Incidental Mutation 'R4439:Fpgs'
| ID |
329653 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fpgs
|
| Ensembl Gene |
ENSMUSG00000009566 |
| Gene Name |
folylpolyglutamyl synthetase |
| Synonyms |
|
| MMRRC Submission |
041704-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R4439 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
32572621-32594157 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 32577513 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 219
(C219Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028148
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009705]
[ENSMUST00000028148]
[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: C219Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028148
Gene: ENSMUSG00000009566
AA Change: C219Y
| 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: C215Y
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000116434
Gene: ENSMUSG00000009566
AA Change: C215Y
| 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 |
unknown
Transcript: ENSMUST00000146498
AA Change: V177M
|
| SMART Domains |
Protein: ENSMUSP00000141899
Gene: ENSMUSG00000009566
AA Change: V177M
| 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: ENSMUST00000156792
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185043
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149491
|
| 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 |
|
| Meta Mutation Damage Score |
0.8088 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
94% (50/53) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
C |
T |
5: 114,384,557 (GRCm39) |
T2237I |
possibly damaging |
Het |
| Adgre1 |
T |
A |
17: 57,754,954 (GRCm39) |
L684Q |
probably damaging |
Het |
| Cfap157 |
T |
A |
2: 32,667,877 (GRCm39) |
Y488F |
probably benign |
Het |
| D630045J12Rik |
A |
G |
6: 38,171,696 (GRCm39) |
I824T |
probably benign |
Het |
| Eno2 |
T |
C |
6: 124,739,922 (GRCm39) |
|
probably benign |
Het |
| Fam78b |
C |
A |
1: 166,906,491 (GRCm39) |
Q217K |
probably damaging |
Het |
| Garem2 |
G |
T |
5: 30,318,344 (GRCm39) |
V106L |
possibly damaging |
Het |
| Grk3 |
A |
T |
5: 113,094,543 (GRCm39) |
|
probably null |
Het |
| H3c2 |
A |
T |
13: 23,936,708 (GRCm39) |
|
probably null |
Het |
| Hint2 |
T |
A |
4: 43,654,919 (GRCm39) |
Y70F |
probably damaging |
Het |
| Ipp |
A |
G |
4: 116,372,274 (GRCm39) |
N101S |
probably benign |
Het |
| Kcnj1 |
A |
T |
9: 32,305,414 (GRCm39) |
|
probably benign |
Het |
| Kcnk4 |
T |
C |
19: 6,910,129 (GRCm39) |
D44G |
probably benign |
Het |
| Kif5c |
T |
C |
2: 49,578,737 (GRCm39) |
S122P |
possibly damaging |
Het |
| Mideas |
C |
T |
12: 84,203,245 (GRCm39) |
G886S |
probably benign |
Het |
| Nipbl |
T |
A |
15: 8,368,208 (GRCm39) |
K1171N |
probably damaging |
Het |
| Or4k39 |
T |
A |
2: 111,239,653 (GRCm39) |
|
noncoding transcript |
Het |
| Pcf11 |
A |
C |
7: 92,307,225 (GRCm39) |
L981R |
probably damaging |
Het |
| Pias2 |
T |
A |
18: 77,185,399 (GRCm39) |
L153H |
probably damaging |
Het |
| Pjvk |
T |
C |
2: 76,481,750 (GRCm39) |
S68P |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,804,666 (GRCm39) |
V3130A |
probably damaging |
Het |
| Plpp4 |
C |
A |
7: 128,858,813 (GRCm39) |
|
probably benign |
Het |
| Plxnd1 |
T |
A |
6: 115,970,937 (GRCm39) |
H277L |
probably damaging |
Het |
| Pramel26 |
A |
T |
4: 143,538,143 (GRCm39) |
V276E |
possibly damaging |
Het |
| Rasgrf2 |
T |
C |
13: 92,131,797 (GRCm39) |
D620G |
possibly damaging |
Het |
| Rd3l |
C |
A |
12: 111,946,092 (GRCm39) |
S63I |
possibly damaging |
Het |
| Scfd2 |
G |
C |
5: 74,558,368 (GRCm39) |
A503G |
possibly damaging |
Het |
| Slco4a1 |
T |
C |
2: 180,114,455 (GRCm39) |
V549A |
probably benign |
Het |
| Tenm4 |
A |
G |
7: 96,545,022 (GRCm39) |
N2375S |
probably benign |
Het |
| Tespa1 |
C |
T |
10: 130,197,826 (GRCm39) |
R283C |
probably damaging |
Het |
| Tle2 |
A |
G |
10: 81,417,516 (GRCm39) |
E227G |
possibly damaging |
Het |
| Tnn |
T |
G |
1: 159,943,650 (GRCm39) |
E1054D |
probably benign |
Het |
| Tnrc6a |
A |
T |
7: 122,751,405 (GRCm39) |
K54* |
probably null |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tpr |
T |
A |
1: 150,279,712 (GRCm39) |
D206E |
probably benign |
Het |
| Ugt2b34 |
A |
T |
5: 87,040,726 (GRCm39) |
F399I |
probably damaging |
Het |
| Usp3 |
A |
T |
9: 66,425,776 (GRCm39) |
D456E |
probably benign |
Het |
| Vmn1r60 |
T |
A |
7: 5,547,488 (GRCm39) |
H204L |
probably damaging |
Het |
| Vmn2r97 |
G |
T |
17: 19,150,616 (GRCm39) |
A488S |
probably benign |
Het |
| Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
Het |
| Wdr86 |
T |
C |
5: 24,935,235 (GRCm39) |
D36G |
probably damaging |
Het |
| Zc3h4 |
C |
T |
7: 16,163,036 (GRCm39) |
P479S |
unknown |
Het |
| Zfhx4 |
A |
T |
3: 5,279,875 (GRCm39) |
|
probably benign |
Het |
| Zfp607b |
T |
A |
7: 27,402,149 (GRCm39) |
C202S |
probably damaging |
Het |
| Zfp882 |
T |
A |
8: 72,667,453 (GRCm39) |
F93L |
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 |
|
R3706:Fpgs
|
UTSW |
2 |
32,578,008 (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'- TTTCAACTGAGGCCACAGAGG -3'
(R):5'- TTCTGCTCTCCTACAGGTGGAC -3'
Sequencing Primer
(F):5'- TAGGACCTGGTAATGACTTGCCAC -3'
(R):5'- AGGTGGACCTGGCAGTG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation