Incidental Mutation 'R7360:Fpgs'
ID 571241
Institutional Source Beutler Lab
Gene Symbol Fpgs
Ensembl Gene ENSMUSG00000009566
Gene Name folylpolyglutamyl synthetase
Synonyms
MMRRC Submission 045446-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R7360 (G1)
Quality Score 198.009
Status Validated
Chromosome 2
Chromosomal Location 32572621-32594157 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32584005 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 45 (Y45C)
Ref Sequence ENSEMBL: ENSMUSP00000028148 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028148] [ENSMUST00000127812] [ENSMUST00000143743] [ENSMUST00000146498]
AlphaFold P48760
Predicted Effect possibly damaging
Transcript: ENSMUST00000028148
AA Change: Y45C

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000028148
Gene: ENSMUSG00000009566
AA Change: Y45C

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
SCOP:d1jbwa2 43 327 1e-59 SMART
PDB:1O5Z|A 99 389 2e-37 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000127812
SMART Domains Protein: ENSMUSP00000116434
Gene: ENSMUSG00000009566

DomainStartEndE-ValueType
SCOP:d1jbwa2 40 243 3e-48 SMART
PDB:1O5Z|A 56 243 4e-30 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000143743
Predicted Effect probably benign
Transcript: ENSMUST00000146498
SMART Domains Protein: ENSMUSP00000141899
Gene: ENSMUSG00000009566

DomainStartEndE-ValueType
SCOP:d1jbwa2 40 126 2e-14 SMART
low complexity region 136 148 N/A INTRINSIC
Meta Mutation Damage Score 0.4325 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (54/54)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the folylpolyglutamate synthetase enzyme. This enzyme has a central role in establishing and maintaining both cytosolic and mitochondrial folylpolyglutamate concentrations and, therefore, is essential for folate homeostasis and the survival of proliferating cells. This enzyme catalyzes the ATP-dependent addition of glutamate moieties to folate and folate derivatives. Alternative splicing results in transcript variants encoding different isoforms. [provided by RefSeq, Jan 2014]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot11 G C 4: 106,606,548 (GRCm39) P534A possibly damaging Het
Arhgef26 T A 3: 62,355,626 (GRCm39) Y733N possibly damaging Het
Aste1 G T 9: 105,274,835 (GRCm39) M358I probably damaging Het
B4galnt3 C T 6: 120,209,940 (GRCm39) W61* probably null Het
Brd9 C T 13: 74,092,942 (GRCm39) R311W probably benign Het
Cdkn1c T C 7: 143,014,431 (GRCm39) D5G possibly damaging Het
Cerk A G 15: 86,043,327 (GRCm39) F158S probably damaging Het
Clec2m C T 6: 129,303,710 (GRCm39) R85H probably benign Het
Cnot4 T A 6: 35,041,941 (GRCm39) E235V probably damaging Het
Crmp1 T C 5: 37,433,624 (GRCm39) V275A possibly damaging Het
Dcbld2 C A 16: 58,285,683 (GRCm39) probably null Het
Dip2a T C 10: 76,114,394 (GRCm39) R1029G probably damaging Het
Dnaaf1 A G 8: 120,304,090 (GRCm39) T43A probably benign Het
Eaf2 C T 16: 36,648,514 (GRCm39) S2N probably benign Het
Eif2b4 T C 5: 31,348,719 (GRCm39) D164G probably benign Het
Gm1527 C T 3: 28,968,691 (GRCm39) Q248* probably null Het
Gm29666 C T 15: 84,798,469 (GRCm39) A31T unknown Het
Gmip C A 8: 70,263,892 (GRCm39) A112D probably damaging Het
Hibadh C T 6: 52,617,197 (GRCm39) G13S probably benign Het
Hmcn1 A T 1: 150,494,597 (GRCm39) V4164D probably damaging Het
Kif15 A T 9: 122,820,202 (GRCm39) N580I probably benign Het
Krt25 G A 11: 99,208,232 (GRCm39) T332M probably benign Het
Krt88 G T 15: 101,345,643 (GRCm39) probably benign Het
Lrrk2 T C 15: 91,615,858 (GRCm39) probably null Het
Mapkapk5 A G 5: 121,675,169 (GRCm39) probably benign Het
Myh7b C T 2: 155,474,460 (GRCm39) S1725L probably benign Het
Nckap1l T G 15: 103,384,526 (GRCm39) probably null Het
Nphp3 A G 9: 103,893,277 (GRCm39) probably null Het
Obscn A C 11: 58,973,185 (GRCm39) V1996G probably damaging Het
Or14j8 T A 17: 38,263,900 (GRCm39) N5I probably damaging Het
Or4a66 A T 2: 88,531,331 (GRCm39) V114E probably damaging Het
Parp8 T C 13: 117,032,307 (GRCm39) T289A probably benign Het
Pcsk5 T C 19: 17,492,577 (GRCm39) K932R probably benign Het
Pde4dip T C 3: 97,625,632 (GRCm39) D1322G probably benign Het
Peli3 A T 19: 4,985,103 (GRCm39) M136K possibly damaging Het
Pgm5 A G 19: 24,812,181 (GRCm39) I117T probably damaging Het
Ppm1g T C 5: 31,360,621 (GRCm39) D478G probably damaging Het
Ppp2r5c A G 12: 110,541,272 (GRCm39) T474A probably benign Het
Ptger3 T C 3: 157,272,764 (GRCm39) V37A probably benign Het
Ptprz1 T C 6: 23,000,906 (GRCm39) S999P probably damaging Het
Pygl C T 12: 70,274,306 (GRCm39) G18S probably benign Het
Rest T C 5: 77,428,976 (GRCm39) V465A probably benign Het
Sart1 T C 19: 5,433,231 (GRCm39) D422G probably damaging Het
Sgk1 A G 10: 21,869,972 (GRCm39) M4V probably benign Het
Slc33a1 A G 3: 63,855,075 (GRCm39) V395A possibly damaging Het
Slc38a11 A T 2: 65,184,139 (GRCm39) S171T possibly damaging Het
Slc4a2 T A 5: 24,634,713 (GRCm39) S76T probably benign Het
Spata31h1 T C 10: 82,132,341 (GRCm39) D223G unknown Het
Ssc4d T A 5: 135,994,965 (GRCm39) S184C probably damaging Het
Tspoap1 A G 11: 87,669,347 (GRCm39) Y1540C probably benign Het
Ube3a T A 7: 58,926,383 (GRCm39) L408Q probably damaging Het
Usp43 C A 11: 67,767,155 (GRCm39) probably null Het
Zan A C 5: 137,385,232 (GRCm39) V5067G unknown Het
Zfp180 C A 7: 23,804,915 (GRCm39) L445I probably damaging Het
Other mutations in Fpgs
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00091:Fpgs APN 2 32,576,559 (GRCm39) unclassified probably benign
IGL00493:Fpgs APN 2 32,578,009 (GRCm39) missense possibly damaging 0.49
IGL02397:Fpgs APN 2 32,575,801 (GRCm39) missense probably damaging 1.00
IGL02867:Fpgs APN 2 32,575,891 (GRCm39) unclassified probably benign
IGL02889:Fpgs APN 2 32,575,891 (GRCm39) unclassified probably benign
IGL03082:Fpgs APN 2 32,575,769 (GRCm39) nonsense probably null
IGL03126:Fpgs APN 2 32,573,135 (GRCm39) missense possibly damaging 0.86
R0243:Fpgs UTSW 2 32,582,506 (GRCm39) nonsense probably null
R0312:Fpgs UTSW 2 32,574,813 (GRCm39) missense probably damaging 0.99
R1326:Fpgs UTSW 2 32,582,592 (GRCm39) splice site probably null
R1558:Fpgs UTSW 2 32,575,852 (GRCm39) missense possibly damaging 0.77
R1624:Fpgs UTSW 2 32,581,200 (GRCm39) critical splice donor site probably null
R1934:Fpgs UTSW 2 32,577,993 (GRCm39) missense probably damaging 1.00
R3706:Fpgs UTSW 2 32,578,008 (GRCm39) missense probably damaging 1.00
R4439:Fpgs UTSW 2 32,577,513 (GRCm39) missense probably damaging 1.00
R4440:Fpgs UTSW 2 32,577,513 (GRCm39) missense probably damaging 1.00
R4868:Fpgs UTSW 2 32,582,673 (GRCm39) missense probably damaging 1.00
R4979:Fpgs UTSW 2 32,577,379 (GRCm39) unclassified probably benign
R5279:Fpgs UTSW 2 32,582,779 (GRCm39) intron probably benign
R6337:Fpgs UTSW 2 32,577,953 (GRCm39) nonsense probably null
R6648:Fpgs UTSW 2 32,574,799 (GRCm39) nonsense probably null
R6668:Fpgs UTSW 2 32,577,618 (GRCm39) missense probably benign 0.05
R6768:Fpgs UTSW 2 32,576,635 (GRCm39) missense probably benign 0.01
R7134:Fpgs UTSW 2 32,576,641 (GRCm39) missense probably benign 0.25
R7868:Fpgs UTSW 2 32,573,472 (GRCm39) missense probably damaging 1.00
R8957:Fpgs UTSW 2 32,575,354 (GRCm39) missense probably damaging 1.00
R9081:Fpgs UTSW 2 32,577,500 (GRCm39) unclassified probably benign
Z1176:Fpgs UTSW 2 32,582,672 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- ACCTGAGCTCAACTTTCCGG -3'
(R):5'- GTCCGGGAAAATCTAGAGACTCG -3'

Sequencing Primer
(F):5'- GAGCTCAACTTTCCGGTCTCTG -3'
(R):5'- AATCTAGAGACTCGGATTGGTG -3'
Posted On 2019-09-13