Incidental Mutation 'R1470:Pfas'
ID 197988
Institutional Source Beutler Lab
Gene Symbol Pfas
Ensembl Gene ENSMUSG00000020899
Gene Name phosphoribosylformylglycinamidine synthase (FGAR amidotransferase)
Synonyms 4432409B16Rik, Sofa
MMRRC Submission 039523-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1470 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 68876527-68899286 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 68882185 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 893 (I893V)
Ref Sequence ENSEMBL: ENSMUSP00000021282 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021282]
AlphaFold Q5SUR0
Predicted Effect probably benign
Transcript: ENSMUST00000021282
AA Change: I893V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000021282
Gene: ENSMUSG00000020899
AA Change: I893V

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 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172915
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174986
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173410
Meta Mutation Damage Score 0.0814 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.5%
  • 20x: 93.0%
Validation Efficiency 97% (125/129)
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: 142 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 T A 6: 86,944,337 (GRCm39) S749T unknown Het
Abcb4 A T 5: 8,990,968 (GRCm39) I843F probably damaging Het
Abcb6 A T 1: 75,149,323 (GRCm39) probably benign Het
AC238840.1 A T 7: 38,467,377 (GRCm39) noncoding transcript Het
Actr8 T A 14: 29,708,926 (GRCm39) H244Q possibly damaging Het
Acyp2 A G 11: 30,456,452 (GRCm39) probably benign Het
Adgrv1 A G 13: 81,530,417 (GRCm39) Y5886H probably benign Het
Afap1 C T 5: 36,119,081 (GRCm39) probably benign Het
Agk T A 6: 40,363,751 (GRCm39) W244R probably damaging Het
Akirin1 T A 4: 123,631,883 (GRCm39) probably benign Het
Ankrd11 C A 8: 123,626,463 (GRCm39) V161L probably damaging Het
Arap3 T C 18: 38,122,249 (GRCm39) probably null Het
Arhgap29 A G 3: 121,785,968 (GRCm39) probably benign Het
Armc3 A G 2: 19,243,547 (GRCm39) M88V probably benign Het
Atp13a5 G T 16: 29,167,833 (GRCm39) P109T probably benign Het
Avpr1b T A 1: 131,528,323 (GRCm39) V282D probably damaging Het
Baz2b T C 2: 59,808,890 (GRCm39) K120E possibly damaging Het
Bltp1 T C 3: 37,052,480 (GRCm39) M3060T probably benign Het
Cacna1a T A 8: 85,241,579 (GRCm39) probably benign Het
Cacng6 G A 7: 3,473,404 (GRCm39) C76Y probably damaging Het
Cactin G T 10: 81,158,985 (GRCm39) E279* probably null Het
Car9 A G 4: 43,510,222 (GRCm39) Y268C probably damaging Het
Ccdc146 T A 5: 21,524,564 (GRCm39) I263F probably damaging Het
Cdc16 A T 8: 13,808,992 (GRCm39) probably benign Het
Cdh16 T G 8: 105,345,003 (GRCm39) S429R probably benign Het
Cep250 A G 2: 155,832,995 (GRCm39) E1639G probably damaging Het
Ces1d A T 8: 93,921,649 (GRCm39) V38D possibly damaging Het
Chd1 A T 17: 15,946,545 (GRCm39) Q97L possibly damaging Het
Ciita G A 16: 10,332,332 (GRCm39) D898N possibly damaging Het
Clstn1 A G 4: 149,719,179 (GRCm39) N336S possibly damaging Het
Cntnap5a A G 1: 116,187,249 (GRCm39) D607G probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Col20a1 C T 2: 180,636,753 (GRCm39) H245Y probably benign Het
Coq8b A T 7: 26,951,734 (GRCm39) T399S probably benign Het
Cpn2 A G 16: 30,079,003 (GRCm39) S233P probably benign Het
Cryz G A 3: 154,312,113 (GRCm39) G70D probably damaging Het
