Incidental Mutation 'IGL03082:Fpgs'
| ID |
417918 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fpgs
|
| Ensembl Gene |
ENSMUSG00000009566 |
| Gene Name |
folylpolyglutamyl synthetase |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
IGL03082
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
32572621-32594157 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 32575769 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 391
(W391*)
|
| 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 null
Transcript: ENSMUST00000028148
AA Change: W391*
|
| SMART Domains |
Protein: ENSMUSP00000028148
Gene: ENSMUSG00000009566
AA Change: W391*
| 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: ENSMUST00000142186
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156792
|
| 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 |
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 |
|
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asic1 |
T |
A |
15: 99,594,428 (GRCm39) |
N324K |
probably benign |
Het |
| Atpaf2 |
T |
C |
11: 60,294,670 (GRCm39) |
E251G |
probably damaging |
Het |
| Cacna1d |
T |
C |
14: 29,821,190 (GRCm39) |
K1109E |
probably damaging |
Het |
| Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
| Chst1 |
C |
T |
2: 92,444,278 (GRCm39) |
T250I |
possibly damaging |
Het |
| Cpne6 |
T |
C |
14: 55,753,760 (GRCm39) |
L406P |
probably damaging |
Het |
| Cryz |
A |
G |
3: 154,310,563 (GRCm39) |
M8V |
probably damaging |
Het |
| Dpysl2 |
T |
C |
14: 67,045,459 (GRCm39) |
E438G |
probably damaging |
Het |
| Elovl1 |
T |
C |
4: 118,288,077 (GRCm39) |
I71T |
probably benign |
Het |
| Eml2 |
T |
A |
7: 18,935,802 (GRCm39) |
Y679N |
probably damaging |
Het |
| Fam185a |
G |
A |
5: 21,660,836 (GRCm39) |
V284I |
possibly damaging |
Het |
| Hdac11 |
C |
T |
6: 91,150,085 (GRCm39) |
P295S |
probably damaging |
Het |
| Herc2 |
A |
T |
7: 55,835,671 (GRCm39) |
I3260F |
probably benign |
Het |
| Hltf |
G |
A |
3: 20,118,723 (GRCm39) |
|
probably benign |
Het |
| Immp2l |
T |
G |
12: 41,160,900 (GRCm39) |
V66G |
possibly damaging |
Het |
| Lrrc4c |
T |
C |
2: 97,460,931 (GRCm39) |
I519T |
probably benign |
Het |
| Megf8 |
A |
G |
7: 25,029,661 (GRCm39) |
T402A |
probably benign |
Het |
| Mttp |
T |
G |
3: 137,829,556 (GRCm39) |
I111L |
probably benign |
Het |
| Mycbp2 |
T |
A |
14: 103,441,805 (GRCm39) |
I1987F |
probably benign |
Het |
| Ncr1 |
T |
A |
7: 4,344,241 (GRCm39) |
|
probably benign |
Het |
| Nedd4 |
G |
A |
9: 72,584,676 (GRCm39) |
|
probably null |
Het |
| Nherf4 |
A |
T |
9: 44,162,083 (GRCm39) |
S39T |
possibly damaging |
Het |
| Nnt |
A |
G |
13: 119,533,404 (GRCm39) |
F87S |
probably damaging |
Het |
| Nol6 |
A |
G |
4: 41,115,878 (GRCm39) |
|
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,635,857 (GRCm39) |
I491N |
probably damaging |
Het |
| Plcxd2 |
T |
C |
16: 45,785,473 (GRCm39) |
I311V |
probably damaging |
Het |
| Pou2f3 |
C |
A |
9: 43,058,212 (GRCm39) |
|
probably null |
Het |
| Rgsl1 |
G |
A |
1: 153,675,693 (GRCm39) |
T836I |
possibly damaging |
Het |
| Rttn |
G |
A |
18: 89,002,072 (GRCm39) |
G328D |
probably damaging |
Het |
| Serpina11 |
T |
C |
12: 103,952,560 (GRCm39) |
E77G |
probably benign |
Het |
| Slc35f1 |
G |
A |
10: 52,809,234 (GRCm39) |
V74I |
probably benign |
Het |
| Slc7a6 |
A |
G |
8: 106,919,854 (GRCm39) |
|
probably null |
Het |
| Smco2 |
A |
G |
6: 146,761,542 (GRCm39) |
T154A |
possibly damaging |
Het |
| Tcerg1 |
A |
G |
18: 42,706,422 (GRCm39) |
Y1033C |
probably damaging |
Het |
| Tmem87a |
A |
G |
2: 120,227,847 (GRCm39) |
F100S |
possibly damaging |
Het |
| Tssk4 |
T |
C |
14: 55,888,518 (GRCm39) |
F129S |
probably damaging |
Het |
| Wdr43 |
C |
T |
17: 71,945,336 (GRCm39) |
T315I |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation