Incidental Mutation 'IGL02397:Fpgs'
ID |
291726 |
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 # |
IGL02397
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
32572621-32594157 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 32575801 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 381
(T381A)
|
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: T381A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000028148 Gene: ENSMUSG00000009566 AA Change: T381A
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: ENSMUST00000142186
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
A |
G |
6: 121,623,834 (GRCm39) |
N400S |
probably benign |
Het |
Adam12 |
T |
A |
7: 133,511,548 (GRCm39) |
|
probably benign |
Het |
Adam5 |
T |
C |
8: 25,234,149 (GRCm39) |
|
probably benign |
Het |
Amn |
A |
T |
12: 111,240,913 (GRCm39) |
Y139F |
possibly damaging |
Het |
Ano10 |
C |
A |
9: 122,090,458 (GRCm39) |
R285L |
probably damaging |
Het |
Atad2b |
A |
G |
12: 5,024,046 (GRCm39) |
Y57C |
probably damaging |
Het |
Brd8 |
T |
C |
18: 34,737,926 (GRCm39) |
K786R |
probably damaging |
Het |
Cacna2d1 |
T |
C |
5: 16,525,162 (GRCm39) |
|
probably benign |
Het |
Card9 |
C |
T |
2: 26,242,341 (GRCm39) |
D532N |
probably damaging |
Het |
Cd22 |
T |
C |
7: 30,577,050 (GRCm39) |
T86A |
probably benign |
Het |
Cebpz |
A |
T |
17: 79,230,690 (GRCm39) |
D842E |
possibly damaging |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Cspp1 |
A |
G |
1: 10,178,690 (GRCm39) |
N713S |
possibly damaging |
Het |
Eml5 |
T |
C |
12: 98,756,933 (GRCm39) |
T1899A |
probably benign |
Het |
Frmd7 |
G |
A |
X: 49,984,775 (GRCm39) |
T465I |
possibly damaging |
Het |
Gm9837 |
A |
T |
11: 53,360,987 (GRCm39) |
|
probably benign |
Het |
Hectd3 |
C |
A |
4: 116,860,333 (GRCm39) |
A816D |
possibly damaging |
Het |
Itpripl2 |
A |
G |
7: 118,089,519 (GRCm39) |
W347R |
probably damaging |
Het |
Kcnc3 |
A |
G |
7: 44,245,218 (GRCm39) |
T503A |
probably damaging |
Het |
Mmadhc |
T |
C |
2: 50,178,992 (GRCm39) |
E142G |
possibly damaging |
Het |
Nabp2 |
T |
A |
10: 128,244,192 (GRCm39) |
N138I |
possibly damaging |
Het |
Obscn |
A |
G |
11: 58,967,725 (GRCm39) |
V2902A |
possibly damaging |
Het |
Rbm8a2 |
T |
C |
1: 175,806,204 (GRCm39) |
D91G |
probably damaging |
Het |
Samd3 |
A |
T |
10: 26,109,474 (GRCm39) |
Y134F |
possibly damaging |
Het |
Slc11a2 |
A |
G |
15: 100,299,530 (GRCm39) |
F58S |
probably damaging |
Het |
Slitrk4 |
T |
C |
X: 63,316,290 (GRCm39) |
T126A |
probably damaging |
Het |
Sspo |
C |
A |
6: 48,438,572 (GRCm39) |
P1547T |
probably benign |
Het |
Tecta |
T |
C |
9: 42,306,294 (GRCm39) |
S45G |
probably damaging |
Het |
Tenm3 |
T |
C |
8: 48,689,729 (GRCm39) |
T1937A |
possibly damaging |
Het |
Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
Trmt1l |
T |
A |
1: 151,315,282 (GRCm39) |
I156N |
probably damaging |
Het |
Vmn1r71 |
C |
T |
7: 10,482,199 (GRCm39) |
R163Q |
probably benign |
Het |
Ythdf2 |
C |
T |
4: 131,938,757 (GRCm39) |
G13D |
probably damaging |
Het |
Zbtb7c |
A |
T |
18: 76,270,047 (GRCm39) |
Y45F |
possibly damaging |
Het |
Zfc3h1 |
G |
A |
10: 115,243,890 (GRCm39) |
M740I |
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 |
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 |
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 |
2015-04-16 |