Mutagenetix > Incidental Mutation

Incidental Mutation 'R6337:Fpgs'

513731

Institutional Source

Beutler Lab

Gene Symbol

Fpgs

Ensembl Gene

ENSMUSG00000009566

Gene Name

folylpolyglutamyl synthetase

Synonyms

MMRRC Submission

044491-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R6337 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32572621-32594157 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 32577953 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 156 (Y156*)

Ref Sequence

ENSEMBL: ENSMUSP00000116434 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028148] [ENSMUST00000127812] [ENSMUST00000143743] [ENSMUST00000146498]

AlphaFold

P48760

Predicted Effect

probably null
Transcript: ENSMUST00000028148
AA Change: Y160*

SMART Domains

Protein: ENSMUSP00000028148
Gene: ENSMUSG00000009566
AA Change: Y160*

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
SCOP:d1jbwa2	43	327	1e-59	SMART
PDB:1O5Z\|A	99	389	2e-37	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123171

Predicted Effect

probably null
Transcript: ENSMUST00000127812
AA Change: Y156*

SMART Domains

Protein: ENSMUSP00000116434
Gene: ENSMUSG00000009566
AA Change: Y156*

Domain	Start	End	E-Value	Type
SCOP:d1jbwa2	40	243	3e-48	SMART
PDB:1O5Z\|A	56	243	4e-30	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130164

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132327

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142186

Predicted Effect

probably benign
Transcript: ENSMUST00000143743

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149491

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185043

Predicted Effect

probably benign
Transcript: ENSMUST00000146498

SMART Domains

Protein: ENSMUSP00000141899
Gene: ENSMUSG00000009566

Domain	Start	End	E-Value	Type
SCOP:d1jbwa2	40	126	2e-14	SMART
low complexity region	136	148	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156792

