Incidental Mutation 'R3706:Fpgs'
ID |
271753 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fpgs
|
Ensembl Gene |
ENSMUSG00000009566 |
Gene Name |
folylpolyglutamyl synthetase |
Synonyms |
|
MMRRC Submission |
040699-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.964)
|
Stock # |
R3706 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
32572621-32594157 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 32578008 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 138
(I138N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116434
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028148]
[ENSMUST00000127812]
[ENSMUST00000143743]
[ENSMUST00000146498]
|
AlphaFold |
P48760 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000028148
AA Change: I142N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000028148 Gene: ENSMUSG00000009566 AA Change: I142N
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 damaging
Transcript: ENSMUST00000127812
AA Change: I138N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000116434 Gene: ENSMUSG00000009566 AA Change: I138N
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: ENSMUST00000156792
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185043
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149491
|
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 |
|
Meta Mutation Damage Score |
0.9543 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
100% (41/41) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak2 |
G |
A |
12: 112,740,085 (GRCm39) |
P523L |
possibly damaging |
Het |
Ampd1 |
A |
G |
3: 102,995,627 (GRCm39) |
|
probably benign |
Het |
Anxa10 |
T |
A |
8: 62,517,321 (GRCm39) |
K167M |
probably damaging |
Het |
Atp8b2 |
A |
T |
3: 89,852,459 (GRCm39) |
F866I |
probably damaging |
Het |
Atxn2 |
T |
C |
5: 121,923,931 (GRCm39) |
|
probably null |
Het |
Card11 |
G |
A |
5: 140,872,890 (GRCm39) |
R608C |
probably damaging |
Het |
Cd4 |
T |
C |
6: 124,856,351 (GRCm39) |
K47E |
probably benign |
Het |
Cenpl |
G |
A |
1: 160,905,985 (GRCm39) |
V120M |
probably damaging |
Het |
Cfap69 |
G |
T |
5: 5,663,843 (GRCm39) |
Y461* |
probably null |
Het |
Cplane1 |
T |
C |
15: 8,289,300 (GRCm39) |
S2917P |
unknown |
Het |
Crct1 |
C |
A |
3: 92,922,014 (GRCm39) |
|
probably benign |
Het |
Ddx24 |
A |
T |
12: 103,383,675 (GRCm39) |
V592E |
probably damaging |
Het |
Dmc1 |
G |
C |
15: 79,446,782 (GRCm39) |
P264A |
probably damaging |
Het |
Donson |
A |
G |
16: 91,483,049 (GRCm39) |
|
probably benign |
Het |
Elovl5 |
C |
A |
9: 77,887,119 (GRCm39) |
A170E |
probably null |
Het |
Emilin1 |
A |
G |
5: 31,075,166 (GRCm39) |
E469G |
possibly damaging |
Het |
Fam178b |
A |
G |
1: 36,647,529 (GRCm39) |
Y235H |
probably damaging |
Het |
Fgfr2 |
T |
C |
7: 129,800,161 (GRCm39) |
T358A |
probably benign |
Het |
Glb1l2 |
A |
G |
9: 26,682,316 (GRCm39) |
|
probably benign |
Het |
Hspa4l |
A |
T |
3: 40,736,125 (GRCm39) |
N582I |
possibly damaging |
Het |
Immt |
T |
C |
6: 71,839,346 (GRCm39) |
M226T |
probably benign |
Het |
Kif21b |
A |
G |
1: 136,087,148 (GRCm39) |
N875S |
probably benign |
Het |
Lama2 |
T |
C |
10: 27,014,992 (GRCm39) |
D1572G |
probably damaging |
Het |
Lelp1 |
A |
C |
3: 92,042,714 (GRCm39) |
C112G |
unknown |
Het |
Mctp2 |
A |
G |
7: 71,863,859 (GRCm39) |
|
probably benign |
Het |
Mettl2 |
T |
A |
11: 105,030,552 (GRCm39) |
I376N |
probably benign |
Het |
Mycbp2 |
A |
T |
14: 103,393,850 (GRCm39) |
S2904T |
probably benign |
Het |
Nwd1 |
A |
G |
8: 73,393,744 (GRCm39) |
T377A |
possibly damaging |
Het |
Or10q1 |
T |
A |
19: 13,726,476 (GRCm39) |
L2Q |
probably benign |
Het |
Or5b12b |
C |
T |
19: 12,861,260 (GRCm39) |
T5I |
probably damaging |
Het |
Pappa2 |
A |
T |
1: 158,662,488 (GRCm39) |
Y1162* |
probably null |
Het |
Phip |
T |
C |
9: 82,782,796 (GRCm39) |
E883G |
probably benign |
Het |
Phox2b |
T |
C |
5: 67,253,872 (GRCm39) |
|
probably benign |
Het |
Pigc |
T |
A |
1: 161,798,663 (GRCm39) |
M215K |
probably benign |
Het |
Rab11b |
G |
C |
17: 33,966,740 (GRCm39) |
H162D |
probably benign |
Het |
Reln |
T |
C |
5: 22,200,587 (GRCm39) |
|
probably benign |
Het |
Sgo2b |
T |
C |
8: 64,381,179 (GRCm39) |
E551G |
probably damaging |
Het |
Sucla2 |
A |
G |
14: 73,828,492 (GRCm39) |
K336R |
probably damaging |
Het |
Zfx |
A |
G |
X: 93,142,413 (GRCm39) |
V36A |
possibly damaging |
Het |
Zim1 |
T |
C |
7: 6,680,290 (GRCm39) |
I458V |
probably damaging |
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 |
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 |
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'- TCACCTTCTCTTGGAGGAAGAC -3'
(R):5'- ATCGTAGGATGAACCCACCG -3'
Sequencing Primer
(F):5'- CCTTCTCTTGGAGGAAGACATGGAAG -3'
(R):5'- TAGGCCTGGCTAGGGACTG -3'
|
Posted On |
2015-03-25 |