Csmd1 G T 8: 16,207,218 (GRCm39) probably benign Het
Def6 T A 17: 28,444,956 (GRCm39) D451E possibly damaging Het
Dnah8 T A 17: 30,966,251 (GRCm39) C2480* probably null Het
Dnah9 T C 11: 65,818,648 (GRCm39) N3230S probably benign Het
Dyrk4 G T 6: 126,893,337 (GRCm39) S15* probably null Het
Erc1 T C 6: 119,671,563 (GRCm39) R917G probably damaging Het
Fgd2 T A 17: 29,593,082 (GRCm39) probably benign Het
Frem3 G T 8: 81,337,820 (GRCm39) V38L probably benign Het
Gas2l3 T C 10: 89,249,796 (GRCm39) I441V probably benign Het
Gm14393 T A 2: 174,905,774 (GRCm39) Y6F probably damaging Het
Gm1527 A G 3: 28,969,417 (GRCm39) K256E possibly damaging Het
Gm21905 G T 5: 68,103,740 (GRCm39) probably benign Het
Gtf2ird1 T A 5: 134,424,656 (GRCm39) probably null Het
Hmces C A 6: 87,913,121 (GRCm39) T292K probably benign Het
Hpse2 G A 19: 43,376,692 (GRCm39) S20L probably benign Het
Ift70b G T 2: 75,768,155 (GRCm39) S199R probably benign Het
Ikbke A T 1: 131,204,224 (GRCm39) V23E probably null Het
Ino80 A T 2: 119,210,130 (GRCm39) V1387E probably damaging Het
Islr G T 9: 58,064,589 (GRCm39) A306D probably damaging Het
Jakmip1 G A 5: 37,258,182 (GRCm39) G276D probably damaging Het
Jchain A G 5: 88,673,979 (GRCm39) V55A probably benign Het
Kalrn T C 16: 34,007,841 (GRCm39) K1350E probably damaging Het
Kansl1l T C 1: 66,841,156 (GRCm39) Q48R possibly damaging Het
Kmt5a T C 5: 124,585,334 (GRCm39) L23P probably damaging Het
Lrba C T 3: 86,644,449 (GRCm39) H381Y probably damaging Het
Lrch3 T C 16: 32,808,865 (GRCm39) probably benign Het
Lrrc32 T C 7: 98,148,564 (GRCm39) V448A probably benign Het
Mapkbp1 T C 2: 119,848,301 (GRCm39) M617T probably damaging Het
Megf6 C T 4: 154,336,876 (GRCm39) probably benign Het
Mfap1a T C 2: 121,333,282 (GRCm39) M50V probably benign Het
Mgam G T 6: 40,736,062 (GRCm39) A854S probably damaging Het
Myh3 A C 11: 66,988,885 (GRCm39) probably benign Het
Myo18b C A 5: 112,840,899 (GRCm39) R2298L probably damaging Het
Myo1h T A 5: 114,457,765 (GRCm39) M92K probably damaging Het
Nfkbib T C 7: 28,461,447 (GRCm39) probably null Het
Nlrp2 T A 7: 5,303,950 (GRCm39) T192S probably benign Het
Nr2f1 A T 13: 78,346,284 (GRCm39) Y137N possibly damaging Het
Nup98 T A 7: 101,796,513 (GRCm39) D841V probably damaging Het
Nvl A G 1: 180,966,827 (GRCm39) V59A probably damaging Het
Ogdhl C A 14: 32,068,745 (GRCm39) N948K probably damaging Het
Or11g27 T C 14: 50,771,159 (GRCm39) S97P possibly damaging Het
Or12j3 A G 7: 139,953,026 (GRCm39) S166P probably benign Het
Or13a24 A G 7: 140,154,662 (GRCm39) T199A probably benign Het
Or51g1 A C 7: 102,633,530 (GRCm39) Y280* probably null Het
Orc2 A C 1: 58,520,317 (GRCm39) probably benign Het
Osgin1 G A 8: 120,171,704 (GRCm39) R166H probably damaging Het
Palb2 A T 7: 121,706,746 (GRCm39) F741I probably benign Het
Palb2 G T 7: 121,706,747 (GRCm39) Y740* probably null Het
Parvb G A 15: 84,155,453 (GRCm39) G46D probably damaging Het
Parvb G A 15: 84,155,509 (GRCm39) D65N probably benign Het
Pcsk2 A T 2: 143,388,438 (GRCm39) K10* probably null Het
Pde3a C T 6: 141,411,932 (GRCm39) A502V probably benign Het
Pla2g4a A T 1: 149,716,471 (GRCm39) D663E probably damaging Het
Prickle2 G A 6: 92,435,583 (GRCm39) P6L probably damaging Het
Prx T A 7: 27,217,026 (GRCm39) M648K probably benign Het
Ptpn21 T C 12: 98,654,735 (GRCm39) N744S probably benign Het