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

98% (61/62)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	T	G	3: 89,969,040 (GRCm39)	V221G	probably benign	Het
Abca12	G	A	1: 71,334,172 (GRCm39)	A1110V	probably damaging	Het
Acsl6	C	A	11: 54,231,368 (GRCm39)	P462T	probably damaging	Het
Acsm5	G	A	7: 119,133,458 (GRCm39)	A208T	probably benign	Het
Adcyap1	T	A	17: 93,509,709 (GRCm39)	Y53*	probably null	Het
Adgrg7	T	A	16: 56,572,788 (GRCm39)	I343F	probably damaging	Het
Agl	T	A	3: 116,580,426 (GRCm39)	K376M	possibly damaging	Het
Akna	A	G	4: 63,292,240 (GRCm39)	Y1142H	probably benign	Het
Anks1b	A	T	10: 90,757,158 (GRCm39)	T182S	probably benign	Het
Apol7e	T	A	15: 77,598,582 (GRCm39)	Y16N	possibly damaging	Het
Bptf	G	T	11: 106,949,605 (GRCm39)	T2238K	possibly damaging	Het
Ccdc87	A	G	19: 4,889,829 (GRCm39)	E107G	probably benign	Het
Ccng2	C	T	5: 93,418,780 (GRCm39)	A135V	probably benign	Het
Chd8	C	A	14: 52,441,566 (GRCm39)	R842L	probably damaging	Het
Cldn18	T	A	9: 99,591,995 (GRCm39)	T3S	probably benign	Het
Dhcr7	T	C	7: 143,390,468 (GRCm39)		probably null	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dusp26	T	C	8: 31,586,325 (GRCm39)	V182A	probably damaging	Het
Eif3e	T	C	15: 43,115,692 (GRCm39)	D358G	possibly damaging	Het
Epha3	A	T	16: 63,388,806 (GRCm39)	L814H	probably damaging	Het
Flnc	A	G	6: 29,454,318 (GRCm39)	N1877S	probably damaging	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gm5591	T	C	7: 38,221,319 (GRCm39)	D250G	probably benign	Het
Gtf2e2	C	T	8: 34,266,043 (GRCm39)	R240*	probably null	Het
Hells	G	T	19: 38,943,254 (GRCm39)	Q519H	probably benign	Het
Hscb	A	G	5: 110,987,360 (GRCm39)		probably null	Het
Inpp5k	T	A	11: 75,537,640 (GRCm39)	I350N	probably damaging	Het
Irf9	G	A	14: 55,843,799 (GRCm39)	V221I	possibly damaging	Het
Itga8	A	T	2: 12,258,280 (GRCm39)	Y261*	probably null	Het
Itprid2	G	A	2: 79,485,463 (GRCm39)	D506N	probably damaging	Het
Lama1	C	T	17: 68,093,014 (GRCm39)	T1684M	probably benign	Het
Lrp2	A	T	2: 69,268,811 (GRCm39)	H4157Q	probably damaging	Het
Nceh1	G	T	3: 27,276,956 (GRCm39)	R93L	probably damaging	Het
Nell2	A	G	15: 95,283,025 (GRCm39)	F339S	probably damaging	Het
Or2t49	A	T	11: 58,392,838 (GRCm39)	C181*	probably null	Het
Phf11a	C	A	14: 59,521,817 (GRCm39)	C118F	probably damaging	Het
Purg	A	G	8: 33,876,451 (GRCm39)	K30E	possibly damaging	Het
Qprt	C	T	7: 126,708,101 (GRCm39)	R110H	probably damaging	Het
Robo2	T	C	16: 73,725,039 (GRCm39)	T1055A	probably benign	Het
Serpina3a	T	C	12: 104,079,137 (GRCm39)	F10L	probably benign	Het
Sidt1	A	T	16: 44,121,298 (GRCm39)		probably null	Het
Slc4a4	T	A	5: 89,194,231 (GRCm39)	M237K	probably benign	Het
Slitrk5	A	T	14: 111,917,684 (GRCm39)	D436V	probably damaging	Het
Snd1	T	C	6: 28,888,288 (GRCm39)	Y908H	probably damaging	Het
Sorcs1	A	G	19: 50,132,562 (GRCm39)	V1132A	probably benign	Het
Speer3	A	G	5: 13,843,369 (GRCm39)	E92G	probably damaging	Het
Strada	T	C	11: 106,064,143 (GRCm39)	E58G	possibly damaging	Het
Tbx10	A	T	19: 4,047,312 (GRCm39)	K139*	probably null	Het
Tcf4	T	C	18: 69,766,651 (GRCm39)	Y25H	probably damaging	Het
Tmem108	C	T	9: 103,376,960 (GRCm39)	R163H	possibly damaging	Het
Top2b	A	G	14: 16,399,026 (GRCm38)	T549A	possibly damaging	Het
Tpcn2	A	G	7: 144,833,080 (GRCm39)	I46T	probably damaging	Het
Uox	C	T	3: 146,330,332 (GRCm39)	R163*	probably null	Het
Vipr2	T	A	12: 116,086,363 (GRCm39)	Y129*	probably null	Het
Vps37a	A	T	8: 40,993,749 (GRCm39)	Q248L	probably benign	Het
Wrap53	T	C	11: 69,468,511 (GRCm39)	I179V	probably benign	Het
Zan	G	A	5: 137,450,750 (GRCm39)	A1609V	unknown	Het
Zbtb17	G	A	4: 141,190,694 (GRCm39)	G171S	probably benign	Het
Zbtb5	G	A	4: 44,993,459 (GRCm39)	R642W	probably damaging	Het
Zfyve27	A	G	19: 42,171,096 (GRCm39)		probably null	Het
Zup1	T	C	10: 33,825,252 (GRCm39)	N77D	probably benign	Het

Other mutations in Fpgs

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R7360:Fpgs	UTSW	2	32,584,005 (GRCm39)	missense	possibly damaging	0.91
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'- GCTAGGAAAGACACTCACCTTC -3'
(R):5'- CTTGAGGACGTACGTCATGGAG -3'

Sequencing Primer
(F):5'- CACCTTCTCTTGGAGGAAGACATG -3'
(R):5'- TCATGGAGCCTCGGGAACAG -3'

Posted On

2018-04-27