Incidental Mutation 'R1326:Fpgs'
| ID |
157206 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fpgs
|
| Ensembl Gene |
ENSMUSG00000009566 |
| Gene Name |
folylpolyglutamyl synthetase |
| Synonyms |
|
| MMRRC Submission |
039392-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.965)
|
| Stock # |
R1326 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
32572621-32594157 bp(-) (GRCm39) |
| Type of Mutation |
splice site (133 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 32582592 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141705
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028148]
[ENSMUST00000028148]
[ENSMUST00000127812]
[ENSMUST00000127812]
[ENSMUST00000143743]
[ENSMUST00000146498]
|
| AlphaFold |
P48760 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028148
|
| SMART Domains |
Protein: ENSMUSP00000028148
Gene: ENSMUSG00000009566
| 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: ENSMUST00000028148
|
| SMART Domains |
Protein: ENSMUSP00000028148
Gene: ENSMUSG00000009566
| 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: 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 |
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 |
probably null
Transcript: ENSMUST00000143743
|
| 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: ENSMUST00000149491
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156792
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185043
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.7%
- 20x: 87.6%
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap5 |
G |
A |
12: 52,565,153 (GRCm39) |
S708N |
possibly damaging |
Het |
| Armc3 |
T |
C |
2: 19,314,935 (GRCm39) |
*882Q |
probably null |
Het |
| Atp13a3 |
G |
A |
16: 30,171,128 (GRCm39) |
L306F |
probably damaging |
Het |
| Cyp2d9 |
T |
C |
15: 82,339,357 (GRCm39) |
I130T |
possibly damaging |
Het |
| Ect2l |
C |
T |
10: 18,041,290 (GRCm39) |
R296H |
probably benign |
Het |
| Eomes |
C |
T |
9: 118,313,565 (GRCm39) |
Q518* |
probably null |
Het |
| Errfi1 |
T |
C |
4: 150,949,621 (GRCm39) |
V6A |
possibly damaging |
Het |
| Fezf2 |
T |
C |
14: 12,342,644 (GRCm38) |
N407S |
probably benign |
Het |
| Fsbp |
A |
G |
4: 11,579,891 (GRCm39) |
Y53C |
probably damaging |
Het |
| Hspd1 |
T |
C |
1: 55,119,418 (GRCm39) |
|
probably null |
Het |
| Ifna7 |
A |
T |
4: 88,734,931 (GRCm39) |
E156V |
possibly damaging |
Het |
| Map1a |
C |
T |
2: 121,136,671 (GRCm39) |
Q2258* |
probably null |
Het |
| Mier2 |
A |
G |
10: 79,380,543 (GRCm39) |
F289S |
probably damaging |
Het |
| Mmp16 |
A |
G |
4: 18,054,517 (GRCm39) |
N341S |
possibly damaging |
Het |
| Moxd2 |
T |
C |
6: 40,857,288 (GRCm39) |
T491A |
probably benign |
Het |
| Narf |
T |
A |
11: 121,133,379 (GRCm39) |
L60Q |
probably damaging |
Het |
| Pa2g4 |
T |
C |
10: 128,395,142 (GRCm39) |
D341G |
probably benign |
Het |
| Parp1 |
T |
A |
1: 180,428,023 (GRCm39) |
V991D |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Slc1a4 |
A |
G |
11: 20,282,159 (GRCm39) |
L105P |
probably damaging |
Het |
| Slc27a2 |
T |
A |
2: 126,406,690 (GRCm39) |
Y125N |
probably damaging |
Het |
| Sorl1 |
A |
G |
9: 41,943,092 (GRCm39) |
V928A |
probably benign |
Het |
| Spata31e2 |
G |
T |
1: 26,723,011 (GRCm39) |
P723H |
probably damaging |
Het |
| Usp31 |
G |
C |
7: 121,247,525 (GRCm39) |
S1306C |
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 |
|
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'- ACCACATGGACTCCTGGATTGCTC -3'
(R):5'- AAGGCAGCGTGGCTGGTATAAC -3'
Sequencing Primer
(F):5'- GGACTCCTGGATTGCTCTTACC -3'
(R):5'- GCCCTGGTTTTGCCACTG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation