39) I229F probably damaging Het
Phldb2 A T 16: 45,571,792 (GRCm39) I1200N probably damaging Het
Pla2g4e C A 2: 120,019,884 (GRCm39) probably null Het
Prr36 G A 8: 4,265,243 (GRCm39) P169L probably damaging Het
Rhot2 A G 17: 26,060,334 (GRCm39) probably null Het
Serpina3f C T 12: 104,184,657 (GRCm39) P267L probably damaging Het
Sppl2a C T 2: 126,746,823 (GRCm39) probably benign Het
Tas2r122 A T 6: 132,688,725 (GRCm39) M56K possibly damaging Het
Tbxas1 A G 6: 39,057,994 (GRCm39) T450A probably benign Het
Tex16 T C X: 111,003,451 (GRCm39) S87P probably damaging Het
Them7 T A 2: 105,209,230 (GRCm39) F183L possibly damaging Het
Tmbim7 A G 5: 3,720,074 (GRCm39) T116A probably damaging Het
Tomm40 G T 7: 19,437,288 (GRCm39) S224R probably benign Het
Top3a A T 11: 60,652,562 (GRCm39) I84N probably damaging Het
Vmn1r28 A G 6: 58,242,393 (GRCm39) T79A probably benign Het
Vmn2r61 A T 7: 41,909,661 (GRCm39) Y62F probably damaging Het
Zbtb42 T C 12: 112,646,718 (GRCm39) C298R probably benign Het
Zfp395 G A 14: 65,623,836 (GRCm39) E102K probably damaging Het
Other mutations in Pfas
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00909:Pfas APN 11 68,894,640 (GRCm39) nonsense probably null
IGL01287:Pfas APN 11 68,892,086 (GRCm39) missense probably benign 0.09
IGL02019:Pfas APN 11 68,884,289 (GRCm39) unclassified probably benign
IGL02053:Pfas APN 11 68,883,779 (GRCm39) missense probably damaging 1.00
IGL02718:Pfas APN 11 68,890,971 (GRCm39) splice site probably benign
IGL02801:Pfas APN 11 68,879,103 (GRCm39) unclassified probably benign
Surf UTSW 11 68,878,847 (GRCm39) missense probably damaging 1.00
PIT4812001:Pfas UTSW 11 68,880,862 (GRCm39) missense
R0037:Pfas UTSW 11 68,890,862 (GRCm39) missense probably damaging 1.00
R0046:Pfas UTSW 11 68,881,293 (GRCm39) missense probably benign
R0046:Pfas UTSW 11 68,881,293 (GRCm39) missense probably benign
R0408:Pfas UTSW 11 68,891,931 (GRCm39) critical splice donor site probably null
R0532:Pfas UTSW 11 68,893,455 (GRCm39) splice site probably benign
R0707:Pfas UTSW 11 68,888,863 (GRCm39) missense probably benign 0.00
R0783:Pfas UTSW 11 68,891,347 (GRCm39) missense probably damaging 1.00
R0946:Pfas UTSW 11 68,881,573 (GRCm39) splice site probably null
R0946:Pfas UTSW 11 68,884,121 (GRCm39) critical splice donor site probably null
R1470:Pfas UTSW 11 68,882,185 (GRCm39) missense probably benign
R1470:Pfas UTSW 11 68,882,185 (GRCm39) missense probably benign
R1507:Pfas UTSW 11 68,880,860 (GRCm39) missense probably benign 0.06
R1699:Pfas UTSW 11 68,888,872 (GRCm39) critical splice acceptor site probably null
R1870:Pfas UTSW 11 68,882,795 (GRCm39) missense probably damaging 1.00
R1871:Pfas UTSW 11 68,882,795 (GRCm39) missense probably damaging 1.00
R1959:Pfas UTSW 11 68,885,110 (GRCm39) missense probably damaging 1.00
R2026:Pfas UTSW 11 68,884,783 (GRCm39) missense probably damaging 1.00
R2180:Pfas UTSW 11 68,883,013 (GRCm39) missense possibly damaging 0.92
R3808:Pfas UTSW 11 68,880,779 (GRCm39) intron probably benign
