Incidental Mutation 'R0312:Fpgs'
| ID |
25242 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fpgs
|
| Ensembl Gene |
ENSMUSG00000009566 |
| Gene Name |
folylpolyglutamyl synthetase |
| Synonyms |
|
| MMRRC Submission |
038522-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.965)
|
| Stock # |
R0312 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
32572621-32594157 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32574813 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 435
(Y435H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028148
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009705]
[ENSMUST00000028148]
[ENSMUST00000113272]
[ENSMUST00000127812]
[ENSMUST00000146498]
[ENSMUST00000167841]
|
| AlphaFold |
P48760 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000009705
|
| SMART Domains |
Protein: ENSMUSP00000009705
Gene: ENSMUSG00000026814
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
336 |
346 |
N/A |
INTRINSIC |
|
ZP
|
362 |
569 |
1.29e-2 |
SMART |
|
transmembrane domain
|
587 |
609 |
N/A |
INTRINSIC |
|
low complexity region
|
619 |
634 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028148
AA Change: Y435H
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000028148
Gene: ENSMUSG00000009566
AA Change: Y435H
| 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 |
probably benign
Transcript: ENSMUST00000113272
|
| SMART Domains |
Protein: ENSMUSP00000108897
Gene: ENSMUSG00000026814
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
335 |
345 |
N/A |
INTRINSIC |
|
ZP
|
361 |
568 |
1.29e-2 |
SMART |
|
transmembrane domain
|
586 |
608 |
N/A |
INTRINSIC |
|
low complexity region
|
618 |
633 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123171
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127812
|
| SMART Domains |
Protein: ENSMUSP00000116434
Gene: ENSMUSG00000009566
| 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: ENSMUST00000156792
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185043
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142186
|
| 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 |
probably benign
Transcript: ENSMUST00000167841
|
| SMART Domains |
Protein: ENSMUSP00000130585
Gene: ENSMUSG00000026814
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
336 |
346 |
N/A |
INTRINSIC |
|
ZP
|
362 |
569 |
1.29e-2 |
SMART |
|
transmembrane domain
|
587 |
609 |
N/A |
INTRINSIC |
|
low complexity region
|
616 |
625 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156306
|
| SMART Domains |
Protein: ENSMUSP00000122186
Gene: ENSMUSG00000026814
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
36 |
N/A |
INTRINSIC |
|
ZP
|
52 |
283 |
1.23e-3 |
SMART |
|
| Meta Mutation Damage Score |
0.0914 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.3%
- 20x: 90.3%
|
| Validation Efficiency |
100% (60/60) |
| 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 |
|---|
| Abcb5 |
G |
T |
12: 118,836,572 (GRCm39) |
A1113D |
probably damaging |
Het |
| Adcy1 |
G |
T |
11: 7,099,538 (GRCm39) |
A673S |
probably benign |
Het |
| Apob |
T |
A |
12: 8,059,034 (GRCm39) |
H2505Q |
probably benign |
Het |
| Arhgap12 |
A |
G |
18: 6,061,982 (GRCm39) |
|
probably benign |
Het |
| Bcl9 |
C |
T |
3: 97,116,727 (GRCm39) |
E656K |
probably benign |
Het |
| Bnc1 |
C |
T |
7: 81,627,072 (GRCm39) |
R106H |
possibly damaging |
Het |
| Ccdc54 |
T |
C |
16: 50,411,165 (GRCm39) |
K34E |
possibly damaging |
Het |
| Cfap65 |
G |
A |
1: 74,943,226 (GRCm39) |
R1600W |
probably damaging |
Het |
| Csmd1 |
A |
T |
8: 16,034,760 (GRCm39) |
N2470K |
probably damaging |
Het |
| Cspp1 |
T |
C |
1: 10,129,054 (GRCm39) |
|
probably benign |
Het |
| Dgkz |
A |
T |
2: 91,768,684 (GRCm39) |
I699N |
probably damaging |
Het |
| Dhx40 |
G |
A |
11: 86,662,775 (GRCm39) |
T639I |
probably damaging |
Het |
| Dlg1 |
A |
G |
16: 31,609,085 (GRCm39) |
T227A |
probably benign |
Het |
| Dnah10 |
G |
A |
5: 124,873,433 (GRCm39) |
|
probably benign |
Het |
| Dnah3 |
T |
A |
7: 119,644,882 (GRCm39) |
K1133M |
probably damaging |
Het |
| Dock5 |
G |
C |
14: 68,033,440 (GRCm39) |
F976L |
possibly damaging |
Het |
| Evc |
C |
T |
5: 37,485,885 (GRCm39) |
C97Y |
possibly damaging |
Het |
| Fbxw7 |
T |
C |
3: 84,874,876 (GRCm39) |
|
probably benign |
Het |
| Fggy |
A |
C |
4: 95,732,422 (GRCm39) |
D112A |
probably damaging |
Het |
| Fryl |
T |
A |
5: 73,230,231 (GRCm39) |
H1642L |
probably damaging |
Het |
| G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
| Gda |
T |
A |
19: 21,394,369 (GRCm39) |
I237F |
probably damaging |
Het |
| Glt1d1 |
A |
G |
5: 127,768,134 (GRCm39) |
N247S |
probably damaging |
Het |
| Gm7647 |
T |
C |
5: 95,110,839 (GRCm39) |
S7P |
probably benign |
Het |
| Gpr31b |
C |
T |
17: 13,270,498 (GRCm39) |
V224I |
probably damaging |
Het |
| Hlf |
G |
A |
11: 90,278,701 (GRCm39) |
P121L |
possibly damaging |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Ism1 |
G |
T |
2: 139,520,592 (GRCm39) |
M1I |
probably null |
Het |
| Kansl1l |
T |
C |
1: 66,817,265 (GRCm39) |
N365S |
probably null |
Het |
| Lama1 |
T |
C |
17: 68,082,846 (GRCm39) |
L1368P |
possibly damaging |
Het |
| Lima1 |
A |
G |
15: 99,678,968 (GRCm39) |
V491A |
possibly damaging |
Het |
| Lrch1 |
G |
T |
14: 75,185,034 (GRCm39) |
H23N |
possibly damaging |
Het |
| Lrp1b |
A |
G |
2: 41,172,183 (GRCm39) |
V1488A |
probably damaging |
Het |
| Lrp8 |
T |
C |
4: 107,664,052 (GRCm39) |
|
probably benign |
Het |
| Lrrc8e |
A |
G |
8: 4,285,733 (GRCm39) |
S653G |
probably benign |
Het |
| Mnat1 |
A |
G |
12: 73,228,558 (GRCm39) |
T141A |
possibly damaging |
Het |
| Mpeg1 |
C |
A |
19: 12,439,767 (GRCm39) |
N408K |
probably damaging |
Het |
| Myo7b |
T |
C |
18: 32,147,390 (GRCm39) |
E51G |
possibly damaging |
Het |
| Myrf |
G |
C |
19: 10,195,526 (GRCm39) |
T428S |
probably benign |
Het |
| Naa35 |
A |
G |
13: 59,757,395 (GRCm39) |
T257A |
probably benign |
Het |
| Obox5 |
T |
A |
7: 15,491,485 (GRCm39) |
H8Q |
probably damaging |
Het |
| Or1j4 |
A |
T |
2: 36,740,372 (GRCm39) |
I105L |
probably benign |
Het |
| Or51q1c |
T |
C |
7: 103,653,232 (GRCm39) |
V250A |
probably damaging |
Het |
| Or5h26 |
A |
T |
16: 58,988,202 (GRCm39) |
F101L |
probably benign |
Het |
| Phldb2 |
G |
T |
16: 45,609,410 (GRCm39) |
T732N |
probably damaging |
Het |
| Phyhip |
G |
T |
14: 70,704,410 (GRCm39) |
A210S |
possibly damaging |
Het |
| Pik3r4 |
A |
G |
9: 105,563,409 (GRCm39) |
D1262G |
probably damaging |
Het |
| Pip |
G |
A |
6: 41,826,798 (GRCm39) |
E48K |
possibly damaging |
Het |
| Plk4 |
C |
T |
3: 40,767,982 (GRCm39) |
L74F |
probably damaging |
Het |
| Prdm14 |
G |
A |
1: 13,189,031 (GRCm39) |
R438W |
probably damaging |
Het |
| Rab19 |
G |
A |
6: 39,361,023 (GRCm39) |
R57H |
probably benign |
Het |
| Rtl1 |
G |
T |
12: 109,556,661 (GRCm39) |
P1726Q |
probably damaging |
Het |
| Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
| Skint6 |
A |
T |
4: 112,666,297 (GRCm39) |
V1176D |
possibly damaging |
Het |
| Slc12a1 |
A |
G |
2: 125,067,948 (GRCm39) |
I1012V |
probably damaging |
Het |
| Slc1a3 |
C |
T |
15: 8,665,721 (GRCm39) |
M509I |
probably benign |
Het |
| Spata18 |
G |
A |
5: 73,824,224 (GRCm39) |
G35E |
probably benign |
Het |
| Spata31h1 |
A |
T |
10: 82,120,203 (GRCm39) |
I4269N |
probably damaging |
Het |
| Sspo |
C |
T |
6: 48,432,335 (GRCm39) |
P801L |
possibly damaging |
Het |
| Ugt2b37 |
C |
T |
5: 87,398,524 (GRCm39) |
G304D |
probably damaging |
Het |
| Vmn2r25 |
A |
T |
6: 123,805,539 (GRCm39) |
|
probably benign |
Het |
| Xrcc6 |
C |
A |
15: 81,911,423 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
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'- GTTCTACACTCTTCCATAGGGACCCAG -3'
(R):5'- CTCGTTACTACACATCCCAGTGCAG -3'
Sequencing Primer
(F):5'- ctcaccaccatcttaacccc -3'
(R):5'- ATTTGGAAGTCAAGTGGGGG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation