Incidental Mutation 'R7257:Pfas'
ID 564354
Institutional Source Beutler Lab
Gene Symbol Pfas
Ensembl Gene ENSMUSG00000020899
Gene Name phosphoribosylformylglycinamidine synthase (FGAR amidotransferase)
Synonyms 4432409B16Rik, Sofa
MMRRC Submission 045318-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7257 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 68985697-69008460 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 68992959 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 624 (V624E)
Ref Sequence ENSEMBL: ENSMUSP00000021282 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021282]
AlphaFold Q5SUR0
Predicted Effect probably damaging
Transcript: ENSMUST00000021282
AA Change: V624E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021282
Gene: ENSMUSG00000020899
AA Change: V624E

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 probably benign
Transcript: ENSMUST00000149703
SMART Domains Protein: ENSMUSP00000133984
Gene: ENSMUSG00000020899

DomainStartEndE-ValueType
Pfam:AIRS_C 3 110 4e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152964
SMART Domains Protein: ENSMUSP00000121808
Gene: ENSMUSG00000020899

DomainStartEndE-ValueType
Pfam:AIRS_C 2 94 1.6e-12 PFAM
GATase_5 166 468 6.88e-120 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (77/77)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb1 A T 6: 88,839,452 (GRCm38) V120E probably benign Het
Acot11 G A 4: 106,758,402 (GRCm38) T284M probably damaging Het
Adk G T 14: 21,052,671 (GRCm38) K11N probably damaging Het
Akr1c14 T A 13: 4,088,966 (GRCm38) N316K probably benign Het
AL732309.1 A T 2: 25,245,839 (GRCm38) V121D probably benign Het
Amh C A 10: 80,806,653 (GRCm38) Q257K probably benign Het
Antxrl T G 14: 34,065,849 (GRCm38) H276Q probably benign Het
Atp5po G A 16: 91,926,867 (GRCm38) T105M probably damaging Het
Atxn2 T G 5: 121,785,817 (GRCm38) N734K possibly damaging Het
B3gat3 T A 19: 8,925,738 (GRCm38) V153D probably benign Het
Brd2 A G 17: 34,113,822 (GRCm38) V528A probably damaging Het
Camk2g T C 14: 20,747,839 (GRCm38) S335G probably benign Het
Cbln2 T A 18: 86,716,734 (GRCm38) W211R probably damaging Het
Cry2 A T 2: 92,412,981 (GRCm38) I505N possibly damaging Het
Ddx55 T A 5: 124,560,721 (GRCm38) C249S possibly damaging Het
Dglucy A G 12: 100,842,738 (GRCm38) T232A probably damaging Het
Dhx32 A G 7: 133,759,477 (GRCm38) Y76H probably benign Het
Dmac2l T C 12: 69,741,669 (GRCm38) I114T probably damaging Het
Dock7 T A 4: 98,973,412 (GRCm38) N1356I unknown Het
Dock8 T A 19: 25,127,085 (GRCm38) N710K probably benign Het
Dync1i2 T A 2: 71,249,356 (GRCm38) N391K possibly damaging Het
Ect2 A G 3: 27,138,535 (GRCm38) S420P probably damaging Het
Efcab5 T A 11: 77,137,779 (GRCm38) E242V probably damaging Het
Fam83g T A 11: 61,684,753 (GRCm38) Y74N probably damaging Het
Fbxo34 T A 14: 47,500,872 (GRCm38) probably null Het
Flt4 A G 11: 49,626,009 (GRCm38) T208A probably benign Het
Fxyd5 T A 7: 31,035,151 (GRCm38) H183L unknown Het
Gpr150 T G 13: 76,056,466 (GRCm38) D120A probably benign Het
Grm7 A G 6: 110,646,118 (GRCm38) Y84C probably damaging Het
Ighmbp2 A G 19: 3,266,405 (GRCm38) S562P probably damaging Het
Itga7 A G 10: 128,944,413 (GRCm38) Y530C possibly damaging Het
Itpr3 T A 17: 27,118,561 (GRCm38) D2448E probably benign Het
Mmp17 C A 5: 129,595,633 (GRCm38) H216Q probably benign Het
Mns1 C T 9: 72,452,815 (GRCm38) R416W probably damaging Het
Mog A G 17: 37,023,127 (GRCm38) S25P unknown Het
Myh2 A G 11: 67,181,150 (GRCm38) K568R possibly damaging Het
Myh7 A T 14: 54,972,490 (GRCm38) probably null Het
Mymk A T 2: 27,067,368 (GRCm38) W79R probably damaging Het
Ncoa4 T G 14: 32,177,369 (GRCm38) L623R probably damaging Het