Ptprq C T 10: 107,554,435 (GRCm39) V97M probably damaging Het
Pvr T C 7: 19,652,549 (GRCm39) E122G possibly damaging Het
Racgap1 T C 15: 99,537,656 (GRCm39) K15E probably damaging Het
Rock1 C T 18: 10,136,091 (GRCm39) probably null Het
Rorc T A 3: 94,304,609 (GRCm39) Y331* probably null Het
Rpl37 T C 15: 5,148,096 (GRCm39) V91A probably benign Het
Rrp36 T A 17: 46,983,306 (GRCm39) K103* probably null Het
Ryr3 T A 2: 112,483,352 (GRCm39) M4142L probably benign Het
Sash1 A T 10: 8,665,357 (GRCm39) L125H probably damaging Het
Scn5a T C 9: 119,365,541 (GRCm39) M369V possibly damaging Het
Siglec1 A T 2: 130,912,307 (GRCm39) N1678K probably benign Het
Slc15a5 A T 6: 138,049,992 (GRCm39) V141E probably benign Het
Slc43a1 T C 2: 84,690,020 (GRCm39) probably benign Het
Slc8a3 A T 12: 81,246,484 (GRCm39) H856Q probably benign Het
Spmip11 T C 15: 98,483,142 (GRCm39) probably benign Het
Sptlc2 T A 12: 87,402,414 (GRCm39) M171L probably benign Het
Srcap T A 7: 127,158,899 (GRCm39) probably benign Het
St6gal2 A G 17: 55,797,944 (GRCm39) D310G probably damaging Het
Susd2 T A 10: 75,473,888 (GRCm39) D689V probably damaging Het
Suz12 A T 11: 79,910,558 (GRCm39) E303V possibly damaging Het
Taldo1 C A 7: 140,978,500 (GRCm39) T150K probably damaging Het
Tex14 T C 11: 87,440,355 (GRCm39) probably benign Het
Tg T A 15: 66,721,312 (GRCm39) F274I possibly damaging Het
Tmem151b T C 17: 45,856,663 (GRCm39) D259G probably damaging Het
Tmem179 G T 12: 112,468,288 (GRCm39) H64Q probably benign Het
Tmem236 A G 2: 14,223,732 (GRCm39) T174A probably benign Het
Tmtc1 T A 6: 148,207,483 (GRCm39) probably benign Het
Tnc A T 4: 63,884,811 (GRCm39) N1821K probably damaging Het
Tnfrsf11a A G 1: 105,752,773 (GRCm39) N261S probably damaging Het
Traf6 G T 2: 101,526,994 (GRCm39) probably benign Het
Trank1 C A 9: 111,172,300 (GRCm39) F96L possibly damaging Het
Trim56 T A 5: 137,142,017 (GRCm39) I500F probably damaging Het
Ttll5 A G 12: 85,926,168 (GRCm39) I321V possibly damaging Het
Ttn C A 2: 76,608,367 (GRCm39) W17852L probably damaging Het
Twnk G A 19: 44,997,820 (GRCm39) V450M probably damaging Het
Uba52 A G 8: 70,962,206 (GRCm39) I127T possibly damaging Het
Ubr4 T A 4: 139,148,537 (GRCm39) probably null Het
Uggt1 A T 1: 36,215,877 (GRCm39) M130K probably benign Het
Ulk4 T A 9: 120,910,722 (GRCm39) T1101S probably benign Het
Urb1 A G 16: 90,548,902 (GRCm39) S2269P probably benign Het
Ush2a G T 1: 188,132,403 (GRCm39) R875L probably benign Het
Usp9y T A Y: 1,332,471 (GRCm39) H1624L probably benign Homo
Vipr1 T C 9: 121,494,586 (GRCm39) L308S possibly damaging Het
Vps50 G A 6: 3,517,777 (GRCm39) probably benign Het
Xdh T G 17: 74,198,107 (GRCm39) K1260T probably damaging Het
Yipf4 A G 17: 74,800,963 (GRCm39) I94V probably benign Het
Zfhx4 A G 3: 5,478,206 (GRCm39) *3582W probably null Het
Zfp58 T C 13: 67,640,144 (GRCm39) N116D possibly damaging Het
Zfp750 C A 11: 121,402,819 (GRCm39) R643L probably benign Het
Znfx1 A G 2: 166,884,507 (GRCm39) V51A possibly 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
IGL01712:Pfas APN 11 68,881,886 (GRCm39) missense probably benign 0.34
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
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
Predicted Primers PCR Primer
(F):5'- ATTCAGCCATCTCAGGGCAAGC -3'
(R):5'- GACCTCAAACATCCTGGTGGGAAAG -3'

Sequencing Primer
(F):5'- CATCTCAGGGCAAGCCTAAGG -3'
(R):5'- GAAAGGTATGGCTCCGTCC -3'
Posted On 2014-05-23