R3809:Pfas UTSW 11 68,880,779 (GRCm39) intron probably benign
R3872:Pfas UTSW 11 68,891,089 (GRCm39) missense probably damaging 1.00
R3906:Pfas UTSW 11 68,879,112 (GRCm39) unclassified probably benign
R4092:Pfas UTSW 11 68,884,775 (GRCm39) missense probably benign
R4437:Pfas UTSW 11 68,879,243 (GRCm39) missense probably damaging 1.00
R4599:Pfas UTSW 11 68,881,895 (GRCm39) missense probably benign 0.15
R4763:Pfas UTSW 11 68,881,020 (GRCm39) missense possibly damaging 0.81
R5116:Pfas UTSW 11 68,881,816 (GRCm39) intron probably benign
R5310:Pfas UTSW 11 68,878,847 (GRCm39) missense probably damaging 1.00
R5328:Pfas UTSW 11 68,879,418 (GRCm39) missense probably damaging 1.00
R5351:Pfas UTSW 11 68,882,217 (GRCm39) missense probably damaging 1.00
R5427:Pfas UTSW 11 68,891,979 (GRCm39) missense possibly damaging 0.90
R5533:Pfas UTSW 11 68,882,296 (GRCm39) missense probably benign 0.02
R5602:Pfas UTSW 11 68,881,871 (GRCm39) missense probably benign 0.05
R5637:Pfas UTSW 11 68,884,149 (GRCm39) missense probably damaging 1.00
R5645:Pfas UTSW 11 68,881,958 (GRCm39) missense probably damaging 1.00
R6149:Pfas UTSW 11 68,882,771 (GRCm39) missense probably benign 0.07
R6295:Pfas UTSW 11 68,888,825 (GRCm39) missense probably benign 0.36
R6305:Pfas UTSW 11 68,892,023 (GRCm39) missense possibly damaging 0.51
R6387:Pfas UTSW 11 68,891,291 (GRCm39) missense probably damaging 1.00
R6425:Pfas UTSW 11 68,881,897 (GRCm39) missense probably benign 0.17
R6523:Pfas UTSW 11 68,881,283 (GRCm39) missense probably benign
R6914:Pfas UTSW 11 68,883,007 (GRCm39) missense probably benign 0.01
R6915:Pfas UTSW 11 68,883,007 (GRCm39) missense probably benign 0.01
R6945:Pfas UTSW 11 68,891,356 (GRCm39) missense probably benign
R6957:Pfas UTSW 11 68,884,709 (GRCm39) missense probably benign 0.14
R7025:Pfas UTSW 11 68,881,586 (GRCm39) missense probably benign 0.01
R7257:Pfas UTSW 11 68,883,785 (GRCm39) missense probably damaging 1.00
R7386:Pfas UTSW 11 68,894,600 (GRCm39) missense probably benign
R7424:Pfas UTSW 11 68,890,918 (GRCm39) missense probably damaging 1.00
R7459:Pfas UTSW 11 68,879,481 (GRCm39) missense
R7593:Pfas UTSW 11 68,881,921 (GRCm39) missense
R7731:Pfas UTSW 11 68,890,871 (GRCm39) missense probably damaging 1.00
R8103:Pfas UTSW 11 68,883,119 (GRCm39) missense probably damaging 0.98
R8248:Pfas UTSW 11 68,891,089 (GRCm39) missense probably damaging 1.00
R8804:Pfas UTSW 11 68,881,908 (GRCm39) missense
R8853:Pfas UTSW 11 68,883,744 (GRCm39) missense probably damaging 1.00
R9032:Pfas UTSW 11 68,879,421 (GRCm39) missense
R9050:Pfas UTSW 11 68,882,567 (GRCm39) missense probably benign 0.01
R9283:Pfas UTSW 11 68,884,708 (GRCm39) missense probably damaging 1.00
R9644:Pfas UTSW 11 68,883,542 (GRCm39) missense probably benign 0.23
Z1176:Pfas UTSW 11 68,893,313 (GRCm39) missense probably damaging 1.00
Z1176:Pfas UTSW 11 68,880,896 (GRCm39) missense
Z1177:Pfas UTSW 11 68,893,319 (GRCm39) nonsense probably null
Z1177:Pfas UTSW 11 68,881,051 (GRCm39) missense probably damaging 1.00
Posted On 2014-01-21