Oca2 G A 7: 56,279,538 (GRCm38) probably benign Het
Odam A C 5: 87,887,545 (GRCm38) S123R probably benign Het
Or14c39 T A 7: 86,694,804 (GRCm38) M116K probably damaging Het
Or2w1 A G 13: 21,133,257 (GRCm38) T161A probably benign Het
Or51f1d T C 7: 103,051,630 (GRCm38) F111L probably benign Het
Or5d16 A G 2: 87,943,571 (GRCm38) F19S probably damaging Het
Or6c69 T A 10: 129,912,287 (GRCm38) probably benign Het
Or6c8b C T 10: 129,046,455 (GRCm38) V203M probably benign Het
Ovch2 C T 7: 107,794,433 (GRCm38) C162Y probably damaging Het
Padi1 C A 4: 140,829,471 (GRCm38) G142C probably damaging Het
Pcdhga4 A G 18: 37,687,398 (GRCm38) I667V probably damaging Het
Phb1 A T 11: 95,678,091 (GRCm38) E184V probably damaging Het
Phlpp2 G T 8: 109,940,188 (GRCm38) M1116I probably benign Het
Pip5kl1 T C 2: 32,580,431 (GRCm38) probably null Het
Pitpnm2 T A 5: 124,125,356 (GRCm38) I824F possibly damaging Het
Pla2g4c G A 7: 13,325,744 (GRCm38) S2N possibly damaging Het
Pla2r1 A T 2: 60,427,625 (GRCm38) probably null Het
Pole2 T C 12: 69,202,910 (GRCm38) D521G probably damaging Het
Ptch1 T C 13: 63,573,294 (GRCm38) K54E not run Het
Rapgef2 A T 3: 79,082,627 (GRCm38) L931Q probably damaging Het
Rassf3 G A 10: 121,413,019 (GRCm38) Q206* probably null Het
Rnf123 T A 9: 108,069,029 (GRCm38) T316S probably damaging Het
Rnf138 T A 18: 21,008,693 (GRCm38) probably null Het
Septin3 G A 15: 82,289,213 (GRCm38) A249T probably damaging Het
Slc35a4 A T 18: 36,679,616 (GRCm38) D3V unknown Het
Sltm T A 9: 70,543,965 (GRCm38) probably null Het
Smarca2 C T 19: 26,654,464 (GRCm38) Q560* probably null Het
Tcl1b1 A T 12: 105,164,531 (GRCm38) D91V probably damaging Het
Tirap A T 9: 35,189,034 (GRCm38) V118E probably damaging Het
Tlr5 T A 1: 182,974,233 (GRCm38) Y367* probably null Het
Tmcc1 A G 6: 116,107,338 (GRCm38) F5L probably benign Het
Tnxb A G 17: 34,716,501 (GRCm38) M2592V probably benign Het
Trim66 T A 7: 109,460,244 (GRCm38) E931V probably damaging Het
Ttn A G 2: 76,741,094 (GRCm38) I26485T probably damaging Het
Veph1 C A 3: 66,158,282 (GRCm38) V455L probably benign Het
Vmn1r125 A T 7: 21,272,825 (GRCm38) H216L probably damaging Het
Wdr17 T A 8: 54,632,487 (GRCm38) E1200D probably benign Het
Zbtb37 T A 1: 161,032,661 (GRCm38) N25Y probably damaging Het
Other mutations in Pfas
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00909:Pfas APN 11 69,003,814 (GRCm38) nonsense probably null
IGL01287:Pfas APN 11 69,001,260 (GRCm38) missense probably benign 0.09
IGL01712:Pfas APN 11 68,991,060 (GRCm38) missense probably benign 0.34
IGL02019:Pfas APN 11 68,993,463 (GRCm38) unclassified probably benign
IGL02053:Pfas APN 11 68,992,953 (GRCm38) missense probably damaging 1.00
IGL02718:Pfas APN 11 69,000,145 (GRCm38) splice site probably benign
IGL02801:Pfas APN 11 68,988,277 (GRCm38) unclassified probably benign
Surf UTSW 11 68,988,021 (GRCm38) missense probably damaging 1.00
PIT4812001:Pfas UTSW 11 68,990,036 (GRCm38) missense
R0037:Pfas UTSW 11 69,000,036 (GRCm38) missense probably damaging 1.00
R0046:Pfas UTSW 11 68,990,467 (GRCm38) missense probably benign
R0046:Pfas UTSW 11 68,990,467 (GRCm38) missense probably benign
R0408:Pfas UTSW 11 69,001,105 (GRCm38) critical splice donor site probably null
R0532:Pfas UTSW 11 69,002,629 (GRCm38) splice site probably benign
R0707:Pfas UTSW 11 68,998,037 (GRCm38) missense probably benign 0.00
R0783:Pfas UTSW 11 69,000,521 (GRCm38) missense probably damaging 1.00
R0946:Pfas UTSW 11 68,990,747 (GRCm38) splice site probably null
R0946:Pfas UTSW 11 68,993,295 (GRCm38) critical splice donor site probably null
R1470:Pfas UTSW 11 68,991,359 (GRCm38) missense probably benign
R1470:Pfas UTSW 11 68,991,359 (GRCm38) missense probably benign
R1507:Pfas UTSW 11 68,990,034 (GRCm38) missense probably benign 0.06
R1699:Pfas UTSW 11 68,998,046 (GRCm38) critical splice acceptor site probably null
R1870:Pfas UTSW 11 68,991,969 (GRCm38) missense probably damaging 1.00
R1871:Pfas UTSW 11 68,991,969 (GRCm38) missense probably damaging 1.00
R1959:Pfas UTSW 11 68,994,284 (GRCm38) missense probably damaging 1.00
R2026:Pfas UTSW 11 68,993,957 (GRCm38) missense probably damaging 1.00
R2180:Pfas UTSW 11 68,992,187 (GRCm38) missense possibly damaging 0.92
R3808:Pfas UTSW 11 68,989,953 (GRCm38) intron probably benign
R3809:Pfas UTSW 11 68,989,953 (GRCm38) intron probably benign
R3872:Pfas UTSW 11 69,000,263 (GRCm38) missense probably damaging 1.00
R3906:Pfas UTSW 11 68,988,286 (GRCm38) unclassified probably benign
R4092:Pfas UTSW 11 68,993,949 (GRCm38) missense probably benign
R4437:Pfas UTSW 11 68,988,417 (GRCm38) missense probably damaging 1.00
R4599:Pfas UTSW 11 68,991,069 (GRCm38) missense probably benign 0.15
R4763:Pfas UTSW 11 68,990,194 (GRCm38) missense possibly damaging 0.81
R5116:Pfas UTSW 11 68,990,990 (GRCm38) intron probably benign
R5310:Pfas UTSW 11 68,988,021 (GRCm38) missense probably damaging 1.00
R5328:Pfas UTSW 11 68,988,592 (GRCm38) missense probably damaging 1.00
R5351:Pfas UTSW 11 68,991,391 (GRCm38) missense probably damaging 1.00
R5427:Pfas UTSW 11 69,001,153 (GRCm38) missense possibly damaging 0.90
R5533:Pfas UTSW 11 68,991,470 (GRCm38) missense probably benign 0.02
R5602:Pfas UTSW 11 68,991,045 (GRCm38) missense probably benign 0.05
R5637:Pfas UTSW 11 68,993,323 (GRCm38) missense probably damaging 1.00
R5645:Pfas UTSW 11 68,991,132 (GRCm38) missense probably damaging 1.00
R6149:Pfas UTSW 11 68,991,945 (GRCm38) missense probably benign 0.07
R6295:Pfas UTSW 11 68,997,999 (GRCm38) missense probably benign 0.36
R6305:Pfas UTSW 11 69,001,197 (GRCm38) missense possibly damaging 0.51
R6387:Pfas UTSW 11 69,000,465 (GRCm38) missense probably damaging 1.00
R6425:Pfas UTSW 11 68,991,071 (GRCm38) missense probably benign 0.17
R6523:Pfas UTSW 11 68,990,457 (GRCm38) missense probably benign
R6914:Pfas UTSW 11 68,992,181 (GRCm38) missense probably benign 0.01
R6915:Pfas UTSW 11 68,992,181 (GRCm38) missense probably benign 0.01
R6945:Pfas UTSW 11 69,000,530 (GRCm38) missense probably benign
R6957:Pfas UTSW 11 68,993,883 (GRCm38) missense probably benign 0.14
R7025:Pfas UTSW 11 68,990,760 (GRCm38) missense probably benign 0.01
R7386:Pfas UTSW 11 69,003,774 (GRCm38) missense probably benign
R7424:Pfas UTSW 11 69,000,092 (GRCm38) missense probably damaging 1.00
R7459:Pfas UTSW 11 68,988,655 (GRCm38) missense
R7593:Pfas UTSW 11 68,991,095 (GRCm38) missense
R7731:Pfas UTSW 11 69,000,045 (GRCm38) missense probably damaging 1.00
R8103:Pfas UTSW 11 68,992,293 (GRCm38) missense probably damaging 0.98
R8248:Pfas UTSW 11 69,000,263 (GRCm38) missense probably damaging 1.00
R8804:Pfas UTSW 11 68,991,082 (GRCm38) missense
R8853:Pfas UTSW 11 68,992,918 (GRCm38) missense probably damaging 1.00
R9032:Pfas UTSW 11 68,988,595 (GRCm38) missense
R9050:Pfas UTSW 11 68,991,741 (GRCm38) missense probably benign 0.01
R9283:Pfas UTSW 11 68,993,882 (GRCm38) missense probably damaging 1.00
R9644:Pfas UTSW 11 68,992,716 (GRCm38) missense probably benign 0.23
Z1176:Pfas UTSW 11 69,002,487 (GRCm38) missense probably damaging 1.00
Z1176:Pfas UTSW 11 68,990,070 (GRCm38) missense
Z1177:Pfas UTSW 11 69,002,493 (GRCm38) nonsense probably null
Z1177:Pfas UTSW 11 68,990,225 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGTCGCACACTCAGTTCTG -3'
(R):5'- GGGTGGGAACATTTCTCCTG -3'

Sequencing Primer
(F):5'- CACTCAGTTCTGGGGGCAAAG -3'
(R):5'- GAACATTTCTCCTGTTCTCTAGGC -3'
Posted On 2019-06-26